Incidental Mutation 'R7777:Spata31g1'
ID |
598940 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31g1
|
Ensembl Gene |
ENSMUSG00000028451 |
Gene Name |
SPATA31 subfamily G member 1 |
Synonyms |
1700022I11Rik |
MMRRC Submission |
045833-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R7777 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
42969946-42974325 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 42970171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 53
(Q53*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030163
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030163]
[ENSMUST00000139127]
[ENSMUST00000185904]
[ENSMUST00000190902]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000030163
AA Change: Q53*
|
SMART Domains |
Protein: ENSMUSP00000030163 Gene: ENSMUSG00000028451 AA Change: Q53*
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
55 |
N/A |
INTRINSIC |
low complexity region
|
85 |
93 |
N/A |
INTRINSIC |
low complexity region
|
253 |
269 |
N/A |
INTRINSIC |
internal_repeat_1
|
322 |
432 |
6.53e-5 |
PROSPERO |
low complexity region
|
434 |
449 |
N/A |
INTRINSIC |
low complexity region
|
507 |
521 |
N/A |
INTRINSIC |
low complexity region
|
599 |
610 |
N/A |
INTRINSIC |
internal_repeat_1
|
622 |
738 |
6.53e-5 |
PROSPERO |
low complexity region
|
847 |
861 |
N/A |
INTRINSIC |
low complexity region
|
897 |
908 |
N/A |
INTRINSIC |
low complexity region
|
914 |
925 |
N/A |
INTRINSIC |
low complexity region
|
944 |
958 |
N/A |
INTRINSIC |
low complexity region
|
990 |
1001 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000139127
AA Change: Q53*
|
SMART Domains |
Protein: ENSMUSP00000116415 Gene: ENSMUSG00000028451 AA Change: Q53*
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
55 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185904
|
SMART Domains |
Protein: ENSMUSP00000140492 Gene: ENSMUSG00000028451
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
33 |
N/A |
INTRINSIC |
Pfam:FAM75
|
99 |
149 |
2e-5 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190902
|
SMART Domains |
Protein: ENSMUSP00000140363 Gene: ENSMUSG00000028451
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
57 |
N/A |
INTRINSIC |
low complexity region
|
217 |
233 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
C |
T |
12: 113,453,758 (GRCm39) |
P192S |
possibly damaging |
Het |
Arhgef10 |
A |
G |
8: 14,995,373 (GRCm39) |
T353A |
probably damaging |
Het |
Cabyr |
A |
G |
18: 12,877,828 (GRCm39) |
D55G |
probably damaging |
Het |
Dcaf4 |
T |
C |
12: 83,584,733 (GRCm39) |
V322A |
probably damaging |
Het |
Ephb2 |
T |
A |
4: 136,498,947 (GRCm39) |
E44V |
possibly damaging |
Het |
Fam3c |
T |
C |
6: 22,328,573 (GRCm39) |
I105V |
probably benign |
Het |
Fras1 |
A |
G |
5: 96,900,763 (GRCm39) |
D2994G |
probably damaging |
Het |
Fryl |
C |
T |
5: 73,228,641 (GRCm39) |
D1697N |
probably damaging |
Het |
Gapdh |
A |
T |
6: 125,139,911 (GRCm39) |
Y164* |
probably null |
Het |
Gm4353 |
T |
G |
7: 115,682,998 (GRCm39) |
Q194H |
possibly damaging |
Het |
Ilvbl |
T |
A |
10: 78,413,085 (GRCm39) |
|
probably null |
Het |
Ism2 |
T |
A |
12: 87,333,658 (GRCm39) |
|
probably null |
Het |
Jak2 |
C |
T |
19: 29,254,268 (GRCm39) |
T196I |
probably benign |
Het |
Lcor |
T |
G |
19: 41,547,234 (GRCm39) |
Y273D |
probably benign |
Het |
Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
Lysmd4 |
T |
A |
7: 66,873,446 (GRCm39) |
M27K |
possibly damaging |
Het |
Muc17 |
G |
A |
5: 137,175,564 (GRCm39) |
|
silent |
Het |
Or11h4b |
A |
T |
14: 50,918,261 (GRCm39) |
Y277N |
probably damaging |
Het |
Or13a25 |
T |
A |
7: 140,247,854 (GRCm39) |
I211N |
probably benign |
Het |
Or5m10 |
A |
G |
2: 85,717,951 (GRCm39) |
E269G |
possibly damaging |
Het |
Oscp1 |
T |
C |
4: 125,958,774 (GRCm39) |
|
probably null |
Het |
Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
Pkd2l2 |
C |
A |
18: 34,549,913 (GRCm39) |
P186Q |
probably damaging |
Het |
Plcb1 |
G |
A |
2: 135,062,677 (GRCm39) |
G96R |
possibly damaging |
Het |
Plcd3 |
G |
C |
11: 102,965,481 (GRCm39) |
R535G |
probably benign |
Het |
Plcg1 |
A |
G |
2: 160,596,523 (GRCm39) |
M681V |
possibly damaging |
Het |
Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
Polrmt |
A |
T |
10: 79,575,022 (GRCm39) |
D836E |
probably benign |
Het |
Pramel12 |
T |
C |
4: 143,144,331 (GRCm39) |
Y226H |
possibly damaging |
Het |
Prkag1 |
A |
T |
15: 98,712,478 (GRCm39) |
I149N |
probably damaging |
Het |
Prkci |
A |
T |
3: 31,104,362 (GRCm39) |
Q575L |
possibly damaging |
Het |
Prss40 |
C |
T |
1: 34,591,846 (GRCm39) |
W276* |
probably null |
Het |
Ptprn |
T |
C |
1: 75,228,946 (GRCm39) |
D823G |
possibly damaging |
Het |
Radil |
A |
C |
5: 142,529,303 (GRCm39) |
F131C |
probably damaging |
Het |
Rif1 |
A |
G |
2: 52,006,368 (GRCm39) |
I550V |
probably benign |
Het |
Rmnd1 |
T |
C |
10: 4,361,713 (GRCm39) |
E320G |
probably damaging |
Het |
Sec31b |
T |
A |
19: 44,512,212 (GRCm39) |
K561* |
probably null |
Het |
Tbx5 |
A |
C |
5: 120,021,232 (GRCm39) |
T413P |
probably benign |
Het |
Tmprss7 |
A |
G |
16: 45,480,963 (GRCm39) |
|
probably null |
Het |
Tnfaip8l2 |
T |
C |
3: 95,047,307 (GRCm39) |
*185W |
probably null |
Het |
Tpst2 |
A |
G |
5: 112,457,560 (GRCm39) |
E296G |
possibly damaging |
Het |
Ubn2 |
T |
A |
6: 38,467,688 (GRCm39) |
S801T |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,332,638 (GRCm39) |
S1141G |
|
Het |
Uts2r |
A |
G |
11: 121,052,279 (GRCm39) |
N381S |
probably benign |
Het |
Vmn2r44 |
G |
T |
7: 8,381,314 (GRCm39) |
T193K |
possibly damaging |
Het |
Wdr18 |
T |
A |
10: 79,801,884 (GRCm39) |
M223K |
probably benign |
Het |
Wdr64 |
T |
C |
1: 175,617,564 (GRCm39) |
C715R |
possibly damaging |
Het |
Zfp672 |
A |
G |
11: 58,208,081 (GRCm39) |
F80S |
possibly damaging |
Het |
|
Other mutations in Spata31g1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00161:Spata31g1
|
APN |
4 |
42,973,982 (GRCm39) |
missense |
probably benign |
0.40 |
IGL01340:Spata31g1
|
APN |
4 |
42,971,984 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02078:Spata31g1
|
APN |
4 |
42,972,685 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02082:Spata31g1
|
APN |
4 |
42,970,198 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02993:Spata31g1
|
APN |
4 |
42,971,719 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03174:Spata31g1
|
APN |
4 |
42,970,975 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03188:Spata31g1
|
APN |
4 |
42,971,225 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0031:Spata31g1
|
UTSW |
4 |
42,973,712 (GRCm39) |
missense |
probably damaging |
0.99 |
R0179:Spata31g1
|
UTSW |
4 |
42,972,214 (GRCm39) |
missense |
probably benign |
0.00 |
R0409:Spata31g1
|
UTSW |
4 |
42,972,203 (GRCm39) |
missense |
probably damaging |
0.98 |
R0422:Spata31g1
|
UTSW |
4 |
42,972,199 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0462:Spata31g1
|
UTSW |
4 |
42,973,429 (GRCm39) |
missense |
probably benign |
|
R0467:Spata31g1
|
UTSW |
4 |
42,972,715 (GRCm39) |
missense |
probably benign |
|
R0677:Spata31g1
|
UTSW |
4 |
42,970,952 (GRCm39) |
nonsense |
probably null |
|
R0723:Spata31g1
|
UTSW |
4 |
42,971,691 (GRCm39) |
missense |
probably damaging |
0.98 |
R1479:Spata31g1
|
UTSW |
4 |
42,972,543 (GRCm39) |
missense |
possibly damaging |
0.55 |
R1586:Spata31g1
|
UTSW |
4 |
42,971,512 (GRCm39) |
missense |
probably benign |
0.03 |
R1956:Spata31g1
|
UTSW |
4 |
42,970,105 (GRCm39) |
splice site |
probably null |
|
R2030:Spata31g1
|
UTSW |
4 |
42,974,131 (GRCm39) |
nonsense |
probably null |
|
R2074:Spata31g1
|
UTSW |
4 |
42,974,171 (GRCm39) |
missense |
probably benign |
0.38 |
R2162:Spata31g1
|
UTSW |
4 |
42,972,238 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2419:Spata31g1
|
UTSW |
4 |
42,974,146 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2939:Spata31g1
|
UTSW |
4 |
42,972,946 (GRCm39) |
missense |
probably benign |
0.04 |
R3615:Spata31g1
|
UTSW |
4 |
42,971,864 (GRCm39) |
missense |
probably benign |
0.10 |
R3616:Spata31g1
|
UTSW |
4 |
42,971,864 (GRCm39) |
missense |
probably benign |
0.10 |
R3981:Spata31g1
|
UTSW |
4 |
42,971,534 (GRCm39) |
missense |
probably damaging |
0.99 |
R5037:Spata31g1
|
UTSW |
4 |
42,972,195 (GRCm39) |
missense |
probably benign |
|
R5252:Spata31g1
|
UTSW |
4 |
42,971,706 (GRCm39) |
missense |
probably benign |
0.00 |
R5526:Spata31g1
|
UTSW |
4 |
42,972,125 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5642:Spata31g1
|
UTSW |
4 |
42,971,831 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5935:Spata31g1
|
UTSW |
4 |
42,971,465 (GRCm39) |
missense |
probably benign |
|
R6082:Spata31g1
|
UTSW |
4 |
42,972,511 (GRCm39) |
missense |
probably benign |
0.27 |
R6136:Spata31g1
|
UTSW |
4 |
42,972,853 (GRCm39) |
missense |
probably damaging |
0.96 |
R6361:Spata31g1
|
UTSW |
4 |
42,972,695 (GRCm39) |
missense |
probably benign |
0.05 |
R6494:Spata31g1
|
UTSW |
4 |
42,971,924 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6641:Spata31g1
|
UTSW |
4 |
42,971,245 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7289:Spata31g1
|
UTSW |
4 |
42,973,252 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7289:Spata31g1
|
UTSW |
4 |
42,972,379 (GRCm39) |
missense |
probably benign |
0.00 |
R7777:Spata31g1
|
UTSW |
4 |
42,971,095 (GRCm39) |
missense |
probably benign |
|
R7893:Spata31g1
|
UTSW |
4 |
42,971,539 (GRCm39) |
missense |
probably damaging |
0.99 |
R8066:Spata31g1
|
UTSW |
4 |
42,971,929 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8311:Spata31g1
|
UTSW |
4 |
42,973,169 (GRCm39) |
missense |
probably benign |
0.19 |
R8706:Spata31g1
|
UTSW |
4 |
42,971,776 (GRCm39) |
missense |
probably benign |
0.02 |
R8743:Spata31g1
|
UTSW |
4 |
42,971,030 (GRCm39) |
missense |
probably benign |
0.00 |
R8774:Spata31g1
|
UTSW |
4 |
42,971,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R8774-TAIL:Spata31g1
|
UTSW |
4 |
42,971,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R8806:Spata31g1
|
UTSW |
4 |
42,971,261 (GRCm39) |
missense |
probably benign |
0.37 |
R8916:Spata31g1
|
UTSW |
4 |
42,973,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R8927:Spata31g1
|
UTSW |
4 |
42,972,251 (GRCm39) |
missense |
probably benign |
0.00 |
R8928:Spata31g1
|
UTSW |
4 |
42,972,251 (GRCm39) |
missense |
probably benign |
0.00 |
R8947:Spata31g1
|
UTSW |
4 |
42,972,097 (GRCm39) |
missense |
probably benign |
0.17 |
R9193:Spata31g1
|
UTSW |
4 |
42,971,519 (GRCm39) |
missense |
probably benign |
0.01 |
R9569:Spata31g1
|
UTSW |
4 |
42,971,740 (GRCm39) |
missense |
probably benign |
0.10 |
|
Predicted Primers |
PCR Primer
(F):5'- AAACTGCCGCCAGACTGAAG -3'
(R):5'- CTCAAATCTCATGCCGTTGTGG -3'
Sequencing Primer
(F):5'- CCAGAAGGCTTGCTTTAGGGC -3'
(R):5'- GGCTTATAGACTAACATCTGGGTCC -3'
|
Posted On |
2019-11-26 |