Incidental Mutation 'R0467:Spata31g1'
ID |
41682 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31g1
|
Ensembl Gene |
ENSMUSG00000028451 |
Gene Name |
SPATA31 subfamily G member 1 |
Synonyms |
1700022I11Rik |
MMRRC Submission |
038667-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R0467 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
42969946-42974325 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 42972715 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 683
(S683P)
|
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 benign
Transcript: ENSMUST00000030163
AA Change: S683P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000030163 Gene: ENSMUSG00000028451 AA Change: S683P
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.7%
- 20x: 93.3%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,532,151 (GRCm39) |
|
probably benign |
Het |
Anapc1 |
A |
G |
2: 128,510,963 (GRCm39) |
I511T |
probably damaging |
Het |
Atf6 |
A |
T |
1: 170,621,589 (GRCm39) |
H477Q |
probably damaging |
Het |
C4b |
A |
G |
17: 34,955,101 (GRCm39) |
V795A |
probably benign |
Het |
Cdh26 |
C |
T |
2: 178,123,425 (GRCm39) |
R675C |
possibly damaging |
Het |
Cdk12 |
T |
C |
11: 98,094,405 (GRCm39) |
V71A |
probably damaging |
Het |
Cul3 |
A |
T |
1: 80,258,580 (GRCm39) |
D419E |
probably benign |
Het |
Ddi2 |
A |
G |
4: 141,412,495 (GRCm39) |
I139T |
probably benign |
Het |
Dnaaf1 |
T |
A |
8: 120,317,471 (GRCm39) |
D333E |
probably benign |
Het |
Dnase1 |
A |
G |
16: 3,857,013 (GRCm39) |
D7G |
probably damaging |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Galc |
A |
C |
12: 98,208,904 (GRCm39) |
I250R |
probably damaging |
Het |
Garin1b |
G |
A |
6: 29,326,606 (GRCm39) |
S241N |
probably damaging |
Het |
Gcfc2 |
T |
C |
6: 81,900,863 (GRCm39) |
V59A |
possibly damaging |
Het |
Gm6133 |
A |
C |
18: 78,393,305 (GRCm39) |
S100R |
probably benign |
Het |
Iba57 |
T |
C |
11: 59,054,265 (GRCm39) |
T85A |
probably benign |
Het |
Ipo4 |
A |
T |
14: 55,872,983 (GRCm39) |
M1K |
probably null |
Het |
Ippk |
A |
G |
13: 49,584,341 (GRCm39) |
|
probably null |
Het |
Kcnk10 |
A |
T |
12: 98,456,204 (GRCm39) |
I209N |
probably benign |
Het |
Klk14 |
T |
C |
7: 43,343,534 (GRCm39) |
L122P |
probably benign |
Het |
Ltbp1 |
T |
A |
17: 75,589,424 (GRCm39) |
|
probably null |
Het |
Mab21l4 |
A |
T |
1: 93,080,766 (GRCm39) |
I380N |
probably damaging |
Het |
Mcm3 |
T |
C |
1: 20,875,071 (GRCm39) |
D737G |
probably benign |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Nalcn |
T |
A |
14: 123,528,459 (GRCm39) |
T1456S |
probably benign |
Het |
Nckap1l |
C |
T |
15: 103,405,854 (GRCm39) |
P1097S |
probably benign |
Het |
Ncoa1 |
A |
G |
12: 4,317,687 (GRCm39) |
M1215T |
possibly damaging |
Het |
Nomo1 |
T |
A |
7: 45,721,911 (GRCm39) |
|
probably null |
Het |
Obox5 |
T |
A |
7: 15,491,932 (GRCm39) |
C116S |
possibly damaging |
Het |
Or2ag2b |
T |
A |
7: 106,417,568 (GRCm39) |
S93T |
possibly damaging |
Het |
Or51a43 |
C |
T |
7: 103,717,332 (GRCm39) |
R302H |
probably benign |
Het |
Or5a1 |
C |
A |
19: 12,097,900 (GRCm39) |
A59S |
probably benign |
Het |
Pcdhb14 |
G |
T |
18: 37,582,277 (GRCm39) |
R461L |
probably damaging |
Het |
Pdgfra |
A |
G |
5: 75,355,697 (GRCm39) |
D1069G |
probably damaging |
Het |
Pgr |
C |
T |
9: 8,900,779 (GRCm39) |
A104V |
possibly damaging |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Potegl |
A |
G |
2: 23,102,832 (GRCm39) |
E190G |
possibly damaging |
Het |
Rassf3 |
A |
G |
10: 121,253,109 (GRCm39) |
|
probably benign |
Het |
Rgs22 |
G |
T |
15: 36,099,941 (GRCm39) |
S258* |
probably null |
Het |
Rsph6a |
C |
A |
7: 18,791,594 (GRCm39) |
D254E |
possibly damaging |
Het |
Sgk1 |
A |
G |
10: 21,872,257 (GRCm39) |
|
probably benign |
Het |
Shcbp1l |
G |
A |
1: 153,308,928 (GRCm39) |
C174Y |
probably damaging |
Het |
Sulf1 |
T |
A |
1: 12,867,144 (GRCm39) |
N109K |
probably damaging |
Het |
Taf7l2 |
G |
A |
10: 115,949,058 (GRCm39) |
A156V |
probably benign |
Het |
Tas2r115 |
T |
A |
6: 132,714,682 (GRCm39) |
I90L |
probably benign |
Het |
Tmem200a |
T |
C |
10: 25,870,002 (GRCm39) |
H89R |
probably benign |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Xrn1 |
T |
C |
9: 95,906,244 (GRCm39) |
S1212P |
probably damaging |
Het |
Zfp408 |
T |
C |
2: 91,475,882 (GRCm39) |
Y424C |
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 |
|
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 |
|
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'- TCTGAGGCTCAACTGAAGGGTACAC -3'
(R):5'- CCAGCAGGCTCAACGTCAGATAAG -3'
Sequencing Primer
(F):5'- CTGCCAGACTTTGCAATAATGGG -3'
(R):5'- CGTCAGATAAGACTCCTTCGG -3'
|
Posted On |
2013-05-23 |