Incidental Mutation 'R5361:Gm14496'
ID |
422792 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm14496
|
Ensembl Gene |
ENSMUSG00000098505 |
Gene Name |
predicted gene 14496 |
Synonyms |
|
MMRRC Submission |
042940-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5361 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
181633019-181642880 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 181642147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 606
(V606G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071760]
|
AlphaFold |
K7N5U4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071760
AA Change: V606G
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000071670 Gene: ENSMUSG00000098505 AA Change: V606G
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: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
T |
A |
9: 57,164,468 (GRCm39) |
K635N |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,992,705 (GRCm39) |
M4663K |
possibly damaging |
Het |
C4b |
T |
A |
17: 34,960,212 (GRCm39) |
T280S |
probably benign |
Het |
Ccdc166 |
A |
G |
15: 75,852,869 (GRCm39) |
V366A |
probably benign |
Het |
Cdh23 |
A |
G |
10: 60,493,044 (GRCm39) |
|
probably null |
Het |
Col7a1 |
A |
G |
9: 108,792,292 (GRCm39) |
T1281A |
unknown |
Het |
Cul9 |
TTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTC |
17: 46,811,775 (GRCm39) |
|
probably benign |
Het |
Dbndd1 |
T |
A |
8: 124,233,484 (GRCm39) |
D127V |
probably damaging |
Het |
Ddx20 |
T |
A |
3: 105,590,825 (GRCm39) |
E197V |
probably damaging |
Het |
Dennd10 |
A |
G |
19: 60,814,324 (GRCm39) |
M96V |
probably benign |
Het |
Dnm3 |
A |
G |
1: 161,838,471 (GRCm39) |
S826P |
probably damaging |
Het |
Dnmt3a |
T |
C |
12: 3,945,643 (GRCm39) |
V24A |
probably benign |
Het |
Dop1b |
C |
A |
16: 93,567,392 (GRCm39) |
A1273E |
probably damaging |
Het |
Dsg1c |
T |
C |
18: 20,416,703 (GRCm39) |
V868A |
possibly damaging |
Het |
Dtx4 |
A |
G |
19: 12,462,626 (GRCm39) |
|
probably null |
Het |
Elovl4 |
A |
G |
9: 83,672,154 (GRCm39) |
L55P |
possibly damaging |
Het |
Fbxo40 |
T |
A |
16: 36,789,914 (GRCm39) |
T399S |
possibly damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Gm14399 |
T |
C |
2: 174,973,371 (GRCm39) |
E96G |
probably damaging |
Het |
Gpr156 |
A |
G |
16: 37,826,087 (GRCm39) |
E768G |
probably damaging |
Het |
Grm5 |
A |
T |
7: 87,723,704 (GRCm39) |
T665S |
probably damaging |
Het |
Hsdl2 |
A |
G |
4: 59,592,301 (GRCm39) |
|
probably benign |
Het |
Htt |
T |
C |
5: 35,064,928 (GRCm39) |
V3047A |
possibly damaging |
Het |
Igkv3-2 |
A |
T |
6: 70,676,011 (GRCm39) |
T107S |
probably benign |
Het |
Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
Itih2 |
T |
A |
2: 10,101,272 (GRCm39) |
T899S |
probably benign |
Het |
Lhcgr |
T |
A |
17: 89,050,281 (GRCm39) |
Y415F |
probably damaging |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Med4 |
C |
A |
14: 73,747,553 (GRCm39) |
S18* |
probably null |
Het |
Nefl |
T |
C |
14: 68,322,088 (GRCm39) |
V226A |
probably damaging |
Het |
Nploc4 |
T |
A |
11: 120,275,389 (GRCm39) |
N516Y |
probably damaging |
Het |
Or1o4 |
A |
G |
17: 37,590,501 (GRCm39) |
V270A |
probably benign |
Het |
Or6c66 |
A |
T |
10: 129,461,601 (GRCm39) |
F110I |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pcdha3 |
T |
G |
18: 37,079,752 (GRCm39) |
L165V |
possibly damaging |
Het |
Pcdhb12 |
T |
A |
18: 37,570,099 (GRCm39) |
V415D |
probably damaging |
Het |
Pcdhga10 |
T |
C |
18: 37,880,503 (GRCm39) |
I88T |
probably damaging |
Het |
Pigyl |
T |
A |
9: 22,069,292 (GRCm39) |
M1K |
probably null |
Het |
Prr27 |
T |
C |
5: 87,991,203 (GRCm39) |
S272P |
probably damaging |
Het |
Prss3 |
C |
T |
6: 41,350,780 (GRCm39) |
D237N |
probably benign |
Het |
Pstpip2 |
A |
G |
18: 77,958,078 (GRCm39) |
D150G |
probably damaging |
Het |
Robo4 |
T |
A |
9: 37,324,674 (GRCm39) |
D909E |
probably benign |
Het |
Serpinb3c |
A |
T |
1: 107,204,661 (GRCm39) |
Y28* |
probably null |
Het |
Slc26a3 |
T |
C |
12: 31,500,980 (GRCm39) |
|
probably null |
Het |
Slc6a1 |
A |
T |
6: 114,279,493 (GRCm39) |
I91F |
probably benign |
Het |
Smcr8 |
T |
G |
11: 60,669,118 (GRCm39) |
Y89D |
probably damaging |
Het |
Sspo |
T |
A |
6: 48,443,247 (GRCm39) |
M1898K |
probably benign |
Het |
Tbl1xr1 |
T |
A |
3: 22,246,233 (GRCm39) |
I251K |
probably damaging |
Het |
Thbs4 |
C |
T |
13: 92,913,501 (GRCm39) |
D140N |
probably benign |
Het |
Tmbim6 |
G |
A |
15: 99,303,633 (GRCm39) |
A108T |
probably benign |
Het |
Trim10 |
T |
G |
17: 37,186,328 (GRCm39) |
L301R |
probably benign |
Het |
Trpm7 |
A |
T |
2: 126,671,161 (GRCm39) |
I607N |
possibly damaging |
Het |
Vmn2r9 |
T |
A |
5: 108,995,929 (GRCm39) |
I240F |
probably damaging |
Het |
Xpot |
T |
A |
10: 121,436,765 (GRCm39) |
I873F |
possibly damaging |
Het |
Zfhx4 |
G |
A |
3: 5,464,267 (GRCm39) |
S1475N |
probably damaging |
Het |
Zfp712 |
A |
G |
13: 67,189,079 (GRCm39) |
S483P |
possibly damaging |
Het |
Zswim7 |
A |
T |
11: 62,158,373 (GRCm39) |
H122Q |
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 |
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 |
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'- GGGTTTATTGACATTTGCCAGCAG -3'
(R):5'- ACCACGGTTATTGTTTTGGC -3'
Sequencing Primer
(F):5'- TGACATTTGCCAGCAGATATGG -3'
(R):5'- ACGGTTATTGTTTTGGCCAACAC -3'
|
Posted On |
2016-08-04 |