Incidental Mutation 'IGL01870:Gm12794'
ID178682
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm12794
Ensembl Gene ENSMUSG00000070890
Gene Namepredicted gene 12794
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL01870
Quality Score
Status
Chromosome4
Chromosomal Location101940407-101943183 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 101940690 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 95 (L95H)
Ref Sequence ENSEMBL: ENSMUSP00000051550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052027]
Predicted Effect probably benign
Transcript: ENSMUST00000052027
AA Change: L95H

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000051550
Gene: ENSMUSG00000070890
AA Change: L95H

DomainStartEndE-ValueType
SCOP:d1a4ya_ 257 409 9e-11 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a A G 13: 30,381,327 D125G probably damaging Het
Arhgap31 T C 16: 38,618,242 K300E probably damaging Het
Cma2 C A 14: 55,973,737 S162Y probably benign Het
Cntn4 A G 6: 106,489,715 T193A possibly damaging Het
Col22a1 T A 15: 71,952,528 M556L probably benign Het
Dld A G 12: 31,335,467 S292P possibly damaging Het
Dnah6 A T 6: 73,032,569 D3746E probably benign Het
Eea1 A G 10: 95,973,986 T9A probably damaging Het
Fam102a T C 2: 32,566,282 S319P probably benign Het
Gbf1 A G 19: 46,285,669 K1714R probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
H2-M1 A T 17: 36,670,063 M327K probably benign Het
Ifnz T A 4: 88,783,311 S176T possibly damaging Het
Irak4 T C 15: 94,547,870 Y10H probably benign Het
Irx5 T C 8: 92,359,777 F163L probably damaging Het
Jak3 C T 8: 71,680,790 P376S probably damaging Het
Lrrc25 T C 8: 70,617,787 S73P possibly damaging Het
Macf1 C T 4: 123,474,113 G2285D probably damaging Het
Muc4 A T 16: 32,753,196 T1025S probably benign Het
Mylk2 A G 2: 152,915,214 N303S probably benign Het
Olfr111 G A 17: 37,530,664 R229H probably benign Het
Pcnx T C 12: 81,975,893 V1512A probably benign Het
Phlda3 A G 1: 135,766,638 S64G probably benign Het
Pptc7 C A 5: 122,313,602 S40R probably damaging Het
Ptpn4 A C 1: 119,675,547 probably null Het
Slc10a1 T C 12: 80,960,528 M160V probably benign Het
Stac T C 9: 111,572,332 I349V probably benign Het
Synm A G 7: 67,736,118 S157P possibly damaging Het
Tbc1d9b T C 11: 50,162,088 L924P probably damaging Het
Tcaf2 C T 6: 42,624,477 V883I possibly damaging Het
Upp1 T C 11: 9,125,700 probably null Het
Whamm C T 7: 81,595,974 T726I probably damaging Het
Other mutations in Gm12794
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Gm12794 APN 4 101941701 missense probably benign 0.02
IGL01360:Gm12794 APN 4 101940468 missense possibly damaging 0.94
IGL01837:Gm12794 APN 4 101941453 missense probably damaging 1.00
IGL02040:Gm12794 APN 4 101941134 missense possibly damaging 0.94
IGL03264:Gm12794 APN 4 101941132 missense probably damaging 0.99
R0033:Gm12794 UTSW 4 101941684 missense probably benign
R0334:Gm12794 UTSW 4 101941584 missense probably benign 0.01
R0846:Gm12794 UTSW 4 101941250 missense probably benign 0.00
R1464:Gm12794 UTSW 4 101941306 missense probably damaging 0.97
R1464:Gm12794 UTSW 4 101941306 missense probably damaging 0.97
R1774:Gm12794 UTSW 4 101940458 missense probably benign 0.27
R1888:Gm12794 UTSW 4 101941138 missense probably damaging 0.99
R1888:Gm12794 UTSW 4 101941138 missense probably damaging 0.99
R4510:Gm12794 UTSW 4 101941560 missense probably benign 0.00
R4511:Gm12794 UTSW 4 101941560 missense probably benign 0.00
R4890:Gm12794 UTSW 4 101941591 missense probably damaging 0.99
R4960:Gm12794 UTSW 4 101941464 missense probably benign
R5043:Gm12794 UTSW 4 101940524 missense possibly damaging 0.89
R5297:Gm12794 UTSW 4 101941151 missense possibly damaging 0.46
R5780:Gm12794 UTSW 4 101941527 missense probably damaging 1.00
R5957:Gm12794 UTSW 4 101941701 missense probably benign 0.02
R6409:Gm12794 UTSW 4 101940677 nonsense probably null
R6452:Gm12794 UTSW 4 101941443 missense probably benign 0.02
R7619:Gm12794 UTSW 4 101941300 missense probably benign 0.01
Z1177:Gm12794 UTSW 4 101941125 nonsense probably null
Posted On2014-05-07