Incidental Mutation 'IGL00432:AA986860'
| ID |
7380 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
AA986860
|
| Ensembl Gene |
ENSMUSG00000042510 |
| Gene Name |
expressed sequence AA986860 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL00432
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
130659713-130672359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130670573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 265
(Q265L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039323]
|
| AlphaFold |
Q8BI29 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039323
AA Change: Q265L
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000046172
Gene: ENSMUSG00000042510
AA Change: Q265L
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c18 |
T |
A |
13: 4,187,232 (GRCm39) |
H168L |
probably damaging |
Het |
| Arid3b |
A |
G |
9: 57,741,207 (GRCm39) |
S80P |
possibly damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Brd1 |
A |
C |
15: 88,614,361 (GRCm39) |
V178G |
probably benign |
Het |
| Brd2 |
C |
T |
17: 34,333,397 (GRCm39) |
R26Q |
probably damaging |
Het |
| Ddr2 |
T |
C |
1: 169,825,527 (GRCm39) |
M358V |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,642,201 (GRCm39) |
D41G |
probably damaging |
Het |
| Erap1 |
T |
G |
13: 74,821,778 (GRCm39) |
V711G |
probably benign |
Het |
| Gchfr |
A |
G |
2: 119,000,229 (GRCm39) |
R37G |
probably damaging |
Het |
| Gm20518 |
T |
A |
16: 17,676,362 (GRCm39) |
N136I |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,754,124 (GRCm39) |
|
probably benign |
Het |
| Hydin |
T |
A |
8: 111,327,884 (GRCm39) |
V4797E |
probably damaging |
Het |
| Iws1 |
C |
A |
18: 32,217,741 (GRCm39) |
N448K |
probably benign |
Het |
| Lin7c |
T |
C |
2: 109,726,798 (GRCm39) |
|
probably benign |
Het |
| Lrrc40 |
T |
A |
3: 157,754,087 (GRCm39) |
L196Q |
probably damaging |
Het |
| Lrrtm2 |
C |
T |
18: 35,346,321 (GRCm39) |
G327D |
probably benign |
Het |
| Masp1 |
C |
T |
16: 23,332,601 (GRCm39) |
C78Y |
probably damaging |
Het |
| Mmd |
C |
T |
11: 90,155,360 (GRCm39) |
R101W |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,492,566 (GRCm39) |
Y730H |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,126,914 (GRCm39) |
|
probably benign |
Het |
| Pglyrp4 |
G |
A |
3: 90,646,335 (GRCm39) |
V290M |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,326,404 (GRCm39) |
V113I |
probably benign |
Het |
| Prkch |
T |
A |
12: 73,749,363 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
G |
T |
5: 130,237,565 (GRCm39) |
E213* |
probably null |
Het |
| Rdh16f2 |
T |
A |
10: 127,702,533 (GRCm39) |
C37S |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,215,125 (GRCm39) |
Y1109H |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,572,326 (GRCm39) |
L215* |
probably null |
Het |
| Slc25a33 |
A |
T |
4: 149,829,376 (GRCm39) |
L261H |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,717,225 (GRCm39) |
|
probably null |
Het |
| Slc38a6 |
T |
C |
12: 73,398,577 (GRCm39) |
I369T |
probably benign |
Het |
| Tgm4 |
A |
T |
9: 122,891,447 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
G |
1: 159,688,815 (GRCm39) |
I426V |
probably benign |
Het |
| Vmn1r216 |
A |
G |
13: 23,283,574 (GRCm39) |
I86V |
probably benign |
Het |
| Wwc1 |
G |
A |
11: 35,735,029 (GRCm39) |
P949S |
possibly damaging |
Het |
| Zfp326 |
A |
T |
5: 106,044,399 (GRCm39) |
I286F |
probably damaging |
Het |
|
| Other mutations in AA986860 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R0906:AA986860
|
UTSW |
1 |
130,665,430 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation