Incidental Mutation 'IGL03214:Gm14496'
ID 413401
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 # IGL03214
Quality Score
Status
Chromosome 2
Chromosomal Location 181633019-181642880 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 181642329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 667 (L667V)
Ref Sequence ENSEMBL: ENSMUSP00000071670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071760]
AlphaFold K7N5U4
Predicted Effect probably damaging
Transcript: ENSMUST00000071760
AA Change: L667V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071670
Gene: ENSMUSG00000098505
AA Change: L667V

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T C 11: 7,117,054 (GRCm39) probably benign Het
Asb5 T C 8: 55,038,098 (GRCm39) V207A probably benign Het
Atxn3 G T 12: 101,912,181 (GRCm39) probably benign Het
Brwd1 T C 16: 95,839,100 (GRCm39) D857G probably benign Het
Cacna1i A G 15: 80,239,917 (GRCm39) N322S probably benign Het
Ccn6 T C 10: 39,029,163 (GRCm39) N255S probably benign Het
Dcun1d1 A T 3: 35,973,220 (GRCm39) W92R probably damaging Het
Dnah7a A C 1: 53,561,368 (GRCm39) probably null Het
Enpep T C 3: 129,086,896 (GRCm39) D581G probably benign Het
Fam135a G A 1: 24,092,357 (GRCm39) L201F probably damaging Het
Grk4 T A 5: 34,909,553 (GRCm39) M539K probably benign Het
Itpr2 A G 6: 146,081,742 (GRCm39) V2261A probably benign Het
Krtap5-2 A G 7: 141,728,751 (GRCm39) S310P unknown Het
Mme A T 3: 63,237,111 (GRCm39) Y232F possibly damaging Het
Mtmr4 T C 11: 87,488,519 (GRCm39) Y58H probably damaging Het
Myh13 T C 11: 67,244,411 (GRCm39) S983P possibly damaging Het
Nbas A G 12: 13,381,111 (GRCm39) probably benign Het
Neb C T 2: 52,049,560 (GRCm39) G6428R probably damaging Het
Neb T A 2: 52,087,856 (GRCm39) T5448S possibly damaging Het
Or2ag17 T A 7: 106,389,552 (GRCm39) I219L probably benign Het
Or2t1 A T 14: 14,328,284 (GRCm38) M58L probably damaging Het
Or52ab7 G T 7: 102,977,873 (GRCm39) S60I possibly damaging Het
Or5l13 T A 2: 87,780,415 (GRCm39) Q54L probably benign Het
Or5p52 T C 7: 107,502,173 (GRCm39) M83T probably benign Het
Otx2 A G 14: 48,898,781 (GRCm39) I75T probably damaging Het
Phex A T X: 155,960,500 (GRCm39) N681K probably damaging Het
Plekha8 C A 6: 54,612,755 (GRCm39) A454E probably damaging Het
Rbfa C A 18: 80,240,506 (GRCm39) K152N probably benign Het
Satb2 C A 1: 56,884,739 (GRCm39) S513I probably damaging Het
Slc4a2 G T 5: 24,639,879 (GRCm39) R520L probably benign Het
Slfn14 T C 11: 83,169,826 (GRCm39) H606R probably benign Het
Smc1b G A 15: 84,982,147 (GRCm39) Q716* probably null Het
Syncrip C T 9: 88,346,696 (GRCm39) probably benign Het
Vmn2r30 T A 7: 7,337,259 (GRCm39) I126F probably benign Het
Vps13c C T 9: 67,804,477 (GRCm39) A762V probably null Het
Wdr64 C A 1: 175,571,201 (GRCm39) 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
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
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 2016-08-02