Incidental Mutation 'R6494:Spata31g1'
ID |
522940 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31g1
|
Ensembl Gene |
ENSMUSG00000028451 |
Gene Name |
SPATA31 subfamily G member 1 |
Synonyms |
1700022I11Rik |
MMRRC Submission |
044626-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R6494 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
42969946-42974325 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 42971924 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 419
(N419S)
|
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 |
possibly damaging
Transcript: ENSMUST00000030163
AA Change: N419S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000030163 Gene: ENSMUSG00000028451 AA Change: N419S
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.4%
|
Validation Efficiency |
98% (44/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt2 |
T |
C |
7: 27,315,774 (GRCm39) |
L52P |
possibly damaging |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Chic2 |
T |
C |
5: 75,204,943 (GRCm39) |
E6G |
probably benign |
Het |
Clca4a |
T |
A |
3: 144,663,059 (GRCm39) |
T597S |
probably benign |
Het |
Col5a2 |
C |
A |
1: 45,417,487 (GRCm39) |
D1363Y |
probably damaging |
Het |
Csmd1 |
C |
T |
8: 16,261,709 (GRCm39) |
|
probably null |
Het |
Dnah7b |
A |
T |
1: 46,138,591 (GRCm39) |
Y211F |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,990,845 (GRCm39) |
Y5460F |
possibly damaging |
Het |
Efcab6 |
T |
A |
15: 83,928,523 (GRCm39) |
|
probably null |
Het |
Eno4 |
T |
A |
19: 58,951,226 (GRCm39) |
Y237N |
probably damaging |
Het |
Fer1l4 |
T |
A |
2: 155,887,390 (GRCm39) |
D602V |
probably benign |
Het |
Fgfr2 |
T |
C |
7: 129,800,280 (GRCm39) |
N337S |
probably damaging |
Het |
Fras1 |
C |
T |
5: 96,907,423 (GRCm39) |
R3203C |
possibly damaging |
Het |
Gbp2 |
T |
A |
3: 142,337,769 (GRCm39) |
V295E |
probably damaging |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Hyal4 |
A |
G |
6: 24,765,745 (GRCm39) |
I366M |
possibly damaging |
Het |
Itsn2 |
C |
T |
12: 4,684,792 (GRCm39) |
R448* |
probably null |
Het |
Klhl35 |
G |
T |
7: 99,122,106 (GRCm39) |
W69L |
probably damaging |
Het |
Kpnb1 |
T |
C |
11: 97,072,474 (GRCm39) |
I154V |
probably benign |
Het |
Lax1 |
T |
A |
1: 133,608,186 (GRCm39) |
Y185F |
probably damaging |
Het |
Mmp12 |
C |
T |
9: 7,353,479 (GRCm39) |
P208L |
probably damaging |
Het |
Ndufb8 |
C |
T |
19: 44,543,744 (GRCm39) |
V33M |
probably null |
Het |
Nptn |
T |
G |
9: 58,531,035 (GRCm39) |
C169G |
probably damaging |
Het |
Nuggc |
A |
T |
14: 65,885,671 (GRCm39) |
E766V |
probably damaging |
Het |
Or10ag55-ps1 |
A |
T |
2: 87,139,520 (GRCm39) |
N149I |
possibly damaging |
Het |
Or12e14 |
A |
T |
2: 87,187,976 (GRCm39) |
K63* |
probably null |
Het |
Pcdhga6 |
T |
A |
18: 37,841,594 (GRCm39) |
I438N |
probably damaging |
Het |
Pkn2 |
T |
C |
3: 142,509,429 (GRCm39) |
N721S |
possibly damaging |
Het |
Pole |
T |
C |
5: 110,472,588 (GRCm39) |
W1590R |
possibly damaging |
Het |
Prph2 |
A |
G |
17: 47,222,007 (GRCm39) |
T129A |
probably benign |
Het |
Ptpro |
A |
T |
6: 137,359,640 (GRCm39) |
K403N |
probably benign |
Het |
Rbck1 |
T |
C |
2: 152,172,886 (GRCm39) |
D54G |
possibly damaging |
Het |
Serpinb7 |
T |
A |
1: 107,363,076 (GRCm39) |
L80* |
probably null |
Het |
Setdb2 |
T |
A |
14: 59,639,863 (GRCm39) |
Y676F |
probably benign |
Het |
Skint1 |
G |
T |
4: 111,867,909 (GRCm39) |
C12F |
probably benign |
Het |
Slc22a26 |
T |
A |
19: 7,779,651 (GRCm39) |
D55V |
probably damaging |
Het |
Slc9a8 |
G |
A |
2: 167,266,211 (GRCm39) |
V63I |
probably damaging |
Het |
Sox2 |
T |
A |
3: 34,705,246 (GRCm39) |
S228T |
probably benign |
Het |
Spg11 |
A |
G |
2: 121,943,706 (GRCm39) |
S149P |
probably damaging |
Het |
Tbc1d19 |
T |
A |
5: 53,986,725 (GRCm39) |
S45T |
probably benign |
Het |
Tsacc |
T |
C |
3: 88,202,703 (GRCm39) |
E11G |
probably benign |
Het |
Ttc7b |
C |
T |
12: 100,461,666 (GRCm39) |
A104T |
possibly damaging |
Het |
Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
Zfp108 |
T |
A |
7: 23,960,782 (GRCm39) |
F458I |
probably damaging |
Het |
Zfp616 |
A |
T |
11: 73,976,018 (GRCm39) |
K762N |
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 |
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 |
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'- AATCCAGAATTGCCTTTTGCC -3'
(R):5'- TGACAGGAAGCTGGCATTAG -3'
Sequencing Primer
(F):5'- CCCTCAGGAAGTCCTAGATAGGTTTG -3'
(R):5'- CATTAGGGGGTCAGAAGCTTG -3'
|
Posted On |
2018-06-06 |