Incidental Mutation 'R4789:Gm14496'
ID |
367300 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm14496
|
Ensembl Gene |
ENSMUSG00000098505 |
Gene Name |
predicted gene 14496 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4789 (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 181637577 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 217
(Q217L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071760]
|
AlphaFold |
K7N5U4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071760
AA Change: Q217L
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000071670 Gene: ENSMUSG00000098505 AA Change: Q217L
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: 98.8%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110004F10Rik |
C |
A |
7: 115,692,757 (GRCm39) |
D20E |
probably benign |
Het |
Abcb9 |
T |
A |
5: 124,216,853 (GRCm39) |
M455L |
probably benign |
Het |
Add2 |
G |
A |
6: 86,095,752 (GRCm39) |
V475M |
probably benign |
Het |
Apoh |
T |
A |
11: 108,300,064 (GRCm39) |
Y238N |
probably damaging |
Het |
Arpp21 |
A |
G |
9: 111,896,360 (GRCm39) |
S681P |
probably benign |
Het |
Atp1a3 |
A |
C |
7: 24,698,389 (GRCm39) |
F149C |
probably damaging |
Het |
B9d1 |
A |
G |
11: 61,397,186 (GRCm39) |
D27G |
probably benign |
Het |
Bfar |
T |
A |
16: 13,503,001 (GRCm39) |
M1K |
probably null |
Het |
Bok |
T |
C |
1: 93,616,963 (GRCm39) |
V103A |
probably damaging |
Het |
Brca1 |
A |
C |
11: 101,414,758 (GRCm39) |
H1125Q |
probably benign |
Het |
Card9 |
T |
A |
2: 26,247,632 (GRCm39) |
M218L |
probably damaging |
Het |
Cers1 |
T |
C |
8: 70,776,018 (GRCm39) |
V303A |
probably damaging |
Het |
Col6a5 |
T |
C |
9: 105,814,534 (GRCm39) |
I493V |
unknown |
Het |
Coro7 |
T |
C |
16: 4,446,085 (GRCm39) |
Y880C |
probably damaging |
Het |
Cyp2b19 |
T |
C |
7: 26,463,801 (GRCm39) |
Y318H |
probably benign |
Het |
Dennd3 |
T |
A |
15: 73,394,131 (GRCm39) |
L52Q |
probably damaging |
Het |
Dlat |
A |
T |
9: 50,570,670 (GRCm39) |
C33S |
probably benign |
Het |
Dmxl2 |
T |
A |
9: 54,287,099 (GRCm39) |
Q2646L |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,610,295 (GRCm39) |
N1703D |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,518,998 (GRCm39) |
H1241L |
probably damaging |
Het |
Fbxl17 |
T |
G |
17: 63,794,910 (GRCm39) |
I391L |
probably benign |
Het |
Fdxacb1 |
A |
G |
9: 50,681,418 (GRCm39) |
D113G |
possibly damaging |
Het |
Flii |
A |
G |
11: 60,605,919 (GRCm39) |
S1185P |
probably benign |
Het |
Heatr9 |
A |
T |
11: 83,410,018 (GRCm39) |
D74E |
probably benign |
Het |
Heca |
C |
A |
10: 17,783,895 (GRCm39) |
E91* |
probably null |
Het |
Ikzf4 |
T |
G |
10: 128,468,575 (GRCm39) |
T635P |
probably benign |
Het |
Kif17 |
C |
T |
4: 138,008,688 (GRCm39) |
P382S |
probably damaging |
Het |
Kmt5b |
T |
C |
19: 3,865,330 (GRCm39) |
V775A |
probably benign |
Het |
Mapk8ip2 |
T |
A |
15: 89,343,241 (GRCm39) |
F661Y |
probably damaging |
Het |
Mapkap1 |
A |
G |
2: 34,423,859 (GRCm39) |
E111G |
possibly damaging |
Het |
Med9 |
T |
A |
11: 59,839,266 (GRCm39) |
N58K |
probably benign |
Het |
Mid2 |
T |
A |
X: 139,578,981 (GRCm39) |
Y61N |
probably damaging |
Het |
Mief1 |
T |
A |
15: 80,132,080 (GRCm39) |
Y50* |
probably null |
Het |
Mios |
T |
C |
6: 8,235,429 (GRCm39) |
M859T |
probably benign |
Het |
Muc5ac |
G |
T |
7: 141,352,619 (GRCm39) |
C702F |
possibly damaging |
Het |
Nkiras1 |
T |
C |
14: 18,276,935 (GRCm38) |
|
probably benign |
Het |
Or11i1 |
A |
C |
3: 106,729,608 (GRCm39) |
I89R |
possibly damaging |
Het |
Or11i1 |
T |
A |
3: 106,729,624 (GRCm39) |
M84L |
possibly damaging |
Het |
Or56a3b |
T |
G |
7: 104,771,520 (GRCm39) |
H285Q |
probably null |
Het |
Or5ae2 |
T |
A |
7: 84,506,509 (GRCm39) |
C311S |
probably benign |
Het |
Pcsk5 |
C |
T |
19: 17,410,963 (GRCm39) |
V1810M |
probably benign |
Het |
Pex1 |
T |
C |
5: 3,680,270 (GRCm39) |
V964A |
probably damaging |
Het |
Pgm2l1 |
A |
T |
7: 99,916,794 (GRCm39) |
M471L |
probably benign |
Het |
Pkd1l2 |
T |
C |
8: 117,738,314 (GRCm39) |
T2182A |
probably damaging |
Het |
Plscr1l1 |
G |
A |
9: 92,233,084 (GRCm39) |
C69Y |
probably damaging |
Het |
Polr1b |
T |
A |
2: 128,951,257 (GRCm39) |
I290K |
probably benign |
Het |
Prkg1 |
T |
A |
19: 31,563,045 (GRCm39) |
M119L |
probably damaging |
Het |
Rbl1 |
A |
G |
2: 157,019,275 (GRCm39) |
V490A |
probably benign |
Het |
Shtn1 |
G |
C |
19: 59,039,305 (GRCm39) |
R45G |
probably damaging |
Het |
Slc10a6 |
T |
A |
5: 103,776,848 (GRCm39) |
Y84F |
probably benign |
Het |
Slc25a23 |
T |
C |
17: 57,366,597 (GRCm39) |
D26G |
probably damaging |
Het |
Slc41a2 |
T |
C |
10: 83,152,320 (GRCm39) |
K52E |
probably damaging |
Het |
Slc4a5 |
T |
C |
6: 83,247,951 (GRCm39) |
F501L |
probably benign |
Het |
Slfn5 |
T |
A |
11: 82,847,226 (GRCm39) |
M37K |
probably benign |
Het |
Sptbn1 |
A |
C |
11: 30,067,759 (GRCm39) |
F1818L |
probably benign |
Het |
Taf3 |
T |
C |
2: 9,956,770 (GRCm39) |
T466A |
probably damaging |
Het |
Thbs2 |
C |
T |
17: 14,891,750 (GRCm39) |
G929D |
probably damaging |
Het |
Tmc3 |
A |
T |
7: 83,271,746 (GRCm39) |
D995V |
probably damaging |
Het |
Tmem262 |
T |
C |
19: 6,130,452 (GRCm39) |
F59L |
possibly damaging |
Het |
Triobp |
A |
G |
15: 78,875,228 (GRCm39) |
D137G |
probably damaging |
Het |
Tspear |
T |
C |
10: 77,702,199 (GRCm39) |
F211L |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,728,670 (GRCm39) |
|
probably benign |
Het |
Ugt2b5 |
T |
A |
5: 87,287,550 (GRCm39) |
M206L |
probably benign |
Het |
Ush1g |
A |
T |
11: 115,209,466 (GRCm39) |
S243T |
probably damaging |
Het |
Usp19 |
A |
T |
9: 108,370,433 (GRCm39) |
T86S |
possibly damaging |
Het |
Wdhd1 |
A |
G |
14: 47,506,149 (GRCm39) |
V255A |
probably benign |
Het |
Wdr11 |
G |
A |
7: 129,220,394 (GRCm39) |
W594* |
probably null |
Het |
Wnk3 |
T |
A |
X: 149,993,933 (GRCm39) |
Y331* |
probably null |
Het |
Zfp429 |
A |
T |
13: 67,538,523 (GRCm39) |
I307K |
probably benign |
Het |
Zkscan14 |
T |
A |
5: 145,132,444 (GRCm39) |
K362N |
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 |
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'- ACCAGGAGTTCTGAAAGGTG -3'
(R):5'- CCCATTGTGAGGTTGTGATCC -3'
Sequencing Primer
(F):5'- GTTCTGAAAGGTGAGTAGCATTAC -3'
(R):5'- TTCTAGAGTAGAGTTCATGTCACC -3'
|
Posted On |
2015-12-29 |