Incidental Mutation 'R2030:Spata31g1'
ID |
221110 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31g1
|
Ensembl Gene |
ENSMUSG00000028451 |
Gene Name |
SPATA31 subfamily G member 1 |
Synonyms |
1700022I11Rik |
MMRRC Submission |
040037-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R2030 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
42969946-42974325 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 42974131 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 1155
(Q1155*)
|
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: Q1155*
|
SMART Domains |
Protein: ENSMUSP00000030163 Gene: ENSMUSG00000028451 AA Change: Q1155*
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 benign
Transcript: ENSMUST00000139127
|
SMART Domains |
Protein: ENSMUSP00000116415 Gene: ENSMUSG00000028451
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 |
noncoding transcript
Transcript: ENSMUST00000189414
|
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adtrp |
C |
T |
13: 41,981,735 (GRCm39) |
V13I |
probably damaging |
Het |
Ak2 |
A |
G |
4: 128,902,013 (GRCm39) |
K229E |
probably benign |
Het |
Atp13a4 |
A |
T |
16: 29,241,502 (GRCm39) |
V741D |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,197,697 (GRCm39) |
M896K |
probably benign |
Het |
Ccser1 |
C |
T |
6: 61,288,547 (GRCm39) |
R237C |
probably benign |
Het |
Cdk7 |
A |
G |
13: 100,859,182 (GRCm39) |
|
probably benign |
Het |
CK137956 |
A |
G |
4: 127,845,180 (GRCm39) |
S188P |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dbndd2 |
A |
G |
2: 164,330,563 (GRCm39) |
D72G |
probably damaging |
Het |
Disp3 |
A |
T |
4: 148,344,423 (GRCm39) |
I493N |
probably damaging |
Het |
Dnaaf10 |
A |
T |
11: 17,179,832 (GRCm39) |
T278S |
probably benign |
Het |
Epx |
T |
C |
11: 87,755,650 (GRCm39) |
D678G |
probably damaging |
Het |
Fbxw5 |
G |
T |
2: 25,394,810 (GRCm39) |
V235L |
probably damaging |
Het |
Fmo4 |
T |
A |
1: 162,621,741 (GRCm39) |
D490V |
probably damaging |
Het |
Fuca2 |
A |
G |
10: 13,382,518 (GRCm39) |
Y268C |
probably damaging |
Het |
Gm4787 |
C |
T |
12: 81,425,544 (GRCm39) |
V205I |
probably damaging |
Het |
Gpat3 |
G |
A |
5: 101,045,687 (GRCm39) |
R437K |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,834,121 (GRCm39) |
S3109G |
probably damaging |
Het |
Hr |
G |
A |
14: 70,808,888 (GRCm39) |
R1117H |
probably damaging |
Het |
Htra4 |
T |
A |
8: 25,523,593 (GRCm39) |
D324V |
probably damaging |
Het |
Kcnd3 |
A |
G |
3: 105,366,853 (GRCm39) |
Y241C |
probably damaging |
Het |
Kcp |
G |
A |
6: 29,489,071 (GRCm39) |
L1072F |
probably damaging |
Het |
Lrrc52 |
T |
C |
1: 167,294,028 (GRCm39) |
N86D |
probably benign |
Het |
Mindy4 |
A |
G |
6: 55,188,247 (GRCm39) |
T26A |
probably damaging |
Het |
Mre11a |
A |
T |
9: 14,707,101 (GRCm39) |
N117Y |
probably damaging |
Het |
Mrgprb1 |
A |
T |
7: 48,097,076 (GRCm39) |
S279T |
possibly damaging |
Het |
Myh13 |
T |
G |
11: 67,241,064 (GRCm39) |
S814A |
probably benign |
Het |
Ncapd2 |
A |
G |
6: 125,153,678 (GRCm39) |
V679A |
possibly damaging |
Het |
Nipbl |
A |
T |
15: 8,379,771 (GRCm39) |
V1007D |
probably damaging |
Het |
Nlrp12 |
T |
A |
7: 3,277,049 (GRCm39) |
H960L |
probably damaging |
Het |
Or3a1c |
T |
A |
11: 74,046,769 (GRCm39) |
M263K |
possibly damaging |
Het |
Or4a72 |
C |
T |
2: 89,405,558 (GRCm39) |
V171I |
probably benign |
Het |
Or7e169 |
A |
G |
9: 19,757,709 (GRCm39) |
S69P |
probably benign |
Het |
Pklr |
A |
G |
3: 89,050,545 (GRCm39) |
Y402C |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,859,334 (GRCm39) |
T1319A |
possibly damaging |
Het |
Rif1 |
T |
A |
2: 51,982,358 (GRCm39) |
V541E |
probably damaging |
Het |
Ryk |
T |
A |
9: 102,758,855 (GRCm39) |
I248N |
possibly damaging |
Het |
Shisa2 |
A |
T |
14: 59,867,134 (GRCm39) |
I129F |
probably damaging |
Het |
Snap25 |
T |
G |
2: 136,611,973 (GRCm39) |
|
probably benign |
Het |
Snx31 |
G |
A |
15: 36,525,848 (GRCm39) |
P284S |
probably benign |
Het |
Tas2r140 |
A |
G |
6: 40,469,154 (GRCm39) |
K328R |
possibly damaging |
Het |
Tas2r140 |
T |
C |
6: 133,032,213 (GRCm39) |
T182A |
probably benign |
Het |
Thumpd2 |
G |
A |
17: 81,372,387 (GRCm39) |
R35C |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,937,443 (GRCm39) |
N3811Y |
probably damaging |
Het |
Tpte |
A |
C |
8: 22,835,901 (GRCm39) |
N428T |
probably damaging |
Het |
Trpm6 |
A |
G |
19: 18,831,629 (GRCm39) |
D1498G |
probably benign |
Het |
Tsc2 |
C |
T |
17: 24,842,444 (GRCm39) |
|
probably benign |
Het |
Ttn |
C |
T |
2: 76,703,277 (GRCm39) |
|
probably benign |
Het |
Wdr24 |
A |
G |
17: 26,045,017 (GRCm39) |
I251V |
probably benign |
Het |
Zc3h6 |
T |
C |
2: 128,848,006 (GRCm39) |
Y278H |
probably damaging |
Het |
Zfat |
A |
G |
15: 67,990,783 (GRCm39) |
|
probably null |
Het |
Zfp442 |
A |
T |
2: 150,250,042 (GRCm39) |
V620E |
possibly damaging |
Het |
Zfp788 |
A |
G |
7: 41,298,984 (GRCm39) |
H540R |
probably 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 |
|
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 |
|
R7777:Spata31g1
|
UTSW |
4 |
42,970,171 (GRCm39) |
nonsense |
probably null |
|
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'- GCATAAAGCTCAGAGTTCCCC -3'
(R):5'- GTGGTTACTCTGCTCACTCCAG -3'
Sequencing Primer
(F):5'- AGAGTTCCCCACATTCGGC -3'
(R):5'- CATTACAGGTAGTTGTGAGCCACC -3'
|
Posted On |
2014-08-25 |