Incidental Mutation 'R5655:Gm14496'
| ID |
442225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14496
|
| Ensembl Gene |
ENSMUSG00000098505 |
| Gene Name |
predicted gene 14496 |
| Synonyms |
|
| MMRRC Submission |
043301-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5655 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181633019-181642880 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 181637975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 350
(I350L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071760]
|
| AlphaFold |
K7N5U4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071760
AA Change: I350L
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000071670
Gene: ENSMUSG00000098505
AA Change: I350L
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016H13Rik |
T |
A |
5: 103,796,746 (GRCm39) |
I99F |
probably benign |
Het |
| Acan |
G |
A |
7: 78,749,791 (GRCm39) |
D1521N |
possibly damaging |
Het |
| Acap3 |
C |
T |
4: 155,981,076 (GRCm39) |
T53I |
probably benign |
Het |
| Actr3b |
G |
T |
5: 26,053,366 (GRCm39) |
V232F |
probably damaging |
Het |
| Adgrl1 |
G |
A |
8: 84,665,230 (GRCm39) |
V1311M |
possibly damaging |
Het |
| Arhgap23 |
T |
C |
11: 97,343,372 (GRCm39) |
|
probably null |
Het |
| Asns |
A |
C |
6: 7,685,309 (GRCm39) |
M116R |
probably benign |
Het |
| Asprv1 |
A |
T |
6: 86,605,464 (GRCm39) |
E103D |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,885,489 (GRCm39) |
I232T |
probably damaging |
Het |
| B020004C17Rik |
C |
T |
14: 57,252,689 (GRCm39) |
|
probably benign |
Het |
| Bckdha |
A |
G |
7: 25,329,789 (GRCm39) |
Y414H |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,974,387 (GRCm39) |
T2309M |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,507,333 (GRCm39) |
F361I |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,626,029 (GRCm39) |
|
probably null |
Het |
| Cog4 |
A |
G |
8: 111,589,939 (GRCm39) |
Y368C |
probably damaging |
Het |
| Cplx3 |
C |
T |
9: 57,523,258 (GRCm39) |
V100M |
probably damaging |
Het |
| Cyp4a12b |
C |
G |
4: 115,290,994 (GRCm39) |
H341D |
probably damaging |
Het |
| Ddx10 |
A |
T |
9: 53,120,987 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
T |
14: 26,431,424 (GRCm39) |
Y414F |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,595,496 (GRCm39) |
K1445R |
probably benign |
Het |
| Dync2h1 |
A |
C |
9: 7,148,659 (GRCm39) |
D928E |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,124,644 (GRCm39) |
|
probably null |
Het |
| Fam8a1 |
T |
A |
13: 46,827,814 (GRCm39) |
L334H |
probably damaging |
Het |
| Fgf14 |
T |
C |
14: 124,429,828 (GRCm39) |
N36D |
probably benign |
Het |
| Fmnl3 |
A |
T |
15: 99,219,743 (GRCm39) |
F668L |
probably damaging |
Het |
| Foxl2 |
C |
T |
9: 98,838,048 (GRCm39) |
P112L |
probably damaging |
Het |
| Foxp2 |
T |
G |
6: 15,197,112 (GRCm39) |
H51Q |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,339,323 (GRCm39) |
T539S |
probably benign |
Het |
| Ftcd |
G |
T |
10: 76,423,937 (GRCm39) |
G493C |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,948,099 (GRCm39) |
S230G |
probably benign |
Het |
| Gabra1 |
A |
T |
11: 42,073,750 (GRCm39) |
|
probably null |
Het |
| Idh2 |
A |
C |
7: 79,747,996 (GRCm39) |
C235G |
probably damaging |
Het |
| Ift140 |
C |
T |
17: 25,264,038 (GRCm39) |
L514F |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Lamc3 |
C |
A |
2: 31,815,729 (GRCm39) |
R1142S |
probably benign |
Het |
| Lmod2 |
A |
T |
6: 24,603,853 (GRCm39) |
H276L |
possibly damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,389,381 (GRCm39) |
I2015L |
probably benign |
Het |
| Mcf2l |
A |
G |
8: 13,060,444 (GRCm39) |
E764G |
probably damaging |
Het |
| Mcph1 |
G |
A |
8: 18,838,326 (GRCm39) |
M749I |
probably benign |
Het |
| Msh2 |
C |
T |
17: 88,026,871 (GRCm39) |
A789V |
possibly damaging |
Het |
| Ndufa2 |
T |
C |
18: 36,877,519 (GRCm39) |
I19V |
probably benign |
Het |
| Neurod4 |
T |
A |
10: 130,107,002 (GRCm39) |
K91* |
probably null |
Het |
| Nos1 |
G |
T |
5: 118,061,322 (GRCm39) |
G883C |
probably damaging |
Het |
| Npdc1 |
A |
T |
2: 25,297,692 (GRCm39) |
H121L |
possibly damaging |
Het |
| Or2ak5 |
G |
A |
11: 58,611,077 (GRCm39) |
H266Y |
probably damaging |
Het |
| Or3a10 |
A |
C |
11: 73,935,160 (GRCm39) |
Y313* |
probably null |
Het |
| Orc1 |
A |
G |
4: 108,450,636 (GRCm39) |
I123V |
probably benign |
Het |
| P2ry13 |
C |
T |
3: 59,117,260 (GRCm39) |
V173M |
possibly damaging |
Het |
| Pigk |
T |
A |
3: 152,445,858 (GRCm39) |
N156K |
probably damaging |
Het |
| Pik3ap1 |
A |
T |
19: 41,286,680 (GRCm39) |
F569Y |
possibly damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,063,889 (GRCm39) |
|
probably null |
Het |
| Plk3 |
A |
G |
4: 116,988,677 (GRCm39) |
L324P |
probably damaging |
Het |
| Pom121 |
A |
G |
5: 135,421,171 (GRCm39) |
S260P |
unknown |
Het |
| Prkn |
C |
T |
17: 11,456,536 (GRCm39) |
A119V |
probably damaging |
Het |
| Prrt2 |
G |
A |
7: 126,618,574 (GRCm39) |
A297V |
probably damaging |
Het |
| Prss47 |
A |
T |
13: 65,192,857 (GRCm39) |
V308E |
probably damaging |
Het |
| Ptbp2 |
T |
C |
3: 119,517,806 (GRCm39) |
I139V |
probably benign |
Het |
| Ptprz1 |
A |
T |
6: 22,999,772 (GRCm39) |
M621L |
probably benign |
Het |
| Rab6a |
G |
A |
7: 100,257,501 (GRCm39) |
|
probably null |
Het |
| Ranbp1 |
C |
T |
16: 18,059,669 (GRCm39) |
D127N |
probably damaging |
Het |
| Rnpepl1 |
G |
T |
1: 92,847,032 (GRCm39) |
R272L |
probably damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,420,859 (GRCm39) |
L314P |
probably damaging |
Het |
| Slc6a5 |
A |
T |
7: 49,606,218 (GRCm39) |
M709L |
probably benign |
Het |
| Smarcc1 |
A |
T |
9: 109,986,412 (GRCm39) |
S238C |
probably null |
Het |
| Snx29 |
C |
T |
16: 11,573,185 (GRCm39) |
L476F |
probably damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,194,618 (GRCm39) |
|
probably null |
Het |
| St6galnac2 |
T |
C |
11: 116,575,972 (GRCm39) |
N160D |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,556,671 (GRCm39) |
|
probably null |
Het |
| Trpc4ap |
G |
A |
2: 155,495,547 (GRCm39) |
T306I |
possibly damaging |
Het |
| Ubr5 |
T |
G |
15: 38,015,337 (GRCm39) |
Y891S |
probably damaging |
Het |
| Vmn1r220 |
A |
G |
13: 23,368,298 (GRCm39) |
F133L |
probably benign |
Het |
| Vmn1r56 |
T |
A |
7: 5,198,700 (GRCm39) |
I306F |
possibly damaging |
Het |
| Vmn1r67 |
T |
C |
7: 10,181,315 (GRCm39) |
V193A |
probably benign |
Het |
| Yipf1 |
T |
A |
4: 107,202,354 (GRCm39) |
V239E |
probably damaging |
Het |
| Zfp7 |
G |
T |
15: 76,775,629 (GRCm39) |
C557F |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGATCACAACCTCACAATGG -3'
(R):5'- TGAAATCTCGTTTGGGATCTGCC -3'
Sequencing Primer
(F):5'- ACCTCACAATGGGATGTCATTAC -3'
(R):5'- ACTCGGCTTGTTGAAGAAAGTG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation