Incidental Mutation 'IGL01810:Gm4922'
ID |
155798 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm4922
|
Ensembl Gene |
ENSMUSG00000044624 |
Gene Name |
predicted gene 4922 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01810
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
18655475-18662541 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18659795 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 309
(Q309R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149756
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055107]
[ENSMUST00000216654]
|
AlphaFold |
Q8C0N0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055107
AA Change: Q309R
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000055273 Gene: ENSMUSG00000044624 AA Change: Q309R
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
S_TKc
|
28 |
275 |
1.92e-75 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215162
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216654
AA Change: Q309R
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aarsd1 |
G |
T |
11: 101,308,185 (GRCm39) |
Y10* |
probably null |
Het |
Aass |
C |
A |
6: 23,107,633 (GRCm39) |
Q383H |
probably damaging |
Het |
Bag1 |
T |
C |
4: 40,936,657 (GRCm39) |
D333G |
probably damaging |
Het |
Cap2 |
A |
G |
13: 46,793,425 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
G |
T |
4: 63,143,868 (GRCm39) |
A519S |
probably benign |
Het |
Cr2 |
A |
G |
1: 194,841,903 (GRCm39) |
V726A |
possibly damaging |
Het |
Csmd2 |
A |
G |
4: 128,374,638 (GRCm39) |
|
probably benign |
Het |
Dennd4c |
A |
G |
4: 86,717,788 (GRCm39) |
D595G |
possibly damaging |
Het |
Ercc2 |
G |
T |
7: 19,127,374 (GRCm39) |
R340L |
probably damaging |
Het |
Espl1 |
A |
G |
15: 102,206,640 (GRCm39) |
T35A |
probably benign |
Het |
Fndc3a |
A |
G |
14: 72,803,581 (GRCm39) |
Y525H |
probably benign |
Het |
Gm5263 |
T |
C |
1: 146,296,292 (GRCm39) |
|
noncoding transcript |
Het |
Gm6563 |
A |
C |
19: 23,653,751 (GRCm39) |
R180S |
probably damaging |
Het |
Gpr182 |
C |
A |
10: 127,586,733 (GRCm39) |
V73F |
probably damaging |
Het |
Gramd1b |
C |
T |
9: 40,227,069 (GRCm39) |
R179H |
probably damaging |
Het |
Hk1 |
C |
T |
10: 62,188,884 (GRCm39) |
A10T |
probably benign |
Het |
Hmgn3 |
C |
A |
9: 82,992,437 (GRCm39) |
|
probably benign |
Het |
Il1b |
C |
T |
2: 129,211,649 (GRCm39) |
E24K |
probably damaging |
Het |
Itgb6 |
G |
T |
2: 60,458,329 (GRCm39) |
Q475K |
probably benign |
Het |
Lrrc74b |
A |
G |
16: 17,363,422 (GRCm39) |
S368P |
probably benign |
Het |
Mfsd2b |
T |
C |
12: 4,916,469 (GRCm39) |
T234A |
possibly damaging |
Het |
Muc6 |
A |
T |
7: 141,237,327 (GRCm39) |
Y270N |
probably damaging |
Het |
Naip6 |
A |
G |
13: 100,424,603 (GRCm39) |
|
probably benign |
Het |
Or4b13 |
A |
T |
2: 90,082,476 (GRCm39) |
Y285* |
probably null |
Het |
Pear1 |
G |
A |
3: 87,659,608 (GRCm39) |
T742I |
probably damaging |
Het |
Peli2 |
G |
A |
14: 48,493,491 (GRCm39) |
V238I |
probably benign |
Het |
Pira2 |
A |
G |
7: 3,847,611 (GRCm39) |
L26P |
probably damaging |
Het |
Pot1b |
A |
G |
17: 55,969,521 (GRCm39) |
V549A |
possibly damaging |
Het |
Prdm16 |
T |
C |
4: 154,432,384 (GRCm39) |
Y295C |
probably benign |
Het |
Ptprd |
A |
T |
4: 76,058,744 (GRCm39) |
|
probably benign |
Het |
Rap1gap |
A |
T |
4: 137,443,466 (GRCm39) |
M145L |
probably benign |
Het |
Setd7 |
A |
T |
3: 51,440,388 (GRCm39) |
|
probably benign |
Het |
Ssx2ip |
T |
C |
3: 146,133,765 (GRCm39) |
I258T |
probably benign |
Het |
Stard9 |
T |
C |
2: 120,529,565 (GRCm39) |
Y1941H |
possibly damaging |
Het |
Stxbp3 |
T |
C |
3: 108,707,468 (GRCm39) |
E420G |
probably benign |
Het |
Tpra1 |
T |
C |
6: 88,886,324 (GRCm39) |
V101A |
probably damaging |
Het |
Tpx2 |
G |
T |
2: 152,726,155 (GRCm39) |
Q373H |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,557,352 (GRCm39) |
R29914Q |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,833,809 (GRCm39) |
|
probably null |
Het |
Usp18 |
G |
A |
6: 121,230,730 (GRCm39) |
G53D |
probably damaging |
Het |
Vps13c |
A |
T |
9: 67,863,062 (GRCm39) |
H3026L |
probably benign |
Het |
Zan |
T |
C |
5: 137,461,888 (GRCm39) |
E1097G |
unknown |
Het |
|
Other mutations in Gm4922 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01818:Gm4922
|
APN |
10 |
18,660,701 (GRCm39) |
missense |
unknown |
|
IGL01931:Gm4922
|
APN |
10 |
18,660,042 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02021:Gm4922
|
APN |
10 |
18,660,225 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02573:Gm4922
|
APN |
10 |
18,659,423 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03305:Gm4922
|
APN |
10 |
18,659,232 (GRCm39) |
nonsense |
probably null |
|
R0149:Gm4922
|
UTSW |
10 |
18,659,289 (GRCm39) |
missense |
probably benign |
0.10 |
R0361:Gm4922
|
UTSW |
10 |
18,659,289 (GRCm39) |
missense |
probably benign |
0.10 |
R0564:Gm4922
|
UTSW |
10 |
18,659,813 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1079:Gm4922
|
UTSW |
10 |
18,660,086 (GRCm39) |
missense |
probably damaging |
0.97 |
R1163:Gm4922
|
UTSW |
10 |
18,659,469 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1164:Gm4922
|
UTSW |
10 |
18,659,469 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1398:Gm4922
|
UTSW |
10 |
18,659,496 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1458:Gm4922
|
UTSW |
10 |
18,659,640 (GRCm39) |
nonsense |
probably null |
|
R1867:Gm4922
|
UTSW |
10 |
18,660,211 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1994:Gm4922
|
UTSW |
10 |
18,659,388 (GRCm39) |
missense |
probably benign |
0.10 |
R2146:Gm4922
|
UTSW |
10 |
18,659,264 (GRCm39) |
missense |
probably benign |
|
R2437:Gm4922
|
UTSW |
10 |
18,659,829 (GRCm39) |
missense |
probably benign |
0.00 |
R3551:Gm4922
|
UTSW |
10 |
18,660,244 (GRCm39) |
missense |
probably benign |
0.01 |
R3939:Gm4922
|
UTSW |
10 |
18,660,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R4580:Gm4922
|
UTSW |
10 |
18,659,432 (GRCm39) |
missense |
probably benign |
0.00 |
R4602:Gm4922
|
UTSW |
10 |
18,660,007 (GRCm39) |
nonsense |
probably null |
|
R4704:Gm4922
|
UTSW |
10 |
18,660,567 (GRCm39) |
missense |
probably benign |
0.20 |
R4790:Gm4922
|
UTSW |
10 |
18,659,916 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5478:Gm4922
|
UTSW |
10 |
18,659,885 (GRCm39) |
missense |
probably benign |
|
R5510:Gm4922
|
UTSW |
10 |
18,659,745 (GRCm39) |
missense |
probably benign |
0.00 |
R5694:Gm4922
|
UTSW |
10 |
18,660,035 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6080:Gm4922
|
UTSW |
10 |
18,660,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R6869:Gm4922
|
UTSW |
10 |
18,660,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R6923:Gm4922
|
UTSW |
10 |
18,659,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R7667:Gm4922
|
UTSW |
10 |
18,660,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R8198:Gm4922
|
UTSW |
10 |
18,659,340 (GRCm39) |
missense |
probably benign |
0.00 |
R8270:Gm4922
|
UTSW |
10 |
18,659,760 (GRCm39) |
missense |
probably benign |
0.00 |
R8310:Gm4922
|
UTSW |
10 |
18,659,536 (GRCm39) |
missense |
probably benign |
0.09 |
R9454:Gm4922
|
UTSW |
10 |
18,660,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |