Incidental Mutation 'R3151:Spata31d1a'
| ID |
264422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1a
|
| Ensembl Gene |
ENSMUSG00000050876 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1A |
| Synonyms |
1700013B16Rik, Fam75d3, Fam75d1a |
| MMRRC Submission |
040603-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R3151 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59847897-59854401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59849180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 983
(S983G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066510]
[ENSMUST00000224469]
[ENSMUST00000224982]
|
| AlphaFold |
E9QA35 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066510
AA Change: S983G
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: S983G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
Pfam:DUF4599
|
66 |
150 |
3.7e-25 |
PFAM |
|
low complexity region
|
196 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
266 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
400 |
772 |
2.9e-108 |
PFAM |
|
low complexity region
|
1144 |
1154 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224469
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224982
AA Change: S983G
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225362
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
G |
8: 25,271,647 (GRCm39) |
Y587H |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,987,308 (GRCm39) |
V2864A |
probably benign |
Het |
| Ano2 |
G |
A |
6: 125,990,280 (GRCm39) |
|
probably null |
Het |
| Arl5c |
A |
G |
11: 97,883,159 (GRCm39) |
I147T |
probably damaging |
Het |
| Asap2 |
T |
A |
12: 21,274,378 (GRCm39) |
F369I |
probably damaging |
Het |
| Atg4a-ps |
A |
G |
3: 103,553,228 (GRCm39) |
F38L |
probably benign |
Het |
| B230217C12Rik |
TGTGTCG |
TG |
11: 97,733,014 (GRCm39) |
|
probably null |
Het |
| Cacna1s |
A |
T |
1: 136,033,532 (GRCm39) |
Y1003F |
probably damaging |
Het |
| Ccdc178 |
A |
T |
18: 21,944,618 (GRCm39) |
M847K |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,621,272 (GRCm39) |
K601E |
probably benign |
Het |
| Cnih4 |
A |
G |
1: 180,981,292 (GRCm39) |
|
probably benign |
Het |
| Cnpy3 |
A |
T |
17: 47,058,452 (GRCm39) |
V57E |
probably damaging |
Het |
| Creb3l1 |
T |
A |
2: 91,832,378 (GRCm39) |
E48V |
probably damaging |
Het |
| Dus3l |
T |
A |
17: 57,075,899 (GRCm39) |
F482I |
probably benign |
Het |
| Dync1i2 |
A |
G |
2: 71,064,060 (GRCm39) |
|
probably benign |
Het |
| Echdc1 |
A |
G |
10: 29,198,360 (GRCm39) |
T102A |
possibly damaging |
Het |
| Elf1 |
G |
A |
14: 79,804,755 (GRCm39) |
|
probably null |
Het |
| Elp1 |
T |
C |
4: 56,770,985 (GRCm39) |
Y986C |
probably benign |
Het |
| Ep400 |
G |
T |
5: 110,851,435 (GRCm39) |
T1349N |
unknown |
Het |
| Eps15 |
T |
A |
4: 109,223,419 (GRCm39) |
D458E |
probably benign |
Het |
| F2rl2 |
G |
A |
13: 95,837,638 (GRCm39) |
V228I |
probably benign |
Het |
| Fads3 |
T |
G |
19: 10,035,262 (GRCm39) |
S438A |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,816,665 (GRCm39) |
C2376S |
probably damaging |
Het |
| Fndc3b |
A |
G |
3: 27,473,652 (GRCm39) |
S1138P |
possibly damaging |
Het |
| Ggt5 |
T |
C |
10: 75,445,076 (GRCm39) |
I361T |
probably benign |
Het |
| Gpr158 |
C |
T |
2: 21,581,771 (GRCm39) |
R417W |
possibly damaging |
Het |
| Gria1 |
A |
G |
11: 57,174,388 (GRCm39) |
I626V |
probably damaging |
Het |
| Gys2 |
T |
C |
6: 142,402,059 (GRCm39) |
E260G |
probably benign |
Het |
| Ido2 |
T |
A |
8: 25,023,776 (GRCm39) |
Y354F |
possibly damaging |
Het |
| Igkv6-23 |
A |
G |
6: 70,237,543 (GRCm39) |
L66P |
probably benign |
Het |
| Kremen1 |
T |
C |
11: 5,145,012 (GRCm39) |
K455E |
probably damaging |
Het |
| Krtap19-9b |
T |
C |
16: 88,729,096 (GRCm39) |
S2G |
unknown |
Het |
| Magea1 |
A |
T |
X: 153,872,093 (GRCm39) |
M211K |
probably benign |
Het |
| Mtx2 |
G |
A |
2: 74,677,634 (GRCm39) |
|
probably null |
Het |
| Nlrp14 |
G |
A |
7: 106,781,759 (GRCm39) |
V319I |
probably benign |
Het |
| Nphs1 |
A |
T |
7: 30,159,665 (GRCm39) |
T33S |
probably benign |
Het |
| Or12j2 |
A |
T |
7: 139,916,243 (GRCm39) |
H156L |
probably benign |
Het |
| Or2t6 |
T |
A |
14: 14,175,203 (GRCm38) |
N293I |
probably damaging |
Het |
| Or3a1c |
A |
T |
11: 74,046,466 (GRCm39) |
H162L |
probably damaging |
Het |
| P2rx7 |
A |
G |
5: 122,819,329 (GRCm39) |
T584A |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,571,692 (GRCm39) |
Q359R |
probably damaging |
Het |
| Phtf2 |
T |
C |
5: 20,970,802 (GRCm39) |
E147G |
probably damaging |
Het |
| Ptges2 |
G |
A |
2: 32,286,488 (GRCm39) |
A68T |
probably benign |
Het |
| Rab33b |
A |
T |
3: 51,401,069 (GRCm39) |
N181I |
possibly damaging |
Het |
| Rnf213 |
A |
T |
11: 119,359,718 (GRCm39) |
R4370S |
probably benign |
Het |
| Rpf1 |
G |
A |
3: 146,213,390 (GRCm39) |
R254W |
probably damaging |
Het |
| Serpinb7 |
A |
T |
1: 107,363,081 (GRCm39) |
R82* |
probably null |
Het |
| Setbp1 |
A |
G |
18: 78,900,650 (GRCm39) |
S1006P |
probably damaging |
Het |
| Ssr2 |
T |
C |
3: 88,487,323 (GRCm39) |
I46T |
probably damaging |
Het |
| Ssx2ip |
G |
A |
3: 146,124,138 (GRCm39) |
G51D |
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,757,514 (GRCm39) |
L878H |
probably damaging |
Het |
| Th |
G |
A |
7: 142,447,812 (GRCm39) |
Q329* |
probably null |
Het |
| Tln2 |
C |
T |
9: 67,237,829 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
G |
15: 27,805,862 (GRCm39) |
L542P |
probably damaging |
Het |
| Trp53bp2 |
A |
G |
1: 182,256,525 (GRCm39) |
T32A |
probably damaging |
Het |
| Vmn1r40 |
A |
T |
6: 89,691,548 (GRCm39) |
T122S |
probably benign |
Het |
| Vmn2r121 |
C |
T |
X: 123,040,849 (GRCm39) |
C494Y |
probably benign |
Het |
| Vmn2r51 |
A |
T |
7: 9,833,968 (GRCm39) |
Y357N |
probably damaging |
Het |
| Vmn2r55 |
G |
T |
7: 12,404,634 (GRCm39) |
S256R |
probably benign |
Het |
| Vps8 |
A |
G |
16: 21,261,123 (GRCm39) |
T88A |
probably benign |
Het |
| Zfp977 |
A |
C |
7: 42,229,870 (GRCm39) |
N218K |
probably benign |
Het |
|
| Other mutations in Spata31d1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00915:Spata31d1a
|
APN |
13 |
59,849,999 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01397:Spata31d1a
|
APN |
13 |
59,849,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01448:Spata31d1a
|
APN |
13 |
59,849,373 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02715:Spata31d1a
|
APN |
13 |
59,851,549 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02983:Spata31d1a
|
APN |
13 |
59,851,508 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03224:Spata31d1a
|
APN |
13 |
59,848,840 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
PIT1430001:Spata31d1a
|
UTSW |
13 |
59,849,010 (GRCm39) |
missense |
probably benign |
|
|
R0302:Spata31d1a
|
UTSW |
13 |
59,850,964 (GRCm39) |
missense |
probably benign |
|
|
R0387:Spata31d1a
|
UTSW |
13 |
59,851,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0464:Spata31d1a
|
UTSW |
13 |
59,849,573 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0606:Spata31d1a
|
UTSW |
13 |
59,850,245 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0617:Spata31d1a
|
UTSW |
13 |
59,850,073 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0691:Spata31d1a
|
UTSW |
13 |
59,848,199 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0746:Spata31d1a
|
UTSW |
13 |
59,850,077 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1019:Spata31d1a
|
UTSW |
13 |
59,850,182 (GRCm39) |
missense |
probably benign |
|
|
R1397:Spata31d1a
|
UTSW |
13 |
59,852,853 (GRCm39) |
splice site |
probably benign |
|
|
R1543:Spata31d1a
|
UTSW |
13 |
59,850,056 (GRCm39) |
missense |
probably benign |
|
|
R1619:Spata31d1a
|
UTSW |
13 |
59,850,247 (GRCm39) |
nonsense |
probably null |
|
|
R1799:Spata31d1a
|
UTSW |
13 |
59,851,216 (GRCm39) |
missense |
probably benign |
|
|
R1820:Spata31d1a
|
UTSW |
13 |
59,849,069 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1885:Spata31d1a
|
UTSW |
13 |
59,849,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1909:Spata31d1a
|
UTSW |
13 |
59,850,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2012:Spata31d1a
|
UTSW |
13 |
59,850,370 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2099:Spata31d1a
|
UTSW |
13 |
59,853,885 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2132:Spata31d1a
|
UTSW |
13 |
59,848,857 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2224:Spata31d1a
|
UTSW |
13 |
59,851,529 (GRCm39) |
missense |
probably benign |
|
|
R2225:Spata31d1a
|
UTSW |
13 |
59,851,529 (GRCm39) |
missense |
probably benign |
|
|
R2226:Spata31d1a
|
UTSW |
13 |
59,851,529 (GRCm39) |
missense |
probably benign |
|
|
R2358:Spata31d1a
|
UTSW |
13 |
59,851,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2495:Spata31d1a
|
UTSW |
13 |
59,849,807 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3081:Spata31d1a
|
UTSW |
13 |
59,850,907 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3971:Spata31d1a
|
UTSW |
13 |
59,849,971 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4156:Spata31d1a
|
UTSW |
13 |
59,852,861 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4760:Spata31d1a
|
UTSW |
13 |
59,849,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4767:Spata31d1a
|
UTSW |
13 |
59,848,969 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4877:Spata31d1a
|
UTSW |
13 |
59,850,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4894:Spata31d1a
|
UTSW |
13 |
59,849,542 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4961:Spata31d1a
|
UTSW |
13 |
59,849,716 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4990:Spata31d1a
|
UTSW |
13 |
59,850,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4991:Spata31d1a
|
UTSW |
13 |
59,850,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4992:Spata31d1a
|
UTSW |
13 |
59,850,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5088:Spata31d1a
|
UTSW |
13 |
59,848,966 (GRCm39) |
splice site |
probably null |
|
|
R5094:Spata31d1a
|
UTSW |
13 |
59,852,858 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5330:Spata31d1a
|
UTSW |
13 |
59,848,217 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5587:Spata31d1a
|
UTSW |
13 |
59,850,432 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5832:Spata31d1a
|
UTSW |
13 |
59,849,380 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6073:Spata31d1a
|
UTSW |
13 |
59,850,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6208:Spata31d1a
|
UTSW |
13 |
59,848,378 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6224:Spata31d1a
|
UTSW |
13 |
59,854,134 (GRCm39) |
start gained |
probably benign |
|
|
R6250:Spata31d1a
|
UTSW |
13 |
59,849,615 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6359:Spata31d1a
|
UTSW |
13 |
59,850,920 (GRCm39) |
missense |
probably benign |
|
|
R6806:Spata31d1a
|
UTSW |
13 |
59,851,032 (GRCm39) |
missense |
probably benign |
|
|
R6848:Spata31d1a
|
UTSW |
13 |
59,849,777 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6851:Spata31d1a
|
UTSW |
13 |
59,851,725 (GRCm39) |
missense |
unknown |
|
|
R6985:Spata31d1a
|
UTSW |
13 |
59,850,907 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7007:Spata31d1a
|
UTSW |
13 |
59,851,448 (GRCm39) |
missense |
probably benign |
|
|
R7037:Spata31d1a
|
UTSW |
13 |
59,848,138 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7124:Spata31d1a
|
UTSW |
13 |
59,850,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7271:Spata31d1a
|
UTSW |
13 |
59,849,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7346:Spata31d1a
|
UTSW |
13 |
59,851,015 (GRCm39) |
missense |
probably benign |
|
|
R7556:Spata31d1a
|
UTSW |
13 |
59,849,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7581:Spata31d1a
|
UTSW |
13 |
59,851,953 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7891:Spata31d1a
|
UTSW |
13 |
59,848,139 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7995:Spata31d1a
|
UTSW |
13 |
59,848,924 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8379:Spata31d1a
|
UTSW |
13 |
59,850,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8497:Spata31d1a
|
UTSW |
13 |
59,848,988 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8837:Spata31d1a
|
UTSW |
13 |
59,850,596 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9108:Spata31d1a
|
UTSW |
13 |
59,850,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Spata31d1a
|
UTSW |
13 |
59,850,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTGGAGAAATGACATTCCCTG -3'
(R):5'- CCAGCCTCTGAGAACAAGAAGG -3'
Sequencing Primer
(F):5'- CTGTGGGGACTGACATGC -3'
(R):5'- TGTAGATAGAGACCTTAGCATAGCCC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation