Incidental Mutation 'R8515:Spata31d1c'
| ID |
656106 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1c
|
| Ensembl Gene |
ENSMUSG00000074849 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1C |
| Synonyms |
4932441B19Rik, Fam75d1c |
| MMRRC Submission |
067847-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8515 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
65180872-65185816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 65180991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 30
(S30I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099427]
|
| AlphaFold |
E9QAF1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099427
AA Change: S30I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: S30I
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
A |
G |
6: 86,902,112 (GRCm39) |
M94V |
possibly damaging |
Het |
| Acss3 |
A |
G |
10: 106,784,524 (GRCm39) |
I566T |
possibly damaging |
Het |
| Adcy3 |
T |
C |
12: 4,262,187 (GRCm39) |
V1080A |
probably damaging |
Het |
| Aldh1b1 |
C |
T |
4: 45,803,818 (GRCm39) |
T452I |
probably damaging |
Het |
| Bptf |
A |
T |
11: 106,946,064 (GRCm39) |
S2392T |
possibly damaging |
Het |
| Ccnb2 |
A |
G |
9: 70,320,382 (GRCm39) |
|
probably null |
Het |
| Clec4a4 |
T |
A |
6: 122,980,982 (GRCm39) |
Y72N |
probably benign |
Het |
| Clk4 |
G |
A |
11: 51,166,088 (GRCm39) |
R198Q |
probably damaging |
Het |
| Coro2a |
ACCAGAAGAGCCATCCAG |
ACCAG |
4: 46,544,117 (GRCm39) |
|
probably null |
Het |
| Ctbs |
T |
A |
3: 146,164,568 (GRCm39) |
Y240* |
probably null |
Het |
| Cyp2d22 |
T |
C |
15: 82,258,113 (GRCm39) |
D169G |
probably benign |
Het |
| Dnah11 |
C |
T |
12: 117,939,533 (GRCm39) |
V3196I |
probably damaging |
Het |
| Fam110b |
T |
C |
4: 5,799,380 (GRCm39) |
V266A |
probably benign |
Het |
| Fbxo40 |
A |
G |
16: 36,791,015 (GRCm39) |
S32P |
probably damaging |
Het |
| Gm4787 |
T |
A |
12: 81,424,043 (GRCm39) |
H705L |
probably benign |
Het |
| Grik1 |
A |
T |
16: 87,720,170 (GRCm39) |
Y702* |
probably null |
Het |
| Hao2 |
A |
T |
3: 98,790,963 (GRCm39) |
N70K |
probably benign |
Het |
| Heatr4 |
A |
G |
12: 84,001,478 (GRCm39) |
I888T |
probably damaging |
Het |
| Herc4 |
T |
A |
10: 63,151,565 (GRCm39) |
N935K |
probably benign |
Het |
| Kdm3b |
G |
T |
18: 34,926,129 (GRCm39) |
A90S |
probably benign |
Het |
| Kif3b |
C |
T |
2: 153,158,427 (GRCm39) |
T76M |
probably damaging |
Het |
| Kmo |
A |
T |
1: 175,474,718 (GRCm39) |
H134L |
probably damaging |
Het |
| Lama3 |
C |
A |
18: 12,544,688 (GRCm39) |
Q344K |
probably null |
Het |
| Man2a2 |
A |
T |
7: 80,018,038 (GRCm39) |
F211I |
possibly damaging |
Het |
| Mmp19 |
T |
C |
10: 128,631,471 (GRCm39) |
I189T |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,575,629 (GRCm39) |
G1710S |
unknown |
Het |
| Myo15b |
G |
A |
11: 115,749,610 (GRCm39) |
G127S |
|
Het |
| Naca |
T |
C |
10: 127,880,112 (GRCm39) |
S1715P |
possibly damaging |
Het |
| Ndufs4 |
T |
C |
13: 114,425,339 (GRCm39) |
N163S |
probably damaging |
Het |
| Nim1k |
G |
A |
13: 120,173,986 (GRCm39) |
R303* |
probably null |
Het |
| Nkx6-3 |
A |
T |
8: 23,643,707 (GRCm39) |
Y36F |
possibly damaging |
Het |
| Osbpl10 |
C |
A |
9: 115,005,136 (GRCm39) |
Q188K |
probably benign |
Het |
| Pak6 |
G |
T |
2: 118,520,478 (GRCm39) |
R156S |
probably benign |
Het |
| Pcf11 |
T |
A |
7: 92,307,998 (GRCm39) |
K723N |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,009,490 (GRCm39) |
Y546C |
possibly damaging |
Het |
| Pik3r6 |
A |
G |
11: 68,430,783 (GRCm39) |
Y528C |
probably damaging |
Het |
| Ppp3cb |
T |
A |
14: 20,581,844 (GRCm39) |
N57I |
probably benign |
Het |
| Preb |
A |
G |
5: 31,116,722 (GRCm39) |
L57P |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,482,232 (GRCm39) |
D425G |
probably damaging |
Het |
| Rab35 |
G |
A |
5: 115,781,467 (GRCm39) |
V90I |
probably damaging |
Het |
| Rab3gap2 |
G |
C |
1: 184,995,017 (GRCm39) |
S852T |
probably benign |
Het |
| Rcn1 |
C |
T |
2: 105,219,464 (GRCm39) |
R243Q |
probably null |
Het |
| Rom1 |
A |
G |
19: 8,906,465 (GRCm39) |
S25P |
probably damaging |
Het |
| Shank3 |
C |
A |
15: 89,387,775 (GRCm39) |
Y286* |
probably null |
Het |
| Sis |
T |
A |
3: 72,836,742 (GRCm39) |
I837L |
probably benign |
Het |
| Ski |
T |
C |
4: 155,245,083 (GRCm39) |
S388G |
possibly damaging |
Het |
| Skint1 |
T |
C |
4: 111,867,921 (GRCm39) |
F16S |
probably benign |
Het |
| Slc22a21 |
T |
G |
11: 53,846,904 (GRCm39) |
D323A |
possibly damaging |
Het |
| Slc40a1 |
G |
A |
1: 45,951,467 (GRCm39) |
T230I |
probably damaging |
Het |
| Snrpa1 |
G |
A |
7: 65,720,381 (GRCm39) |
G195R |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,124,436 (GRCm39) |
D2858V |
probably benign |
Het |
| Spdl1 |
G |
A |
11: 34,704,252 (GRCm39) |
T527I |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,658,815 (GRCm39) |
L1240Q |
probably benign |
Het |
| Tef |
T |
A |
15: 81,687,037 (GRCm39) |
V18D |
possibly damaging |
Het |
| Uckl1 |
T |
C |
2: 181,216,280 (GRCm39) |
D155G |
probably damaging |
Het |
| Vmn1r215 |
A |
G |
13: 23,260,037 (GRCm39) |
I26V |
probably benign |
Het |
| Wac |
A |
G |
18: 7,871,606 (GRCm39) |
M46V |
probably benign |
Het |
| Wbp1 |
C |
T |
6: 83,096,866 (GRCm39) |
G146D |
probably damaging |
Het |
| Zfand2a |
A |
C |
5: 139,459,546 (GRCm39) |
S147A |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,464,534 (GRCm39) |
Y1589F |
probably benign |
Het |
| Zfp345 |
G |
C |
2: 150,314,348 (GRCm39) |
D396E |
probably benign |
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 |
|
R7605:Spata31d1c
|
UTSW |
13 |
65,183,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- TGATGCAGACCTAGGCCTAC -3'
(R):5'- ATGCCCTAGGACAGCAATG -3'
Sequencing Primer
(F):5'- TACAGTGAGGCCCATGCAATCTC -3'
(R):5'- TCATGTTTCTGAGACAGACAGGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation