Incidental Mutation 'IGL02339:Gm4952'
| ID |
288991 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm4952
|
| Ensembl Gene |
ENSMUSG00000071633 |
| Gene Name |
predicted gene 4952 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL02339
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
12577348-12604980 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 12604275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 229
(R229Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092931]
[ENSMUST00000181868]
|
| AlphaFold |
Q5FW57 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092931
AA Change: R229Q
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090607
Gene: ENSMUSG00000071633
AA Change: R229Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gly_acyl_tr_N
|
1 |
206 |
2.6e-90 |
PFAM |
|
Pfam:Gly_acyl_tr_C
|
207 |
295 |
2.7e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181868
|
| SMART Domains |
Protein: ENSMUSP00000137934
Gene: ENSMUSG00000071633
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gly_acyl_tr_N
|
1 |
206 |
3.7e-112 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
C |
A |
6: 23,093,965 (GRCm39) |
V119F |
probably damaging |
Het |
| Abcg5 |
T |
C |
17: 84,981,032 (GRCm39) |
I186V |
possibly damaging |
Het |
| B4gat1 |
G |
A |
19: 5,089,446 (GRCm39) |
E148K |
probably benign |
Het |
| Ccr6 |
A |
T |
17: 8,475,085 (GRCm39) |
T97S |
probably benign |
Het |
| Cd209f |
A |
C |
8: 4,154,483 (GRCm39) |
|
probably null |
Het |
| Chst1 |
T |
A |
2: 92,443,922 (GRCm39) |
D131E |
possibly damaging |
Het |
| Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
| Dnaaf9 |
A |
G |
2: 130,581,385 (GRCm39) |
S546P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,078,881 (GRCm39) |
Y2361H |
probably benign |
Het |
| Dpp6 |
C |
T |
5: 27,857,228 (GRCm39) |
T333I |
probably damaging |
Het |
| Glt8d1 |
C |
A |
14: 30,730,767 (GRCm39) |
T91K |
probably damaging |
Het |
| Gm5117 |
T |
C |
8: 32,228,254 (GRCm39) |
|
noncoding transcript |
Het |
| Gp5 |
T |
C |
16: 30,128,008 (GRCm39) |
E222G |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,771,470 (GRCm39) |
D1077E |
probably benign |
Het |
| Hfe |
T |
C |
13: 23,888,373 (GRCm39) |
E171G |
probably damaging |
Het |
| Hsp90b1 |
A |
G |
10: 86,537,678 (GRCm39) |
V209A |
probably damaging |
Het |
| Ktn1 |
A |
T |
14: 47,920,835 (GRCm39) |
|
probably benign |
Het |
| Med13 |
T |
C |
11: 86,179,765 (GRCm39) |
I1394M |
probably benign |
Het |
| Meioc |
T |
G |
11: 102,559,274 (GRCm39) |
S65R |
probably benign |
Het |
| Myof |
T |
C |
19: 37,960,661 (GRCm39) |
Y460C |
possibly damaging |
Het |
| Or4f53 |
A |
T |
2: 111,087,588 (GRCm39) |
T43S |
probably benign |
Het |
| Pms1 |
A |
G |
1: 53,314,324 (GRCm39) |
Y74H |
possibly damaging |
Het |
| Ptprn2 |
A |
C |
12: 116,685,724 (GRCm39) |
Q61P |
probably damaging |
Het |
| Rab29 |
A |
G |
1: 131,799,880 (GRCm39) |
T152A |
probably benign |
Het |
| Rest |
A |
G |
5: 77,423,135 (GRCm39) |
H313R |
probably damaging |
Het |
| Slc9a5 |
T |
C |
8: 106,085,091 (GRCm39) |
Y531H |
probably damaging |
Het |
| St3gal3 |
T |
C |
4: 117,815,759 (GRCm39) |
T148A |
probably damaging |
Het |
| Stxbp5 |
C |
T |
10: 9,692,041 (GRCm39) |
V368I |
possibly damaging |
Het |
| Taf1c |
T |
C |
8: 120,331,019 (GRCm39) |
D33G |
probably damaging |
Het |
| Trim38 |
G |
A |
13: 23,972,213 (GRCm39) |
R178Q |
probably damaging |
Het |
| Uvssa |
A |
T |
5: 33,572,193 (GRCm39) |
K704N |
probably damaging |
Het |
| Vmn1r69 |
G |
A |
7: 10,314,645 (GRCm39) |
Q29* |
probably null |
Het |
| Ypel2 |
T |
C |
11: 86,831,429 (GRCm39) |
D119G |
possibly damaging |
Het |
|
| Other mutations in Gm4952 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Gm4952
|
APN |
19 |
12,595,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Gm4952
|
APN |
19 |
12,600,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01542:Gm4952
|
APN |
19 |
12,595,771 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01714:Gm4952
|
APN |
19 |
12,602,075 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03068:Gm4952
|
APN |
19 |
12,601,068 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03100:Gm4952
|
APN |
19 |
12,602,083 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03274:Gm4952
|
APN |
19 |
12,600,960 (GRCm39) |
splice site |
probably benign |
|
|
IGL03295:Gm4952
|
APN |
19 |
12,595,691 (GRCm39) |
missense |
probably benign |
0.39 |
|
PIT4520001:Gm4952
|
UTSW |
19 |
12,602,048 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0604:Gm4952
|
UTSW |
19 |
12,602,036 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1221:Gm4952
|
UTSW |
19 |
12,601,059 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1513:Gm4952
|
UTSW |
19 |
12,602,039 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1514:Gm4952
|
UTSW |
19 |
12,604,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1804:Gm4952
|
UTSW |
19 |
12,595,784 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1928:Gm4952
|
UTSW |
19 |
12,600,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2447:Gm4952
|
UTSW |
19 |
12,595,770 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4930:Gm4952
|
UTSW |
19 |
12,604,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5360:Gm4952
|
UTSW |
19 |
12,600,993 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5704:Gm4952
|
UTSW |
19 |
12,604,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7143:Gm4952
|
UTSW |
19 |
12,595,771 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7332:Gm4952
|
UTSW |
19 |
12,604,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7420:Gm4952
|
UTSW |
19 |
12,604,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7702:Gm4952
|
UTSW |
19 |
12,604,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9573:Gm4952
|
UTSW |
19 |
12,604,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation