Incidental Mutation 'R3981:Spata31g1'
ID |
351157 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31g1
|
Ensembl Gene |
ENSMUSG00000028451 |
Gene Name |
SPATA31 subfamily G member 1 |
Synonyms |
1700022I11Rik |
MMRRC Submission |
040943-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R3981 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
42969946-42974325 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 42971534 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 289
(T289I)
|
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 damaging
Transcript: ENSMUST00000030163
AA Change: T289I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000030163 Gene: ENSMUSG00000028451 AA Change: T289I
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 |
0.0888 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
98% (58/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
G |
11: 9,482,407 (GRCm39) |
C4313G |
probably benign |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
Bhlhe22 |
G |
T |
3: 18,109,058 (GRCm39) |
R36L |
probably damaging |
Het |
Cacnb2 |
A |
G |
2: 14,609,314 (GRCm39) |
E18G |
probably benign |
Het |
Cct2 |
G |
A |
10: 116,890,040 (GRCm39) |
P10L |
probably damaging |
Het |
Cep295 |
G |
T |
9: 15,228,363 (GRCm39) |
|
probably benign |
Het |
Cep89 |
A |
G |
7: 35,137,808 (GRCm39) |
R731G |
probably damaging |
Het |
Chrnb3 |
C |
T |
8: 27,884,034 (GRCm39) |
T257M |
probably damaging |
Het |
Clca3a1 |
T |
A |
3: 144,461,070 (GRCm39) |
T194S |
probably benign |
Het |
Clca4b |
T |
C |
3: 144,631,797 (GRCm39) |
K236R |
probably benign |
Het |
Col18a1 |
C |
A |
10: 76,924,721 (GRCm39) |
D23Y |
probably damaging |
Het |
Cry1 |
A |
T |
10: 84,982,456 (GRCm39) |
Y297N |
probably damaging |
Het |
Defb38 |
A |
G |
8: 19,076,483 (GRCm39) |
|
probably null |
Het |
Dlgap1 |
A |
G |
17: 70,823,780 (GRCm39) |
K255R |
probably damaging |
Het |
Erich6 |
T |
C |
3: 58,544,125 (GRCm39) |
E154G |
probably benign |
Het |
Esf1 |
G |
A |
2: 140,000,476 (GRCm39) |
P437S |
probably benign |
Het |
Fkbp7 |
A |
C |
2: 76,493,601 (GRCm39) |
N197K |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,789,006 (GRCm39) |
D342E |
probably benign |
Het |
Gbx1 |
T |
C |
5: 24,731,213 (GRCm39) |
D201G |
probably benign |
Het |
Gm15056 |
T |
A |
8: 21,390,957 (GRCm39) |
K25N |
possibly damaging |
Het |
Grb7 |
T |
G |
11: 98,345,391 (GRCm39) |
|
probably benign |
Het |
H2-M3 |
C |
T |
17: 37,582,021 (GRCm39) |
A159V |
probably damaging |
Het |
Hcar1 |
T |
C |
5: 124,016,683 (GRCm39) |
N336S |
probably benign |
Het |
Ift122 |
T |
C |
6: 115,890,882 (GRCm39) |
V807A |
probably benign |
Het |
Maml2 |
T |
C |
9: 13,532,364 (GRCm39) |
V526A |
possibly damaging |
Het |
Map3k20 |
C |
T |
2: 72,268,571 (GRCm39) |
T526I |
probably damaging |
Het |
Mfap2 |
A |
G |
4: 140,741,554 (GRCm39) |
Q71R |
possibly damaging |
Het |
Mmd2 |
T |
C |
5: 142,550,554 (GRCm39) |
Y228C |
probably damaging |
Het |
Mme |
T |
A |
3: 63,235,485 (GRCm39) |
Y178N |
probably damaging |
Het |
Mras |
T |
C |
9: 99,293,469 (GRCm39) |
D57G |
probably damaging |
Het |
Muc5ac |
T |
C |
7: 141,367,512 (GRCm39) |
C2274R |
possibly damaging |
Het |
Or8j3c |
T |
A |
2: 86,253,186 (GRCm39) |
Y278F |
probably damaging |
Het |
Palmd |
T |
C |
3: 116,717,472 (GRCm39) |
T342A |
probably benign |
Het |
Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
Rdh19 |
A |
G |
10: 127,686,017 (GRCm39) |
N43S |
probably benign |
Het |
Ros1 |
G |
A |
10: 51,996,974 (GRCm39) |
H1233Y |
possibly damaging |
Het |
Samd8 |
A |
G |
14: 21,830,248 (GRCm39) |
R225G |
probably null |
Het |
Slc7a11 |
C |
A |
3: 50,382,223 (GRCm39) |
V175L |
probably benign |
Het |
Spata31d1c |
A |
G |
13: 65,182,925 (GRCm39) |
T156A |
possibly damaging |
Het |
Spmip9 |
T |
C |
6: 70,890,283 (GRCm39) |
N170D |
possibly damaging |
Het |
Stxbp5 |
T |
C |
10: 9,665,060 (GRCm39) |
|
probably benign |
Het |
Tec |
T |
A |
5: 72,980,942 (GRCm39) |
|
probably benign |
Het |
Vps16 |
T |
C |
2: 130,284,514 (GRCm39) |
W728R |
possibly damaging |
Het |
Xirp1 |
T |
C |
9: 119,846,810 (GRCm39) |
E691G |
probably damaging |
Het |
Zfp605 |
T |
C |
5: 110,275,604 (GRCm39) |
S241P |
probably damaging |
Het |
Zfp839 |
G |
A |
12: 110,832,765 (GRCm39) |
G561D |
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 |
|
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 |
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'- TGCGTACAACCTGCTGCTTC -3'
(R):5'- AGGACTTCCTGAGGGTTAAAAG -3'
Sequencing Primer
(F):5'- TACAACCTGCTGCTTCCCTGTTAC -3'
(R):5'- CTTCCTGAGGGTTAAAAGGATACAAC -3'
|
Posted On |
2015-10-08 |