Incidental Mutation 'R3915:AA986860'
| ID |
309579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AA986860
|
| Ensembl Gene |
ENSMUSG00000042510 |
| Gene Name |
expressed sequence AA986860 |
| Synonyms |
|
| MMRRC Submission |
040913-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R3915 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
130731976-130744622 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130742607 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 189
(K189E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039323]
|
| AlphaFold |
Q8BI29 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039323
AA Change: K189E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046172
Gene: ENSMUSG00000042510
AA Change: K189E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SARG
|
33 |
606 |
1e-235 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186185
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188068
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190859
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
G |
A |
5: 3,577,248 (GRCm38) |
V75I |
possibly damaging |
Het |
| Abcf1 |
C |
T |
17: 35,959,510 (GRCm38) |
R596H |
possibly damaging |
Het |
| Axl |
T |
C |
7: 25,760,744 (GRCm38) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,579,608 (GRCm38) |
K644E |
probably benign |
Het |
| Btbd11 |
C |
A |
10: 85,632,270 (GRCm38) |
H810N |
probably damaging |
Het |
| Btnl7-ps |
T |
A |
17: 34,541,515 (GRCm38) |
|
noncoding transcript |
Het |
| Car8 |
A |
T |
4: 8,184,576 (GRCm38) |
|
probably benign |
Het |
| Ccdc62 |
C |
T |
5: 123,954,715 (GRCm38) |
R588C |
probably damaging |
Het |
| Clasp2 |
T |
G |
9: 113,908,737 (GRCm38) |
S374A |
probably damaging |
Het |
| Ctnnb1 |
A |
G |
9: 120,955,651 (GRCm38) |
H503R |
probably benign |
Het |
| Cwf19l2 |
A |
G |
9: 3,456,776 (GRCm38) |
H703R |
probably damaging |
Het |
| Efcab7 |
A |
T |
4: 99,878,173 (GRCm38) |
Q133L |
probably damaging |
Het |
| Ehmt2 |
T |
C |
17: 34,903,467 (GRCm38) |
S280P |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,481,273 (GRCm38) |
M351V |
probably benign |
Het |
| Ets2 |
G |
A |
16: 95,718,993 (GRCm38) |
R421H |
probably damaging |
Het |
| Fam222b |
C |
G |
11: 78,154,930 (GRCm38) |
P439R |
probably benign |
Het |
| Gbp11 |
T |
A |
5: 105,331,112 (GRCm38) |
K153N |
probably damaging |
Het |
| Gm8989 |
A |
G |
7: 106,330,238 (GRCm38) |
S151P |
probably benign |
Het |
| Gm8994 |
A |
T |
6: 136,329,422 (GRCm38) |
T294S |
probably benign |
Het |
| Golim4 |
T |
C |
3: 75,903,327 (GRCm38) |
T174A |
probably damaging |
Het |
| Grid1 |
A |
G |
14: 35,520,727 (GRCm38) |
Y679C |
probably damaging |
Het |
| Ikzf3 |
T |
C |
11: 98,490,586 (GRCm38) |
D56G |
probably damaging |
Het |
| Kcnj16 |
A |
G |
11: 111,025,556 (GRCm38) |
D348G |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,053,958 (GRCm38) |
L1319P |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 41,449,236 (GRCm38) |
D751V |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,446,816 (GRCm38) |
C440R |
probably benign |
Het |
| Mbd2 |
T |
C |
18: 70,622,609 (GRCm38) |
V382A |
probably benign |
Het |
| Olfr45 |
T |
A |
7: 140,690,975 (GRCm38) |
D23E |
probably benign |
Het |
| Olfr559 |
C |
T |
7: 102,724,202 (GRCm38) |
R96H |
possibly damaging |
Het |
| Olfr780 |
G |
A |
10: 129,322,309 (GRCm38) |
A229T |
probably benign |
Het |
| Pgs1 |
T |
G |
11: 118,019,646 (GRCm38) |
S528A |
probably benign |
Het |
| Pitpnm3 |
T |
C |
11: 72,112,284 (GRCm38) |
T67A |
probably damaging |
Het |
| Pnliprp2 |
T |
G |
19: 58,760,362 (GRCm38) |
V33G |
probably damaging |
Het |
| Ptn |
T |
C |
6: 36,743,347 (GRCm38) |
N90S |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,555,555 (GRCm38) |
|
probably benign |
Het |
| Ranbp17 |
G |
A |
11: 33,479,189 (GRCm38) |
A352V |
probably benign |
Het |
| Rasgrp1 |
G |
A |
2: 117,288,641 (GRCm38) |
S505F |
probably damaging |
Het |
| Sesn1 |
G |
A |
10: 41,894,890 (GRCm38) |
R139H |
probably benign |
Het |
| Slc17a7 |
T |
A |
7: 45,168,720 (GRCm38) |
L23Q |
probably damaging |
Het |
| Slc30a10 |
G |
T |
1: 185,455,136 (GRCm38) |
E25* |
probably null |
Het |
| Smco1 |
A |
G |
16: 32,273,765 (GRCm38) |
I85V |
probably benign |
Het |
| Vmn1r76 |
A |
T |
7: 11,930,569 (GRCm38) |
S239R |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 11,156,210 (GRCm38) |
V237D |
possibly damaging |
Het |
|
| Other mutations in AA986860 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:AA986860
|
APN |
1 |
130,742,836 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
IGL01761:AA986860
|
APN |
1 |
130,742,722 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL02557:AA986860
|
APN |
1 |
130,742,707 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL03003:AA986860
|
APN |
1 |
130,743,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02802:AA986860
|
UTSW |
1 |
130,743,393 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0326:AA986860
|
UTSW |
1 |
130,742,898 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R0483:AA986860
|
UTSW |
1 |
130,743,825 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0906:AA986860
|
UTSW |
1 |
130,737,693 (GRCm38) |
splice site |
probably benign |
|
|
R0932:AA986860
|
UTSW |
1 |
130,737,693 (GRCm38) |
splice site |
probably null |
|
|
R1522:AA986860
|
UTSW |
1 |
130,743,094 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1762:AA986860
|
UTSW |
1 |
130,737,688 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1874:AA986860
|
UTSW |
1 |
130,742,691 (GRCm38) |
missense |
probably benign |
0.06 |
|
R2083:AA986860
|
UTSW |
1 |
130,741,069 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2091:AA986860
|
UTSW |
1 |
130,743,169 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2093:AA986860
|
UTSW |
1 |
130,743,304 (GRCm38) |
missense |
probably benign |
0.13 |
|
R3546:AA986860
|
UTSW |
1 |
130,741,189 (GRCm38) |
splice site |
probably benign |
|
|
R4679:AA986860
|
UTSW |
1 |
130,742,403 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R4703:AA986860
|
UTSW |
1 |
130,743,355 (GRCm38) |
missense |
probably benign |
0.19 |
|
R4890:AA986860
|
UTSW |
1 |
130,740,988 (GRCm38) |
splice site |
probably benign |
|
|
R4988:AA986860
|
UTSW |
1 |
130,742,710 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5171:AA986860
|
UTSW |
1 |
130,742,847 (GRCm38) |
missense |
probably benign |
0.23 |
|
R5327:AA986860
|
UTSW |
1 |
130,741,003 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5424:AA986860
|
UTSW |
1 |
130,742,941 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5763:AA986860
|
UTSW |
1 |
130,743,031 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R5799:AA986860
|
UTSW |
1 |
130,741,171 (GRCm38) |
nonsense |
probably null |
|
|
R6247:AA986860
|
UTSW |
1 |
130,743,043 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R7124:AA986860
|
UTSW |
1 |
130,742,887 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R7747:AA986860
|
UTSW |
1 |
130,743,547 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
Z1176:AA986860
|
UTSW |
1 |
130,742,991 (GRCm38) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCTCCTGAGTCTCACAG -3'
(R):5'- ATGGGATACGGTTTCAGAAGAC -3'
Sequencing Primer
(F):5'- TCTCAGGGCTGGTTCCTACAG -3'
(R):5'- GGGATACGGTTTCAGAAGACATTTCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation