Incidental Mutation 'R4592:Spata31d1c'
| ID |
342920 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1c
|
| Ensembl Gene |
ENSMUSG00000074849 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1C |
| Synonyms |
4932441B19Rik, Fam75d1c |
| MMRRC Submission |
041808-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4592 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
65033058-65038004 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65036060 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 472
(A472V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099427]
|
| AlphaFold |
E9QAF1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099427
AA Change: A472V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: A472V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
22 |
44 |
N/A |
INTRINSIC |
|
Pfam:DUF4599
|
63 |
148 |
2.4e-31 |
PFAM |
|
low complexity region
|
178 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
380 |
742 |
1.4e-120 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (64/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001P01Rik |
A |
G |
11: 97,771,615 (GRCm38) |
S144P |
probably damaging |
Het |
| 4933430I17Rik |
T |
A |
4: 62,538,927 (GRCm38) |
V161E |
possibly damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,546,709 (GRCm38) |
V521A |
possibly damaging |
Het |
| Atrn |
T |
C |
2: 130,999,130 (GRCm38) |
|
probably benign |
Het |
| Casp12 |
T |
C |
9: 5,352,923 (GRCm38) |
|
probably benign |
Het |
| Ccdc189 |
C |
T |
7: 127,585,491 (GRCm38) |
R172H |
probably benign |
Het |
| Cenpf |
G |
A |
1: 189,679,033 (GRCm38) |
T318M |
probably damaging |
Het |
| Clcn2 |
T |
C |
16: 20,709,142 (GRCm38) |
K525E |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,971,182 (GRCm38) |
T301A |
probably benign |
Het |
| Crat |
T |
C |
2: 30,415,366 (GRCm38) |
|
probably benign |
Het |
| Cul5 |
A |
G |
9: 53,633,727 (GRCm38) |
|
probably benign |
Het |
| Cxcl14 |
A |
T |
13: 56,295,895 (GRCm38) |
I34N |
probably damaging |
Het |
| Cyp2b19 |
A |
G |
7: 26,771,394 (GRCm38) |
I487V |
probably benign |
Het |
| Cyp4a10 |
T |
A |
4: 115,529,493 (GRCm38) |
F446I |
probably damaging |
Het |
| D430041D05Rik |
T |
A |
2: 104,233,479 (GRCm38) |
M659L |
possibly damaging |
Het |
| Dclk3 |
T |
C |
9: 111,467,895 (GRCm38) |
F169S |
probably damaging |
Het |
| Ddx52 |
T |
C |
11: 83,957,480 (GRCm38) |
I532T |
probably damaging |
Het |
| Dnm1 |
T |
C |
2: 32,336,011 (GRCm38) |
D352G |
probably damaging |
Het |
| Eif4g2 |
T |
C |
7: 111,078,302 (GRCm38) |
E174G |
probably damaging |
Het |
| Enpp6 |
G |
T |
8: 47,093,032 (GRCm38) |
V386L |
probably damaging |
Het |
| Eps15l1 |
T |
C |
8: 72,341,394 (GRCm38) |
D904G |
probably damaging |
Het |
| Esrrb |
A |
G |
12: 86,518,830 (GRCm38) |
Y356C |
probably damaging |
Het |
| Flt3 |
A |
T |
5: 147,354,699 (GRCm38) |
S619T |
possibly damaging |
Het |
| Fndc7 |
A |
T |
3: 108,858,902 (GRCm38) |
C716S |
probably damaging |
Het |
| Gm10125 |
T |
C |
18: 5,525,375 (GRCm38) |
|
noncoding transcript |
Het |
| Gm26996 |
T |
A |
6: 130,579,485 (GRCm38) |
|
noncoding transcript |
Het |
| Grik2 |
A |
T |
10: 49,422,615 (GRCm38) |
F50I |
possibly damaging |
Het |
| Guf1 |
T |
C |
5: 69,566,443 (GRCm38) |
V367A |
possibly damaging |
Het |
| Hspg2 |
C |
T |
4: 137,518,940 (GRCm38) |
R1010C |
probably damaging |
Het |
| Ifnar2 |
T |
C |
16: 91,391,796 (GRCm38) |
V55A |
probably benign |
Het |
| Impg1 |
T |
A |
9: 80,440,854 (GRCm38) |
I33F |
probably benign |
Het |
| Ltbp4 |
A |
C |
7: 27,325,183 (GRCm38) |
V674G |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,918,290 (GRCm38) |
L529H |
probably damaging |
Het |
| Negr1 |
T |
C |
3: 157,208,386 (GRCm38) |
|
probably benign |
Het |
| Neurog3 |
A |
G |
10: 62,133,820 (GRCm38) |
T25A |
probably damaging |
Het |
| Olfr1241 |
T |
A |
2: 89,482,756 (GRCm38) |
K126N |
probably damaging |
Het |
| Olfr1420 |
T |
C |
19: 11,896,762 (GRCm38) |
V247A |
probably benign |
Het |
| Olfr181 |
T |
C |
16: 58,926,092 (GRCm38) |
T160A |
probably benign |
Het |
| Olfr555 |
A |
C |
7: 102,659,478 (GRCm38) |
Y219S |
probably damaging |
Het |
| Pax8 |
T |
A |
2: 24,443,189 (GRCm38) |
|
probably benign |
Het |
| Pcsk6 |
A |
C |
7: 65,931,732 (GRCm38) |
I254L |
possibly damaging |
Het |
| Pde3a |
A |
G |
6: 141,459,216 (GRCm38) |
K389R |
probably benign |
Het |
| Rab3gap1 |
C |
A |
1: 127,925,259 (GRCm38) |
|
probably benign |
Het |
| Rbck1 |
G |
A |
2: 152,318,733 (GRCm38) |
Q428* |
probably null |
Het |
| Rptor |
A |
G |
11: 119,798,840 (GRCm38) |
D321G |
probably null |
Het |
| Sall2 |
C |
A |
14: 52,313,803 (GRCm38) |
R643L |
probably damaging |
Het |
| Sdccag3 |
C |
A |
2: 26,388,897 (GRCm38) |
|
probably benign |
Het |
| Skp1a |
T |
C |
11: 52,243,619 (GRCm38) |
I59T |
possibly damaging |
Het |
| Slc23a3 |
T |
G |
1: 75,128,556 (GRCm38) |
N456T |
probably damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,778,850 (GRCm38) |
G920S |
probably damaging |
Het |
| Smarcd3 |
T |
C |
5: 24,592,804 (GRCm38) |
I467V |
probably benign |
Het |
| Srsf6 |
T |
C |
2: 162,931,723 (GRCm38) |
I18T |
probably damaging |
Het |
| Stom |
C |
T |
2: 35,323,746 (GRCm38) |
G80D |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,084,028 (GRCm38) |
Y1915N |
possibly damaging |
Het |
| Tmf1 |
C |
T |
6: 97,173,400 (GRCm38) |
V449I |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,967,095 (GRCm38) |
A483V |
probably benign |
Het |
| Vdac1 |
G |
A |
11: 52,374,972 (GRCm38) |
|
probably null |
Het |
| Vmn2r75 |
T |
G |
7: 86,166,286 (GRCm38) |
E123D |
probably benign |
Het |
| Vmn2r79 |
T |
A |
7: 87,004,111 (GRCm38) |
V528D |
possibly damaging |
Het |
| Zdbf2 |
T |
G |
1: 63,306,591 (GRCm38) |
N1376K |
possibly damaging |
Het |
|
| Other mutations in Spata31d1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01639:Spata31d1c
|
APN |
13 |
65,036,089 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02830:Spata31d1c
|
APN |
13 |
65,035,366 (GRCm38) |
missense |
probably benign |
0.25 |
|
IGL02947:Spata31d1c
|
APN |
13 |
65,034,945 (GRCm38) |
nonsense |
probably null |
|
|
IGL03133:Spata31d1c
|
APN |
13 |
65,034,985 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL03176:Spata31d1c
|
APN |
13 |
65,037,011 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03183:Spata31d1c
|
APN |
13 |
65,035,195 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL03206:Spata31d1c
|
APN |
13 |
65,035,593 (GRCm38) |
missense |
probably benign |
0.41 |
|
PIT4382001:Spata31d1c
|
UTSW |
13 |
65,036,171 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0054:Spata31d1c
|
UTSW |
13 |
65,033,062 (GRCm38) |
start gained |
probably benign |
|
|
R0959:Spata31d1c
|
UTSW |
13 |
65,036,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1232:Spata31d1c
|
UTSW |
13 |
65,036,614 (GRCm38) |
missense |
probably benign |
|
|
R1347:Spata31d1c
|
UTSW |
13 |
65,035,388 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1381:Spata31d1c
|
UTSW |
13 |
65,036,554 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1573:Spata31d1c
|
UTSW |
13 |
65,035,069 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1582:Spata31d1c
|
UTSW |
13 |
65,033,224 (GRCm38) |
missense |
probably benign |
|
|
R1639:Spata31d1c
|
UTSW |
13 |
65,036,039 (GRCm38) |
missense |
probably benign |
|
|
R1716:Spata31d1c
|
UTSW |
13 |
65,033,216 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R1781:Spata31d1c
|
UTSW |
13 |
65,036,171 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1907:Spata31d1c
|
UTSW |
13 |
65,035,876 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2012:Spata31d1c
|
UTSW |
13 |
65,035,227 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R2152:Spata31d1c
|
UTSW |
13 |
65,033,965 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2211:Spata31d1c
|
UTSW |
13 |
65,035,939 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2571:Spata31d1c
|
UTSW |
13 |
65,036,384 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2908:Spata31d1c
|
UTSW |
13 |
65,033,191 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R3978:Spata31d1c
|
UTSW |
13 |
65,035,160 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R3979:Spata31d1c
|
UTSW |
13 |
65,035,160 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R3980:Spata31d1c
|
UTSW |
13 |
65,035,160 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R3981:Spata31d1c
|
UTSW |
13 |
65,035,111 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R4014:Spata31d1c
|
UTSW |
13 |
65,035,399 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4255:Spata31d1c
|
UTSW |
13 |
65,035,717 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4255:Spata31d1c
|
UTSW |
13 |
65,035,688 (GRCm38) |
nonsense |
probably null |
|
|
R4597:Spata31d1c
|
UTSW |
13 |
65,035,613 (GRCm38) |
nonsense |
probably null |
|
|
R4624:Spata31d1c
|
UTSW |
13 |
65,036,597 (GRCm38) |
missense |
probably benign |
|
|
R4641:Spata31d1c
|
UTSW |
13 |
65,035,048 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4863:Spata31d1c
|
UTSW |
13 |
65,035,790 (GRCm38) |
nonsense |
probably null |
|
|
R5084:Spata31d1c
|
UTSW |
13 |
65,035,130 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5152:Spata31d1c
|
UTSW |
13 |
65,035,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5230:Spata31d1c
|
UTSW |
13 |
65,035,434 (GRCm38) |
missense |
probably benign |
0.41 |
|
R5267:Spata31d1c
|
UTSW |
13 |
65,035,904 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5615:Spata31d1c
|
UTSW |
13 |
65,035,264 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R5755:Spata31d1c
|
UTSW |
13 |
65,036,527 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5935:Spata31d1c
|
UTSW |
13 |
65,037,080 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R6017:Spata31d1c
|
UTSW |
13 |
65,035,079 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6131:Spata31d1c
|
UTSW |
13 |
65,035,671 (GRCm38) |
missense |
probably benign |
0.10 |
|
R6359:Spata31d1c
|
UTSW |
13 |
65,035,592 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R6723:Spata31d1c
|
UTSW |
13 |
65,035,944 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7028:Spata31d1c
|
UTSW |
13 |
65,036,063 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7336:Spata31d1c
|
UTSW |
13 |
65,036,128 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7426:Spata31d1c
|
UTSW |
13 |
65,035,361 (GRCm38) |
missense |
probably benign |
|
|
R7552:Spata31d1c
|
UTSW |
13 |
65,036,123 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7605:Spata31d1c
|
UTSW |
13 |
65,035,840 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7666:Spata31d1c
|
UTSW |
13 |
65,036,000 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8403:Spata31d1c
|
UTSW |
13 |
65,036,230 (GRCm38) |
missense |
probably benign |
0.42 |
|
R8445:Spata31d1c
|
UTSW |
13 |
65,033,177 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8513:Spata31d1c
|
UTSW |
13 |
65,033,177 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8515:Spata31d1c
|
UTSW |
13 |
65,033,177 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8523:Spata31d1c
|
UTSW |
13 |
65,033,177 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8799:Spata31d1c
|
UTSW |
13 |
65,036,326 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8817:Spata31d1c
|
UTSW |
13 |
65,034,562 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8854:Spata31d1c
|
UTSW |
13 |
65,035,990 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R8917:Spata31d1c
|
UTSW |
13 |
65,035,615 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9084:Spata31d1c
|
UTSW |
13 |
65,035,145 (GRCm38) |
missense |
probably benign |
|
|
R9197:Spata31d1c
|
UTSW |
13 |
65,035,876 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9201:Spata31d1c
|
UTSW |
13 |
65,036,959 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R9261:Spata31d1c
|
UTSW |
13 |
65,036,866 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9516:Spata31d1c
|
UTSW |
13 |
65,036,226 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0022:Spata31d1c
|
UTSW |
13 |
65,036,927 (GRCm38) |
missense |
probably benign |
0.35 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTTGACTGACAGTTCCC -3'
(R):5'- CTGACTGACCAATGAGGGATTAGG -3'
Sequencing Primer
(F):5'- CTGATCTCTGGGTGCTTCAACAG -3'
(R):5'- TTATGACCACAGTGGGTAAACC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation