Incidental Mutation 'R9416:Gm14496'
| ID |
712039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14496
|
| Ensembl Gene |
ENSMUSG00000098505 |
| Gene Name |
predicted gene 14496 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9416 (G1)
|
| Quality Score |
184.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181633019-181642880 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 181640647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 538
(C538F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071760]
|
| AlphaFold |
K7N5U4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071760
AA Change: C538F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071670
Gene: ENSMUSG00000098505
AA Change: C538F
| 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: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
C |
T |
4: 86,342,477 (GRCm39) |
T1672I |
probably damaging |
Het |
| Ahnak |
T |
G |
19: 8,990,266 (GRCm39) |
M3850R |
unknown |
Het |
| Cacna1s |
T |
A |
1: 136,022,689 (GRCm39) |
L874Q |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,274,479 (GRCm39) |
D622V |
probably benign |
Het |
| Ccdc150 |
T |
C |
1: 54,317,990 (GRCm39) |
S310P |
probably damaging |
Het |
| Cecr2 |
A |
T |
6: 120,735,538 (GRCm39) |
N148Y |
|
Het |
| Celsr2 |
T |
C |
3: 108,322,084 (GRCm39) |
T243A |
probably damaging |
Het |
| Coro1b |
C |
T |
19: 4,201,473 (GRCm39) |
T279I |
probably damaging |
Het |
| Cyp51 |
A |
G |
5: 4,150,198 (GRCm39) |
I175T |
probably damaging |
Het |
| Dnajc21 |
T |
C |
15: 10,462,048 (GRCm39) |
I118V |
possibly damaging |
Het |
| Dtna |
T |
C |
18: 23,780,112 (GRCm39) |
|
probably null |
Het |
| Etl4 |
A |
G |
2: 20,748,784 (GRCm39) |
K374R |
probably benign |
Het |
| Fance |
G |
A |
17: 28,537,327 (GRCm39) |
C53Y |
probably damaging |
Het |
| Gon4l |
T |
A |
3: 88,803,538 (GRCm39) |
V1383D |
probably benign |
Het |
| Gpr6 |
C |
A |
10: 40,946,944 (GRCm39) |
D213Y |
possibly damaging |
Het |
| Has2 |
A |
G |
15: 56,531,684 (GRCm39) |
Y344H |
probably damaging |
Het |
| Kcnh2 |
A |
T |
5: 24,537,964 (GRCm39) |
M133K |
probably benign |
Het |
| Kdm5a |
A |
G |
6: 120,365,056 (GRCm39) |
H152R |
probably damaging |
Het |
| Klhl33 |
C |
T |
14: 51,130,225 (GRCm39) |
R163H |
probably damaging |
Het |
| Lax1 |
T |
A |
1: 133,611,752 (GRCm39) |
Q61L |
probably benign |
Het |
| Lct |
T |
C |
1: 128,228,329 (GRCm39) |
T1055A |
possibly damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,756,163 (GRCm39) |
Y646C |
possibly damaging |
Het |
| Mtarc1 |
T |
C |
1: 184,527,633 (GRCm39) |
T274A |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,902,577 (GRCm39) |
V51A |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,137,215 (GRCm39) |
S250P |
|
Het |
| Nim1k |
A |
T |
13: 120,189,362 (GRCm39) |
C16S |
probably benign |
Het |
| Oosp1 |
T |
C |
19: 11,664,769 (GRCm39) |
T96A |
probably damaging |
Het |
| Or1e1c |
T |
C |
11: 73,265,790 (GRCm39) |
S75P |
probably damaging |
Het |
| Or2q1 |
G |
T |
6: 42,795,197 (GRCm39) |
R264L |
probably benign |
Het |
| Or8k17 |
T |
A |
2: 86,066,744 (GRCm39) |
Q138L |
probably damaging |
Het |
| Pik3c2b |
C |
T |
1: 133,005,187 (GRCm39) |
R563C |
probably damaging |
Het |
| Ppp1r18 |
CGAGGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGAGGA |
17: 36,184,743 (GRCm39) |
|
probably benign |
Het |
| Prps1l1 |
T |
A |
12: 35,035,089 (GRCm39) |
M68K |
|
Het |
| Prr11 |
A |
T |
11: 86,992,254 (GRCm39) |
L207* |
probably null |
Het |
| Psme3 |
T |
C |
11: 101,211,559 (GRCm39) |
Y202H |
probably damaging |
Het |
| Ptma |
A |
G |
1: 86,455,694 (GRCm39) |
S57G |
unknown |
Het |
| Rab24 |
A |
G |
13: 55,468,049 (GRCm39) |
V33A |
unknown |
Het |
| Reep6 |
A |
G |
10: 80,166,091 (GRCm39) |
T83A |
probably benign |
Het |
| Semp2l2b |
C |
T |
10: 21,943,752 (GRCm39) |
R76Q |
probably benign |
Het |
| Shroom4 |
GCAACAACAACAACAACAACAACAACA |
GCAACAACAACAACAACAACAACA |
X: 6,536,131 (GRCm39) |
|
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,925,390 (GRCm39) |
K357R |
probably benign |
Het |
| Slc2a4 |
T |
A |
11: 69,836,728 (GRCm39) |
H167L |
probably benign |
Het |
| Slc8a3 |
T |
A |
12: 81,361,838 (GRCm39) |
H327L |
probably benign |
Het |
| Slf1 |
G |
A |
13: 77,194,656 (GRCm39) |
L890F |
|
Het |
| Smchd1 |
A |
C |
17: 71,701,791 (GRCm39) |
I1067R |
probably benign |
Het |
| Stk33 |
T |
A |
7: 108,940,689 (GRCm39) |
N7I |
probably benign |
Het |
| Tex47 |
T |
C |
5: 7,355,194 (GRCm39) |
M125T |
possibly damaging |
Het |
| Thada |
A |
T |
17: 84,766,292 (GRCm39) |
L38* |
probably null |
Het |
| Thbs1 |
A |
G |
2: 117,947,983 (GRCm39) |
D381G |
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,203,603 (GRCm39) |
V1009D |
|
Het |
| Usp17la |
A |
T |
7: 104,508,531 (GRCm39) |
|
probably benign |
Het |
| Zfp438 |
A |
T |
18: 5,214,054 (GRCm39) |
N301K |
probably benign |
Het |
| Zfp606 |
T |
A |
7: 12,227,907 (GRCm39) |
I676N |
possibly 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 |
|
|
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 |
|
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'- GCCTGATATTGTTAAGTAACCCTG -3'
(R):5'- TTTGCTGGGTCCAAAAGAAGTG -3'
Sequencing Primer
(F):5'- GTTAAGTAACCCTGGTTATCAGAAG -3'
(R):5'- GTCTTCAGTTTGCATCTAGGA -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation