Incidental Mutation 'IGL01013:Gm10722'
ID53768
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm10722
Ensembl Gene ENSMUSG00000091028
Gene Namepredicted gene 10722
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.615) question?
Stock #IGL01013
Quality Score
Status
Chromosome9
Chromosomal Location3000922-3002330 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 3002230 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 184 (Y184F)
Ref Sequence ENSEMBL: ENSMUSP00000132394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000151376] [ENSMUST00000177722] [ENSMUST00000178077] [ENSMUST00000178348] [ENSMUST00000179881]
Predicted Effect probably damaging
Transcript: ENSMUST00000151376
AA Change: Y184F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132394
Gene: ENSMUSG00000091028
AA Change: Y184F

DomainStartEndE-ValueType
internal_repeat_2 8 50 1.25e-5 PROSPERO
internal_repeat_1 11 88 6.98e-39 PROSPERO
internal_repeat_2 66 108 1.25e-5 PROSPERO
internal_repeat_1 89 166 6.98e-39 PROSPERO
transmembrane domain 187 209 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177722
SMART Domains Protein: ENSMUSP00000136598
Gene: ENSMUSG00000096385

DomainStartEndE-ValueType
internal_repeat_1 1 19 1.14e-8 PROSPERO
transmembrane domain 26 48 N/A INTRINSIC
transmembrane domain 68 90 N/A INTRINSIC
internal_repeat_1 118 136 1.14e-8 PROSPERO
transmembrane domain 156 178 N/A INTRINSIC
transmembrane domain 200 222 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178077
SMART Domains Protein: ENSMUSP00000136761
Gene: ENSMUSG00000096385

DomainStartEndE-ValueType
internal_repeat_1 1 19 4.71e-8 PROSPERO
transmembrane domain 26 48 N/A INTRINSIC
transmembrane domain 68 90 N/A INTRINSIC
internal_repeat_1 118 136 4.71e-8 PROSPERO
transmembrane domain 156 178 N/A INTRINSIC
transmembrane domain 200 222 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178348
SMART Domains Protein: ENSMUSP00000137273
Gene: ENSMUSG00000096385

DomainStartEndE-ValueType
internal_repeat_1 1 48 1.34e-9 PROSPERO
transmembrane domain 77 99 N/A INTRINSIC
internal_repeat_1 117 165 1.34e-9 PROSPERO
transmembrane domain 196 218 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179881
SMART Domains Protein: ENSMUSP00000136541
Gene: ENSMUSG00000096385

DomainStartEndE-ValueType
internal_repeat_1 1 46 5.29e-7 PROSPERO
transmembrane domain 53 72 N/A INTRINSIC
transmembrane domain 77 99 N/A INTRINSIC
internal_repeat_1 117 182 5.29e-7 PROSPERO
transmembrane domain 195 217 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181242
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 76,886,206 E499D possibly damaging Het
Abca1 A T 4: 53,038,185 L2059* probably null Het
Ankar T A 1: 72,650,989 I1228F possibly damaging Het
Appl1 A T 14: 26,949,476 Y340N possibly damaging Het
Atp8b4 C A 2: 126,323,087 R1103L probably benign Het
B4galt6 A G 18: 20,689,013 V308A probably damaging Het
Ccdc162 G A 10: 41,581,339 P1534L probably benign Het
Ccdc78 A G 17: 25,789,054 E313G possibly damaging Het
Cep57l1 G A 10: 41,740,869 R141* probably null Het
Cpsf1 G A 15: 76,599,297 Q883* probably null Het
Crot A G 5: 8,993,575 Y16H probably benign Het
Cyld T G 8: 88,742,362 L587R probably damaging Het
Fam114a1 G A 5: 65,031,395 probably null Het
Fam89b G T 19: 5,729,369 D53E probably benign Het
Fig4 T C 10: 41,267,786 M226V probably benign Het
Hp C A 8: 109,579,021 probably benign Het
Igsf9b G T 9: 27,334,304 R1189L probably damaging Het
Ilf3 A G 9: 21,399,691 N620D possibly damaging Het
Jakmip3 A C 7: 139,017,573 E228A possibly damaging Het
Kpna3 A T 14: 61,370,517 I413K probably damaging Het
Letm1 A T 5: 33,762,590 C202S possibly damaging Het
Lmod2 C A 6: 24,604,135 Q370K probably damaging Het
Map4k5 T C 12: 69,827,526 probably benign Het
Mcidas T A 13: 112,997,585 probably benign Het
Mme A G 3: 63,327,860 probably null Het
Mrc1 T C 2: 14,328,425 W1306R probably damaging Het
Mthfd1l C A 10: 4,030,716 Q473K probably damaging Het
Muc6 A T 7: 141,648,066 C719* probably null Het
Nsun7 T C 5: 66,283,601 I355T possibly damaging Het
Padi6 A G 4: 140,729,003 L560P probably damaging Het
Parl C A 16: 20,282,790 A285S possibly damaging Het
Pclo A T 5: 14,793,834 M4795L unknown Het
Polr2f A G 15: 79,146,129 Y56C probably damaging Het
Rasgrp2 A T 19: 6,404,383 H152L probably damaging Het
Rpl10l T C 12: 66,284,227 D44G probably benign Het
Slc25a16 A G 10: 62,944,433 probably null Het
Snrnp200 G A 2: 127,232,472 E1411K probably damaging Het
Tanc2 G A 11: 105,625,065 R3Q probably damaging Het
Tbc1d32 G T 10: 56,201,959 probably null Het
Tcf7l2 T C 19: 55,919,627 probably benign Het
Tnrc6c G T 11: 117,722,029 V498L probably benign Het
Tymp G A 15: 89,376,310 H102Y probably damaging Het
Wdr76 T C 2: 121,535,497 S492P probably benign Het
Zc3h12d T C 10: 7,839,956 I41T probably damaging Het
Other mutations in Gm10722
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4131001:Gm10722 UTSW 9 3001414 unclassified probably benign
PIT4142001:Gm10722 UTSW 9 3001350 missense probably benign
R0148:Gm10722 UTSW 9 3001405 missense probably null
R0335:Gm10722 UTSW 9 3001048 missense probably null
R4162:Gm10722 UTSW 9 3001041 missense probably benign
R4327:Gm10722 UTSW 9 3000937 missense probably benign
R4449:Gm10722 UTSW 9 3001041 missense probably benign
R4516:Gm10722 UTSW 9 3000937 missense probably benign
R4807:Gm10722 UTSW 9 3000937 missense probably benign
R4998:Gm10722 UTSW 9 3001041 missense probably benign
R5017:Gm10722 UTSW 9 3000937 missense probably benign
R5021:Gm10722 UTSW 9 3001041 missense probably benign
R5075:Gm10722 UTSW 9 3001041 missense probably benign
R5135:Gm10722 UTSW 9 3000937 missense probably benign
R5152:Gm10722 UTSW 9 3001041 missense probably benign
R5226:Gm10722 UTSW 9 3000937 missense probably benign
R5482:Gm10722 UTSW 9 3001041 missense probably benign
Posted On2013-06-28