Incidental Mutation 'R0906:AA986860'
| ID |
83310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AA986860
|
| Ensembl Gene |
ENSMUSG00000042510 |
| Gene Name |
expressed sequence AA986860 |
| Synonyms |
|
| MMRRC Submission |
039064-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R0906 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
130659713-130672359 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 130665430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039323]
|
| AlphaFold |
Q8BI29 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039323
|
| SMART Domains |
Protein: ENSMUSP00000046172
Gene: ENSMUSG00000042510
| 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: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.3%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp7b |
T |
C |
8: 22,517,842 (GRCm39) |
H332R |
probably benign |
Het |
| Bace2 |
C |
T |
16: 97,158,141 (GRCm39) |
P47L |
possibly damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,499,315 (GRCm39) |
M1V |
probably null |
Het |
| Dcbld2 |
A |
G |
16: 58,275,610 (GRCm39) |
E442G |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,642,308 (GRCm39) |
T660A |
probably damaging |
Het |
| Gm4945 |
A |
C |
17: 47,353,796 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6729 |
T |
C |
10: 86,376,456 (GRCm39) |
|
noncoding transcript |
Het |
| Golga1 |
G |
A |
2: 38,937,655 (GRCm39) |
R204W |
probably damaging |
Het |
| Guf1 |
T |
C |
5: 69,723,729 (GRCm39) |
I348T |
probably damaging |
Het |
| Htra4 |
T |
A |
8: 25,527,160 (GRCm39) |
I212L |
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,253,999 (GRCm39) |
R750Q |
probably benign |
Het |
| Lgalsl2 |
T |
C |
7: 5,362,828 (GRCm39) |
I153T |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Nsd1 |
T |
C |
13: 55,425,403 (GRCm39) |
V1520A |
probably benign |
Het |
| Nuak1 |
C |
T |
10: 84,211,144 (GRCm39) |
V315I |
probably damaging |
Het |
| Nup205 |
G |
T |
6: 35,213,827 (GRCm39) |
G1740C |
probably damaging |
Het |
| Or1r1 |
G |
C |
11: 73,874,685 (GRCm39) |
L250V |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,726,700 (GRCm39) |
|
probably benign |
Het |
| Pik3r6 |
T |
C |
11: 68,426,927 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,292,556 (GRCm39) |
F1336I |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,345,291 (GRCm39) |
I355T |
possibly damaging |
Het |
| Rgs22 |
A |
T |
15: 36,104,048 (GRCm39) |
|
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,677,924 (GRCm39) |
M312K |
probably damaging |
Het |
| Slc2a5 |
T |
C |
4: 150,227,287 (GRCm39) |
I401T |
probably benign |
Het |
| Slc9a8 |
G |
T |
2: 167,276,787 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,867,206 (GRCm39) |
E1718G |
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,179,268 (GRCm39) |
I640N |
probably damaging |
Het |
| Tmem217 |
A |
G |
17: 29,745,490 (GRCm39) |
L80P |
probably damaging |
Het |
| Topbp1 |
C |
T |
9: 103,205,792 (GRCm39) |
P810L |
probably benign |
Het |
| Ttbk2 |
G |
A |
2: 120,614,262 (GRCm39) |
R151C |
probably damaging |
Het |
| Vmn2r88 |
T |
G |
14: 51,655,666 (GRCm39) |
L626R |
probably damaging |
Het |
|
| Other mutations in AA986860 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:AA986860
|
APN |
1 |
130,670,573 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01761:AA986860
|
APN |
1 |
130,670,459 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02557:AA986860
|
APN |
1 |
130,670,444 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03003:AA986860
|
APN |
1 |
130,671,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02802:AA986860
|
UTSW |
1 |
130,671,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0326:AA986860
|
UTSW |
1 |
130,670,635 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0483:AA986860
|
UTSW |
1 |
130,671,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0932:AA986860
|
UTSW |
1 |
130,665,430 (GRCm39) |
splice site |
probably null |
|
|
R1522:AA986860
|
UTSW |
1 |
130,670,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:AA986860
|
UTSW |
1 |
130,665,425 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1874:AA986860
|
UTSW |
1 |
130,670,428 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2083:AA986860
|
UTSW |
1 |
130,668,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:AA986860
|
UTSW |
1 |
130,670,906 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2093:AA986860
|
UTSW |
1 |
130,671,041 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3546:AA986860
|
UTSW |
1 |
130,668,926 (GRCm39) |
splice site |
probably benign |
|
|
R3915:AA986860
|
UTSW |
1 |
130,670,344 (GRCm39) |
missense |
probably benign |
|
|
R4679:AA986860
|
UTSW |
1 |
130,670,140 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4703:AA986860
|
UTSW |
1 |
130,671,092 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4890:AA986860
|
UTSW |
1 |
130,668,725 (GRCm39) |
splice site |
probably benign |
|
|
R4988:AA986860
|
UTSW |
1 |
130,670,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5171:AA986860
|
UTSW |
1 |
130,670,584 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5327:AA986860
|
UTSW |
1 |
130,668,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5424:AA986860
|
UTSW |
1 |
130,670,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5763:AA986860
|
UTSW |
1 |
130,670,768 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5799:AA986860
|
UTSW |
1 |
130,668,908 (GRCm39) |
nonsense |
probably null |
|
|
R6247:AA986860
|
UTSW |
1 |
130,670,780 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7124:AA986860
|
UTSW |
1 |
130,670,624 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7747:AA986860
|
UTSW |
1 |
130,671,284 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
Z1176:AA986860
|
UTSW |
1 |
130,670,728 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCAGAAGCCTCAGCTCACAC -3'
(R):5'- TGTCCCACCCAGTTCTCTACAGAAG -3'
Sequencing Primer
(F):5'- GCCCAGCTTGGGACATTC -3'
(R):5'- TCTCTACAGAAGCAGATGTGACTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation