Incidental Mutation 'R1792:Gm14496'
| ID |
201810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14496
|
| Ensembl Gene |
ENSMUSG00000098505 |
| Gene Name |
predicted gene 14496 |
| Synonyms |
|
| MMRRC Submission |
039822-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1792 (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 181637946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 340
(D340V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071760]
|
| AlphaFold |
K7N5U4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071760
AA Change: D340V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000071670
Gene: ENSMUSG00000098505
AA Change: D340V
| 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: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
C |
T |
11: 110,074,870 (GRCm39) |
V1398I |
probably benign |
Het |
| Ackr3 |
A |
T |
1: 90,142,620 (GRCm39) |
N360Y |
probably benign |
Het |
| Acr |
T |
G |
15: 89,457,346 (GRCm39) |
M198R |
probably benign |
Het |
| Adamts14 |
A |
T |
10: 61,054,277 (GRCm39) |
M585K |
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,267,552 (GRCm39) |
C853S |
probably damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,067,694 (GRCm39) |
S1410R |
probably benign |
Het |
| Asprv1 |
T |
A |
6: 86,605,354 (GRCm39) |
F67I |
possibly damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,167,214 (GRCm39) |
Y1095F |
probably benign |
Het |
| Cadps |
A |
G |
14: 12,449,802 (GRCm38) |
S1136P |
possibly damaging |
Het |
| Ccdc57 |
T |
C |
11: 120,788,707 (GRCm39) |
Q380R |
possibly damaging |
Het |
| Cdc45 |
A |
T |
16: 18,626,090 (GRCm39) |
D142E |
probably benign |
Het |
| Cs |
A |
T |
10: 128,195,948 (GRCm39) |
N386Y |
possibly damaging |
Het |
| Dsc3 |
A |
T |
18: 20,120,055 (GRCm39) |
V201E |
probably damaging |
Het |
| Dusp26 |
G |
T |
8: 31,581,963 (GRCm39) |
R19L |
probably benign |
Het |
| Esyt3 |
C |
A |
9: 99,240,169 (GRCm39) |
E92* |
probably null |
Het |
| Ext2 |
T |
C |
2: 93,534,890 (GRCm39) |
N625D |
probably damaging |
Het |
| Flvcr2 |
A |
T |
12: 85,793,929 (GRCm39) |
K102* |
probably null |
Het |
| Fmnl2 |
T |
A |
2: 52,932,329 (GRCm39) |
S103T |
possibly damaging |
Het |
| Fmo4 |
T |
A |
1: 162,621,859 (GRCm39) |
I451F |
probably benign |
Het |
| Gak |
A |
T |
5: 108,733,397 (GRCm39) |
Y47* |
probably null |
Het |
| Gbp10 |
A |
T |
5: 105,372,166 (GRCm39) |
L198Q |
probably damaging |
Het |
| Gm11559 |
T |
A |
11: 99,755,755 (GRCm39) |
S135T |
unknown |
Het |
| Grin2a |
T |
C |
16: 9,810,259 (GRCm39) |
T47A |
possibly damaging |
Het |
| Gtf2ird1 |
A |
T |
5: 134,395,790 (GRCm39) |
|
probably null |
Het |
| Herc4 |
T |
A |
10: 63,081,680 (GRCm39) |
M1K |
probably null |
Het |
| Hirip3 |
T |
A |
7: 126,461,792 (GRCm39) |
V29E |
probably damaging |
Het |
| Hs3st5 |
A |
G |
10: 36,708,720 (GRCm39) |
D85G |
probably benign |
Het |
| Htt |
T |
A |
5: 35,064,543 (GRCm39) |
S2981T |
probably damaging |
Het |
| Iho1 |
A |
C |
9: 108,282,111 (GRCm39) |
S526A |
possibly damaging |
Het |
| Il20ra |
G |
A |
10: 19,635,384 (GRCm39) |
V542I |
probably damaging |
Het |
| Itgb2l |
C |
A |
16: 96,226,282 (GRCm39) |
C603F |
probably damaging |
Het |
| Klhl41 |
A |
C |
2: 69,501,146 (GRCm39) |
K202N |
probably benign |
Het |
| Lct |
G |
A |
1: 128,255,679 (GRCm39) |
S121F |
possibly damaging |
Het |
| Lhx6 |
C |
T |
2: 35,977,387 (GRCm39) |
G355D |
probably damaging |
Het |
| Limk2 |
A |
G |
11: 3,308,236 (GRCm39) |
V121A |
probably benign |
Het |
| Med1 |
T |
G |
11: 98,048,109 (GRCm39) |
K896Q |
probably damaging |
Het |
| Muc6 |
A |
G |
7: 141,214,371 (GRCm39) |
F2789S |
probably benign |
Het |
| Nemf |
T |
A |
12: 69,359,343 (GRCm39) |
Y997F |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,367,590 (GRCm39) |
S296P |
probably benign |
Het |
| Nrxn1 |
T |
C |
17: 90,896,252 (GRCm39) |
N961D |
probably damaging |
Het |
| Odad2 |
T |
C |
18: 7,286,743 (GRCm39) |
T163A |
probably benign |
Het |
| Or1r1 |
A |
C |
11: 73,874,673 (GRCm39) |
S254A |
probably benign |
Het |
| Or6c207 |
A |
T |
10: 129,105,112 (GRCm39) |
F27I |
probably benign |
Het |
| Or6y1 |
T |
C |
1: 174,276,303 (GRCm39) |
V38A |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pdk4 |
T |
A |
6: 5,489,166 (GRCm39) |
H247L |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,359,237 (GRCm39) |
V866E |
probably damaging |
Het |
| Pla2g4e |
G |
A |
2: 119,998,955 (GRCm39) |
P803L |
probably damaging |
Het |
| Pnisr |
T |
C |
4: 21,860,968 (GRCm39) |
V217A |
possibly damaging |
Het |
| Pole4 |
G |
A |
6: 82,629,720 (GRCm39) |
P34L |
unknown |
Het |
| Pole4 |
G |
T |
6: 82,629,721 (GRCm39) |
P34T |
unknown |
Het |
| Ptchd3 |
G |
A |
11: 121,732,377 (GRCm39) |
W422* |
probably null |
Het |
| Rab1b |
C |
T |
19: 5,150,513 (GRCm39) |
A167T |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,802,821 (GRCm39) |
M359T |
probably benign |
Het |
| Rexo4 |
T |
C |
2: 26,850,248 (GRCm39) |
N310D |
probably benign |
Het |
| Rgma |
C |
T |
7: 73,067,585 (GRCm39) |
T280M |
probably damaging |
Het |
| Rnaset2a |
A |
T |
17: 8,364,408 (GRCm39) |
I43N |
probably damaging |
Het |
| Rtcb |
A |
T |
10: 85,778,446 (GRCm39) |
V399E |
probably damaging |
Het |
| Scd4 |
T |
G |
19: 44,326,013 (GRCm39) |
Y122* |
probably null |
Het |
| Sirt6 |
T |
C |
10: 81,462,355 (GRCm39) |
I15V |
possibly damaging |
Het |
| Slamf8 |
A |
T |
1: 172,415,526 (GRCm39) |
V104E |
possibly damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,678,475 (GRCm39) |
I285T |
possibly damaging |
Het |
| Slc25a13 |
G |
A |
6: 6,115,104 (GRCm39) |
A207V |
possibly damaging |
Het |
| Slc6a21 |
T |
C |
7: 44,930,155 (GRCm39) |
S185P |
probably benign |
Het |
| Smarcc2 |
A |
C |
10: 128,299,740 (GRCm39) |
N135T |
probably damaging |
Het |
| Susd6 |
T |
C |
12: 80,921,065 (GRCm39) |
S221P |
probably damaging |
Het |
| Syne1 |
C |
T |
10: 4,990,975 (GRCm39) |
G8418D |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,640,559 (GRCm39) |
K193E |
possibly damaging |
Het |
| Tbc1d7 |
C |
T |
13: 43,318,853 (GRCm39) |
V95I |
probably benign |
Het |
| Tcerg1l |
T |
C |
7: 137,963,595 (GRCm39) |
D225G |
probably benign |
Het |
| Tfip11 |
A |
T |
5: 112,477,263 (GRCm39) |
I82F |
possibly damaging |
Het |
| Tmem41a |
C |
T |
16: 21,755,731 (GRCm39) |
G192S |
probably null |
Het |
| Trrap |
G |
A |
5: 144,790,396 (GRCm39) |
A3619T |
possibly damaging |
Het |
| Tspoap1 |
G |
A |
11: 87,656,707 (GRCm39) |
|
probably null |
Het |
| Wfdc21 |
T |
C |
11: 83,637,883 (GRCm39) |
S11P |
probably benign |
Het |
| Zc2hc1b |
A |
T |
10: 13,044,474 (GRCm39) |
V63E |
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 |
|
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'- AGATGGGAAGATTTAGGTGCTC -3'
(R):5'- TGAGACTCGGCTTGTTGAAGAAAG -3'
Sequencing Primer
(F):5'- TGCTCAGAGAATCTGGATCAC -3'
(R):5'- GTGTGAGCTGCAGCATAAAC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation