Incidental Mutation 'PIT4382001:Spata31d1c'
| ID |
554711 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1c
|
| Ensembl Gene |
ENSMUSG00000074849 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1C |
| Synonyms |
4932441B19Rik, Fam75d1c |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4382001 (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 C
at 65183985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 509
(I509T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099427]
|
| AlphaFold |
E9QAF1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099427
AA Change: I509T
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: I509T
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 92.9%
- 3x: 90.5%
- 10x: 84.6%
- 20x: 72.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430038I01Rik |
G |
T |
7: 136,978,711 (GRCm39) |
H144N |
unknown |
Het |
| Acsm4 |
C |
T |
7: 119,297,798 (GRCm39) |
T145M |
probably damaging |
Het |
| Adam10 |
T |
C |
9: 70,673,363 (GRCm39) |
L498P |
probably damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,522,934 (GRCm39) |
L430P |
|
Het |
| Alk |
T |
C |
17: 72,256,916 (GRCm39) |
M648V |
probably benign |
Het |
| Arhgap35 |
T |
C |
7: 16,297,794 (GRCm39) |
R424G |
possibly damaging |
Het |
| Baiap2l1 |
T |
C |
5: 144,215,480 (GRCm39) |
K342E |
possibly damaging |
Het |
| Ccdc54 |
C |
T |
16: 50,411,219 (GRCm39) |
V16M |
probably damaging |
Het |
| Chil3 |
T |
G |
3: 106,055,975 (GRCm39) |
D366A |
probably damaging |
Het |
| Chuk |
A |
G |
19: 44,087,046 (GRCm39) |
V151A |
probably damaging |
Het |
| Cpd |
T |
G |
11: 76,688,614 (GRCm39) |
H886P |
probably benign |
Het |
| Cped1 |
T |
A |
6: 22,222,449 (GRCm39) |
C736* |
probably null |
Het |
| Creb3l3 |
T |
C |
10: 80,920,746 (GRCm39) |
E428G |
probably benign |
Het |
| Csad |
G |
A |
15: 102,097,085 (GRCm39) |
L7F |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 31,006,412 (GRCm39) |
D2255N |
probably damaging |
Het |
| Dnajb12 |
T |
C |
10: 59,728,508 (GRCm39) |
Y159H |
probably damaging |
Het |
| Dpysl4 |
T |
A |
7: 138,669,494 (GRCm39) |
Y57* |
probably null |
Het |
| F2rl1 |
T |
G |
13: 95,650,154 (GRCm39) |
N243H |
probably benign |
Het |
| Fhl4 |
T |
C |
10: 84,934,293 (GRCm39) |
K163E |
possibly damaging |
Het |
| Flot2 |
T |
C |
11: 77,944,193 (GRCm39) |
S46P |
possibly damaging |
Het |
| Fsip2 |
C |
A |
2: 82,821,196 (GRCm39) |
T5643K |
possibly damaging |
Het |
| Golga4 |
T |
A |
9: 118,382,521 (GRCm39) |
Y542N |
possibly damaging |
Het |
| Il17re |
A |
G |
6: 113,446,038 (GRCm39) |
T426A |
probably benign |
Het |
| Kdm2a |
T |
A |
19: 4,393,201 (GRCm39) |
M385L |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,942,140 (GRCm39) |
S744P |
probably damaging |
Het |
| Krtap20-1 |
T |
A |
16: 88,881,048 (GRCm39) |
Y26* |
probably null |
Het |
| Lama2 |
T |
C |
10: 27,080,901 (GRCm39) |
D974G |
probably damaging |
Het |
| Ldc1 |
A |
T |
4: 130,112,954 (GRCm39) |
N147K |
possibly damaging |
Het |
| Lipo5 |
A |
T |
19: 33,443,339 (GRCm39) |
L159Q |
probably null |
Het |
| LTO1 |
T |
A |
7: 144,470,181 (GRCm39) |
Y37N |
probably damaging |
Het |
| Mau2 |
C |
T |
8: 70,483,302 (GRCm39) |
E187K |
possibly damaging |
Het |
| Mrpl9 |
T |
C |
3: 94,355,136 (GRCm39) |
L236P |
probably benign |
Het |
| Mta1 |
A |
G |
12: 113,096,870 (GRCm39) |
T564A |
probably benign |
Het |
| Mylk |
C |
T |
16: 34,696,012 (GRCm39) |
S249L |
probably damaging |
Het |
| Ncor1 |
G |
T |
11: 62,235,489 (GRCm39) |
T331K |
probably damaging |
Het |
| Nsun3 |
T |
A |
16: 62,606,228 (GRCm39) |
K15N |
probably damaging |
Het |
| Nsun5 |
A |
G |
5: 135,400,355 (GRCm39) |
Y132C |
probably benign |
Het |
| Obsl1 |
T |
A |
1: 75,464,607 (GRCm39) |
T1605S |
probably benign |
Het |
| Or10a3n |
A |
G |
7: 108,493,309 (GRCm39) |
Y107H |
probably damaging |
Het |
| Or51f1 |
A |
G |
7: 102,505,809 (GRCm39) |
Y227H |
probably damaging |
Het |
| Or51t4 |
A |
T |
7: 102,598,656 (GRCm39) |
Y328F |
probably benign |
Het |
| Or5b109 |
T |
C |
19: 13,212,259 (GRCm39) |
I215T |
probably damaging |
Het |
| P2rx1 |
A |
G |
11: 72,900,026 (GRCm39) |
N148D |
probably benign |
Het |
| Pogz |
T |
A |
3: 94,787,107 (GRCm39) |
S1232T |
probably damaging |
Het |
| Polr3b |
C |
A |
10: 84,520,049 (GRCm39) |
T655N |
probably damaging |
Het |
| Prss34 |
T |
C |
17: 25,517,882 (GRCm39) |
|
probably null |
Het |
| Rhpn2 |
A |
G |
7: 35,090,178 (GRCm39) |
|
probably null |
Het |
| Runx1 |
T |
A |
16: 92,410,648 (GRCm39) |
D256V |
probably damaging |
Het |
| Shc1 |
C |
A |
3: 89,334,715 (GRCm39) |
Q525K |
probably benign |
Het |
| Slc10a5 |
T |
C |
3: 10,400,507 (GRCm39) |
D51G |
probably benign |
Het |
| Slc6a3 |
A |
T |
13: 73,719,642 (GRCm39) |
N557I |
probably benign |
Het |
| Slmap |
C |
T |
14: 26,254,586 (GRCm39) |
R32H |
probably damaging |
Het |
| Spata31e4 |
A |
T |
13: 50,855,007 (GRCm39) |
E215V |
probably damaging |
Het |
| Srr |
C |
A |
11: 74,801,134 (GRCm39) |
V138F |
probably benign |
Het |
| Tas2r118 |
G |
A |
6: 23,969,785 (GRCm39) |
T92I |
possibly damaging |
Het |
| Tcaf2 |
A |
T |
6: 42,601,300 (GRCm39) |
*920K |
probably null |
Het |
| Tenm2 |
T |
A |
11: 35,954,729 (GRCm39) |
Y1141F |
probably damaging |
Het |
| Thoc6 |
T |
C |
17: 23,887,841 (GRCm39) |
N322S |
probably benign |
Het |
| Tlcd2 |
A |
G |
11: 75,359,417 (GRCm39) |
I70V |
probably benign |
Het |
| Tmem214 |
A |
G |
5: 31,028,795 (GRCm39) |
D128G |
possibly damaging |
Het |
| Trav13d-4 |
T |
C |
14: 53,995,238 (GRCm39) |
V64A |
probably benign |
Het |
| Tyro3 |
T |
C |
2: 119,632,845 (GRCm39) |
W122R |
probably damaging |
Het |
| Ugcg |
A |
G |
4: 59,213,246 (GRCm39) |
D144G |
possibly damaging |
Het |
| Uimc1 |
T |
C |
13: 55,178,828 (GRCm39) |
D627G |
probably benign |
Het |
| Utp6 |
T |
C |
11: 79,853,099 (GRCm39) |
I13V |
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,614,605 (GRCm39) |
K775R |
probably damaging |
Het |
| Wdfy3 |
CG |
C |
5: 102,030,827 (GRCm39) |
|
probably null |
Het |
| Zw10 |
C |
T |
9: 48,982,944 (GRCm39) |
T525I |
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 |
|
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 |
|
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'- AACTTGTCCCAAAGTCTGTCC -3'
(R):5'- GGATGAGCCTCTTTCGAAGGTG -3'
Sequencing Primer
(F):5'- AAAGTCTGTCCCAATCTCAGTC -3'
(R):5'- TCTGGAGCTCACTGGTGATAAAGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation