Incidental Mutation 'R6007:Gm14496'
ID |
479526 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm14496
|
Ensembl Gene |
ENSMUSG00000098505 |
Gene Name |
predicted gene 14496 |
Synonyms |
|
MMRRC Submission |
044184-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6007 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
181633019-181642880 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 181639323 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 471
(Q471R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071760]
|
AlphaFold |
K7N5U4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071760
AA Change: Q471R
PolyPhen 2
Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000071670 Gene: ENSMUSG00000098505 AA Change: Q471R
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: 99.9%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.6%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
G |
T |
6: 83,137,900 (GRCm39) |
A9S |
possibly damaging |
Het |
4930407I10Rik |
C |
G |
15: 81,946,940 (GRCm39) |
T279S |
probably benign |
Het |
A830018L16Rik |
A |
G |
1: 11,582,140 (GRCm39) |
|
probably null |
Het |
Abcg5 |
T |
G |
17: 84,976,392 (GRCm39) |
I482L |
probably benign |
Het |
Adgrf5 |
T |
A |
17: 43,748,462 (GRCm39) |
D44E |
probably damaging |
Het |
Amh |
A |
G |
10: 80,641,305 (GRCm39) |
N75S |
probably benign |
Het |
Arl8a |
T |
C |
1: 135,080,606 (GRCm39) |
|
probably null |
Het |
Bpifb4 |
T |
C |
2: 153,784,480 (GRCm39) |
Y63H |
possibly damaging |
Het |
Chd5 |
A |
T |
4: 152,463,878 (GRCm39) |
E1449V |
probably null |
Het |
Chml |
A |
G |
1: 175,515,594 (GRCm39) |
V109A |
probably benign |
Het |
Crybg3 |
G |
T |
16: 59,374,837 (GRCm39) |
S2139* |
probably null |
Het |
Cyp2c68 |
T |
C |
19: 39,722,780 (GRCm39) |
D256G |
probably damaging |
Het |
Dchs2 |
G |
T |
3: 83,253,534 (GRCm39) |
V2315L |
probably damaging |
Het |
Ddx20 |
T |
C |
3: 105,590,736 (GRCm39) |
I227V |
possibly damaging |
Het |
Drg2 |
T |
C |
11: 60,353,451 (GRCm39) |
V266A |
possibly damaging |
Het |
Flcn |
C |
A |
11: 59,683,448 (GRCm39) |
E576D |
probably benign |
Het |
Fstl5 |
T |
A |
3: 76,317,899 (GRCm39) |
D188E |
probably damaging |
Het |
Gm43772 |
T |
C |
5: 66,332,334 (GRCm39) |
|
probably benign |
Het |
Gpc6 |
C |
T |
14: 118,188,673 (GRCm39) |
H436Y |
probably damaging |
Het |
Gpr179 |
A |
T |
11: 97,226,628 (GRCm39) |
C1842* |
probably null |
Het |
Ints8 |
G |
A |
4: 11,208,845 (GRCm39) |
T934I |
possibly damaging |
Het |
Iqsec1 |
G |
T |
6: 90,637,969 (GRCm39) |
C1050* |
probably null |
Het |
Larp4b |
T |
C |
13: 9,218,793 (GRCm39) |
V510A |
probably benign |
Het |
Map3k13 |
A |
T |
16: 21,723,933 (GRCm39) |
D305V |
possibly damaging |
Het |
Mc5r |
A |
T |
18: 68,472,318 (GRCm39) |
I226F |
possibly damaging |
Het |
Mme |
G |
A |
3: 63,250,929 (GRCm39) |
W323* |
probably null |
Het |
Mrpl24 |
A |
G |
3: 87,829,705 (GRCm39) |
Y97C |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,965,749 (GRCm39) |
S541N |
probably benign |
Het |
Npepl1 |
T |
C |
2: 173,962,850 (GRCm39) |
V412A |
probably benign |
Het |
Nrg3 |
T |
A |
14: 39,194,409 (GRCm39) |
K117* |
probably null |
Het |
Or11j4 |
G |
T |
14: 50,630,948 (GRCm39) |
C245F |
probably damaging |
Het |
Or4f52 |
T |
C |
2: 111,061,275 (GRCm39) |
T288A |
probably benign |
Het |
Orc2 |
A |
T |
1: 58,506,851 (GRCm39) |
M447K |
probably benign |
Het |
Phf3 |
A |
T |
1: 30,843,426 (GRCm39) |
H1844Q |
probably damaging |
Het |
Plxnc1 |
T |
C |
10: 94,629,152 (GRCm39) |
I1541V |
possibly damaging |
Het |
Rapgef4 |
T |
C |
2: 72,010,293 (GRCm39) |
Y284H |
possibly damaging |
Het |
Rnf180 |
C |
A |
13: 105,317,957 (GRCm39) |
|
probably null |
Het |
Secisbp2 |
T |
C |
13: 51,819,395 (GRCm39) |
I325T |
probably damaging |
Het |
Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
Slc4a10 |
A |
G |
2: 62,099,216 (GRCm39) |
M625V |
probably benign |
Het |
Synpo |
T |
A |
18: 60,736,687 (GRCm39) |
M420L |
probably benign |
Het |
Tmem116 |
A |
C |
5: 121,655,955 (GRCm39) |
*147C |
probably null |
Het |
Top2b |
G |
A |
14: 16,423,779 (GRCm38) |
|
probably null |
Het |
Trp53bp2 |
T |
A |
1: 182,283,305 (GRCm39) |
C1014S |
probably damaging |
Het |
Unc5b |
A |
G |
10: 60,601,139 (GRCm39) |
F896L |
probably damaging |
Het |
Vil1 |
T |
C |
1: 74,459,026 (GRCm39) |
W177R |
probably damaging |
Het |
Vmn2r107 |
A |
T |
17: 20,595,316 (GRCm39) |
Y623F |
probably benign |
Het |
Vmn2r86 |
T |
C |
10: 130,289,535 (GRCm39) |
Y120C |
probably damaging |
Het |
Wdr18 |
A |
G |
10: 79,801,177 (GRCm39) |
T197A |
possibly damaging |
Het |
Ylpm1 |
A |
G |
12: 85,076,064 (GRCm39) |
M472V |
probably benign |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zfp677 |
A |
G |
17: 21,617,918 (GRCm39) |
Y325C |
probably damaging |
Het |
Zfyve1 |
A |
G |
12: 83,605,478 (GRCm39) |
F407S |
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 |
R5589:Gm14496
|
UTSW |
2 |
181,637,674 (GRCm39) |
nonsense |
probably null |
|
R5655:Gm14496
|
UTSW |
2 |
181,637,975 (GRCm39) |
missense |
probably benign |
0.06 |
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'- GGGGAATTCTCAATTTTGCATTCC -3'
(R):5'- CACAGAATCAGAAAATTCCATGGGC -3'
Sequencing Primer
(F):5'- CCCTTTACTGATATGCATACGTAAGC -3'
(R):5'- TGGAATCCAGAGACCATTGATC -3'
|
Posted On |
2017-06-26 |