Incidental Mutation 'R2939:Spata31g1'
| ID |
264556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31g1
|
| Ensembl Gene |
ENSMUSG00000028451 |
| Gene Name |
SPATA31 subfamily G member 1 |
| Synonyms |
1700022I11Rik |
| MMRRC Submission |
040516-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R2939 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
42969946-42974325 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42972946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 760
(K760E)
|
| 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: K760E
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000030163
Gene: ENSMUSG00000028451
AA Change: K760E
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
98% (62/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
T |
C |
9: 107,808,409 (GRCm39) |
Y911H |
possibly damaging |
Het |
| Arhgef26 |
A |
C |
3: 62,288,331 (GRCm39) |
K467T |
possibly damaging |
Het |
| Armcx6 |
A |
T |
X: 133,650,625 (GRCm39) |
W69R |
probably damaging |
Het |
| Asl |
T |
C |
5: 130,042,245 (GRCm39) |
Y277C |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,406,011 (GRCm39) |
Y1219C |
probably damaging |
Het |
| Azin2 |
C |
T |
4: 128,828,397 (GRCm39) |
C270Y |
probably benign |
Het |
| Brsk1 |
A |
T |
7: 4,711,139 (GRCm39) |
I545F |
possibly damaging |
Het |
| Carm1 |
C |
A |
9: 21,490,692 (GRCm39) |
|
probably null |
Het |
| Cfap410 |
A |
G |
10: 77,817,507 (GRCm39) |
N78S |
probably benign |
Het |
| Cfap69 |
G |
A |
5: 5,694,432 (GRCm39) |
A143V |
probably damaging |
Het |
| Cldn14 |
T |
C |
16: 93,716,192 (GRCm39) |
K218R |
probably damaging |
Het |
| Col5a3 |
T |
C |
9: 20,706,954 (GRCm39) |
K714R |
unknown |
Het |
| Crybg2 |
A |
G |
4: 133,809,745 (GRCm39) |
H1517R |
possibly damaging |
Het |
| Dagla |
A |
C |
19: 10,233,728 (GRCm39) |
F382C |
probably damaging |
Het |
| Dixdc1 |
G |
A |
9: 50,622,259 (GRCm39) |
A25V |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,750,496 (GRCm39) |
F473L |
possibly damaging |
Het |
| Eif5 |
T |
C |
12: 111,506,713 (GRCm39) |
C102R |
probably damaging |
Het |
| Faiml |
A |
G |
9: 99,114,527 (GRCm39) |
C121R |
probably damaging |
Het |
| Fhdc1 |
A |
G |
3: 84,364,577 (GRCm39) |
V223A |
possibly damaging |
Het |
| Garin4 |
T |
C |
1: 190,896,103 (GRCm39) |
D180G |
possibly damaging |
Het |
| Gpatch8 |
A |
G |
11: 102,399,010 (GRCm39) |
V74A |
unknown |
Het |
| Haghl |
A |
G |
17: 26,004,060 (GRCm39) |
V8A |
possibly damaging |
Het |
| Ksr1 |
A |
G |
11: 78,936,007 (GRCm39) |
|
probably null |
Het |
| Lama5 |
A |
C |
2: 179,840,747 (GRCm39) |
Y584D |
probably damaging |
Het |
| Lgi4 |
C |
T |
7: 30,767,253 (GRCm39) |
R427* |
probably null |
Het |
| Lrriq1 |
T |
A |
10: 102,980,750 (GRCm39) |
S1462C |
probably damaging |
Het |
| Map3k4 |
C |
T |
17: 12,480,157 (GRCm39) |
E682K |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Nherf1 |
C |
T |
11: 115,071,270 (GRCm39) |
R335C |
probably damaging |
Het |
| Nmnat2 |
C |
A |
1: 152,950,474 (GRCm39) |
S53Y |
probably damaging |
Het |
| Or8b12i |
C |
A |
9: 20,082,061 (GRCm39) |
G269W |
probably benign |
Het |
| Or8g34 |
G |
A |
9: 39,373,226 (GRCm39) |
M166I |
probably benign |
Het |
| Pcsk7 |
C |
T |
9: 45,827,322 (GRCm39) |
A363V |
probably damaging |
Het |
| Pdrg1 |
C |
T |
2: 152,854,355 (GRCm39) |
G62R |
probably damaging |
Het |
| Pdzd7 |
A |
G |
19: 45,033,862 (GRCm39) |
I74T |
possibly damaging |
Het |
| Plcb4 |
T |
C |
2: 135,781,123 (GRCm39) |
|
probably benign |
Het |
| Pramel28 |
A |
G |
4: 143,693,247 (GRCm39) |
V77A |
probably benign |
Het |
| Rnf25 |
A |
G |
1: 74,635,047 (GRCm39) |
V135A |
possibly damaging |
Het |
| Rph3a |
A |
G |
5: 121,118,212 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Senp6 |
G |
A |
9: 80,051,124 (GRCm39) |
A1134T |
probably benign |
Het |
| Slc1a6 |
G |
T |
10: 78,650,448 (GRCm39) |
*562L |
probably null |
Het |
| Slc26a6 |
G |
A |
9: 108,734,236 (GRCm39) |
V206I |
probably benign |
Het |
| Slc45a3 |
A |
G |
1: 131,905,637 (GRCm39) |
E206G |
probably damaging |
Het |
| Smc1a |
T |
A |
X: 150,816,695 (GRCm39) |
Y516N |
probably damaging |
Het |
| Smpd3 |
A |
G |
8: 106,984,039 (GRCm39) |
V560A |
probably benign |
Het |
| Ssc4d |
T |
C |
5: 135,994,578 (GRCm39) |
T51A |
possibly damaging |
Het |
| Suco |
A |
G |
1: 161,676,220 (GRCm39) |
I386T |
probably damaging |
Het |
| Tecta |
A |
T |
9: 42,289,290 (GRCm39) |
M425K |
possibly damaging |
Het |
| Tmprss11e |
G |
A |
5: 86,869,266 (GRCm39) |
R96W |
probably damaging |
Het |
| Trim63 |
T |
C |
4: 134,050,308 (GRCm39) |
|
probably benign |
Het |
| Trpv1 |
A |
G |
11: 73,145,675 (GRCm39) |
K403R |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,524,982 (GRCm39) |
Y547C |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 102,957,684 (GRCm39) |
T33I |
probably damaging |
Het |
| Usp47 |
G |
A |
7: 111,681,743 (GRCm39) |
S518N |
probably damaging |
Het |
| Vmn2r22 |
T |
A |
6: 123,614,594 (GRCm39) |
D332V |
probably damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,385,832 (GRCm39) |
L716P |
probably damaging |
Het |
| Zfp558 |
T |
C |
9: 18,367,924 (GRCm39) |
N288S |
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 |
|
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'- AGCTCTTGTACAGCAACCCC -3'
(R):5'- AATGTGGCTCTTGTGACAGAG -3'
Sequencing Primer
(F):5'- CTTGTACAGCAACCCCTTAGAGTTAG -3'
(R):5'- TGGCTCTTGTGACAGAGCAGAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation