Incidental Mutation 'R7669:Gm14496'
| ID |
592027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14496
|
| Ensembl Gene |
ENSMUSG00000098505 |
| Gene Name |
predicted gene 14496 |
| Synonyms |
|
| MMRRC Submission |
045741-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7669 (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 181637711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 262
(T262A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071760]
|
| AlphaFold |
K7N5U4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071760
AA Change: T262A
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000071670
Gene: ENSMUSG00000098505
AA Change: T262A
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
C |
T |
17: 45,831,221 (GRCm39) |
P930S |
probably benign |
Het |
| Ada |
T |
A |
2: 163,570,111 (GRCm39) |
K301* |
probably null |
Het |
| Alb |
T |
C |
5: 90,611,850 (GRCm39) |
L93P |
possibly damaging |
Het |
| Aldh1l1 |
G |
A |
6: 90,547,844 (GRCm39) |
G435S |
probably benign |
Het |
| Alox12b |
A |
T |
11: 69,060,167 (GRCm39) |
I627F |
probably benign |
Het |
| Aloxe3 |
A |
G |
11: 69,025,946 (GRCm39) |
I503V |
probably benign |
Het |
| Arhgap29 |
C |
T |
3: 121,786,461 (GRCm39) |
A342V |
probably damaging |
Het |
| BC024139 |
G |
A |
15: 76,004,768 (GRCm39) |
P636L |
possibly damaging |
Het |
| Bmp6 |
G |
T |
13: 38,668,896 (GRCm39) |
R293L |
probably damaging |
Het |
| Cfd |
G |
A |
10: 79,727,447 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,967,273 (GRCm39) |
A3197T |
probably damaging |
Het |
| Flii |
G |
A |
11: 60,613,490 (GRCm39) |
L166F |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,195,822 (GRCm39) |
N507K |
unknown |
Het |
| Foxe1 |
C |
A |
4: 46,344,545 (GRCm39) |
R118S |
possibly damaging |
Het |
| Fras1 |
T |
C |
5: 96,840,483 (GRCm39) |
V1646A |
probably benign |
Het |
| Gpbp1 |
A |
T |
13: 111,575,658 (GRCm39) |
S282T |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,462,029 (GRCm39) |
N641K |
probably damaging |
Het |
| Grin2a |
T |
G |
16: 9,810,327 (GRCm39) |
N24T |
probably benign |
Het |
| Gstm2 |
T |
G |
3: 107,892,992 (GRCm39) |
D40A |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,426,143 (GRCm39) |
I657N |
probably benign |
Het |
| Kmt2b |
T |
C |
7: 30,282,656 (GRCm39) |
E1102G |
possibly damaging |
Het |
| Macroh2a1 |
T |
C |
13: 56,276,146 (GRCm39) |
Y39C |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,635,944 (GRCm39) |
N366K |
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,385,510 (GRCm39) |
V35E |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,161,224 (GRCm39) |
F381S |
possibly damaging |
Het |
| Mroh1 |
A |
G |
15: 76,336,048 (GRCm39) |
H1474R |
possibly damaging |
Het |
| Mtrf1l |
G |
T |
10: 5,765,620 (GRCm39) |
A239E |
probably damaging |
Het |
| Nbea |
G |
T |
3: 55,625,200 (GRCm39) |
A2297E |
probably damaging |
Het |
| Nectin4 |
A |
G |
1: 171,207,827 (GRCm39) |
E73G |
probably benign |
Het |
| Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
| Nfia |
G |
A |
4: 97,671,742 (GRCm39) |
V151I |
probably damaging |
Het |
| Nol6 |
A |
G |
4: 41,118,717 (GRCm39) |
L720P |
probably damaging |
Het |
| Or6c203 |
A |
G |
10: 129,010,128 (GRCm39) |
F254S |
probably damaging |
Het |
| Or7e165 |
A |
G |
9: 19,694,839 (GRCm39) |
N137D |
possibly damaging |
Het |
| Patj |
A |
G |
4: 98,407,179 (GRCm39) |
E1054G |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,037,325 (GRCm39) |
D1861G |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,241,045 (GRCm39) |
T80A |
probably benign |
Het |
| Scart2 |
A |
G |
7: 139,876,234 (GRCm39) |
S569G |
possibly damaging |
Het |
| Sgsm1 |
C |
A |
5: 113,400,890 (GRCm39) |
R1000L |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,935,516 (GRCm39) |
D199G |
possibly damaging |
Het |
| Suox |
T |
C |
10: 128,506,780 (GRCm39) |
D416G |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,011,531 (GRCm39) |
T38M |
probably damaging |
Het |
| Tcf7l2 |
T |
A |
19: 55,912,975 (GRCm39) |
C421* |
probably null |
Het |
| Tex55 |
C |
T |
16: 38,648,453 (GRCm39) |
D219N |
possibly damaging |
Het |
| Traf7 |
C |
A |
17: 24,732,282 (GRCm39) |
G143* |
probably null |
Het |
| Trappc12 |
T |
C |
12: 28,761,957 (GRCm39) |
I544V |
probably benign |
Het |
| Trmt1 |
G |
A |
8: 85,424,180 (GRCm39) |
V434I |
probably benign |
Het |
| Ttc5 |
T |
C |
14: 51,014,787 (GRCm39) |
H160R |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,342,521 (GRCm39) |
H1587Q |
probably benign |
Het |
| Zfp523 |
C |
T |
17: 28,420,015 (GRCm39) |
T220M |
probably damaging |
Het |
| Zfp804b |
A |
T |
5: 6,819,362 (GRCm39) |
S1234T |
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 |
|
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 |
|
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'- GACTCACATTTGTCCCATGGC -3'
(R):5'- GTGCAAAAGTGACAGTCCCATG -3'
Sequencing Primer
(F):5'- CCATGGCATGGTCTCCTTGATG -3'
(R):5'- TGACAGTCCCATGGAAAAGATTAAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation