Incidental Mutation 'IGL01328:Gm14496'
ID 74359
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm14496
Ensembl Gene ENSMUSG00000098505
Gene Name predicted gene 14496
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01328
Quality Score
Status
Chromosome 2
Chromosomal Location 181633019-181642880 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 181637673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 249 (Y249C)
Ref Sequence ENSEMBL: ENSMUSP00000071670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071760]
AlphaFold K7N5U4
Predicted Effect probably damaging
Transcript: ENSMUST00000071760
AA Change: Y249C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071670
Gene: ENSMUSG00000098505
AA Change: Y249C

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 C T 18: 59,181,954 (GRCm39) S1131F possibly damaging Het
Alg14 G A 3: 121,155,232 (GRCm39) V151I probably benign Het
Ano5 G A 7: 51,206,019 (GRCm39) probably null Het
Arhgef28 A T 13: 98,106,831 (GRCm39) C698S probably damaging Het
Cacnb4 T C 2: 52,354,637 (GRCm39) H247R probably damaging Het
Clec12b A T 6: 129,356,517 (GRCm39) W216R probably damaging Het
Clnk C T 5: 38,941,871 (GRCm39) S35N possibly damaging Het
Cnot4 T A 6: 35,055,049 (GRCm39) N80I probably damaging Het
Cntn5 C T 9: 9,781,773 (GRCm39) M635I probably damaging Het
Dlg5 A G 14: 24,252,419 (GRCm39) V107A probably damaging Het
Dsc2 A T 18: 20,181,343 (GRCm39) F155I probably damaging Het
Dtwd1 A G 2: 126,006,739 (GRCm39) I254V probably damaging Het
Dzip3 A T 16: 48,792,621 (GRCm39) D221E probably damaging Het
F13b T A 1: 139,435,820 (GRCm39) probably benign Het
Fam131b G A 6: 42,295,206 (GRCm39) L324F probably damaging Het
Fam83a A T 15: 57,849,901 (GRCm39) R148S probably damaging Het
Farsb T C 1: 78,447,729 (GRCm39) I236V probably benign Het
Fat4 T A 3: 39,034,807 (GRCm39) F2820I probably damaging Het
Fat4 T A 3: 38,944,140 (GRCm39) V1011E probably damaging Het
Fgf7 A G 2: 125,930,164 (GRCm39) E99G probably damaging Het
Fign T C 2: 63,809,216 (GRCm39) T685A probably damaging Het
Fubp1 G A 3: 151,925,855 (GRCm39) G289E probably damaging Het
Gata6 G T 18: 11,064,530 (GRCm39) M477I probably damaging Het
Hectd1 T C 12: 51,807,904 (GRCm39) D1768G probably damaging Het
Htatip2 T A 7: 49,420,697 (GRCm39) probably null Het
Irs2 C A 8: 11,054,792 (GRCm39) Q1213H probably damaging Het
Jak3 C T 8: 72,132,264 (GRCm39) R210C probably damaging Het
Klk1b27 T C 7: 43,705,303 (GRCm39) S157P probably damaging Het
Klri1 T C 6: 129,675,800 (GRCm39) S157G probably damaging Het
Mtmr2 G T 9: 13,713,223 (GRCm39) G395* probably null Het
Mx1 T A 16: 97,256,832 (GRCm39) I116F probably damaging Het
Oip5 A C 2: 119,442,314 (GRCm39) M200R possibly damaging Het
Or10ag56 T A 2: 87,139,925 (GRCm39) L284Q possibly damaging Het
Or10g3 T C 14: 52,609,967 (GRCm39) D181G probably damaging Het
Or4b1d T C 2: 89,969,418 (GRCm39) K22E probably benign Het
Or4k39 A G 2: 111,239,564 (GRCm39) Y268C probably damaging Het
Pamr1 T A 2: 102,472,482 (GRCm39) S594T probably benign Het
Phf13 C T 4: 152,080,285 (GRCm39) E13K probably benign Het
Plekha6 A T 1: 133,200,074 (GRCm39) probably null Het
Rad17 A C 13: 100,754,311 (GRCm39) N636K probably benign Het
Rad21 T A 15: 51,836,520 (GRCm39) D217V probably damaging Het
Slc7a10 A G 7: 34,885,917 (GRCm39) D4G possibly damaging Het
Stc1 A G 14: 69,275,726 (GRCm39) D173G probably benign Het
Supt16 C T 14: 52,414,489 (GRCm39) E438K probably benign Het
Tex15 C T 8: 34,061,424 (GRCm39) Q559* probably null Het
Trim44 T A 2: 102,230,365 (GRCm39) E222V probably benign Het
Ubr5 T C 15: 37,981,767 (GRCm39) E2343G possibly damaging Het
Vmn2r86 T C 10: 130,288,365 (GRCm39) T379A possibly damaging Het
Vmn2r93 A G 17: 18,545,819 (GRCm39) T564A probably benign Het
Vsir C A 10: 60,203,539 (GRCm39) probably benign Het
Vwc2l T A 1: 70,768,163 (GRCm39) probably null Het
Xrn2 T C 2: 146,871,850 (GRCm39) V396A possibly damaging Het
Zbbx T A 3: 75,000,382 (GRCm39) K208* probably null Het
Zfhx4 C A 3: 5,309,344 (GRCm39) L857M probably damaging Het
Zfp180 A G 7: 23,800,904 (GRCm39) D53G probably benign Het
Other mutations in Gm14496
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2013-10-07