Incidental Mutation 'R5589:Gm14496'
| ID |
457970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14496
|
| Ensembl Gene |
ENSMUSG00000098505 |
| Gene Name |
predicted gene 14496 |
| Synonyms |
|
| MMRRC Submission |
043142-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5589 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181633019-181642880 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 181637674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 249
(Y249*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071760]
|
| AlphaFold |
K7N5U4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071760
AA Change: Y249*
|
| SMART Domains |
Protein: ENSMUSP00000071670
Gene: ENSMUSG00000098505
AA Change: Y249*
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
A |
11: 23,468,066 (GRCm39) |
M76L |
probably benign |
Het |
| Adrm1b |
T |
A |
3: 92,336,112 (GRCm39) |
|
probably benign |
Het |
| Alg1 |
T |
A |
16: 5,053,086 (GRCm39) |
W116R |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,715,340 (GRCm39) |
S33T |
probably damaging |
Het |
| Atp2b2 |
T |
C |
6: 113,751,400 (GRCm39) |
E556G |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,480,597 (GRCm39) |
I2761K |
possibly damaging |
Het |
| Ccdc68 |
G |
A |
18: 70,079,577 (GRCm39) |
G141E |
probably benign |
Het |
| Cckbr |
T |
C |
7: 105,083,732 (GRCm39) |
V220A |
probably damaging |
Het |
| Ccnd3 |
G |
A |
17: 47,909,544 (GRCm39) |
R45Q |
probably damaging |
Het |
| Cdh24 |
G |
T |
14: 54,874,832 (GRCm39) |
T391N |
probably damaging |
Het |
| Cldn11 |
A |
G |
3: 31,204,395 (GRCm39) |
T33A |
probably damaging |
Het |
| Clec2e |
T |
A |
6: 129,075,391 (GRCm39) |
Y50F |
probably benign |
Het |
| Cntnap1 |
A |
G |
11: 101,075,944 (GRCm39) |
N943D |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,454,484 (GRCm39) |
R177G |
possibly damaging |
Het |
| Dmgdh |
T |
C |
13: 93,813,665 (GRCm39) |
V70A |
probably damaging |
Het |
| Gmnc |
T |
A |
16: 26,781,714 (GRCm39) |
H105L |
probably damaging |
Het |
| Gpt2 |
A |
G |
8: 86,219,740 (GRCm39) |
Y62C |
probably damaging |
Het |
| Ift80 |
T |
C |
3: 68,838,233 (GRCm39) |
R413G |
probably damaging |
Het |
| Kctd16 |
C |
A |
18: 40,392,061 (GRCm39) |
D216E |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,743,864 (GRCm39) |
V873A |
probably benign |
Het |
| Klra4 |
G |
T |
6: 130,039,117 (GRCm39) |
Q92K |
probably benign |
Het |
| L1td1 |
C |
A |
4: 98,626,341 (GRCm39) |
N845K |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,605,277 (GRCm39) |
T1077I |
possibly damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,429,751 (GRCm39) |
I230T |
possibly damaging |
Het |
| Lsg1 |
T |
C |
16: 30,399,819 (GRCm39) |
N160S |
probably damaging |
Het |
| Lyzl4 |
G |
A |
9: 121,413,469 (GRCm39) |
R24C |
probably damaging |
Het |
| Mib1 |
A |
G |
18: 10,794,488 (GRCm39) |
N658S |
probably benign |
Het |
| Mmp8 |
T |
C |
9: 7,566,275 (GRCm39) |
I377T |
probably damaging |
Het |
| Mtmr14 |
T |
C |
6: 113,238,243 (GRCm39) |
|
probably null |
Het |
| Myo1c |
A |
G |
11: 75,548,414 (GRCm39) |
T58A |
possibly damaging |
Het |
| Myo9a |
C |
T |
9: 59,802,527 (GRCm39) |
Q2005* |
probably null |
Het |
| Neu3 |
G |
T |
7: 99,472,636 (GRCm39) |
P34T |
probably benign |
Het |
| Nlrp4b |
G |
A |
7: 10,449,512 (GRCm39) |
V205I |
probably benign |
Het |
| Or4b1b |
C |
T |
2: 90,112,313 (GRCm39) |
G202D |
probably damaging |
Het |
| Or4k38 |
T |
C |
2: 111,165,850 (GRCm39) |
N191S |
possibly damaging |
Het |
| Or5h23 |
A |
T |
16: 58,906,334 (GRCm39) |
S171T |
probably benign |
Het |
| Or5t15 |
A |
G |
2: 86,681,118 (GRCm39) |
I308T |
unknown |
Het |
| Or6c66 |
T |
G |
10: 129,461,319 (GRCm39) |
T204P |
probably damaging |
Het |
| Or9m1 |
T |
C |
2: 87,733,691 (GRCm39) |
T110A |
probably benign |
Het |
| Pcsk6 |
T |
C |
7: 65,578,933 (GRCm39) |
|
probably null |
Het |
| Pik3c2a |
A |
G |
7: 116,016,893 (GRCm39) |
V288A |
probably benign |
Het |
| Plcd3 |
T |
C |
11: 102,968,629 (GRCm39) |
D354G |
probably benign |
Het |
| Prkdc |
C |
A |
16: 15,524,655 (GRCm39) |
N1219K |
probably benign |
Het |
| Prl3d1 |
T |
A |
13: 27,278,927 (GRCm39) |
Y41N |
probably damaging |
Het |
| Qrich2 |
C |
T |
11: 116,332,234 (GRCm39) |
G2321R |
probably damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,831,886 (GRCm39) |
I94V |
probably benign |
Het |
| Serinc1 |
C |
A |
10: 57,399,262 (GRCm39) |
V214L |
probably benign |
Het |
| Serpina9 |
G |
T |
12: 103,967,728 (GRCm39) |
N222K |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,747,956 (GRCm39) |
Y429H |
probably damaging |
Het |
| Smyd1 |
C |
T |
6: 71,239,164 (GRCm39) |
V9M |
probably damaging |
Het |
| Sostdc1 |
C |
T |
12: 36,367,246 (GRCm39) |
Q141* |
probably null |
Het |
| Spam1 |
C |
T |
6: 24,796,109 (GRCm39) |
T20I |
probably benign |
Het |
| Tex47 |
T |
C |
5: 7,354,834 (GRCm39) |
V5A |
probably benign |
Het |
| Thbs4 |
T |
C |
13: 92,912,582 (GRCm39) |
|
probably null |
Het |
| Trim45 |
C |
T |
3: 100,837,257 (GRCm39) |
P531L |
probably damaging |
Het |
| Tshb |
A |
T |
3: 102,685,478 (GRCm39) |
Y50* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,599,320 (GRCm39) |
I19230V |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Uba6 |
G |
A |
5: 86,270,288 (GRCm39) |
T832I |
probably damaging |
Het |
| Unc13d |
A |
T |
11: 115,960,579 (GRCm39) |
V497D |
probably damaging |
Het |
| Usp13 |
T |
C |
3: 32,892,007 (GRCm39) |
V62A |
probably damaging |
Het |
| Vmn1r215 |
A |
C |
13: 23,260,189 (GRCm39) |
L76F |
probably damaging |
Het |
| Vmn1r215 |
G |
T |
13: 23,260,190 (GRCm39) |
G77C |
probably damaging |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
| Zbtb40 |
T |
C |
4: 136,722,594 (GRCm39) |
D828G |
probably damaging |
Het |
| Zfp74 |
A |
T |
7: 29,633,990 (GRCm39) |
C573S |
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 |
|
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 |
|
| Posted On |
2017-02-16 |
Incidental Mutation