Incidental Mutation 'R0617:Spef2'
| ID |
58474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spef2
|
| Ensembl Gene |
ENSMUSG00000072663 |
| Gene Name |
sperm flagellar 2 |
| Synonyms |
C230086A09Rik |
| MMRRC Submission |
038806-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R0617 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
9578279-9748954 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9592844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 1499
(N1499I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160236]
|
| AlphaFold |
Q8C9J3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159288
AA Change: N1509I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125336
Gene: ENSMUSG00000072663
AA Change: N1509I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH_2
|
5 |
102 |
3.1e-25 |
PFAM |
|
low complexity region
|
106 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
163 |
N/A |
INTRINSIC |
|
coiled coil region
|
171 |
203 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
256 |
N/A |
INTRINSIC |
|
coiled coil region
|
312 |
345 |
N/A |
INTRINSIC |
|
Pfam:ADK
|
602 |
789 |
8.8e-11 |
PFAM |
|
low complexity region
|
819 |
855 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
907 |
N/A |
INTRINSIC |
|
low complexity region
|
1201 |
1221 |
N/A |
INTRINSIC |
|
low complexity region
|
1264 |
1278 |
N/A |
INTRINSIC |
|
low complexity region
|
1359 |
1369 |
N/A |
INTRINSIC |
|
SCOP:d1rec__
|
1378 |
1530 |
3e-3 |
SMART |
|
low complexity region
|
1605 |
1624 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160236
AA Change: N1499I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124222
Gene: ENSMUSG00000072663
AA Change: N1499I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1042
|
5 |
160 |
4.6e-59 |
PFAM |
|
coiled coil region
|
171 |
203 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
256 |
N/A |
INTRINSIC |
|
coiled coil region
|
312 |
345 |
N/A |
INTRINSIC |
|
Pfam:ADK
|
600 |
787 |
3.7e-10 |
PFAM |
|
low complexity region
|
819 |
855 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
907 |
N/A |
INTRINSIC |
|
low complexity region
|
1201 |
1225 |
N/A |
INTRINSIC |
|
low complexity region
|
1254 |
1268 |
N/A |
INTRINSIC |
|
low complexity region
|
1349 |
1359 |
N/A |
INTRINSIC |
|
SCOP:d1rec__
|
1368 |
1520 |
3e-3 |
SMART |
|
low complexity region
|
1595 |
1614 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1429 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
98% (130/133) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit male infertility due to oligospermia and abnormal spermatogenesis, hydroencephaly, sinusitis, and background-dependent lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 130 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930555F03Rik |
A |
T |
8: 49,953,527 (GRCm39) |
|
noncoding transcript |
Het |
| A630073D07Rik |
T |
C |
6: 132,603,700 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
G |
A |
7: 120,032,834 (GRCm39) |
|
probably benign |
Het |
| Abca5 |
A |
T |
11: 110,170,515 (GRCm39) |
D1265E |
probably damaging |
Het |
| Abcf1 |
C |
T |
17: 36,272,079 (GRCm39) |
V312I |
probably benign |
Het |
| Abhd12 |
T |
A |
2: 150,688,285 (GRCm39) |
|
probably null |
Het |
| Adam23 |
A |
G |
1: 63,582,306 (GRCm39) |
H318R |
probably benign |
Het |
| Adcy2 |
T |
A |
13: 68,826,725 (GRCm39) |
K660* |
probably null |
Het |
| Adgrf3 |
T |
C |
5: 30,400,078 (GRCm39) |
T972A |
probably benign |
Het |
| Adipoq |
T |
A |
16: 22,974,160 (GRCm39) |
D62E |
probably damaging |
Het |
| Alk |
G |
T |
17: 72,910,578 (GRCm39) |
P43T |
probably damaging |
Het |
| Arap2 |
AT |
ATT |
5: 62,807,250 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
G |
T |
13: 98,106,863 (GRCm39) |
T687K |
probably benign |
Het |
| Arrb1 |
T |
C |
7: 99,243,884 (GRCm39) |
L278P |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 4,987,401 (GRCm39) |
D76E |
probably benign |
Het |
| Atm |
A |
T |
9: 53,370,241 (GRCm39) |
Y2290* |
probably null |
Het |
| Atrn |
T |
A |
2: 130,837,005 (GRCm39) |
|
probably null |
Het |
| Bpifb1 |
A |
G |
2: 154,054,867 (GRCm39) |
D253G |
possibly damaging |
Het |
| Bpifb9b |
C |
T |
2: 154,161,545 (GRCm39) |
T559M |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,984,439 (GRCm39) |
E3205G |
unknown |
Het |
| Cacna1c |
T |
C |
6: 118,579,174 (GRCm39) |
Y1599C |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,133,630 (GRCm39) |
D590G |
probably damaging |
Het |
| Ccdc68 |
A |
G |
18: 70,079,623 (GRCm39) |
|
probably null |
Het |
| Ccdc97 |
G |
A |
7: 25,413,845 (GRCm39) |
R279C |
probably damaging |
Het |
| Ccm2l |
A |
G |
2: 152,912,820 (GRCm39) |
T120A |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,665,512 (GRCm39) |
|
probably benign |
Het |
| Cfh |
A |
G |
1: 140,028,621 (GRCm39) |
S1043P |
probably benign |
Het |
| Chil3 |
T |
C |
3: 106,063,072 (GRCm39) |
K173E |
probably benign |
Het |
| Cib2 |
T |
C |
9: 54,461,780 (GRCm39) |
D26G |
possibly damaging |
Het |
| Col24a1 |
T |
C |
3: 145,019,881 (GRCm39) |
V84A |
probably damaging |
Het |
| Csn3 |
T |
C |
5: 88,077,730 (GRCm39) |
Y79H |
probably benign |
Het |
| Ddx47 |
T |
A |
6: 134,994,085 (GRCm39) |
V149E |
probably damaging |
Het |
| Dennd5b |
A |
T |
6: 148,934,760 (GRCm39) |
|
probably benign |
Het |
| Desi1 |
T |
C |
15: 81,882,399 (GRCm39) |
N109D |
probably damaging |
Het |
| Fam13c |
T |
C |
10: 70,372,182 (GRCm39) |
|
probably benign |
Het |
| Fam234a |
A |
T |
17: 26,435,591 (GRCm39) |
D264E |
probably benign |
Het |
| Fanca |
A |
G |
8: 124,014,809 (GRCm39) |
F831S |
probably damaging |
Het |
| Fancm |
C |
T |
12: 65,144,091 (GRCm39) |
R518* |
probably null |
Het |
| Fat2 |
A |
G |
11: 55,202,669 (GRCm39) |
V135A |
possibly damaging |
Het |
| Fbxl17 |
A |
C |
17: 63,691,987 (GRCm39) |
F42V |
probably damaging |
Het |
| Fgd3 |
A |
T |
13: 49,418,173 (GRCm39) |
V631E |
possibly damaging |
Het |
| Fhod3 |
G |
A |
18: 25,245,736 (GRCm39) |
|
probably benign |
Het |
| Focad |
T |
C |
4: 88,039,525 (GRCm39) |
|
probably benign |
Het |
| Foxn4 |
C |
A |
5: 114,399,129 (GRCm39) |
|
probably benign |
Het |
| Gm2381 |
A |
T |
7: 42,469,402 (GRCm39) |
C241S |
probably damaging |
Het |
| Gm6483 |
T |
G |
8: 19,743,725 (GRCm39) |
F117V |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,481,295 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,455,027 (GRCm39) |
Q676L |
probably benign |
Het |
| Hipk2 |
G |
A |
6: 38,724,420 (GRCm39) |
R437C |
possibly damaging |
Het |
| Ifnar1 |
T |
C |
16: 91,298,570 (GRCm39) |
Y396H |
probably damaging |
Het |
| Ints5 |
A |
T |
19: 8,873,383 (GRCm39) |
K447N |
probably damaging |
Het |
| Iqsec1 |
T |
C |
6: 90,666,952 (GRCm39) |
Y495C |
probably damaging |
Het |
| Itga5 |
C |
T |
15: 103,264,742 (GRCm39) |
|
probably null |
Het |
| Kcnk4 |
T |
A |
19: 6,905,528 (GRCm39) |
|
probably benign |
Het |
| Kmo |
A |
G |
1: 175,474,756 (GRCm39) |
T174A |
possibly damaging |
Het |
| Krt36 |
T |
C |
11: 99,993,101 (GRCm39) |
D458G |
probably damaging |
Het |
| Krtap16-1 |
G |
T |
11: 99,877,321 (GRCm39) |
P28T |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,552,315 (GRCm39) |
|
probably null |
Het |
| Lrrc9 |
T |
C |
12: 72,529,788 (GRCm39) |
S920P |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,636,481 (GRCm39) |
Y1485F |
probably benign |
Het |
| Mical1 |
C |
T |
10: 41,357,311 (GRCm39) |
A372V |
probably damaging |
Het |
| Ms4a20 |
C |
A |
19: 11,089,764 (GRCm39) |
L40F |
probably damaging |
Het |
| Mtr |
C |
T |
13: 12,236,318 (GRCm39) |
R636Q |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,570,925 (GRCm39) |
T662S |
possibly damaging |
Het |
| Myo10 |
G |
A |
15: 25,738,091 (GRCm39) |
V546M |
probably damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,320,991 (GRCm39) |
W2034* |
probably null |
Het |
| Nhlrc3 |
T |
C |
3: 53,366,044 (GRCm39) |
T150A |
probably damaging |
Het |
| Nicol1 |
T |
C |
5: 34,140,896 (GRCm39) |
|
probably benign |
Het |
| Nkx2-1 |
T |
C |
12: 56,581,640 (GRCm39) |
H69R |
possibly damaging |
Het |
| Nlrp4g |
A |
T |
9: 124,349,540 (GRCm38) |
|
noncoding transcript |
Het |
| Nod2 |
A |
G |
8: 89,379,859 (GRCm39) |
N120S |
probably benign |
Het |
| Nol8 |
T |
C |
13: 49,807,921 (GRCm39) |
F46L |
possibly damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,691,240 (GRCm39) |
D308G |
possibly damaging |
Het |
| Oog3 |
A |
T |
4: 143,886,784 (GRCm39) |
V112D |
probably benign |
Het |
| Or10ag58 |
A |
G |
2: 87,265,005 (GRCm39) |
D58G |
probably damaging |
Het |
| Or4a66 |
A |
G |
2: 88,531,040 (GRCm39) |
V211A |
probably damaging |
Het |
| Or51i1 |
A |
T |
7: 103,671,196 (GRCm39) |
S110T |
probably damaging |
Het |
| Or5af2 |
T |
C |
11: 58,707,975 (GRCm39) |
V47A |
probably damaging |
Het |
| Or5b106 |
T |
C |
19: 13,123,727 (GRCm39) |
M99V |
probably benign |
Het |
| Or5b120 |
C |
A |
19: 13,479,900 (GRCm39) |
N64K |
probably damaging |
Het |
| Or5m9b |
A |
G |
2: 85,905,485 (GRCm39) |
M134V |
probably benign |
Het |
| Or9s18 |
A |
T |
13: 65,300,692 (GRCm39) |
Y218F |
possibly damaging |
Het |
| Pakap |
T |
C |
4: 57,829,434 (GRCm39) |
|
probably benign |
Het |
| Pcdhb8 |
C |
T |
18: 37,490,100 (GRCm39) |
R593C |
probably benign |
Het |
| Pgm3 |
A |
G |
9: 86,438,243 (GRCm39) |
|
probably null |
Het |
| Pirt |
T |
A |
11: 66,816,998 (GRCm39) |
V103E |
probably damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,635,230 (GRCm39) |
D1332V |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,256,518 (GRCm39) |
V122E |
probably damaging |
Het |
| Pramel14 |
A |
G |
4: 143,720,088 (GRCm39) |
|
probably benign |
Het |
| Prmt2 |
C |
T |
10: 76,044,517 (GRCm39) |
|
probably benign |
Het |
| Prrc2a |
G |
T |
17: 35,372,536 (GRCm39) |
P1702T |
probably damaging |
Het |
| Prss39 |
A |
T |
1: 34,539,279 (GRCm39) |
H173L |
probably damaging |
Het |
| Rabl6 |
A |
G |
2: 25,476,878 (GRCm39) |
|
probably null |
Het |
| Rb1cc1 |
T |
A |
1: 6,319,014 (GRCm39) |
I794K |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,125,535 (GRCm39) |
D2716G |
probably damaging |
Het |
| Sbf2 |
ACC |
AC |
7: 109,929,890 (GRCm39) |
|
probably null |
Het |
| Sema6d |
T |
A |
2: 124,502,665 (GRCm39) |
F583L |
possibly damaging |
Het |
| Setx |
T |
A |
2: 29,036,819 (GRCm39) |
H1101Q |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,872,938 (GRCm39) |
C67R |
probably damaging |
Het |
| Skint1 |
T |
A |
4: 111,886,596 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
C |
A |
11: 75,053,757 (GRCm39) |
T1413K |
probably benign |
Het |
| Spata31d1a |
A |
T |
13: 59,850,073 (GRCm39) |
I685N |
possibly damaging |
Het |
| Stk11ip |
T |
A |
1: 75,508,932 (GRCm39) |
|
probably null |
Het |
| Stxbp1 |
A |
C |
2: 32,692,795 (GRCm39) |
I407S |
probably damaging |
Het |
| Svil |
T |
C |
18: 5,117,002 (GRCm39) |
S2059P |
probably damaging |
Het |
| Syne1 |
C |
T |
10: 5,300,933 (GRCm39) |
V932M |
probably damaging |
Het |
| Tacc1 |
A |
C |
8: 25,668,020 (GRCm39) |
|
probably benign |
Het |
| Tbc1d13 |
C |
A |
2: 30,025,576 (GRCm39) |
|
probably benign |
Het |
| Tbc1d15 |
A |
C |
10: 115,075,204 (GRCm39) |
D59E |
probably damaging |
Het |
| Tcaf2 |
A |
G |
6: 42,619,445 (GRCm39) |
F194S |
probably damaging |
Het |
| Terf2ip |
T |
A |
8: 112,738,127 (GRCm39) |
M5K |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 115,987,388 (GRCm39) |
D40E |
probably benign |
Het |
| Tm4sf5 |
T |
A |
11: 70,401,495 (GRCm39) |
S165T |
probably damaging |
Het |
| Tmprss3 |
A |
T |
17: 31,412,886 (GRCm39) |
C129S |
probably damaging |
Het |
| Tmx2 |
T |
C |
2: 84,502,740 (GRCm39) |
D256G |
probably benign |
Het |
| Tnr |
A |
G |
1: 159,695,673 (GRCm39) |
D532G |
probably damaging |
Het |
| Tnrc18 |
T |
A |
5: 142,762,494 (GRCm39) |
H465L |
unknown |
Het |
| Togaram2 |
A |
T |
17: 72,007,504 (GRCm39) |
Q350L |
possibly damaging |
Het |
| Topaz1 |
G |
A |
9: 122,578,971 (GRCm39) |
C627Y |
possibly damaging |
Het |
| Tpx2 |
A |
T |
2: 152,715,058 (GRCm39) |
Q93L |
probably benign |
Het |
| Trim54 |
T |
C |
5: 31,293,526 (GRCm39) |
|
probably null |
Het |
| Troap |
T |
A |
15: 98,980,541 (GRCm39) |
C574S |
probably damaging |
Het |
| Tut7 |
A |
T |
13: 59,964,669 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
T |
C |
4: 139,206,373 (GRCm39) |
|
probably null |
Het |
| Vmn2r51 |
A |
G |
7: 9,834,396 (GRCm39) |
V214A |
possibly damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,484 (GRCm39) |
M642K |
probably benign |
Het |
| Vwa5a |
T |
A |
9: 38,635,191 (GRCm39) |
I232N |
probably damaging |
Het |
| Zfp820 |
A |
T |
17: 22,038,685 (GRCm39) |
S214R |
probably damaging |
Het |
| Zfp955b |
A |
T |
17: 33,524,437 (GRCm39) |
S43R |
probably damaging |
Het |
| Zgrf1 |
C |
T |
3: 127,381,687 (GRCm39) |
T1162M |
probably benign |
Het |
|
| Other mutations in Spef2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00490:Spef2
|
APN |
15 |
9,740,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00886:Spef2
|
APN |
15 |
9,663,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01409:Spef2
|
APN |
15 |
9,716,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01413:Spef2
|
APN |
15 |
9,676,376 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01474:Spef2
|
APN |
15 |
9,663,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01603:Spef2
|
APN |
15 |
9,704,466 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02320:Spef2
|
APN |
15 |
9,717,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02570:Spef2
|
APN |
15 |
9,717,584 (GRCm39) |
nonsense |
probably null |
|
|
IGL02605:Spef2
|
APN |
15 |
9,725,238 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02890:Spef2
|
APN |
15 |
9,748,853 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL02904:Spef2
|
APN |
15 |
9,679,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02942:Spef2
|
APN |
15 |
9,668,960 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02953:Spef2
|
APN |
15 |
9,713,329 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02965:Spef2
|
APN |
15 |
9,725,192 (GRCm39) |
splice site |
probably benign |
|
|
IGL03263:Spef2
|
APN |
15 |
9,667,305 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03302:Spef2
|
APN |
15 |
9,676,466 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0101:Spef2
|
UTSW |
15 |
9,713,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0101:Spef2
|
UTSW |
15 |
9,713,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0183:Spef2
|
UTSW |
15 |
9,716,445 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0386:Spef2
|
UTSW |
15 |
9,584,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Spef2
|
UTSW |
15 |
9,584,070 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0655:Spef2
|
UTSW |
15 |
9,626,217 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0829:Spef2
|
UTSW |
15 |
9,687,899 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0908:Spef2
|
UTSW |
15 |
9,614,281 (GRCm39) |
splice site |
probably null |
|
|
R0939:Spef2
|
UTSW |
15 |
9,704,636 (GRCm39) |
splice site |
probably null |
|
|
R0973:Spef2
|
UTSW |
15 |
9,716,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1371:Spef2
|
UTSW |
15 |
9,725,194 (GRCm39) |
splice site |
probably benign |
|
|
R1392:Spef2
|
UTSW |
15 |
9,647,349 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1392:Spef2
|
UTSW |
15 |
9,647,349 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1428:Spef2
|
UTSW |
15 |
9,596,793 (GRCm39) |
unclassified |
probably benign |
|
|
R1518:Spef2
|
UTSW |
15 |
9,667,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1585:Spef2
|
UTSW |
15 |
9,596,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1654:Spef2
|
UTSW |
15 |
9,634,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1723:Spef2
|
UTSW |
15 |
9,614,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1757:Spef2
|
UTSW |
15 |
9,717,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1812:Spef2
|
UTSW |
15 |
9,679,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1817:Spef2
|
UTSW |
15 |
9,584,194 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1818:Spef2
|
UTSW |
15 |
9,584,194 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1873:Spef2
|
UTSW |
15 |
9,584,194 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1875:Spef2
|
UTSW |
15 |
9,597,487 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1875:Spef2
|
UTSW |
15 |
9,584,194 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1897:Spef2
|
UTSW |
15 |
9,729,740 (GRCm39) |
nonsense |
probably null |
|
|
R1901:Spef2
|
UTSW |
15 |
9,607,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Spef2
|
UTSW |
15 |
9,607,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Spef2
|
UTSW |
15 |
9,663,280 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1968:Spef2
|
UTSW |
15 |
9,609,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1973:Spef2
|
UTSW |
15 |
9,663,152 (GRCm39) |
makesense |
probably null |
|
|
R1998:Spef2
|
UTSW |
15 |
9,668,989 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1999:Spef2
|
UTSW |
15 |
9,668,989 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2008:Spef2
|
UTSW |
15 |
9,713,271 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2111:Spef2
|
UTSW |
15 |
9,589,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2127:Spef2
|
UTSW |
15 |
9,729,747 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2405:Spef2
|
UTSW |
15 |
9,626,120 (GRCm39) |
nonsense |
probably null |
|
|
R2517:Spef2
|
UTSW |
15 |
9,725,283 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2889:Spef2
|
UTSW |
15 |
9,630,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2988:Spef2
|
UTSW |
15 |
9,682,709 (GRCm39) |
missense |
probably benign |
0.43 |
|
R3792:Spef2
|
UTSW |
15 |
9,704,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4154:Spef2
|
UTSW |
15 |
9,626,107 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4159:Spef2
|
UTSW |
15 |
9,676,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4199:Spef2
|
UTSW |
15 |
9,667,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4320:Spef2
|
UTSW |
15 |
9,679,429 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4321:Spef2
|
UTSW |
15 |
9,679,429 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4568:Spef2
|
UTSW |
15 |
9,647,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4625:Spef2
|
UTSW |
15 |
9,647,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Spef2
|
UTSW |
15 |
9,676,459 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4684:Spef2
|
UTSW |
15 |
9,647,576 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4761:Spef2
|
UTSW |
15 |
9,653,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4839:Spef2
|
UTSW |
15 |
9,713,264 (GRCm39) |
nonsense |
probably null |
|
|
R5004:Spef2
|
UTSW |
15 |
9,578,413 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5157:Spef2
|
UTSW |
15 |
9,668,877 (GRCm39) |
nonsense |
probably null |
|
|
R5230:Spef2
|
UTSW |
15 |
9,667,316 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5315:Spef2
|
UTSW |
15 |
9,596,777 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5400:Spef2
|
UTSW |
15 |
9,614,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5591:Spef2
|
UTSW |
15 |
9,583,922 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5599:Spef2
|
UTSW |
15 |
9,729,789 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5605:Spef2
|
UTSW |
15 |
9,609,606 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5787:Spef2
|
UTSW |
15 |
9,748,812 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5939:Spef2
|
UTSW |
15 |
9,614,301 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6177:Spef2
|
UTSW |
15 |
9,727,618 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6641:Spef2
|
UTSW |
15 |
9,626,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6665:Spef2
|
UTSW |
15 |
9,600,604 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6944:Spef2
|
UTSW |
15 |
9,592,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6956:Spef2
|
UTSW |
15 |
9,685,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6968:Spef2
|
UTSW |
15 |
9,597,426 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7089:Spef2
|
UTSW |
15 |
9,725,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7117:Spef2
|
UTSW |
15 |
9,729,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7161:Spef2
|
UTSW |
15 |
9,717,689 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7223:Spef2
|
UTSW |
15 |
9,601,726 (GRCm39) |
missense |
unknown |
|
|
R7263:Spef2
|
UTSW |
15 |
9,653,098 (GRCm39) |
splice site |
probably null |
|
|
R7270:Spef2
|
UTSW |
15 |
9,600,066 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7303:Spef2
|
UTSW |
15 |
9,647,576 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7369:Spef2
|
UTSW |
15 |
9,584,293 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7464:Spef2
|
UTSW |
15 |
9,740,671 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7498:Spef2
|
UTSW |
15 |
9,727,625 (GRCm39) |
missense |
probably benign |
|
|
R7587:Spef2
|
UTSW |
15 |
9,713,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Spef2
|
UTSW |
15 |
9,653,031 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7772:Spef2
|
UTSW |
15 |
9,704,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7838:Spef2
|
UTSW |
15 |
9,609,637 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7854:Spef2
|
UTSW |
15 |
9,596,730 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7855:Spef2
|
UTSW |
15 |
9,687,981 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7889:Spef2
|
UTSW |
15 |
9,717,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7943:Spef2
|
UTSW |
15 |
9,601,171 (GRCm39) |
missense |
unknown |
|
|
R8105:Spef2
|
UTSW |
15 |
9,682,748 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8151:Spef2
|
UTSW |
15 |
9,601,598 (GRCm39) |
missense |
unknown |
|
|
R8296:Spef2
|
UTSW |
15 |
9,727,629 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8393:Spef2
|
UTSW |
15 |
9,676,615 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8405:Spef2
|
UTSW |
15 |
9,612,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8552:Spef2
|
UTSW |
15 |
9,600,765 (GRCm39) |
intron |
probably benign |
|
|
R8691:Spef2
|
UTSW |
15 |
9,602,005 (GRCm39) |
nonsense |
probably null |
|
|
R8751:Spef2
|
UTSW |
15 |
9,729,723 (GRCm39) |
nonsense |
probably null |
|
|
R8847:Spef2
|
UTSW |
15 |
9,668,913 (GRCm39) |
missense |
probably benign |
|
|
R8864:Spef2
|
UTSW |
15 |
9,599,833 (GRCm39) |
missense |
unknown |
|
|
R8868:Spef2
|
UTSW |
15 |
9,729,747 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8916:Spef2
|
UTSW |
15 |
9,725,266 (GRCm39) |
nonsense |
probably null |
|
|
R8935:Spef2
|
UTSW |
15 |
9,607,436 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8961:Spef2
|
UTSW |
15 |
9,647,414 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8978:Spef2
|
UTSW |
15 |
9,725,263 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9062:Spef2
|
UTSW |
15 |
9,601,717 (GRCm39) |
missense |
unknown |
|
|
R9076:Spef2
|
UTSW |
15 |
9,653,091 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9149:Spef2
|
UTSW |
15 |
9,717,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9162:Spef2
|
UTSW |
15 |
9,602,017 (GRCm39) |
missense |
unknown |
|
|
R9216:Spef2
|
UTSW |
15 |
9,647,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9240:Spef2
|
UTSW |
15 |
9,578,401 (GRCm39) |
nonsense |
probably null |
|
|
R9278:Spef2
|
UTSW |
15 |
9,727,495 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9341:Spef2
|
UTSW |
15 |
9,713,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9343:Spef2
|
UTSW |
15 |
9,713,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9389:Spef2
|
UTSW |
15 |
9,725,307 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9476:Spef2
|
UTSW |
15 |
9,713,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9510:Spef2
|
UTSW |
15 |
9,713,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9537:Spef2
|
UTSW |
15 |
9,601,885 (GRCm39) |
missense |
unknown |
|
|
R9575:Spef2
|
UTSW |
15 |
9,596,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9597:Spef2
|
UTSW |
15 |
9,599,897 (GRCm39) |
missense |
unknown |
|
|
R9765:Spef2
|
UTSW |
15 |
9,601,945 (GRCm39) |
missense |
unknown |
|
|
X0025:Spef2
|
UTSW |
15 |
9,596,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTCTAAGAAGCAAGGGTGGAACC -3'
(R):5'- CGTTCTCGTTTGATGGCACCAAC -3'
Sequencing Primer
(F):5'- ggctgccacatgtaacctc -3'
(R):5'- GATGGCACCAACATGTACTTTATCAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation