Incidental Mutation 'R7748:Spef2'
ID |
597051 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spef2
|
Ensembl Gene |
ENSMUSG00000072663 |
Gene Name |
sperm flagellar 2 |
Synonyms |
C230086A09Rik |
MMRRC Submission |
045804-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R7748 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
9578279-9748954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 9653031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 917
(V917M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146967
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160236]
[ENSMUST00000208854]
|
AlphaFold |
Q8C9J3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160236
AA Change: V917M
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124222 Gene: ENSMUSG00000072663 AA Change: V917M
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 |
probably damaging
Transcript: ENSMUST00000208854
AA Change: V917M
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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: 111 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057M21Rik |
T |
A |
7: 130,963,521 (GRCm39) |
L103F |
probably benign |
Het |
5330417H12Rik |
A |
G |
7: 107,223,765 (GRCm39) |
L103P |
unknown |
Het |
Actb |
T |
C |
5: 142,890,450 (GRCm39) |
I151V |
probably benign |
Het |
Adcy6 |
T |
A |
15: 98,502,437 (GRCm39) |
H59L |
probably benign |
Het |
Adss2 |
G |
C |
1: 177,599,768 (GRCm39) |
S272* |
probably null |
Het |
Aga |
A |
T |
8: 53,964,840 (GRCm39) |
M1L |
possibly damaging |
Het |
Ajm1 |
T |
A |
2: 25,468,971 (GRCm39) |
E313D |
possibly damaging |
Het |
Anxa5 |
G |
A |
3: 36,519,480 (GRCm39) |
T3M |
probably damaging |
Het |
Arhgap45 |
A |
T |
10: 79,852,766 (GRCm39) |
|
probably benign |
Het |
Atp6v0a2 |
A |
T |
5: 124,793,560 (GRCm39) |
H639L |
probably benign |
Het |
BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
Bcl2l2 |
C |
T |
14: 55,121,836 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,013,484 (GRCm39) |
|
probably null |
Het |
Bod1l |
A |
C |
5: 41,989,683 (GRCm39) |
S347A |
probably damaging |
Het |
Calcoco1 |
T |
C |
15: 102,627,996 (GRCm39) |
D46G |
probably damaging |
Het |
Camk1 |
T |
C |
6: 113,317,289 (GRCm39) |
E60G |
probably damaging |
Het |
Capza1 |
A |
T |
3: 104,732,721 (GRCm39) |
|
probably null |
Het |
Ccdc18 |
T |
A |
5: 108,296,907 (GRCm39) |
|
probably null |
Het |
Cdh20 |
G |
A |
1: 104,869,024 (GRCm39) |
A172T |
probably damaging |
Het |
Cdk4 |
C |
T |
10: 126,900,298 (GRCm39) |
A65V |
possibly damaging |
Het |
Cftr |
T |
C |
6: 18,277,888 (GRCm39) |
|
probably null |
Het |
Chd3 |
T |
C |
11: 69,246,459 (GRCm39) |
M1092V |
probably benign |
Het |
Chd6 |
A |
T |
2: 160,808,539 (GRCm39) |
H1558Q |
probably benign |
Het |
Chi3l1 |
A |
G |
1: 134,116,966 (GRCm39) |
H318R |
probably benign |
Het |
Cps1 |
A |
G |
1: 67,178,965 (GRCm39) |
Y59C |
probably damaging |
Het |
Cyb5r4 |
T |
C |
9: 86,914,434 (GRCm39) |
V111A |
probably damaging |
Het |
Ddx39b |
G |
A |
17: 35,471,726 (GRCm39) |
V291M |
probably damaging |
Het |
Dhx57 |
A |
G |
17: 80,572,546 (GRCm39) |
F709S |
probably damaging |
Het |
Eef1b2 |
A |
T |
1: 63,217,024 (GRCm39) |
K64N |
probably damaging |
Het |
Eef1ece2 |
A |
T |
16: 20,451,834 (GRCm39) |
D407V |
probably damaging |
Het |
Fam135a |
A |
G |
1: 24,068,050 (GRCm39) |
S940P |
probably benign |
Het |
Fam234b |
T |
A |
6: 135,186,349 (GRCm39) |
V119E |
probably damaging |
Het |
Fbxo46 |
G |
C |
7: 18,870,458 (GRCm39) |
C359S |
probably damaging |
Het |
Fkbp14 |
C |
A |
6: 54,572,505 (GRCm39) |
|
probably benign |
Het |
Fmn2 |
T |
A |
1: 174,494,215 (GRCm39) |
V1243E |
probably damaging |
Het |
Fsbp |
C |
A |
4: 11,579,924 (GRCm39) |
T64K |
probably damaging |
Het |
Fscb |
A |
T |
12: 64,521,181 (GRCm39) |
M95K |
probably benign |
Het |
Fyb1 |
T |
G |
15: 6,668,307 (GRCm39) |
V500G |
probably damaging |
Het |
G2e3 |
A |
G |
12: 51,418,450 (GRCm39) |
N615S |
probably benign |
Het |
Gart |
T |
C |
16: 91,427,540 (GRCm39) |
D486G |
possibly damaging |
Het |
Gas2l2 |
T |
A |
11: 83,313,224 (GRCm39) |
D696V |
probably benign |
Het |
Glmn |
C |
T |
5: 107,710,110 (GRCm39) |
|
probably null |
Het |
Gm47985 |
A |
T |
1: 151,058,725 (GRCm39) |
D122V |
probably damaging |
Het |
Gm7168 |
A |
G |
17: 14,168,914 (GRCm39) |
K94E |
probably benign |
Het |
Gnai2 |
T |
C |
9: 107,492,934 (GRCm39) |
H323R |
|
Het |
Helz2 |
C |
T |
2: 180,876,324 (GRCm39) |
R1390H |
probably damaging |
Het |
Igf2bp1 |
T |
C |
11: 95,858,413 (GRCm39) |
M453V |
probably benign |
Het |
Ighv3-1 |
C |
T |
12: 113,928,270 (GRCm39) |
V30M |
probably damaging |
Het |
Inpp5a |
A |
T |
7: 139,154,911 (GRCm39) |
R343S |
probably damaging |
Het |
Itga8 |
T |
A |
2: 12,235,050 (GRCm39) |
I403F |
possibly damaging |
Het |
Katnip |
A |
T |
7: 125,428,973 (GRCm39) |
M558L |
probably benign |
Het |
Krt33a |
C |
T |
11: 99,902,428 (GRCm39) |
R404H |
probably benign |
Het |
Krt34 |
T |
A |
11: 99,929,764 (GRCm39) |
E244V |
probably damaging |
Het |
Krt42 |
T |
C |
11: 100,157,792 (GRCm39) |
E224G |
probably damaging |
Het |
Krtap5-2 |
TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA |
TCCACAGGAACTACA |
7: 141,728,845 (GRCm39) |
|
probably benign |
Het |
Lama1 |
T |
C |
17: 68,057,585 (GRCm39) |
L553P |
|
Het |
Lcn9 |
T |
A |
2: 25,714,926 (GRCm39) |
*179K |
probably null |
Het |
Ldaf1 |
A |
T |
7: 119,714,702 (GRCm39) |
I64F |
possibly damaging |
Het |
Lrrc2 |
T |
G |
9: 110,809,999 (GRCm39) |
M345R |
possibly damaging |
Het |
Marchf11 |
T |
C |
15: 26,387,916 (GRCm39) |
V257A |
probably damaging |
Het |
Masp2 |
T |
C |
4: 148,690,163 (GRCm39) |
I224T |
probably benign |
Het |
Mpz |
A |
T |
1: 170,987,509 (GRCm39) |
|
probably null |
Het |
Mtr |
C |
T |
13: 12,242,725 (GRCm39) |
A442T |
probably benign |
Het |
Muc5b |
A |
G |
7: 141,401,542 (GRCm39) |
K596R |
unknown |
Het |
Myo15a |
T |
G |
11: 60,395,727 (GRCm39) |
F1397C |
|
Het |
Ncor2 |
T |
C |
5: 125,187,031 (GRCm39) |
I173V |
unknown |
Het |
Ngly1 |
T |
A |
14: 16,290,820 (GRCm38) |
I434K |
possibly damaging |
Het |
Notch2 |
A |
G |
3: 98,045,800 (GRCm39) |
H1655R |
possibly damaging |
Het |
Notum |
C |
T |
11: 120,545,627 (GRCm39) |
A390T |
probably damaging |
Het |
Or10a3n |
T |
C |
7: 108,493,285 (GRCm39) |
T115A |
probably benign |
Het |
Or1e22 |
T |
G |
11: 73,376,994 (GRCm39) |
I219L |
probably benign |
Het |
Pds5a |
T |
A |
5: 65,777,009 (GRCm39) |
I51F |
possibly damaging |
Het |
Pdzd2 |
C |
A |
15: 12,385,872 (GRCm39) |
R966L |
possibly damaging |
Het |
Plk3 |
T |
C |
4: 116,988,925 (GRCm39) |
Y278C |
probably damaging |
Het |
Plxna1 |
C |
G |
6: 89,314,334 (GRCm39) |
|
probably null |
Het |
Plxna1 |
T |
A |
6: 89,314,335 (GRCm39) |
|
probably null |
Het |
Ppp4r4 |
G |
A |
12: 103,571,320 (GRCm39) |
|
probably null |
Het |
Pramel6 |
T |
A |
2: 87,339,043 (GRCm39) |
V81E |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,862,459 (GRCm39) |
E277G |
possibly damaging |
Het |
Prkg1 |
T |
A |
19: 30,970,491 (GRCm39) |
I222F |
possibly damaging |
Het |
Proser3 |
A |
T |
7: 30,239,497 (GRCm39) |
S536T |
possibly damaging |
Het |
Prrt4 |
C |
A |
6: 29,177,190 (GRCm39) |
G193V |
probably damaging |
Het |
Ptpn21 |
A |
T |
12: 98,655,031 (GRCm39) |
H645Q |
probably benign |
Het |
Ptprd |
T |
C |
4: 76,017,741 (GRCm39) |
I744V |
probably null |
Het |
Rad54l2 |
A |
G |
9: 106,596,233 (GRCm39) |
V235A |
possibly damaging |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Rgs22 |
C |
T |
15: 36,122,415 (GRCm39) |
|
probably null |
Het |
Rtcb |
A |
T |
10: 85,777,832 (GRCm39) |
D447E |
probably benign |
Het |
Rtn1 |
C |
T |
12: 72,263,700 (GRCm39) |
V744I |
possibly damaging |
Het |
Scfd1 |
T |
G |
12: 51,436,140 (GRCm39) |
I96M |
probably benign |
Het |
Serpina3b |
T |
C |
12: 104,096,722 (GRCm39) |
M1T |
probably null |
Het |
Slc1a4 |
T |
C |
11: 20,282,252 (GRCm39) |
Y74C |
probably damaging |
Het |
Slc9b2 |
A |
T |
3: 135,031,940 (GRCm39) |
I267F |
possibly damaging |
Het |
Sorcs2 |
A |
T |
5: 36,386,519 (GRCm39) |
M173K |
possibly damaging |
Het |
Sparc |
T |
C |
11: 55,289,426 (GRCm39) |
I226V |
probably benign |
Het |
Spata22 |
T |
G |
11: 73,227,080 (GRCm39) |
I98S |
probably null |
Het |
Sspo |
C |
A |
6: 48,426,399 (GRCm39) |
C139* |
probably null |
Het |
Tenm4 |
A |
G |
7: 96,543,909 (GRCm39) |
D2012G |
probably damaging |
Het |
Tgm5 |
G |
A |
2: 120,883,289 (GRCm39) |
R351C |
probably damaging |
Het |
Tmem145 |
G |
A |
7: 25,006,753 (GRCm39) |
W82* |
probably null |
Het |
Topors |
T |
A |
4: 40,262,654 (GRCm39) |
D210V |
probably damaging |
Het |
Tssk4 |
A |
T |
14: 55,888,569 (GRCm39) |
H146L |
probably damaging |
Het |
Unc93b1 |
T |
A |
19: 3,985,250 (GRCm39) |
D19E |
unknown |
Het |
Usp17lc |
A |
G |
7: 103,067,688 (GRCm39) |
T328A |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,490,252 (GRCm39) |
Y43H |
probably benign |
Het |
Vmn1r25 |
T |
A |
6: 57,955,549 (GRCm39) |
I247F |
probably damaging |
Het |
Vmn2r78 |
A |
T |
7: 86,570,343 (GRCm39) |
Q287L |
probably benign |
Het |
Vps13c |
T |
A |
9: 67,870,371 (GRCm39) |
I3170N |
probably benign |
Het |
Zfc3h1 |
T |
A |
10: 115,236,720 (GRCm39) |
M398K |
probably benign |
Het |
Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
Zfp773 |
T |
C |
7: 7,135,907 (GRCm39) |
R230G |
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 |
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 |
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'- CACTTCAATAAGGTGGACTAAATCCC -3'
(R):5'- TCAGATACCTGTCCGGCTTATC -3'
Sequencing Primer
(F):5'- GGACTAAATCCCTGATCTTCTGC -3'
(R):5'- AGATACCTGTCCGGCTTATCTTCTTG -3'
|
Posted On |
2019-11-26 |