Incidental Mutation 'R0158:Gm14496'
ID |
60911 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm14496
|
Ensembl Gene |
ENSMUSG00000098505 |
Gene Name |
predicted gene 14496 |
Synonyms |
|
MMRRC Submission |
038438-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0158 (G1)
|
Quality Score |
94 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
181633019-181642880 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 181639206 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 432
(V432E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071760]
|
AlphaFold |
K7N5U4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071760
AA Change: V432E
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000071670 Gene: ENSMUSG00000098505 AA Change: V432E
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: 98.9%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 89.1%
|
Validation Efficiency |
93% (79/85) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
C |
T |
16: 20,371,316 (GRCm39) |
R437C |
probably damaging |
Het |
Abhd3 |
A |
G |
18: 10,647,840 (GRCm39) |
Y315H |
possibly damaging |
Het |
Adam19 |
C |
T |
11: 46,033,861 (GRCm39) |
P891L |
probably damaging |
Het |
Ampd1 |
T |
A |
3: 102,999,046 (GRCm39) |
Y400* |
probably null |
Het |
Ap1g1 |
T |
C |
8: 110,582,267 (GRCm39) |
S724P |
probably benign |
Het |
Bst2 |
T |
A |
8: 71,989,861 (GRCm39) |
T71S |
possibly damaging |
Het |
C3 |
A |
G |
17: 57,531,851 (GRCm39) |
|
probably null |
Het |
Cacna2d1 |
C |
A |
5: 16,566,815 (GRCm39) |
|
probably benign |
Het |
Cacna2d4 |
C |
T |
6: 119,213,709 (GRCm39) |
H43Y |
possibly damaging |
Het |
Ccdc71 |
T |
G |
9: 108,341,336 (GRCm39) |
V383G |
probably benign |
Het |
Cd109 |
A |
T |
9: 78,596,214 (GRCm39) |
Q849L |
possibly damaging |
Het |
Cdkn2a |
A |
T |
4: 89,195,004 (GRCm39) |
H115Q |
possibly damaging |
Het |
Ces1e |
T |
C |
8: 93,946,057 (GRCm39) |
E161G |
probably benign |
Het |
Cggbp1 |
C |
T |
16: 64,676,201 (GRCm39) |
S89L |
possibly damaging |
Het |
Crocc |
A |
T |
4: 140,769,553 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
T |
A |
13: 113,505,687 (GRCm39) |
L2272* |
probably null |
Het |
Eef1akmt3 |
G |
A |
10: 126,869,142 (GRCm39) |
Q111* |
probably null |
Het |
Exoc7 |
T |
C |
11: 116,186,118 (GRCm39) |
N361S |
probably benign |
Het |
Fat2 |
G |
T |
11: 55,187,011 (GRCm39) |
S1278R |
probably benign |
Het |
Fbxo42 |
A |
G |
4: 140,927,640 (GRCm39) |
N640S |
probably benign |
Het |
Fbxw25 |
A |
G |
9: 109,483,720 (GRCm39) |
V164A |
possibly damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,854,917 (GRCm39) |
I1848V |
probably damaging |
Het |
Foxs1 |
T |
C |
2: 152,774,330 (GRCm39) |
E241G |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,924,493 (GRCm39) |
I3645F |
possibly damaging |
Het |
H3c2 |
T |
A |
13: 23,936,693 (GRCm39) |
C111S |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,403,203 (GRCm39) |
L4374* |
probably null |
Het |
Ift122 |
T |
C |
6: 115,901,445 (GRCm39) |
|
probably benign |
Het |
Itgav |
C |
A |
2: 83,622,381 (GRCm39) |
N654K |
probably benign |
Het |
Itih5 |
T |
C |
2: 10,239,803 (GRCm39) |
|
probably benign |
Het |
Jak2 |
C |
A |
19: 29,289,157 (GRCm39) |
T1103K |
probably benign |
Het |
Kcnc4 |
C |
A |
3: 107,365,920 (GRCm39) |
C96F |
probably benign |
Het |
Med13l |
C |
A |
5: 118,880,514 (GRCm39) |
S1202Y |
unknown |
Het |
Mefv |
T |
C |
16: 3,533,320 (GRCm39) |
E317G |
possibly damaging |
Het |
Ncoa2 |
T |
C |
1: 13,222,608 (GRCm39) |
T1226A |
probably benign |
Het |
Nktr |
C |
T |
9: 121,579,757 (GRCm39) |
|
probably benign |
Het |
Nudt5 |
G |
A |
2: 5,867,114 (GRCm39) |
V61M |
probably damaging |
Het |
Or51a39 |
C |
T |
7: 102,363,162 (GRCm39) |
A153T |
probably benign |
Het |
Pakap |
A |
G |
4: 57,709,649 (GRCm39) |
D198G |
possibly damaging |
Het |
Pcdhb2 |
A |
C |
18: 37,430,283 (GRCm39) |
Y752S |
probably damaging |
Het |
Pcnx4 |
A |
G |
12: 72,603,076 (GRCm39) |
D446G |
probably benign |
Het |
Pnp2 |
G |
A |
14: 51,201,761 (GRCm39) |
R249H |
probably damaging |
Het |
Rgs3 |
A |
T |
4: 62,542,121 (GRCm39) |
I32F |
probably damaging |
Het |
Rnf139 |
A |
G |
15: 58,770,727 (GRCm39) |
T251A |
probably benign |
Het |
Rnf41 |
A |
G |
10: 128,274,104 (GRCm39) |
E252G |
probably damaging |
Het |
Rxfp2 |
T |
A |
5: 149,975,093 (GRCm39) |
F220Y |
probably benign |
Het |
Sdcbp |
A |
G |
4: 6,379,042 (GRCm39) |
D43G |
possibly damaging |
Het |
Serpina3f |
A |
G |
12: 104,183,267 (GRCm39) |
D43G |
probably damaging |
Het |
Sftpc |
T |
C |
14: 70,758,887 (GRCm39) |
K154R |
probably null |
Het |
Simc1 |
A |
G |
13: 54,672,530 (GRCm39) |
T293A |
probably benign |
Het |
Skint6 |
A |
T |
4: 113,042,011 (GRCm39) |
|
probably benign |
Het |
Slc6a15 |
T |
C |
10: 103,225,208 (GRCm39) |
|
probably benign |
Het |
Spata31e2 |
T |
G |
1: 26,723,032 (GRCm39) |
H716P |
probably damaging |
Het |
Ston2 |
A |
T |
12: 91,707,376 (GRCm39) |
I78N |
probably damaging |
Het |
Taok3 |
T |
C |
5: 117,355,307 (GRCm39) |
|
probably null |
Het |
Tent4b |
G |
A |
8: 88,977,371 (GRCm39) |
G391D |
probably damaging |
Het |
Tiam1 |
C |
T |
16: 89,589,889 (GRCm39) |
|
probably benign |
Het |
Tnfsf15 |
T |
C |
4: 63,648,229 (GRCm39) |
H137R |
possibly damaging |
Het |
Tpte |
G |
A |
8: 22,817,755 (GRCm39) |
R247H |
possibly damaging |
Het |
Trim2 |
T |
C |
3: 84,117,476 (GRCm39) |
|
probably benign |
Het |
Ulk1 |
A |
T |
5: 110,936,810 (GRCm39) |
|
probably benign |
Het |
Utp4 |
T |
G |
8: 107,640,018 (GRCm39) |
H442Q |
probably null |
Het |
Vmn1r193 |
T |
A |
13: 22,403,798 (GRCm39) |
I65F |
probably damaging |
Het |
Vps54 |
A |
T |
11: 21,256,962 (GRCm39) |
Q690L |
probably damaging |
Het |
Ybx2 |
T |
C |
11: 69,831,145 (GRCm39) |
|
probably benign |
Het |
Zbtb38 |
C |
T |
9: 96,568,993 (GRCm39) |
G697D |
possibly damaging |
Het |
Zfp202 |
C |
T |
9: 40,120,212 (GRCm39) |
Q218* |
probably null |
Het |
Zfp820 |
G |
A |
17: 22,038,800 (GRCm39) |
T176I |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGAAAAGGTGTCTCAACATTTCACCA -3'
(R):5'- AGTTGTTGACTCTGTGGAAAACAAGGT -3'
Sequencing Primer
(F):5'- tcagaaatccgcctgcc -3'
(R):5'- CTGTGGAAAACAAGGTAAATAGCTTC -3'
|
Posted On |
2013-07-24 |