Incidental Mutation 'R1902:Spef2'
ID |
212392 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spef2
|
Ensembl Gene |
ENSMUSG00000072663 |
Gene Name |
sperm flagellar 2 |
Synonyms |
C230086A09Rik |
MMRRC Submission |
039922-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R1902 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
9578279-9748954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 9607463 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 1319
(R1319S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124222
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160236]
[ENSMUST00000208854]
|
AlphaFold |
Q8C9J3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159288
AA Change: R1329S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000125336 Gene: ENSMUSG00000072663 AA Change: R1329S
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: R1319S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124222 Gene: ENSMUSG00000072663 AA Change: R1319S
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 |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208854
AA Change: R1319S
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 94.9%
- 20x: 91.7%
|
Validation Efficiency |
|
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: 128 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730507C01Rik |
C |
T |
12: 18,584,004 (GRCm39) |
Q355* |
probably null |
Het |
Acacb |
A |
T |
5: 114,303,795 (GRCm39) |
R73* |
probably null |
Het |
Adra1a |
T |
C |
14: 66,875,684 (GRCm39) |
S220P |
probably benign |
Het |
Ano2 |
A |
T |
6: 125,849,647 (GRCm39) |
E126D |
probably damaging |
Het |
Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
Arhgap45 |
C |
A |
10: 79,861,300 (GRCm39) |
Q488K |
probably damaging |
Het |
Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
Atxn7l3b |
A |
G |
10: 112,764,578 (GRCm39) |
I17T |
probably benign |
Het |
Bpifb9a |
A |
T |
2: 154,103,911 (GRCm39) |
N118I |
probably benign |
Het |
Btbd9 |
A |
T |
17: 30,749,202 (GRCm39) |
D37E |
probably damaging |
Het |
C8a |
T |
C |
4: 104,713,798 (GRCm39) |
|
probably null |
Het |
Capn13 |
G |
A |
17: 73,633,356 (GRCm39) |
S535F |
probably damaging |
Het |
Carns1 |
G |
T |
19: 4,216,337 (GRCm39) |
P615Q |
probably damaging |
Het |
Casz1 |
T |
C |
4: 149,020,652 (GRCm39) |
I479T |
possibly damaging |
Het |
Ccdc88a |
G |
T |
11: 29,411,788 (GRCm39) |
M532I |
probably benign |
Het |
Cdc42bpb |
T |
G |
12: 111,292,450 (GRCm39) |
S362R |
probably damaging |
Het |
Ceacam11 |
A |
T |
7: 17,709,252 (GRCm39) |
H150L |
probably benign |
Het |
Cfap44 |
A |
C |
16: 44,242,737 (GRCm39) |
T714P |
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,469,749 (GRCm39) |
I1369V |
possibly damaging |
Het |
Cpeb1 |
T |
C |
7: 81,021,867 (GRCm39) |
D92G |
probably benign |
Het |
Cped1 |
T |
A |
6: 22,120,980 (GRCm39) |
|
probably null |
Het |
Csf1r |
A |
G |
18: 61,263,213 (GRCm39) |
T896A |
probably damaging |
Het |
Csf3r |
T |
C |
4: 125,936,711 (GRCm39) |
F658S |
probably damaging |
Het |
Cts6 |
A |
T |
13: 61,349,329 (GRCm39) |
Y126* |
probably null |
Het |
Cul7 |
T |
C |
17: 46,966,666 (GRCm39) |
L365P |
probably damaging |
Het |
Cxcl5 |
T |
C |
5: 90,907,644 (GRCm39) |
V72A |
probably damaging |
Het |
Cyp4v3 |
T |
A |
8: 45,759,989 (GRCm39) |
H521L |
probably benign |
Het |
Dct |
T |
C |
14: 118,271,690 (GRCm39) |
N380S |
probably benign |
Het |
Dnah1 |
T |
C |
14: 31,041,716 (GRCm39) |
D85G |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,574,637 (GRCm39) |
D1709G |
probably damaging |
Het |
Dnai1 |
A |
T |
4: 41,625,319 (GRCm39) |
K428* |
probably null |
Het |
Dsc1 |
A |
T |
18: 20,229,045 (GRCm39) |
V415D |
probably damaging |
Het |
E2f8 |
T |
C |
7: 48,520,920 (GRCm39) |
H467R |
probably benign |
Het |
Eddm3b |
T |
A |
14: 51,354,321 (GRCm39) |
I103N |
probably damaging |
Het |
Gal3st2c |
T |
G |
1: 93,936,611 (GRCm39) |
N185K |
probably damaging |
Het |
Ganc |
T |
C |
2: 120,276,963 (GRCm39) |
L675P |
probably damaging |
Het |
Garin3 |
A |
T |
11: 46,297,838 (GRCm39) |
T381S |
probably benign |
Het |
Gdf9 |
G |
A |
11: 53,327,780 (GRCm39) |
M245I |
probably benign |
Het |
Gm21886 |
G |
A |
18: 80,132,633 (GRCm39) |
T175I |
probably damaging |
Het |
Gria2 |
A |
G |
3: 80,629,415 (GRCm39) |
L269P |
probably damaging |
Het |
Grm8 |
T |
C |
6: 27,429,481 (GRCm39) |
Y471C |
probably damaging |
Het |
Gucy2g |
T |
A |
19: 55,198,669 (GRCm39) |
T825S |
probably benign |
Het |
H2-T13 |
A |
T |
17: 36,394,845 (GRCm39) |
M16K |
probably damaging |
Het |
Iffo2 |
T |
C |
4: 139,335,012 (GRCm39) |
S124P |
probably damaging |
Het |
Igf1r |
T |
C |
7: 67,850,997 (GRCm39) |
Y931H |
possibly damaging |
Het |
Il22ra1 |
A |
T |
4: 135,478,219 (GRCm39) |
Q430L |
probably damaging |
Het |
Il23r |
A |
C |
6: 67,400,718 (GRCm39) |
D537E |
probably benign |
Het |
Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
Itgb4 |
T |
C |
11: 115,871,564 (GRCm39) |
V179A |
probably damaging |
Het |
Itpr2 |
T |
A |
6: 146,131,201 (GRCm39) |
H1968L |
probably damaging |
Het |
Kdm4a |
A |
G |
4: 118,017,596 (GRCm39) |
V490A |
probably benign |
Het |
Kif13a |
A |
T |
13: 46,941,638 (GRCm39) |
D946E |
probably benign |
Het |
Klhl22 |
T |
A |
16: 17,589,651 (GRCm39) |
I104N |
probably damaging |
Het |
Klk6 |
A |
C |
7: 43,475,481 (GRCm39) |
M1L |
probably benign |
Het |
Krt78 |
A |
T |
15: 101,855,398 (GRCm39) |
C804* |
probably null |
Het |
Larp7 |
A |
T |
3: 127,334,227 (GRCm39) |
N533K |
probably damaging |
Het |
Lrit3 |
T |
C |
3: 129,584,895 (GRCm39) |
T288A |
probably benign |
Het |
Lrp11 |
T |
A |
10: 7,499,544 (GRCm39) |
L245Q |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,750,673 (GRCm39) |
S2964G |
probably damaging |
Het |
Lrrc66 |
C |
T |
5: 73,764,965 (GRCm39) |
V693M |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,364,958 (GRCm39) |
M3268L |
probably benign |
Het |
Mad1l1 |
A |
G |
5: 140,289,443 (GRCm39) |
S161P |
possibly damaging |
Het |
Mettl25 |
A |
G |
10: 105,661,948 (GRCm39) |
S341P |
probably damaging |
Het |
Morc3 |
A |
G |
16: 93,667,385 (GRCm39) |
T588A |
probably damaging |
Het |
Mospd3 |
A |
G |
5: 137,598,677 (GRCm39) |
S21P |
probably damaging |
Het |
Mrpl57 |
T |
A |
14: 58,064,186 (GRCm39) |
F71L |
probably damaging |
Het |
Mtbp |
T |
C |
15: 55,470,111 (GRCm39) |
L594S |
probably damaging |
Het |
Mthfd2 |
T |
C |
6: 83,283,713 (GRCm39) |
N323S |
probably damaging |
Het |
Muc5b |
G |
T |
7: 141,417,842 (GRCm39) |
S3596I |
possibly damaging |
Het |
Mug1 |
A |
G |
6: 121,858,780 (GRCm39) |
D1166G |
probably benign |
Het |
Nav1 |
T |
G |
1: 135,400,148 (GRCm39) |
N474T |
probably benign |
Het |
Ncoa1 |
A |
T |
12: 4,389,049 (GRCm39) |
D75E |
possibly damaging |
Het |
Ncor1 |
A |
C |
11: 62,228,984 (GRCm39) |
I958S |
probably damaging |
Het |
Nefm |
T |
C |
14: 68,361,563 (GRCm39) |
S234G |
probably benign |
Het |
Nlrp4c |
T |
C |
7: 6,068,818 (GRCm39) |
S240P |
probably damaging |
Het |
Nox3 |
C |
T |
17: 3,720,292 (GRCm39) |
V298M |
probably damaging |
Het |
Ntn4 |
A |
G |
10: 93,543,234 (GRCm39) |
D320G |
possibly damaging |
Het |
Nudt13 |
C |
G |
14: 20,360,709 (GRCm39) |
T174R |
probably damaging |
Het |
Odr4 |
T |
A |
1: 150,264,360 (GRCm39) |
|
probably null |
Het |
Opn1sw |
T |
A |
6: 29,379,803 (GRCm39) |
N144Y |
possibly damaging |
Het |
Or10al3 |
T |
A |
17: 38,012,312 (GRCm39) |
H250Q |
probably damaging |
Het |
Or10g3 |
T |
G |
14: 52,610,174 (GRCm39) |
Q112P |
possibly damaging |
Het |
Or1l8 |
T |
C |
2: 36,817,197 (GRCm39) |
I310V |
probably benign |
Het |
Or2a52 |
T |
A |
6: 43,144,657 (GRCm39) |
|
probably null |
Het |
Or4a72 |
A |
T |
2: 89,405,947 (GRCm39) |
L41Q |
possibly damaging |
Het |
Or5ac25 |
A |
T |
16: 59,182,526 (GRCm39) |
D18E |
probably benign |
Het |
Or5g25 |
T |
C |
2: 85,478,201 (GRCm39) |
S155G |
possibly damaging |
Het |
Or6c216 |
G |
T |
10: 129,678,375 (GRCm39) |
P179T |
probably benign |
Het |
Or6n2 |
T |
C |
1: 173,897,692 (GRCm39) |
V276A |
probably damaging |
Het |
Or8g4 |
T |
C |
9: 39,662,102 (GRCm39) |
V140A |
probably benign |
Het |
Osbpl5 |
T |
C |
7: 143,256,918 (GRCm39) |
D404G |
possibly damaging |
Het |
Parp14 |
C |
T |
16: 35,673,888 (GRCm39) |
|
probably null |
Het |
Pde3a |
C |
A |
6: 141,444,496 (GRCm39) |
N1101K |
probably benign |
Het |
Plcb1 |
G |
A |
2: 134,655,533 (GRCm39) |
V38I |
possibly damaging |
Het |
Plec |
T |
A |
15: 76,059,751 (GRCm39) |
E3417D |
probably damaging |
Het |
Ppfibp2 |
C |
T |
7: 107,345,585 (GRCm39) |
P869L |
probably damaging |
Het |
Ppp1r12a |
T |
A |
10: 108,034,752 (GRCm39) |
I99N |
probably damaging |
Het |
Pramel5 |
G |
A |
4: 144,000,433 (GRCm39) |
Q48* |
probably null |
Het |
Prr13 |
C |
A |
15: 102,369,133 (GRCm39) |
|
probably benign |
Het |
Psg22 |
T |
A |
7: 18,458,363 (GRCm39) |
Y312* |
probably null |
Het |
Ptchd4 |
A |
T |
17: 42,814,507 (GRCm39) |
I803L |
probably benign |
Het |
Rasa4 |
A |
G |
5: 136,120,092 (GRCm39) |
D56G |
probably benign |
Het |
Rif1 |
T |
A |
2: 52,006,685 (GRCm39) |
N2206K |
possibly damaging |
Het |
Robo1 |
A |
G |
16: 72,757,092 (GRCm39) |
Q351R |
probably null |
Het |
Samd4 |
T |
C |
14: 47,311,585 (GRCm39) |
F81S |
probably damaging |
Het |
Sh3pxd2b |
T |
C |
11: 32,373,559 (GRCm39) |
*909Q |
probably null |
Het |
Slc25a45 |
A |
G |
19: 5,934,550 (GRCm39) |
R173G |
probably damaging |
Het |
Smarca1 |
G |
A |
X: 46,938,840 (GRCm39) |
Q723* |
probably null |
Het |
Smoc1 |
T |
C |
12: 81,151,445 (GRCm39) |
I54T |
probably benign |
Het |
Steap3 |
T |
G |
1: 120,169,464 (GRCm39) |
I240L |
probably benign |
Het |
Stmn4 |
C |
T |
14: 66,593,058 (GRCm39) |
L13F |
probably damaging |
Het |
Stxbp5 |
C |
A |
10: 9,688,042 (GRCm39) |
V420F |
possibly damaging |
Het |
Syt3 |
T |
C |
7: 44,039,940 (GRCm39) |
S58P |
possibly damaging |
Het |
Tas2r125 |
T |
C |
6: 132,887,139 (GRCm39) |
F176L |
probably benign |
Het |
Tbc1d19 |
T |
A |
5: 53,986,695 (GRCm39) |
C35S |
probably benign |
Het |
Tcaf3 |
T |
C |
6: 42,570,486 (GRCm39) |
E422G |
possibly damaging |
Het |
Tekt4 |
T |
A |
17: 25,690,832 (GRCm39) |
F46Y |
possibly damaging |
Het |
Tnfaip3 |
T |
C |
10: 18,883,937 (GRCm39) |
K148E |
probably benign |
Het |
Trrap |
T |
G |
5: 144,752,863 (GRCm39) |
I1813R |
probably damaging |
Het |
Ttc29 |
A |
G |
8: 78,978,361 (GRCm39) |
E137G |
probably benign |
Het |
Tubgcp6 |
C |
A |
15: 89,000,444 (GRCm39) |
R307L |
possibly damaging |
Het |
Tyro3 |
T |
C |
2: 119,632,176 (GRCm39) |
I81T |
possibly damaging |
Het |
Upp2 |
T |
G |
2: 58,661,464 (GRCm39) |
M71R |
probably damaging |
Het |
Utp20 |
G |
T |
10: 88,588,888 (GRCm39) |
T2427K |
probably benign |
Het |
Vcl |
T |
A |
14: 21,032,767 (GRCm39) |
L122Q |
probably damaging |
Het |
Vmn1r213 |
A |
C |
13: 23,196,476 (GRCm39) |
N353T |
possibly damaging |
Het |
Vwa5b2 |
G |
T |
16: 20,423,582 (GRCm39) |
S1165I |
possibly damaging |
Het |
Zfp869 |
T |
C |
8: 70,160,088 (GRCm39) |
K162E |
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 |
|
R0617:Spef2
|
UTSW |
15 |
9,592,844 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- ATCTCGAAGATTATCAAGCTGTTCG -3'
(R):5'- ACTAGAAGCCACTCCTCTGC -3'
Sequencing Primer
(F):5'- CAAGCTGTTCGATTGTTAGGGTACC -3'
(R):5'- CTCTGCCAGGTGTGTCTTAAGTAAC -3'
|
Posted On |
2014-06-30 |