Incidental Mutation 'IGL01328:Gm14496'
ID |
74359 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm14496
|
Ensembl Gene |
ENSMUSG00000098505 |
Gene Name |
predicted gene 14496 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01328
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
181633019-181642880 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 181637673 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 249
(Y249C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071760]
|
AlphaFold |
K7N5U4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071760
AA Change: Y249C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000071670 Gene: ENSMUSG00000098505 AA Change: Y249C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
76 |
456 |
1.3e-30 |
PFAM |
Pfam:NCD3G
|
508 |
562 |
1.9e-18 |
PFAM |
Pfam:7tm_3
|
595 |
830 |
7.9e-55 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000089788
|
SMART Domains |
Protein: ENSMUSP00000087221 Gene: ENSMUSG00000053277
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
76 |
425 |
2.8e-29 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184507
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
C |
T |
18: 59,181,954 (GRCm39) |
S1131F |
possibly damaging |
Het |
Alg14 |
G |
A |
3: 121,155,232 (GRCm39) |
V151I |
probably benign |
Het |
Ano5 |
G |
A |
7: 51,206,019 (GRCm39) |
|
probably null |
Het |
Arhgef28 |
A |
T |
13: 98,106,831 (GRCm39) |
C698S |
probably damaging |
Het |
Cacnb4 |
T |
C |
2: 52,354,637 (GRCm39) |
H247R |
probably damaging |
Het |
Clec12b |
A |
T |
6: 129,356,517 (GRCm39) |
W216R |
probably damaging |
Het |
Clnk |
C |
T |
5: 38,941,871 (GRCm39) |
S35N |
possibly damaging |
Het |
Cnot4 |
T |
A |
6: 35,055,049 (GRCm39) |
N80I |
probably damaging |
Het |
Cntn5 |
C |
T |
9: 9,781,773 (GRCm39) |
M635I |
probably damaging |
Het |
Dlg5 |
A |
G |
14: 24,252,419 (GRCm39) |
V107A |
probably damaging |
Het |
Dsc2 |
A |
T |
18: 20,181,343 (GRCm39) |
F155I |
probably damaging |
Het |
Dtwd1 |
A |
G |
2: 126,006,739 (GRCm39) |
I254V |
probably damaging |
Het |
Dzip3 |
A |
T |
16: 48,792,621 (GRCm39) |
D221E |
probably damaging |
Het |
F13b |
T |
A |
1: 139,435,820 (GRCm39) |
|
probably benign |
Het |
Fam131b |
G |
A |
6: 42,295,206 (GRCm39) |
L324F |
probably damaging |
Het |
Fam83a |
A |
T |
15: 57,849,901 (GRCm39) |
R148S |
probably damaging |
Het |
Farsb |
T |
C |
1: 78,447,729 (GRCm39) |
I236V |
probably benign |
Het |
Fat4 |
T |
A |
3: 39,034,807 (GRCm39) |
F2820I |
probably damaging |
Het |
Fat4 |
T |
A |
3: 38,944,140 (GRCm39) |
V1011E |
probably damaging |
Het |
Fgf7 |
A |
G |
2: 125,930,164 (GRCm39) |
E99G |
probably damaging |
Het |
Fign |
T |
C |
2: 63,809,216 (GRCm39) |
T685A |
probably damaging |
Het |
Fubp1 |
G |
A |
3: 151,925,855 (GRCm39) |
G289E |
probably damaging |
Het |
Gata6 |
G |
T |
18: 11,064,530 (GRCm39) |
M477I |
probably damaging |
Het |
Hectd1 |
T |
C |
12: 51,807,904 (GRCm39) |
D1768G |
probably damaging |
Het |
Htatip2 |
T |
A |
7: 49,420,697 (GRCm39) |
|
probably null |
Het |
Irs2 |
C |
A |
8: 11,054,792 (GRCm39) |
Q1213H |
probably damaging |
Het |
Jak3 |
C |
T |
8: 72,132,264 (GRCm39) |
R210C |
probably damaging |
Het |
Klk1b27 |
T |
C |
7: 43,705,303 (GRCm39) |
S157P |
probably damaging |
Het |
Klri1 |
T |
C |
6: 129,675,800 (GRCm39) |
S157G |
probably damaging |
Het |
Mtmr2 |
G |
T |
9: 13,713,223 (GRCm39) |
G395* |
probably null |
Het |
Mx1 |
T |
A |
16: 97,256,832 (GRCm39) |
I116F |
probably damaging |
Het |
Oip5 |
A |
C |
2: 119,442,314 (GRCm39) |
M200R |
possibly damaging |
Het |
Or10ag56 |
T |
A |
2: 87,139,925 (GRCm39) |
L284Q |
possibly damaging |
Het |
Or10g3 |
T |
C |
14: 52,609,967 (GRCm39) |
D181G |
probably damaging |
Het |
Or4b1d |
T |
C |
2: 89,969,418 (GRCm39) |
K22E |
probably benign |
Het |
Or4k39 |
A |
G |
2: 111,239,564 (GRCm39) |
Y268C |
probably damaging |
Het |
Pamr1 |
T |
A |
2: 102,472,482 (GRCm39) |
S594T |
probably benign |
Het |
Phf13 |
C |
T |
4: 152,080,285 (GRCm39) |
E13K |
probably benign |
Het |
Plekha6 |
A |
T |
1: 133,200,074 (GRCm39) |
|
probably null |
Het |
Rad17 |
A |
C |
13: 100,754,311 (GRCm39) |
N636K |
probably benign |
Het |
Rad21 |
T |
A |
15: 51,836,520 (GRCm39) |
D217V |
probably damaging |
Het |
Slc7a10 |
A |
G |
7: 34,885,917 (GRCm39) |
D4G |
possibly damaging |
Het |
Stc1 |
A |
G |
14: 69,275,726 (GRCm39) |
D173G |
probably benign |
Het |
Supt16 |
C |
T |
14: 52,414,489 (GRCm39) |
E438K |
probably benign |
Het |
Tex15 |
C |
T |
8: 34,061,424 (GRCm39) |
Q559* |
probably null |
Het |
Trim44 |
T |
A |
2: 102,230,365 (GRCm39) |
E222V |
probably benign |
Het |
Ubr5 |
T |
C |
15: 37,981,767 (GRCm39) |
E2343G |
possibly damaging |
Het |
Vmn2r86 |
T |
C |
10: 130,288,365 (GRCm39) |
T379A |
possibly damaging |
Het |
Vmn2r93 |
A |
G |
17: 18,545,819 (GRCm39) |
T564A |
probably benign |
Het |
Vsir |
C |
A |
10: 60,203,539 (GRCm39) |
|
probably benign |
Het |
Vwc2l |
T |
A |
1: 70,768,163 (GRCm39) |
|
probably null |
Het |
Xrn2 |
T |
C |
2: 146,871,850 (GRCm39) |
V396A |
possibly damaging |
Het |
Zbbx |
T |
A |
3: 75,000,382 (GRCm39) |
K208* |
probably null |
Het |
Zfhx4 |
C |
A |
3: 5,309,344 (GRCm39) |
L857M |
probably damaging |
Het |
Zfp180 |
A |
G |
7: 23,800,904 (GRCm39) |
D53G |
probably benign |
Het |
|
Other mutations in Gm14496 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01144:Gm14496
|
APN |
2 |
181,636,814 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01300:Gm14496
|
APN |
2 |
181,642,753 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01526:Gm14496
|
APN |
2 |
181,637,458 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01576:Gm14496
|
APN |
2 |
181,633,164 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01775:Gm14496
|
APN |
2 |
181,642,125 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02020:Gm14496
|
APN |
2 |
181,637,882 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02150:Gm14496
|
APN |
2 |
181,633,140 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02170:Gm14496
|
APN |
2 |
181,638,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02262:Gm14496
|
APN |
2 |
181,637,805 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02398:Gm14496
|
APN |
2 |
181,637,963 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02414:Gm14496
|
APN |
2 |
181,633,198 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02541:Gm14496
|
APN |
2 |
181,642,186 (GRCm39) |
missense |
probably benign |
0.29 |
IGL02741:Gm14496
|
APN |
2 |
181,633,136 (GRCm39) |
missense |
probably benign |
|
IGL02933:Gm14496
|
APN |
2 |
181,642,256 (GRCm39) |
missense |
probably benign |
0.15 |
IGL03214:Gm14496
|
APN |
2 |
181,642,329 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4342:Gm14496
|
UTSW |
2 |
181,637,699 (GRCm39) |
missense |
probably benign |
0.01 |
R0158:Gm14496
|
UTSW |
2 |
181,639,206 (GRCm39) |
missense |
probably benign |
0.07 |
R0271:Gm14496
|
UTSW |
2 |
181,637,747 (GRCm39) |
missense |
probably benign |
0.44 |
R0611:Gm14496
|
UTSW |
2 |
181,636,904 (GRCm39) |
missense |
probably benign |
0.00 |
R0833:Gm14496
|
UTSW |
2 |
181,638,059 (GRCm39) |
missense |
probably damaging |
0.99 |
R0834:Gm14496
|
UTSW |
2 |
181,637,480 (GRCm39) |
missense |
probably benign |
0.00 |
R0906:Gm14496
|
UTSW |
2 |
181,642,308 (GRCm39) |
missense |
probably damaging |
0.98 |
R1298:Gm14496
|
UTSW |
2 |
181,637,885 (GRCm39) |
missense |
probably benign |
0.39 |
R1500:Gm14496
|
UTSW |
2 |
181,633,026 (GRCm39) |
missense |
probably benign |
0.21 |
R1585:Gm14496
|
UTSW |
2 |
181,638,002 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1610:Gm14496
|
UTSW |
2 |
181,637,972 (GRCm39) |
missense |
probably benign |
0.01 |
R1627:Gm14496
|
UTSW |
2 |
181,640,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R1635:Gm14496
|
UTSW |
2 |
181,642,837 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1663:Gm14496
|
UTSW |
2 |
181,639,230 (GRCm39) |
missense |
probably benign |
0.03 |
R1792:Gm14496
|
UTSW |
2 |
181,637,946 (GRCm39) |
missense |
probably benign |
0.00 |
R1888:Gm14496
|
UTSW |
2 |
181,641,989 (GRCm39) |
nonsense |
probably null |
|
R1888:Gm14496
|
UTSW |
2 |
181,641,989 (GRCm39) |
nonsense |
probably null |
|
R1922:Gm14496
|
UTSW |
2 |
181,642,797 (GRCm39) |
missense |
probably benign |
0.22 |
R2081:Gm14496
|
UTSW |
2 |
181,642,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R2102:Gm14496
|
UTSW |
2 |
181,633,127 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2176:Gm14496
|
UTSW |
2 |
181,633,130 (GRCm39) |
missense |
probably benign |
|
R4154:Gm14496
|
UTSW |
2 |
181,636,872 (GRCm39) |
missense |
probably benign |
0.01 |
R4789:Gm14496
|
UTSW |
2 |
181,637,577 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4873:Gm14496
|
UTSW |
2 |
181,639,226 (GRCm39) |
missense |
probably damaging |
0.99 |
R4875:Gm14496
|
UTSW |
2 |
181,639,226 (GRCm39) |
missense |
probably damaging |
0.99 |
R5020:Gm14496
|
UTSW |
2 |
181,633,152 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5354:Gm14496
|
UTSW |
2 |
181,642,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R5361:Gm14496
|
UTSW |
2 |
181,642,147 (GRCm39) |
missense |
probably benign |
0.07 |
R5457:Gm14496
|
UTSW |
2 |
181,639,401 (GRCm39) |
missense |
probably damaging |
0.96 |
R5589:Gm14496
|
UTSW |
2 |
181,637,674 (GRCm39) |
nonsense |
probably null |
|
R5655:Gm14496
|
UTSW |
2 |
181,637,975 (GRCm39) |
missense |
probably benign |
0.06 |
R6007:Gm14496
|
UTSW |
2 |
181,639,323 (GRCm39) |
missense |
probably benign |
0.37 |
R6123:Gm14496
|
UTSW |
2 |
181,633,020 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R6159:Gm14496
|
UTSW |
2 |
181,638,050 (GRCm39) |
missense |
probably benign |
0.01 |
R6168:Gm14496
|
UTSW |
2 |
181,642,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R6454:Gm14496
|
UTSW |
2 |
181,638,015 (GRCm39) |
missense |
probably damaging |
0.97 |
R6502:Gm14496
|
UTSW |
2 |
181,642,386 (GRCm39) |
missense |
probably benign |
0.01 |
R6649:Gm14496
|
UTSW |
2 |
181,639,269 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6996:Gm14496
|
UTSW |
2 |
181,637,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R7043:Gm14496
|
UTSW |
2 |
181,642,120 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7317:Gm14496
|
UTSW |
2 |
181,637,613 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7354:Gm14496
|
UTSW |
2 |
181,642,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R7565:Gm14496
|
UTSW |
2 |
181,642,630 (GRCm39) |
missense |
probably damaging |
0.99 |
R7565:Gm14496
|
UTSW |
2 |
181,633,050 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7669:Gm14496
|
UTSW |
2 |
181,637,711 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7828:Gm14496
|
UTSW |
2 |
181,633,171 (GRCm39) |
nonsense |
probably null |
|
R7870:Gm14496
|
UTSW |
2 |
181,637,906 (GRCm39) |
missense |
probably benign |
0.09 |
R8006:Gm14496
|
UTSW |
2 |
181,637,669 (GRCm39) |
missense |
probably benign |
0.03 |
R8379:Gm14496
|
UTSW |
2 |
181,642,275 (GRCm39) |
missense |
probably damaging |
0.99 |
R9174:Gm14496
|
UTSW |
2 |
181,642,797 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9416:Gm14496
|
UTSW |
2 |
181,640,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R9429:Gm14496
|
UTSW |
2 |
181,637,934 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9463:Gm14496
|
UTSW |
2 |
181,642,256 (GRCm39) |
missense |
probably benign |
0.15 |
R9499:Gm14496
|
UTSW |
2 |
181,638,179 (GRCm39) |
missense |
probably benign |
0.00 |
R9581:Gm14496
|
UTSW |
2 |
181,642,047 (GRCm39) |
missense |
probably benign |
0.10 |
X0058:Gm14496
|
UTSW |
2 |
181,637,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-10-07 |