Incidental Mutation 'R9499:Gm14496'
| ID |
717413 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14496
|
| Ensembl Gene |
ENSMUSG00000098505 |
| Gene Name |
predicted gene 14496 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9499 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181633019-181642880 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 181638179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 418
(K418E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071760]
|
| AlphaFold |
K7N5U4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071760
AA Change: K418E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000071670
Gene: ENSMUSG00000098505
AA Change: K418E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd6 |
T |
C |
14: 8,028,329 (GRCm38) |
I20T |
possibly damaging |
Het |
| Apoa5 |
G |
C |
9: 46,181,944 (GRCm39) |
R340P |
probably damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,886,397 (GRCm39) |
V270E |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,526,102 (GRCm39) |
M851V |
possibly damaging |
Het |
| Arhgef5 |
A |
T |
6: 43,260,940 (GRCm39) |
H1455L |
|
Het |
| Birc6 |
T |
A |
17: 74,916,064 (GRCm39) |
L1660Q |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cep120 |
C |
A |
18: 53,819,033 (GRCm39) |
R886L |
possibly damaging |
Het |
| Cep290 |
T |
C |
10: 100,372,729 (GRCm39) |
S1176P |
probably damaging |
Het |
| Cyp2j7 |
C |
T |
4: 96,115,840 (GRCm39) |
R202H |
probably damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Depdc7 |
C |
T |
2: 104,553,220 (GRCm39) |
|
probably null |
Het |
| Dnaaf11 |
T |
C |
15: 66,361,483 (GRCm39) |
E6G |
probably damaging |
Het |
| Erbb4 |
G |
A |
1: 68,779,642 (GRCm39) |
Q45* |
probably null |
Het |
| Ercc6 |
C |
T |
14: 32,284,525 (GRCm39) |
R763C |
probably damaging |
Het |
| Gm14401 |
C |
T |
2: 176,778,337 (GRCm39) |
A141V |
probably benign |
Het |
| Gm8159 |
T |
A |
14: 15,850,264 (GRCm39) |
I161K |
probably damaging |
Het |
| Hnrnpk |
A |
G |
13: 58,544,058 (GRCm39) |
S116P |
probably benign |
Het |
| Hs3st6 |
T |
C |
17: 24,977,228 (GRCm39) |
L236P |
probably damaging |
Het |
| Il15 |
T |
A |
8: 83,061,177 (GRCm39) |
H100L |
probably benign |
Het |
| Inpp5f |
A |
T |
7: 128,295,437 (GRCm39) |
I744F |
possibly damaging |
Het |
| Kif14 |
C |
A |
1: 136,455,219 (GRCm39) |
S1630R |
probably damaging |
Het |
| Madd |
T |
C |
2: 91,000,434 (GRCm39) |
T544A |
probably damaging |
Het |
| Mbl2 |
G |
A |
19: 30,216,664 (GRCm39) |
A159T |
probably damaging |
Het |
| Mfsd9 |
T |
C |
1: 40,813,152 (GRCm39) |
T388A |
probably damaging |
Het |
| Mtor |
C |
T |
4: 148,599,397 (GRCm39) |
R1482C |
probably damaging |
Het |
| Myh11 |
T |
A |
16: 14,064,673 (GRCm39) |
E215V |
|
Het |
| Nmd3 |
T |
C |
3: 69,647,329 (GRCm39) |
V277A |
possibly damaging |
Het |
| Nr2e1 |
A |
T |
10: 42,447,487 (GRCm39) |
M175K |
probably benign |
Het |
| Nrxn1 |
T |
C |
17: 90,937,450 (GRCm39) |
K669R |
probably damaging |
Het |
| Patl1 |
T |
A |
19: 11,897,728 (GRCm39) |
M105K |
possibly damaging |
Het |
| Pck2 |
T |
A |
14: 55,780,081 (GRCm39) |
I110N |
probably damaging |
Het |
| Pdzrn3 |
T |
C |
6: 101,127,855 (GRCm39) |
D937G |
probably damaging |
Het |
| Phb1 |
G |
A |
11: 95,562,257 (GRCm39) |
V45I |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,125,574 (GRCm39) |
E1187G |
|
Het |
| Piezo2 |
T |
C |
18: 63,166,033 (GRCm39) |
E2066G |
possibly damaging |
Het |
| Plin1 |
T |
C |
7: 79,372,544 (GRCm39) |
N343D |
probably benign |
Het |
| Polr1b |
C |
T |
2: 128,957,684 (GRCm39) |
R580* |
probably null |
Het |
| Rexo5 |
A |
G |
7: 119,404,480 (GRCm39) |
E192G |
probably damaging |
Het |
| Rpain |
T |
C |
11: 70,865,816 (GRCm39) |
S194P |
probably damaging |
Het |
| Slco6c1 |
T |
C |
1: 97,055,827 (GRCm39) |
S25G |
probably benign |
Het |
| Slitrk5 |
C |
T |
14: 111,916,496 (GRCm39) |
T40I |
probably benign |
Het |
| Slu7 |
G |
A |
11: 43,329,095 (GRCm39) |
V106I |
probably benign |
Het |
| Ssb |
T |
A |
2: 69,696,982 (GRCm39) |
D107E |
probably benign |
Het |
| Stc2 |
A |
G |
11: 31,310,332 (GRCm39) |
S235P |
probably benign |
Het |
| Sult2a8 |
A |
C |
7: 14,157,487 (GRCm39) |
V116G |
probably damaging |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
T |
C |
14: 55,950,933 (GRCm39) |
|
probably benign |
Het |
| Tle5 |
T |
C |
10: 81,399,988 (GRCm39) |
V62A |
probably damaging |
Het |
| Trf |
C |
T |
9: 103,099,283 (GRCm39) |
V339I |
probably benign |
Het |
| Ucp1 |
T |
C |
8: 84,024,509 (GRCm39) |
L278P |
probably damaging |
Het |
| Vmn1r24 |
T |
A |
6: 57,933,150 (GRCm39) |
I123F |
possibly damaging |
Het |
| Vmn2r9 |
T |
A |
5: 108,995,584 (GRCm39) |
N355Y |
probably damaging |
Het |
| Yipf4 |
T |
C |
17: 74,806,024 (GRCm39) |
F221S |
probably damaging |
Het |
| Zfp1005 |
C |
A |
2: 150,109,856 (GRCm39) |
T182K |
unknown |
Het |
| Zfp595 |
A |
T |
13: 67,465,067 (GRCm39) |
S402T |
probably damaging |
Het |
| Zfp710 |
A |
G |
7: 79,731,621 (GRCm39) |
E266G |
probably damaging |
Het |
| Zfp827 |
T |
G |
8: 79,787,403 (GRCm39) |
W190G |
probably damaging |
Het |
| Zscan4c |
T |
C |
7: 10,740,853 (GRCm39) |
V124A |
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 |
|
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 |
|
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'- GTTCAAGCTCTAAGAACAGCAG -3'
(R):5'- TGGTGAAATGTTGAGACACCTTTTC -3'
Sequencing Primer
(F):5'- CTCTAAGAACAGCAGTAAAATGGATC -3'
(R):5'- AAAGACTCATTAGGGCGTTTTGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation