Incidental Mutation 'R8379:Gm14496'
ID |
646842 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm14496
|
Ensembl Gene |
ENSMUSG00000098505 |
Gene Name |
predicted gene 14496 |
Synonyms |
|
MMRRC Submission |
067810-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8379 (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 T
at 181642275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 649
(I649F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071760]
|
AlphaFold |
K7N5U4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071760
AA Change: I649F
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000071670 Gene: ENSMUSG00000098505 AA Change: I649F
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 |
|
Meta Mutation Damage Score |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
98% (61/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aipl1 |
T |
C |
11: 71,920,126 (GRCm39) |
D314G |
probably benign |
Het |
Ankrd12 |
T |
G |
17: 66,290,939 (GRCm39) |
E1498A |
probably benign |
Het |
Appl1 |
A |
T |
14: 26,647,372 (GRCm39) |
|
probably null |
Het |
Auh |
A |
G |
13: 53,063,349 (GRCm39) |
*116R |
probably null |
Het |
Ccdc7a |
T |
A |
8: 129,691,417 (GRCm39) |
H402L |
probably benign |
Het |
Ccr4 |
T |
C |
9: 114,321,235 (GRCm39) |
T277A |
probably benign |
Het |
Col18a1 |
C |
T |
10: 76,889,072 (GRCm39) |
V1302I |
probably benign |
Het |
Csnk1a1 |
T |
C |
18: 61,688,925 (GRCm39) |
I35T |
probably benign |
Het |
Csnk1e |
T |
C |
15: 79,304,882 (GRCm39) |
R374G |
possibly damaging |
Het |
Ddx11 |
A |
G |
17: 66,437,020 (GRCm39) |
R105G |
probably benign |
Het |
Denr |
C |
A |
5: 124,065,124 (GRCm39) |
T159K |
possibly damaging |
Het |
Dmp1 |
C |
A |
5: 104,359,571 (GRCm39) |
Y82* |
probably null |
Het |
Dok3 |
A |
G |
13: 55,671,833 (GRCm39) |
V246A |
probably benign |
Het |
Endov |
A |
C |
11: 119,382,723 (GRCm39) |
K57Q |
possibly damaging |
Het |
Fam83a |
A |
G |
15: 57,873,196 (GRCm39) |
T342A |
probably benign |
Het |
Fbln1 |
G |
A |
15: 85,116,773 (GRCm39) |
C275Y |
probably damaging |
Het |
Fhip1b |
T |
C |
7: 105,034,342 (GRCm39) |
N430D |
possibly damaging |
Het |
Foxi1 |
A |
G |
11: 34,157,530 (GRCm39) |
I165T |
possibly damaging |
Het |
Grin2b |
A |
G |
6: 135,899,967 (GRCm39) |
S305P |
probably damaging |
Het |
Grm1 |
G |
A |
10: 10,564,879 (GRCm39) |
T1143M |
possibly damaging |
Het |
Ifi202b |
C |
A |
1: 173,802,298 (GRCm39) |
|
probably null |
Het |
Klhl32 |
A |
T |
4: 24,629,194 (GRCm39) |
D491E |
probably damaging |
Het |
Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
Krt13 |
A |
G |
11: 100,009,706 (GRCm39) |
L358P |
probably damaging |
Het |
Limk2 |
G |
A |
11: 3,321,162 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,756,453 (GRCm39) |
D4720G |
probably null |
Het |
Mkln1 |
T |
A |
6: 31,435,900 (GRCm39) |
Y286* |
probably null |
Het |
Muc6 |
C |
A |
7: 141,230,579 (GRCm39) |
E1143* |
probably null |
Het |
Myh15 |
A |
G |
16: 48,901,551 (GRCm39) |
I242M |
probably benign |
Het |
Noc4l |
T |
G |
5: 110,798,828 (GRCm39) |
K241Q |
probably damaging |
Het |
Nup88 |
C |
A |
11: 70,860,607 (GRCm39) |
L57F |
possibly damaging |
Het |
Obsl1 |
G |
T |
1: 75,480,501 (GRCm39) |
F374L |
possibly damaging |
Het |
Or51aa2 |
A |
G |
7: 103,188,183 (GRCm39) |
I86T |
possibly damaging |
Het |
Orm1 |
A |
T |
4: 63,264,355 (GRCm39) |
D137V |
probably damaging |
Het |
Osbpl2 |
T |
A |
2: 179,778,895 (GRCm39) |
D9E |
probably damaging |
Het |
P4ha3 |
G |
T |
7: 99,942,986 (GRCm39) |
D124Y |
probably damaging |
Het |
Poteg |
T |
C |
8: 27,943,354 (GRCm39) |
V208A |
probably benign |
Het |
Ppfibp1 |
A |
G |
6: 146,931,843 (GRCm39) |
D963G |
probably damaging |
Het |
Prdx6 |
G |
T |
1: 161,078,660 (GRCm39) |
D9E |
probably benign |
Het |
Prrc2b |
C |
A |
2: 32,104,666 (GRCm39) |
N1381K |
probably damaging |
Het |
Ptpn14 |
T |
A |
1: 189,565,598 (GRCm39) |
V222E |
possibly damaging |
Het |
Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
Rexo5 |
A |
T |
7: 119,433,508 (GRCm39) |
M422L |
probably benign |
Het |
Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
Robo2 |
A |
T |
16: 73,730,588 (GRCm39) |
I1008N |
probably damaging |
Het |
Sidt1 |
T |
A |
16: 44,106,755 (GRCm39) |
Y225F |
probably benign |
Het |
Slc6a15 |
A |
T |
10: 103,225,048 (GRCm39) |
E45D |
probably benign |
Het |
Spata31d1a |
T |
G |
13: 59,850,668 (GRCm39) |
M487L |
probably benign |
Het |
St6galnac1 |
C |
A |
11: 116,666,325 (GRCm39) |
|
probably benign |
Het |
Tcp11l2 |
A |
G |
10: 84,449,469 (GRCm39) |
Y478C |
probably damaging |
Het |
Tdrd12 |
G |
T |
7: 35,223,482 (GRCm39) |
C67* |
probably null |
Het |
Tead2 |
G |
A |
7: 44,867,505 (GRCm39) |
G78D |
probably damaging |
Het |
Tfpi2 |
A |
T |
6: 3,963,849 (GRCm39) |
N194K |
probably damaging |
Het |
Timd2 |
A |
G |
11: 46,568,027 (GRCm39) |
|
probably null |
Het |
Tmem270 |
T |
C |
5: 134,930,557 (GRCm39) |
T235A |
probably benign |
Het |
Tnrc18 |
T |
C |
5: 142,774,157 (GRCm39) |
D224G |
|
Het |
Tsga10 |
G |
T |
1: 37,840,959 (GRCm39) |
Q416K |
probably benign |
Het |
Ulk1 |
C |
A |
5: 110,935,531 (GRCm39) |
L911F |
probably damaging |
Het |
Usp8 |
T |
C |
2: 126,584,491 (GRCm39) |
S567P |
probably benign |
Het |
Vmn2r-ps158 |
C |
T |
7: 42,697,270 (GRCm39) |
P776S |
probably damaging |
Het |
Zdhhc3 |
A |
C |
9: 122,918,143 (GRCm39) |
C129G |
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 |
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 |
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'- CATTAGGGATGGCACTAGGC -3'
(R):5'- TGTTACCAACCAGATTCCACAG -3'
Sequencing Primer
(F):5'- ATGGCACTAGGCTGCATG -3'
(R):5'- TTCCACAGAGAACAAGTTGGATC -3'
|
Posted On |
2020-09-02 |