Incidental Mutation 'R7605:Spata31d1c'
| ID |
588261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1c
|
| Ensembl Gene |
ENSMUSG00000074849 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1C |
| Synonyms |
4932441B19Rik, Fam75d1c |
| MMRRC Submission |
045675-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7605 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
65180872-65185816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65183654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 399
(S399T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099427]
|
| AlphaFold |
E9QAF1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099427
AA Change: S399T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: S399T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
G |
12: 118,881,899 (GRCm39) |
L610P |
probably damaging |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Asphd2 |
A |
G |
5: 112,539,807 (GRCm39) |
W9R |
probably damaging |
Het |
| Blvrb |
T |
A |
7: 27,165,218 (GRCm39) |
H179Q |
probably damaging |
Het |
| Capn13 |
A |
T |
17: 73,652,132 (GRCm39) |
|
probably null |
Het |
| Casp6 |
A |
T |
3: 129,705,812 (GRCm39) |
M160L |
probably benign |
Het |
| Chordc1 |
A |
G |
9: 18,215,668 (GRCm39) |
E140G |
probably benign |
Het |
| Col24a1 |
A |
T |
3: 145,244,442 (GRCm39) |
Y1572F |
possibly damaging |
Het |
| Cul9 |
A |
G |
17: 46,852,658 (GRCm39) |
S235P |
probably damaging |
Het |
| Cyp2u1 |
A |
T |
3: 131,091,602 (GRCm39) |
M306K |
probably damaging |
Het |
| Dhx33 |
A |
G |
11: 70,890,299 (GRCm39) |
L240P |
probably damaging |
Het |
| Dna2 |
T |
A |
10: 62,796,054 (GRCm39) |
D494E |
probably benign |
Het |
| Dnah7c |
C |
T |
1: 46,671,470 (GRCm39) |
R1620C |
probably damaging |
Het |
| Dpp8 |
G |
A |
9: 64,962,240 (GRCm39) |
V427M |
probably benign |
Het |
| Dpt |
G |
A |
1: 164,624,400 (GRCm39) |
G34S |
unknown |
Het |
| Emb |
T |
A |
13: 117,401,046 (GRCm39) |
N198K |
probably damaging |
Het |
| Entpd5 |
T |
G |
12: 84,443,482 (GRCm39) |
H62P |
probably damaging |
Het |
| Ep300 |
A |
C |
15: 81,505,353 (GRCm39) |
M658L |
unknown |
Het |
| Epb41l4a |
T |
A |
18: 33,930,504 (GRCm39) |
D651V |
probably damaging |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Ephb2 |
A |
T |
4: 136,498,419 (GRCm39) |
V220E |
probably damaging |
Het |
| Fam187a |
T |
A |
11: 102,776,874 (GRCm39) |
L226H |
possibly damaging |
Het |
| Fbxo42 |
G |
A |
4: 140,927,129 (GRCm39) |
A470T |
probably benign |
Het |
| Fcgrt |
C |
T |
7: 44,744,675 (GRCm39) |
W264* |
probably null |
Het |
| Flt3 |
A |
C |
5: 147,286,386 (GRCm39) |
H733Q |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,082,560 (GRCm39) |
D228G |
probably damaging |
Het |
| Gars1 |
T |
C |
6: 55,054,735 (GRCm39) |
S681P |
probably damaging |
Het |
| Gata2 |
T |
C |
6: 88,177,390 (GRCm39) |
V140A |
possibly damaging |
Het |
| Gm8232 |
A |
T |
14: 44,672,384 (GRCm39) |
N100I |
|
Het |
| Grik4 |
A |
G |
9: 42,599,367 (GRCm39) |
C37R |
probably damaging |
Het |
| Grm8 |
T |
C |
6: 27,618,678 (GRCm39) |
E388G |
probably damaging |
Het |
| Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
| Igsf9b |
C |
T |
9: 27,234,608 (GRCm39) |
T491I |
probably damaging |
Het |
| Impa1 |
C |
T |
3: 10,389,147 (GRCm39) |
V105I |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,567,771 (GRCm39) |
T134A |
probably damaging |
Het |
| Itgb4 |
T |
A |
11: 115,897,302 (GRCm39) |
V1521E |
probably benign |
Het |
| Iws1 |
T |
A |
18: 32,222,540 (GRCm39) |
D623E |
probably benign |
Het |
| Lhfpl5 |
T |
C |
17: 28,795,305 (GRCm39) |
S111P |
possibly damaging |
Het |
| Lyzl1 |
T |
C |
18: 4,169,244 (GRCm39) |
C83R |
probably damaging |
Het |
| Madd |
G |
A |
2: 91,000,055 (GRCm39) |
T617M |
possibly damaging |
Het |
| Magi2 |
A |
G |
5: 20,433,383 (GRCm39) |
T163A |
probably damaging |
Het |
| Mdn1 |
C |
A |
4: 32,694,599 (GRCm39) |
H1107Q |
probably damaging |
Het |
| Mfsd14b |
A |
T |
13: 65,214,591 (GRCm39) |
Y454N |
probably benign |
Het |
| Mrgprb3 |
T |
A |
7: 48,292,862 (GRCm39) |
I230F |
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,974,505 (GRCm39) |
L1162F |
probably damaging |
Het |
| Or11i1 |
G |
T |
3: 106,729,337 (GRCm39) |
H179Q |
probably damaging |
Het |
| Or2aj5 |
T |
C |
16: 19,425,022 (GRCm39) |
Y131C |
probably damaging |
Het |
| Or51f23b |
C |
T |
7: 102,402,952 (GRCm39) |
M61I |
probably benign |
Het |
| Or51m1 |
T |
C |
7: 103,578,075 (GRCm39) |
L15P |
probably damaging |
Het |
| Or5ar1 |
A |
G |
2: 85,671,383 (GRCm39) |
F251L |
probably benign |
Het |
| Or9e1 |
A |
G |
11: 58,732,326 (GRCm39) |
I129V |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,729,050 (GRCm39) |
L2636P |
unknown |
Het |
| Pfkm |
G |
A |
15: 98,019,191 (GRCm39) |
A181T |
probably damaging |
Het |
| Pik3r1 |
C |
T |
13: 101,839,346 (GRCm39) |
A169T |
probably benign |
Het |
| R3hdml |
T |
A |
2: 163,337,688 (GRCm39) |
M114K |
probably damaging |
Het |
| Robo1 |
C |
A |
16: 72,821,189 (GRCm39) |
R1310S |
probably benign |
Het |
| Scnm1 |
A |
T |
3: 95,040,186 (GRCm39) |
N115K |
probably benign |
Het |
| Sfn |
A |
G |
4: 133,328,548 (GRCm39) |
V178A |
probably damaging |
Het |
| Shank2 |
C |
T |
7: 143,645,516 (GRCm39) |
T366I |
possibly damaging |
Het |
| Siah1a |
T |
C |
8: 87,451,953 (GRCm39) |
D177G |
probably damaging |
Het |
| Slc37a2 |
A |
C |
9: 37,148,624 (GRCm39) |
I286S |
possibly damaging |
Het |
| Smarce1 |
T |
C |
11: 99,119,118 (GRCm39) |
T12A |
probably benign |
Het |
| Specc1 |
A |
G |
11: 62,102,506 (GRCm39) |
S942G |
possibly damaging |
Het |
| Syt13 |
T |
C |
2: 92,773,478 (GRCm39) |
F164S |
probably benign |
Het |
| Topbp1 |
A |
T |
9: 103,209,905 (GRCm39) |
T851S |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,800,015 (GRCm39) |
S398T |
unknown |
Het |
| Vmn1r12 |
T |
C |
6: 57,136,521 (GRCm39) |
V206A |
probably damaging |
Het |
| Vmn1r224 |
G |
A |
17: 20,640,221 (GRCm39) |
W266* |
probably null |
Het |
| Vmn2r68 |
T |
C |
7: 84,883,116 (GRCm39) |
D212G |
probably benign |
Het |
| Vps13b |
G |
T |
15: 35,770,792 (GRCm39) |
K2078N |
probably damaging |
Het |
| Zfp251 |
A |
C |
15: 76,738,557 (GRCm39) |
F179V |
possibly damaging |
Het |
|
| Other mutations in Spata31d1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01639:Spata31d1c
|
APN |
13 |
65,183,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02830:Spata31d1c
|
APN |
13 |
65,183,180 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02947:Spata31d1c
|
APN |
13 |
65,182,759 (GRCm39) |
nonsense |
probably null |
|
|
IGL03133:Spata31d1c
|
APN |
13 |
65,182,799 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03176:Spata31d1c
|
APN |
13 |
65,184,825 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03183:Spata31d1c
|
APN |
13 |
65,183,009 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03206:Spata31d1c
|
APN |
13 |
65,183,407 (GRCm39) |
missense |
probably benign |
0.41 |
|
PIT4382001:Spata31d1c
|
UTSW |
13 |
65,183,985 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0054:Spata31d1c
|
UTSW |
13 |
65,180,876 (GRCm39) |
start gained |
probably benign |
|
|
R0959:Spata31d1c
|
UTSW |
13 |
65,184,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1232:Spata31d1c
|
UTSW |
13 |
65,184,428 (GRCm39) |
missense |
probably benign |
|
|
R1347:Spata31d1c
|
UTSW |
13 |
65,183,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1347:Spata31d1c
|
UTSW |
13 |
65,183,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1381:Spata31d1c
|
UTSW |
13 |
65,184,368 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1573:Spata31d1c
|
UTSW |
13 |
65,182,883 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1582:Spata31d1c
|
UTSW |
13 |
65,181,038 (GRCm39) |
missense |
probably benign |
|
|
R1639:Spata31d1c
|
UTSW |
13 |
65,183,853 (GRCm39) |
missense |
probably benign |
|
|
R1716:Spata31d1c
|
UTSW |
13 |
65,181,030 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1781:Spata31d1c
|
UTSW |
13 |
65,183,985 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1907:Spata31d1c
|
UTSW |
13 |
65,183,690 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2012:Spata31d1c
|
UTSW |
13 |
65,183,041 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2152:Spata31d1c
|
UTSW |
13 |
65,181,779 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2211:Spata31d1c
|
UTSW |
13 |
65,183,753 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2571:Spata31d1c
|
UTSW |
13 |
65,184,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2908:Spata31d1c
|
UTSW |
13 |
65,181,005 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3978:Spata31d1c
|
UTSW |
13 |
65,182,974 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3979:Spata31d1c
|
UTSW |
13 |
65,182,974 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3980:Spata31d1c
|
UTSW |
13 |
65,182,974 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3981:Spata31d1c
|
UTSW |
13 |
65,182,925 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4014:Spata31d1c
|
UTSW |
13 |
65,183,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4255:Spata31d1c
|
UTSW |
13 |
65,183,531 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4255:Spata31d1c
|
UTSW |
13 |
65,183,502 (GRCm39) |
nonsense |
probably null |
|
|
R4592:Spata31d1c
|
UTSW |
13 |
65,183,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4597:Spata31d1c
|
UTSW |
13 |
65,183,427 (GRCm39) |
nonsense |
probably null |
|
|
R4624:Spata31d1c
|
UTSW |
13 |
65,184,411 (GRCm39) |
missense |
probably benign |
|
|
R4641:Spata31d1c
|
UTSW |
13 |
65,182,862 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4863:Spata31d1c
|
UTSW |
13 |
65,183,604 (GRCm39) |
nonsense |
probably null |
|
|
R5084:Spata31d1c
|
UTSW |
13 |
65,182,944 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5152:Spata31d1c
|
UTSW |
13 |
65,183,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5230:Spata31d1c
|
UTSW |
13 |
65,183,248 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5267:Spata31d1c
|
UTSW |
13 |
65,183,718 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5615:Spata31d1c
|
UTSW |
13 |
65,183,078 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5755:Spata31d1c
|
UTSW |
13 |
65,184,341 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5935:Spata31d1c
|
UTSW |
13 |
65,184,894 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6017:Spata31d1c
|
UTSW |
13 |
65,182,893 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6131:Spata31d1c
|
UTSW |
13 |
65,183,485 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6359:Spata31d1c
|
UTSW |
13 |
65,183,406 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6723:Spata31d1c
|
UTSW |
13 |
65,183,758 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7028:Spata31d1c
|
UTSW |
13 |
65,183,877 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7336:Spata31d1c
|
UTSW |
13 |
65,183,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7426:Spata31d1c
|
UTSW |
13 |
65,183,175 (GRCm39) |
missense |
probably benign |
|
|
R7552:Spata31d1c
|
UTSW |
13 |
65,183,937 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7666:Spata31d1c
|
UTSW |
13 |
65,183,814 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8403:Spata31d1c
|
UTSW |
13 |
65,184,044 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8445:Spata31d1c
|
UTSW |
13 |
65,180,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8513:Spata31d1c
|
UTSW |
13 |
65,180,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8515:Spata31d1c
|
UTSW |
13 |
65,180,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8523:Spata31d1c
|
UTSW |
13 |
65,180,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8799:Spata31d1c
|
UTSW |
13 |
65,184,140 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8817:Spata31d1c
|
UTSW |
13 |
65,182,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8854:Spata31d1c
|
UTSW |
13 |
65,183,804 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8917:Spata31d1c
|
UTSW |
13 |
65,183,429 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9084:Spata31d1c
|
UTSW |
13 |
65,182,959 (GRCm39) |
missense |
probably benign |
|
|
R9197:Spata31d1c
|
UTSW |
13 |
65,183,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9201:Spata31d1c
|
UTSW |
13 |
65,184,773 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9261:Spata31d1c
|
UTSW |
13 |
65,184,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9516:Spata31d1c
|
UTSW |
13 |
65,184,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Spata31d1c
|
UTSW |
13 |
65,184,741 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAACCTTCACTTTTCCAGCC -3'
(R):5'- AGATTGGGACAGACTTTGGG -3'
Sequencing Primer
(F):5'- CGTGGCACTACTTGAGACAC -3'
(R):5'- GGACAAGTTATGTAGTTGACTTTCAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation