Incidental Mutation 'R6250:Spata31d1a'
ID |
505933 |
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 |
044367-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R6250 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
59847897-59854401 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 59849615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 838
(S838P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152919
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066510]
[ENSMUST00000224469]
[ENSMUST00000224982]
|
AlphaFold |
E9QA35 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066510
AA Change: S838P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128533 Gene: ENSMUSG00000050876 AA Change: S838P
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 |
possibly damaging
Transcript: ENSMUST00000224982
AA Change: S838P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225362
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (60/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12 |
T |
C |
2: 150,681,667 (GRCm39) |
Y241C |
probably damaging |
Het |
Ak9 |
T |
C |
10: 41,265,030 (GRCm39) |
V929A |
possibly damaging |
Het |
Ap3s1 |
T |
C |
18: 46,887,514 (GRCm39) |
F49S |
probably damaging |
Het |
Atp9b |
T |
C |
18: 80,799,736 (GRCm39) |
H801R |
probably benign |
Het |
B430218F22Rik |
A |
G |
13: 118,523,944 (GRCm39) |
|
probably benign |
Het |
Ccnd3 |
T |
A |
17: 47,908,487 (GRCm39) |
L186* |
probably null |
Het |
Cnbd1 |
T |
A |
4: 19,098,255 (GRCm39) |
Q55L |
probably benign |
Het |
Commd10 |
A |
G |
18: 47,096,755 (GRCm39) |
E54G |
probably damaging |
Het |
Cplx3 |
A |
G |
9: 57,522,907 (GRCm39) |
V151A |
probably benign |
Het |
D6Ertd527e |
G |
A |
6: 87,088,194 (GRCm39) |
G119D |
unknown |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Disp2 |
A |
T |
2: 118,621,247 (GRCm39) |
I660F |
probably damaging |
Het |
Eef1a2 |
A |
G |
2: 180,792,853 (GRCm39) |
F211L |
possibly damaging |
Het |
Epb41 |
A |
T |
4: 131,717,184 (GRCm39) |
F323L |
probably damaging |
Het |
Eps8l3 |
A |
T |
3: 107,797,781 (GRCm39) |
I403F |
probably benign |
Het |
Ercc5 |
T |
A |
1: 44,203,209 (GRCm39) |
V282D |
probably damaging |
Het |
Faim |
A |
T |
9: 98,874,176 (GRCm39) |
M1L |
probably benign |
Het |
Fbxo24 |
A |
G |
5: 137,619,543 (GRCm39) |
F111L |
probably damaging |
Het |
Fcgbpl1 |
G |
A |
7: 27,850,139 (GRCm39) |
G1195D |
probably damaging |
Het |
Glrx |
A |
T |
13: 75,988,229 (GRCm39) |
I48F |
probably damaging |
Het |
Gucy2g |
A |
T |
19: 55,205,856 (GRCm39) |
L668Q |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,477,561 (GRCm39) |
D2828G |
possibly damaging |
Het |
Hivep2 |
T |
C |
10: 14,007,503 (GRCm39) |
V1367A |
probably benign |
Het |
Hrob |
A |
G |
11: 102,145,888 (GRCm39) |
T55A |
probably benign |
Het |
Ipo13 |
A |
G |
4: 117,769,351 (GRCm39) |
V147A |
possibly damaging |
Het |
Jchain |
T |
C |
5: 88,674,034 (GRCm39) |
T37A |
probably benign |
Het |
Kif1b |
A |
G |
4: 149,298,100 (GRCm39) |
V1034A |
probably benign |
Het |
Krt25 |
T |
A |
11: 99,211,989 (GRCm39) |
N216I |
probably damaging |
Het |
Mfsd4b1 |
T |
C |
10: 39,879,106 (GRCm39) |
S264G |
possibly damaging |
Het |
Mxra8 |
G |
T |
4: 155,925,546 (GRCm39) |
R82L |
possibly damaging |
Het |
Nlrp1b |
A |
T |
11: 71,072,625 (GRCm39) |
I406N |
probably benign |
Het |
Or13c7 |
T |
C |
4: 43,854,363 (GRCm39) |
L18P |
possibly damaging |
Het |
Or2y11 |
A |
T |
11: 49,442,711 (GRCm39) |
I46F |
probably damaging |
Het |
Or5h23 |
G |
A |
16: 58,906,195 (GRCm39) |
S217F |
probably damaging |
Het |
Pak5 |
T |
C |
2: 136,016,189 (GRCm39) |
|
probably benign |
Het |
Pcsk4 |
T |
C |
10: 80,161,426 (GRCm39) |
R222G |
probably benign |
Het |
Pik3cb |
A |
C |
9: 98,976,651 (GRCm39) |
F149V |
probably benign |
Het |
Plscr4 |
G |
A |
9: 92,366,881 (GRCm39) |
R165Q |
possibly damaging |
Het |
Ppp2r2a |
A |
T |
14: 67,276,403 (GRCm39) |
V34E |
probably damaging |
Het |
Prpf8 |
T |
G |
11: 75,384,334 (GRCm39) |
S659R |
possibly damaging |
Het |
Ptprd |
A |
G |
4: 76,047,232 (GRCm39) |
S342P |
probably damaging |
Het |
Pum2 |
T |
C |
12: 8,794,755 (GRCm39) |
|
probably null |
Het |
Ranbp3 |
T |
G |
17: 56,984,208 (GRCm39) |
|
probably null |
Het |
Rassf7 |
A |
G |
7: 140,797,156 (GRCm39) |
E123G |
probably damaging |
Het |
Rcor1 |
G |
T |
12: 111,078,311 (GRCm39) |
A469S |
probably benign |
Het |
Rcor3 |
G |
T |
1: 191,785,196 (GRCm39) |
P524Q |
probably damaging |
Het |
Rnf44 |
A |
T |
13: 54,829,920 (GRCm39) |
|
probably null |
Het |
Rtf1 |
T |
C |
2: 119,505,658 (GRCm39) |
V37A |
unknown |
Het |
Sdc4 |
A |
T |
2: 164,273,138 (GRCm39) |
D57E |
probably damaging |
Het |
Setbp1 |
T |
C |
18: 78,901,217 (GRCm39) |
T817A |
probably benign |
Het |
Setd1a |
A |
G |
7: 127,390,471 (GRCm39) |
E506G |
unknown |
Het |
Slc30a8 |
G |
A |
15: 52,198,545 (GRCm39) |
R330Q |
probably benign |
Het |
Snx22 |
C |
A |
9: 65,976,923 (GRCm39) |
E14* |
probably null |
Het |
Sprr4 |
G |
T |
3: 92,407,770 (GRCm39) |
Q11K |
unknown |
Het |
Trpm3 |
A |
G |
19: 22,887,418 (GRCm39) |
N839S |
probably benign |
Het |
Vps9d1 |
T |
C |
8: 123,974,947 (GRCm39) |
|
probably null |
Het |
Vwa3b |
T |
C |
1: 37,090,966 (GRCm39) |
|
probably null |
Het |
Ythdf1 |
T |
C |
2: 180,552,893 (GRCm39) |
T414A |
probably damaging |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
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 |
R3151:Spata31d1a
|
UTSW |
13 |
59,849,180 (GRCm39) |
missense |
probably benign |
0.06 |
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 |
|
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'- TCTTGTTCTCAGAGGCTGGC -3'
(R):5'- TTCTCGGAACATGACACAGCC -3'
Sequencing Primer
(F):5'- CACCAGTGAGGCAGCAG -3'
(R):5'- AGCCTCCACCTGAGACCTG -3'
|
Posted On |
2018-02-28 |