Incidental Mutation 'R5457:Gm14496'
| ID |
432798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14496
|
| Ensembl Gene |
ENSMUSG00000098505 |
| Gene Name |
predicted gene 14496 |
| Synonyms |
|
| MMRRC Submission |
043020-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5457 (G1)
|
| Quality Score |
204 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181633019-181642880 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 181639401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 497
(D497V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071760]
|
| AlphaFold |
K7N5U4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071760
AA Change: D497V
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000071670
Gene: ENSMUSG00000098505
AA Change: D497V
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
C |
A |
8: 87,236,473 (GRCm39) |
V1114L |
probably benign |
Het |
| Actr5 |
G |
A |
2: 158,477,918 (GRCm39) |
|
probably null |
Het |
| Adcy7 |
T |
C |
8: 89,037,649 (GRCm39) |
L239P |
probably damaging |
Het |
| Afg3l1 |
T |
A |
8: 124,216,707 (GRCm39) |
F315L |
possibly damaging |
Het |
| Agps |
A |
G |
2: 75,684,596 (GRCm39) |
Y188C |
probably benign |
Het |
| Akt1 |
T |
C |
12: 112,623,525 (GRCm39) |
T312A |
probably damaging |
Het |
| Ang2 |
T |
C |
14: 51,433,292 (GRCm39) |
Y30C |
probably damaging |
Het |
| Angpt1 |
G |
A |
15: 42,386,916 (GRCm39) |
T146I |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,702,813 (GRCm39) |
S288P |
probably damaging |
Het |
| Atp1b2 |
C |
T |
11: 69,493,558 (GRCm39) |
G4R |
probably damaging |
Het |
| Best3 |
T |
C |
10: 116,840,416 (GRCm39) |
F282S |
probably damaging |
Het |
| Cdkn2b |
A |
G |
4: 89,225,391 (GRCm39) |
L98P |
probably damaging |
Het |
| Cenps |
A |
G |
4: 149,216,094 (GRCm39) |
|
probably null |
Het |
| Clec16a |
G |
T |
16: 10,363,396 (GRCm39) |
|
probably null |
Het |
| Cxcl13 |
A |
T |
5: 96,104,830 (GRCm39) |
M1L |
unknown |
Het |
| Dcun1d4 |
A |
T |
5: 73,688,908 (GRCm39) |
E149D |
probably damaging |
Het |
| Dlst |
G |
A |
12: 85,168,914 (GRCm39) |
|
probably null |
Het |
| Dock10 |
C |
A |
1: 80,501,781 (GRCm39) |
C1803F |
probably damaging |
Het |
| Dpp10 |
T |
A |
1: 123,339,539 (GRCm39) |
K329N |
possibly damaging |
Het |
| Drosha |
T |
G |
15: 12,926,115 (GRCm39) |
Y1235D |
probably benign |
Het |
| Eif2s3y |
G |
A |
Y: 1,016,057 (GRCm39) |
G213D |
probably damaging |
Homo |
| Eps8 |
A |
T |
6: 137,489,175 (GRCm39) |
S408T |
probably damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,328,362 (GRCm39) |
D799G |
possibly damaging |
Het |
| Fcho2 |
T |
C |
13: 98,926,275 (GRCm39) |
K103E |
probably damaging |
Het |
| Fcrlb |
T |
C |
1: 170,739,726 (GRCm39) |
T59A |
probably damaging |
Het |
| Fgd4 |
T |
C |
16: 16,279,873 (GRCm39) |
R395G |
probably benign |
Het |
| Gpt2 |
A |
C |
8: 86,238,967 (GRCm39) |
N267H |
possibly damaging |
Het |
| Grb14 |
A |
T |
2: 64,747,442 (GRCm39) |
C43S |
probably damaging |
Het |
| Hjurp |
T |
TN |
1: 88,194,247 (GRCm39) |
|
probably null |
Het |
| Igkv8-16 |
A |
G |
6: 70,363,689 (GRCm39) |
V111A |
possibly damaging |
Het |
| Klra2 |
T |
A |
6: 131,198,852 (GRCm39) |
S230C |
possibly damaging |
Het |
| Lamb3 |
G |
A |
1: 193,008,302 (GRCm39) |
R245H |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,821,997 (GRCm39) |
E1315G |
probably benign |
Het |
| Lpin2 |
A |
G |
17: 71,550,367 (GRCm39) |
T672A |
probably damaging |
Het |
| Mcoln3 |
T |
A |
3: 145,833,877 (GRCm39) |
I139N |
probably benign |
Het |
| Mcpt8 |
C |
T |
14: 56,319,793 (GRCm39) |
C219Y |
probably benign |
Het |
| Mtcl3 |
A |
C |
10: 29,072,720 (GRCm39) |
I671L |
probably benign |
Het |
| Mug2 |
G |
T |
6: 122,026,688 (GRCm39) |
G541* |
probably null |
Het |
| Myo7b |
G |
T |
18: 32,104,503 (GRCm39) |
|
probably null |
Het |
| Or10j2 |
C |
T |
1: 173,098,141 (GRCm39) |
S133L |
probably benign |
Het |
| Or10j7 |
A |
G |
1: 173,011,180 (GRCm39) |
S274P |
probably damaging |
Het |
| Or5ac22 |
T |
C |
16: 59,135,213 (GRCm39) |
I186V |
probably benign |
Het |
| Or5k8 |
A |
T |
16: 58,644,796 (GRCm39) |
I92N |
probably damaging |
Het |
| Or7e176 |
A |
T |
9: 20,171,574 (GRCm39) |
Y146F |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,726,157 (GRCm39) |
|
probably benign |
Het |
| Pdk2 |
C |
T |
11: 94,919,408 (GRCm39) |
S289N |
probably damaging |
Het |
| Pex19 |
G |
T |
1: 171,958,245 (GRCm39) |
G75W |
probably damaging |
Het |
| Psma3 |
T |
G |
12: 71,031,339 (GRCm39) |
S26A |
probably benign |
Het |
| Pth1r |
A |
T |
9: 110,555,522 (GRCm39) |
I326N |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 109,912,037 (GRCm39) |
T1670A |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,523,193 (GRCm39) |
Y67H |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,330,280 (GRCm39) |
D578E |
probably benign |
Het |
| Spta1 |
C |
T |
1: 174,044,759 (GRCm39) |
A1465V |
probably damaging |
Het |
| Taar9 |
A |
G |
10: 23,985,003 (GRCm39) |
F144L |
probably damaging |
Het |
| Tal1 |
T |
C |
4: 114,925,777 (GRCm39) |
V282A |
probably benign |
Het |
| Tbrg4 |
C |
T |
11: 6,570,947 (GRCm39) |
R175Q |
probably damaging |
Het |
| Tdp1 |
C |
T |
12: 99,861,005 (GRCm39) |
Q215* |
probably null |
Het |
| Thsd4 |
A |
T |
9: 59,887,060 (GRCm39) |
W921R |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,786,787 (GRCm39) |
E3462G |
probably damaging |
Het |
| Try4 |
T |
C |
6: 41,280,355 (GRCm39) |
S60P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,541,265 (GRCm39) |
E25580G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,776,299 (GRCm39) |
I1581N |
possibly damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,781,873 (GRCm39) |
T291A |
probably damaging |
Het |
| Zkscan14 |
T |
C |
5: 145,138,169 (GRCm39) |
D106G |
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 |
|
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 |
|
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'- GGGTATTTACTAACCCTGTTGGAG -3'
(R):5'- CACAGAATCAGAAAATTCCATGGGC -3'
Sequencing Primer
(F):5'- CTAACCCTGTTGGAGAATTGGTGAAC -3'
(R):5'- TGGAATCCAGAGACCATTGATC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation