Incidental Mutation 'R7565:Gm14496'
| ID |
585356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14496
|
| Ensembl Gene |
ENSMUSG00000098505 |
| Gene Name |
predicted gene 14496 |
| Synonyms |
|
| MMRRC Submission |
045710-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7565 (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 181642630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 767
(N767S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071760]
|
| AlphaFold |
K7N5U4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071760
AA Change: N767S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000071670
Gene: ENSMUSG00000098505
AA Change: N767S
| 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: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,452,750 (GRCm39) |
Y63F |
possibly damaging |
Het |
| Abi1 |
A |
T |
2: 22,836,596 (GRCm39) |
I421N |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,993,520 (GRCm39) |
I4935V |
probably benign |
Het |
| Atg12 |
A |
C |
18: 46,867,551 (GRCm39) |
V131G |
probably damaging |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG |
TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG |
3: 95,795,456 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT |
CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT |
3: 95,795,450 (GRCm39) |
|
probably benign |
Het |
| Bcl3 |
C |
T |
7: 19,546,419 (GRCm39) |
V139I |
probably damaging |
Het |
| Bloc1s4 |
T |
A |
5: 36,905,689 (GRCm39) |
M101L |
probably benign |
Het |
| Bmp6 |
C |
T |
13: 38,530,233 (GRCm39) |
Q109* |
probably null |
Het |
| Cabyr |
C |
T |
18: 12,877,656 (GRCm39) |
T28I |
possibly damaging |
Het |
| Catsper3 |
T |
C |
13: 55,932,538 (GRCm39) |
S22P |
probably benign |
Het |
| Catsperg2 |
A |
T |
7: 29,412,406 (GRCm39) |
C395S |
probably null |
Het |
| Cd101 |
T |
C |
3: 100,926,108 (GRCm39) |
T208A |
probably benign |
Het |
| Chaf1a |
A |
G |
17: 56,371,148 (GRCm39) |
S678G |
probably benign |
Het |
| Chrna2 |
A |
C |
14: 66,388,484 (GRCm39) |
I500L |
probably benign |
Het |
| Cln6 |
C |
T |
9: 62,758,039 (GRCm39) |
T266I |
possibly damaging |
Het |
| Col17a1 |
T |
A |
19: 47,659,963 (GRCm39) |
T330S |
possibly damaging |
Het |
| Cyp2d40 |
A |
G |
15: 82,644,975 (GRCm39) |
V225A |
unknown |
Het |
| Dnah10 |
A |
G |
5: 124,876,095 (GRCm39) |
N2645D |
probably damaging |
Het |
| Dph5 |
T |
A |
3: 115,686,446 (GRCm39) |
V74D |
probably benign |
Het |
| Dthd1 |
A |
T |
5: 63,000,435 (GRCm39) |
I586L |
probably damaging |
Het |
| Elane |
G |
A |
10: 79,722,879 (GRCm39) |
R95Q |
probably benign |
Het |
| Fbxw17 |
A |
G |
13: 50,587,398 (GRCm39) |
T453A |
probably damaging |
Het |
| Fpr3 |
C |
A |
17: 18,191,227 (GRCm39) |
T166K |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,191,063 (GRCm39) |
I2724T |
probably benign |
Het |
| Fsip2 |
C |
T |
2: 82,779,856 (GRCm39) |
R201C |
probably damaging |
Het |
| Hyal4 |
T |
A |
6: 24,765,933 (GRCm39) |
M429K |
possibly damaging |
Het |
| Itgad |
A |
T |
7: 127,782,187 (GRCm39) |
T208S |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,329,862 (GRCm39) |
L1552R |
probably benign |
Het |
| Kcp |
C |
T |
6: 29,499,186 (GRCm39) |
C292Y |
probably damaging |
Het |
| Kdr |
T |
C |
5: 76,109,503 (GRCm39) |
K958R |
probably damaging |
Het |
| Klhl22 |
T |
A |
16: 17,607,148 (GRCm39) |
W485R |
probably damaging |
Het |
| Ldhb |
T |
A |
6: 142,438,245 (GRCm39) |
I271F |
possibly damaging |
Het |
| Lmo7 |
A |
G |
14: 102,122,737 (GRCm39) |
R309G |
probably damaging |
Het |
| Marco |
C |
A |
1: 120,402,395 (GRCm39) |
C517F |
probably damaging |
Het |
| Mpdz |
G |
A |
4: 81,221,891 (GRCm39) |
T1423I |
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,218,600 (GRCm39) |
S1410G |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,292,091 (GRCm39) |
N283S |
probably damaging |
Het |
| Nlrp14 |
T |
A |
7: 106,781,094 (GRCm39) |
L97* |
probably null |
Het |
| Olfm3 |
T |
G |
3: 114,916,393 (GRCm39) |
S442A |
probably damaging |
Het |
| Or10p1 |
A |
G |
10: 129,444,029 (GRCm39) |
V107A |
possibly damaging |
Het |
| Or14j10 |
T |
C |
17: 37,935,392 (GRCm39) |
I45V |
probably damaging |
Het |
| Or2ag12 |
T |
C |
7: 106,277,333 (GRCm39) |
Y120C |
probably damaging |
Het |
| Or5a1 |
T |
A |
19: 12,097,375 (GRCm39) |
S234C |
probably benign |
Het |
| Or5an10 |
T |
C |
19: 12,276,212 (GRCm39) |
T95A |
probably benign |
Het |
| Pank4 |
G |
A |
4: 155,065,007 (GRCm39) |
V769I |
probably benign |
Het |
| Pdgfrb |
G |
A |
18: 61,216,336 (GRCm39) |
D1065N |
probably damaging |
Het |
| Ppp1r12a |
G |
A |
10: 108,104,501 (GRCm39) |
S911N |
probably benign |
Het |
| Prdx6b |
A |
G |
2: 80,123,334 (GRCm39) |
T48A |
probably damaging |
Het |
| Pttg1ip |
A |
G |
10: 77,432,870 (GRCm39) |
K166E |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,078,987 (GRCm39) |
D9G |
|
Het |
| Rpl13a |
C |
T |
7: 44,776,466 (GRCm39) |
G69S |
probably benign |
Het |
| Rps6ka5 |
T |
A |
12: 100,582,342 (GRCm39) |
I177F |
probably damaging |
Het |
| Rttn |
C |
A |
18: 89,078,603 (GRCm39) |
A1343E |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,575,539 (GRCm39) |
V4820I |
possibly damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,938,891 (GRCm39) |
I223V |
possibly damaging |
Het |
| Slc9a3 |
G |
A |
13: 74,305,813 (GRCm39) |
V277M |
probably damaging |
Het |
| Spata13 |
A |
T |
14: 60,989,298 (GRCm39) |
Y988F |
probably damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,724,351 (GRCm39) |
N276K |
probably benign |
Het |
| Spo11 |
A |
G |
2: 172,833,864 (GRCm39) |
I329V |
possibly damaging |
Het |
| Tcp11l2 |
A |
T |
10: 84,422,998 (GRCm39) |
D63V |
probably damaging |
Het |
| Tdrd3 |
G |
A |
14: 87,744,029 (GRCm39) |
W659* |
probably null |
Het |
| Thnsl2 |
T |
C |
6: 71,118,311 (GRCm39) |
D39G |
probably benign |
Het |
| Thumpd1 |
A |
T |
7: 119,316,085 (GRCm39) |
L288* |
probably null |
Het |
| Tram1l1 |
T |
C |
3: 124,115,556 (GRCm39) |
Y239H |
probably damaging |
Het |
| Usp38 |
T |
A |
8: 81,708,601 (GRCm39) |
E992D |
probably damaging |
Het |
| Usp45 |
A |
G |
4: 21,784,790 (GRCm39) |
T159A |
probably benign |
Het |
| Vmn1r218 |
C |
T |
13: 23,320,830 (GRCm39) |
T59I |
probably benign |
Het |
| Vmn2r70 |
T |
C |
7: 85,214,499 (GRCm39) |
I218V |
probably benign |
Het |
| Xpr1 |
T |
C |
1: 155,183,488 (GRCm39) |
I461V |
probably benign |
Het |
| Ydjc |
T |
C |
16: 16,964,869 (GRCm39) |
L8P |
probably damaging |
Het |
| Yme1l1 |
A |
T |
2: 23,050,232 (GRCm39) |
N21I |
possibly damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,455,426 (GRCm39) |
L1140P |
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 |
181,633,050 (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'- CTCTGTGGAATCTGGTTGGTAA -3'
(R):5'- ACAGTGTTGTCCTGTTTATAAGTTTA -3'
Sequencing Primer
(F):5'- AACATCTCCTCCCTTTATTGACAGAG -3'
(R):5'- CCTGGAACTCACTTTGTAGACTAGG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation