Incidental Mutation 'R0271:Gm14496'
| ID |
35285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14496
|
| Ensembl Gene |
ENSMUSG00000098505 |
| Gene Name |
predicted gene 14496 |
| Synonyms |
|
| MMRRC Submission |
038497-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0271 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
181633019-181642880 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 181637747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 274
(M274L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071760]
|
| AlphaFold |
K7N5U4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071760
AA Change: M274L
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000071670
Gene: ENSMUSG00000098505
AA Change: M274L
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.2%
- 20x: 90.6%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
A |
G |
11: 70,507,474 (GRCm39) |
Q173R |
possibly damaging |
Het |
| Ampd2 |
C |
T |
3: 107,994,032 (GRCm39) |
|
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,402,658 (GRCm39) |
S1467G |
possibly damaging |
Het |
| Arhgap31 |
T |
G |
16: 38,422,872 (GRCm39) |
S1065R |
possibly damaging |
Het |
| Arhgef19 |
G |
T |
4: 140,977,918 (GRCm39) |
M542I |
probably benign |
Het |
| C7 |
T |
C |
15: 5,044,862 (GRCm39) |
D392G |
possibly damaging |
Het |
| Ccdc138 |
G |
A |
10: 58,411,645 (GRCm39) |
C671Y |
probably damaging |
Het |
| Cdh8 |
A |
G |
8: 99,838,347 (GRCm39) |
S498P |
possibly damaging |
Het |
| Cpb2 |
T |
A |
14: 75,495,149 (GRCm39) |
|
probably null |
Het |
| Cwc22 |
A |
C |
2: 77,751,202 (GRCm39) |
N389K |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,278,025 (GRCm39) |
L550Q |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,665,811 (GRCm39) |
R950G |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,798,949 (GRCm39) |
V437A |
possibly damaging |
Het |
| Fanca |
T |
C |
8: 123,999,180 (GRCm39) |
|
probably benign |
Het |
| Fgd2 |
C |
G |
17: 29,585,982 (GRCm39) |
L189V |
possibly damaging |
Het |
| Foxred2 |
A |
C |
15: 77,827,590 (GRCm39) |
S590A |
possibly damaging |
Het |
| Gm1110 |
A |
G |
9: 26,831,962 (GRCm39) |
F63S |
probably damaging |
Het |
| Gm7008 |
T |
A |
12: 40,273,559 (GRCm39) |
|
probably benign |
Het |
| Gm9922 |
T |
A |
14: 101,966,989 (GRCm39) |
|
probably benign |
Het |
| Gtf3c3 |
A |
T |
1: 54,467,971 (GRCm39) |
M222K |
possibly damaging |
Het |
| Hspa1b |
A |
G |
17: 35,177,808 (GRCm39) |
V59A |
probably benign |
Het |
| Impg1 |
T |
C |
9: 80,294,161 (GRCm39) |
|
probably benign |
Het |
| Khdc4 |
T |
C |
3: 88,593,636 (GRCm39) |
|
probably benign |
Het |
| Lpcat4 |
T |
A |
2: 112,073,590 (GRCm39) |
|
probably null |
Het |
| Mipol1 |
T |
C |
12: 57,507,740 (GRCm39) |
|
probably benign |
Het |
| Mrpl37 |
C |
A |
4: 106,923,658 (GRCm39) |
R112L |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,957,551 (GRCm39) |
N1471D |
possibly damaging |
Het |
| Nes |
G |
A |
3: 87,885,949 (GRCm39) |
E1359K |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,391,221 (GRCm39) |
V251E |
possibly damaging |
Het |
| Nlrp1b |
T |
C |
11: 71,052,591 (GRCm39) |
I946V |
possibly damaging |
Het |
| Obscn |
T |
G |
11: 58,947,568 (GRCm39) |
|
probably benign |
Het |
| Or10q1b |
A |
T |
19: 13,682,499 (GRCm39) |
T103S |
probably benign |
Het |
| Or4a2 |
T |
A |
2: 89,248,502 (GRCm39) |
Y85F |
probably benign |
Het |
| Or51q1 |
T |
A |
7: 103,628,837 (GRCm39) |
I146K |
possibly damaging |
Het |
| Or5m12 |
A |
T |
2: 85,734,633 (GRCm39) |
M255K |
possibly damaging |
Het |
| Pck2 |
T |
C |
14: 55,782,041 (GRCm39) |
|
probably null |
Het |
| Pcsk9 |
A |
G |
4: 106,306,246 (GRCm39) |
|
probably benign |
Het |
| Phyhd1 |
A |
T |
2: 30,159,834 (GRCm39) |
Q56L |
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,673,780 (GRCm39) |
G1001S |
probably null |
Het |
| Prss52 |
T |
C |
14: 64,351,127 (GRCm39) |
V304A |
probably benign |
Het |
| Prss55 |
C |
T |
14: 64,313,056 (GRCm39) |
G276D |
probably benign |
Het |
| Pzp |
A |
T |
6: 128,496,477 (GRCm39) |
Y252N |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,490,543 (GRCm39) |
|
probably null |
Het |
| Ripply3 |
A |
T |
16: 94,136,616 (GRCm39) |
E92D |
possibly damaging |
Het |
| Rpp30 |
T |
A |
19: 36,081,803 (GRCm39) |
D255E |
probably benign |
Het |
| Rsad1 |
T |
C |
11: 94,439,290 (GRCm39) |
|
probably benign |
Het |
| Serpini2 |
A |
G |
3: 75,153,885 (GRCm39) |
M358T |
probably damaging |
Het |
| Slc35a1 |
T |
A |
4: 34,664,125 (GRCm39) |
E331V |
probably benign |
Het |
| Slc38a7 |
A |
G |
8: 96,572,506 (GRCm39) |
F179L |
probably damaging |
Het |
| Stmn4 |
C |
T |
14: 66,593,732 (GRCm39) |
Q42* |
probably null |
Het |
| Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
| Tab2 |
G |
A |
10: 7,794,922 (GRCm39) |
A520V |
probably benign |
Het |
| Tcp10a |
A |
G |
17: 7,598,555 (GRCm39) |
I162M |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,244,986 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf14 |
A |
G |
4: 155,011,054 (GRCm39) |
|
probably null |
Het |
| Tpx2 |
A |
G |
2: 152,709,287 (GRCm39) |
|
probably benign |
Het |
| Vmn2r105 |
T |
A |
17: 20,454,965 (GRCm39) |
N57I |
probably damaging |
Het |
| Wars1 |
C |
T |
12: 108,841,119 (GRCm39) |
V220I |
probably benign |
Het |
| Washc1 |
T |
A |
17: 66,423,714 (GRCm39) |
D212E |
possibly damaging |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Wdr43 |
A |
G |
17: 71,933,820 (GRCm39) |
D139G |
probably benign |
Het |
| Zfp235 |
A |
T |
7: 23,836,556 (GRCm39) |
H34L |
possibly damaging |
Het |
| Zkscan16 |
G |
A |
4: 58,952,391 (GRCm39) |
V230I |
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 |
|
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'- ATAGGTTGCCCCATGTCCATCAGG -3'
(R):5'- TGTAGTGTGCAAAAGTGACAGTCCC -3'
Sequencing Primer
(F):5'- CTCAGATGACAACCAGGGTATTCAG -3'
(R):5'- CATCCCATTGTGAGGTTGTGATC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation