Incidental Mutation 'R7870:Gm14496'
ID |
608032 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm14496
|
Ensembl Gene |
ENSMUSG00000098505 |
Gene Name |
predicted gene 14496 |
Synonyms |
|
MMRRC Submission |
045922-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7870 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
181633019-181642880 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 181637906 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 327
(I327V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071760]
|
AlphaFold |
K7N5U4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071760
AA Change: I327V
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000071670 Gene: ENSMUSG00000098505 AA Change: I327V
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
A |
10: 100,441,505 (GRCm39) |
F171L |
probably benign |
Het |
2410137M14Rik |
A |
T |
17: 37,288,909 (GRCm39) |
C152S |
unknown |
Het |
Alb |
T |
C |
5: 90,620,488 (GRCm39) |
F533L |
possibly damaging |
Het |
Alox12b |
T |
C |
11: 69,060,135 (GRCm39) |
M616T |
possibly damaging |
Het |
Atxn2l |
A |
G |
7: 126,091,924 (GRCm39) |
F968L |
probably benign |
Het |
Cadps2 |
G |
T |
6: 23,263,641 (GRCm39) |
H1227Q |
probably benign |
Het |
Cdh18 |
A |
T |
15: 23,474,413 (GRCm39) |
D761V |
possibly damaging |
Het |
Cdkl3 |
T |
C |
11: 51,909,284 (GRCm39) |
|
probably null |
Het |
Chrdl2 |
T |
C |
7: 99,659,249 (GRCm39) |
L9P |
unknown |
Het |
Ctr9 |
A |
G |
7: 110,651,618 (GRCm39) |
E946G |
unknown |
Het |
Cygb |
T |
A |
11: 116,540,116 (GRCm39) |
T178S |
probably benign |
Het |
Cyp2c67 |
A |
C |
19: 39,597,669 (GRCm39) |
M443R |
probably damaging |
Het |
Dnah12 |
A |
G |
14: 26,578,486 (GRCm39) |
T3082A |
probably benign |
Het |
Flnc |
C |
T |
6: 29,454,306 (GRCm39) |
T1906I |
probably damaging |
Het |
Gm29106 |
T |
A |
1: 118,126,885 (GRCm39) |
N192K |
possibly damaging |
Het |
H3f3a |
A |
T |
1: 180,639,490 (GRCm39) |
M1K |
probably null |
Het |
Htt |
T |
A |
5: 35,055,891 (GRCm39) |
W2601R |
possibly damaging |
Het |
Il18r1 |
T |
A |
1: 40,530,296 (GRCm39) |
I341K |
probably benign |
Het |
Kcnj1 |
G |
A |
9: 32,307,881 (GRCm39) |
V102I |
probably benign |
Het |
Lrp3 |
C |
A |
7: 34,910,922 (GRCm39) |
G41V |
probably damaging |
Het |
Lrrc9 |
G |
T |
12: 72,532,964 (GRCm39) |
K944N |
probably damaging |
Het |
Mettl21e |
T |
A |
1: 44,249,371 (GRCm39) |
E95V |
probably damaging |
Het |
Mib1 |
G |
A |
18: 10,798,446 (GRCm39) |
R769Q |
possibly damaging |
Het |
Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
Mymk |
A |
G |
2: 26,952,298 (GRCm39) |
S190P |
probably damaging |
Het |
Neb |
G |
A |
2: 52,215,761 (GRCm39) |
P182L |
probably damaging |
Het |
Nfil3 |
A |
G |
13: 53,122,449 (GRCm39) |
Y152H |
probably damaging |
Het |
Nisch |
A |
G |
14: 30,894,052 (GRCm39) |
Y1174H |
probably damaging |
Het |
Nyap1 |
G |
C |
5: 137,733,658 (GRCm39) |
Y458* |
probably null |
Het |
Or4d5 |
A |
C |
9: 40,011,973 (GRCm39) |
V271G |
possibly damaging |
Het |
Or52z13 |
T |
A |
7: 103,247,473 (GRCm39) |
C317S |
probably damaging |
Het |
Or5h17 |
G |
A |
16: 58,820,086 (GRCm39) |
V13I |
probably benign |
Het |
Pars2 |
T |
A |
4: 106,511,276 (GRCm39) |
Y353N |
probably damaging |
Het |
Patj |
G |
T |
4: 98,312,553 (GRCm39) |
G297V |
probably damaging |
Het |
Pcdh9 |
A |
T |
14: 94,124,693 (GRCm39) |
S492R |
probably damaging |
Het |
Pcyox1 |
G |
A |
6: 86,369,323 (GRCm39) |
R168C |
probably damaging |
Het |
Plbd1 |
A |
T |
6: 136,594,326 (GRCm39) |
Y308N |
possibly damaging |
Het |
Rax |
A |
G |
18: 66,071,284 (GRCm39) |
V117A |
probably benign |
Het |
Rdh9 |
C |
A |
10: 127,612,566 (GRCm39) |
N71K |
probably benign |
Het |
Sap130 |
A |
G |
18: 31,853,714 (GRCm39) |
N968S |
probably benign |
Het |
Sema5a |
A |
T |
15: 32,609,485 (GRCm39) |
I464F |
probably benign |
Het |
Sez6l |
T |
G |
5: 112,586,447 (GRCm39) |
D683A |
probably damaging |
Het |
Slit2 |
C |
A |
5: 48,459,649 (GRCm39) |
P1310T |
probably damaging |
Het |
Snap47 |
T |
C |
11: 59,328,904 (GRCm39) |
M133V |
probably benign |
Het |
Son |
TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC |
TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC |
16: 91,453,486 (GRCm39) |
|
probably benign |
Het |
Srcap |
G |
A |
7: 127,159,730 (GRCm39) |
S3202N |
unknown |
Het |
Ssh2 |
T |
C |
11: 77,344,441 (GRCm39) |
W809R |
probably benign |
Het |
Stau1 |
G |
T |
2: 166,792,870 (GRCm39) |
A365D |
possibly damaging |
Het |
Tfpi2 |
A |
G |
6: 3,968,281 (GRCm39) |
L15P |
probably damaging |
Het |
Thbs1 |
A |
T |
2: 117,945,508 (GRCm39) |
N329I |
possibly damaging |
Het |
Tmem65 |
A |
T |
15: 58,659,010 (GRCm39) |
D184E |
probably damaging |
Het |
Trpm6 |
G |
T |
19: 18,792,605 (GRCm39) |
E676D |
probably benign |
Het |
Vdr |
T |
G |
15: 97,782,771 (GRCm39) |
D17A |
possibly damaging |
Het |
Vmn1r123 |
C |
T |
7: 20,896,192 (GRCm39) |
T28I |
probably damaging |
Het |
Wdr90 |
A |
G |
17: 26,079,513 (GRCm39) |
L207P |
probably damaging |
Het |
Zfp354c |
TGTCACACTCG |
TG |
11: 50,706,065 (GRCm39) |
|
probably benign |
Het |
Zfp598 |
A |
G |
17: 24,898,304 (GRCm39) |
E402G |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGATATACATGACAAGGGCTAC -3'
(R):5'- TGTGCAGTGCTGTCCATTC -3'
Sequencing Primer
(F):5'- ATGACATCTTCAGCAAAGGTTG -3'
(R):5'- GTGCAGTGCTGTCCATTCCAATG -3'
|
Posted On |
2019-12-20 |