Incidental Mutation 'IGL02541:Gm14496'
ID |
298210 |
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 # |
IGL02541
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
181633019-181642880 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 181642186 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 619
(R619Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071760]
|
AlphaFold |
K7N5U4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071760
AA Change: R619Q
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000071670 Gene: ENSMUSG00000098505 AA Change: R619Q
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
T |
7: 120,113,881 (GRCm39) |
L917F |
possibly damaging |
Het |
Abca6 |
A |
T |
11: 110,103,093 (GRCm39) |
W833R |
probably damaging |
Het |
Asb15 |
T |
A |
6: 24,566,265 (GRCm39) |
V406D |
probably damaging |
Het |
Bcl9l |
T |
C |
9: 44,419,066 (GRCm39) |
V968A |
probably benign |
Het |
Bend7 |
T |
C |
2: 4,768,116 (GRCm39) |
|
probably null |
Het |
Cadm2 |
C |
A |
16: 66,679,770 (GRCm39) |
G21V |
possibly damaging |
Het |
Cadm2 |
C |
A |
16: 66,679,771 (GRCm39) |
|
probably null |
Het |
Camta1 |
G |
A |
4: 151,169,112 (GRCm39) |
T1191I |
probably benign |
Het |
Cep152 |
C |
T |
2: 125,447,274 (GRCm39) |
A425T |
probably damaging |
Het |
Cep95 |
C |
A |
11: 106,706,407 (GRCm39) |
Q554K |
probably damaging |
Het |
Cgref1 |
A |
G |
5: 31,091,502 (GRCm39) |
|
probably null |
Het |
Clock |
T |
A |
5: 76,410,519 (GRCm39) |
|
probably null |
Het |
Cmc2 |
A |
G |
8: 117,620,883 (GRCm39) |
F33L |
probably benign |
Het |
Cnksr3 |
A |
G |
10: 7,085,073 (GRCm39) |
V258A |
probably damaging |
Het |
Col6a6 |
G |
T |
9: 105,609,415 (GRCm39) |
N1624K |
probably benign |
Het |
Cped1 |
T |
C |
6: 22,120,988 (GRCm39) |
I356T |
probably benign |
Het |
Dpy19l2 |
C |
T |
9: 24,569,943 (GRCm39) |
V337I |
probably benign |
Het |
E2f3 |
A |
T |
13: 30,100,827 (GRCm39) |
|
probably null |
Het |
Eif1ad |
A |
G |
19: 5,418,445 (GRCm39) |
|
probably benign |
Het |
Fam114a2 |
A |
T |
11: 57,390,627 (GRCm39) |
D302E |
probably benign |
Het |
Fign |
T |
C |
2: 63,809,881 (GRCm39) |
N463S |
probably benign |
Het |
Fzr1 |
T |
C |
10: 81,205,867 (GRCm39) |
T220A |
probably damaging |
Het |
Gm9966 |
T |
C |
7: 95,607,991 (GRCm39) |
I104T |
unknown |
Het |
Itgb7 |
G |
T |
15: 102,131,892 (GRCm39) |
H230Q |
probably benign |
Het |
Kif7 |
T |
C |
7: 79,360,628 (GRCm39) |
H249R |
possibly damaging |
Het |
Krtap4-2 |
T |
G |
11: 99,525,792 (GRCm39) |
Q20P |
unknown |
Het |
Mis18bp1 |
T |
C |
12: 65,208,234 (GRCm39) |
T160A |
probably damaging |
Het |
Mrps9 |
T |
C |
1: 42,901,814 (GRCm39) |
|
probably null |
Het |
Mynn |
T |
A |
3: 30,665,752 (GRCm39) |
H461Q |
probably damaging |
Het |
Naa25 |
A |
G |
5: 121,562,594 (GRCm39) |
T459A |
possibly damaging |
Het |
Niban3 |
A |
T |
8: 72,055,426 (GRCm39) |
T279S |
probably benign |
Het |
Notch1 |
C |
T |
2: 26,358,515 (GRCm39) |
D1439N |
probably benign |
Het |
Or2ag2b |
A |
G |
7: 106,417,809 (GRCm39) |
E173G |
probably benign |
Het |
Pals2 |
A |
G |
6: 50,160,707 (GRCm39) |
I323V |
probably benign |
Het |
Pcdhb3 |
A |
T |
18: 37,435,198 (GRCm39) |
D388V |
probably damaging |
Het |
Pold3 |
C |
T |
7: 99,732,879 (GRCm39) |
G417S |
probably damaging |
Het |
Pwwp3a |
G |
A |
10: 80,064,273 (GRCm39) |
|
probably null |
Het |
Rad17 |
A |
G |
13: 100,769,951 (GRCm39) |
|
probably benign |
Het |
Sh3glb1 |
T |
C |
3: 144,425,801 (GRCm39) |
D5G |
probably damaging |
Het |
Shank3 |
T |
A |
15: 89,385,613 (GRCm39) |
Y167N |
probably damaging |
Het |
Slc3a2 |
A |
T |
19: 8,685,123 (GRCm39) |
Y292* |
probably null |
Het |
Slc7a13 |
T |
A |
4: 19,839,212 (GRCm39) |
|
probably benign |
Het |
Snx18 |
A |
T |
13: 113,731,302 (GRCm39) |
I564N |
probably damaging |
Het |
Supt6 |
G |
A |
11: 78,117,744 (GRCm39) |
R491C |
probably damaging |
Het |
Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
Tnrc6b |
C |
A |
15: 80,764,032 (GRCm39) |
D511E |
probably benign |
Het |
Trio |
A |
G |
15: 27,845,016 (GRCm39) |
|
probably benign |
Het |
Trmt12 |
T |
A |
15: 58,745,651 (GRCm39) |
W350R |
probably benign |
Het |
Ttc1 |
T |
C |
11: 43,629,648 (GRCm39) |
T173A |
probably benign |
Het |
Ttc39d |
C |
A |
17: 80,523,875 (GRCm39) |
T178K |
probably damaging |
Het |
Ufl1 |
T |
A |
4: 25,250,534 (GRCm39) |
E693V |
possibly damaging |
Het |
Vamp2 |
G |
T |
11: 68,979,977 (GRCm39) |
E16D |
unknown |
Het |
Vmn2r-ps158 |
T |
A |
7: 42,673,092 (GRCm39) |
|
probably benign |
Het |
Wdr70 |
C |
T |
15: 7,913,783 (GRCm39) |
W622* |
probably null |
Het |
Zfp28 |
C |
T |
7: 6,396,479 (GRCm39) |
Q305* |
probably null |
Het |
Zfp653 |
C |
A |
9: 21,967,079 (GRCm39) |
R602L |
probably damaging |
Het |
Zzef1 |
T |
A |
11: 72,763,475 (GRCm39) |
V1374E |
probably damaging |
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 |
IGL01328:Gm14496
|
APN |
2 |
181,637,673 (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 |
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 |
2015-04-16 |