Incidental Mutation 'IGL01951:Gm10718'
ID 279191
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm10718
Ensembl Gene ENSMUSG00000095186
Gene Name predicted gene 10718
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.509) question?
Stock # IGL01951
Quality Score
Status
Chromosome 9
Chromosomal Location 3023547-3025218 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3025118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 194 (Y194F)
Ref Sequence ENSEMBL: ENSMUSP00000096645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075573] [ENSMUST00000099046] [ENSMUST00000099047] [ENSMUST00000099051] [ENSMUST00000177601] [ENSMUST00000177875] [ENSMUST00000179272] [ENSMUST00000179982]
AlphaFold D3Z1I7
Predicted Effect probably benign
Transcript: ENSMUST00000075573
SMART Domains Protein: ENSMUSP00000096644
Gene: ENSMUSG00000095891

DomainStartEndE-ValueType
internal_repeat_1 1 41 1.06e-10 PROSPERO
transmembrane domain 68 90 N/A INTRINSIC
internal_repeat_1 118 177 1.06e-10 PROSPERO
transmembrane domain 200 222 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099046
AA Change: Y194F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000096645
Gene: ENSMUSG00000095186
AA Change: Y194F

DomainStartEndE-ValueType
internal_repeat_1 1 41 4.44e-7 PROSPERO
transmembrane domain 67 89 N/A INTRINSIC
internal_repeat_1 117 177 4.44e-7 PROSPERO
transmembrane domain 197 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099047
SMART Domains Protein: ENSMUSP00000096646
Gene: ENSMUSG00000095547

DomainStartEndE-ValueType
internal_repeat_1 1 40 1.58e-10 PROSPERO
transmembrane domain 53 72 N/A INTRINSIC
transmembrane domain 77 99 N/A INTRINSIC
internal_repeat_1 117 176 1.58e-10 PROSPERO
transmembrane domain 199 221 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099051
SMART Domains Protein: ENSMUSP00000096650
Gene: ENSMUSG00000095891

DomainStartEndE-ValueType
internal_repeat_1 2 38 6.22e-5 PROSPERO
transmembrane domain 58 80 N/A INTRINSIC
transmembrane domain 90 109 N/A INTRINSIC
internal_repeat_1 118 174 6.22e-5 PROSPERO
transmembrane domain 185 207 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177601
SMART Domains Protein: ENSMUSP00000136755
Gene: ENSMUSG00000095891

DomainStartEndE-ValueType
internal_repeat_2 1 24 2.26e-6 PROSPERO
internal_repeat_1 2 37 2.26e-6 PROSPERO
internal_repeat_1 40 95 2.26e-6 PROSPERO
internal_repeat_2 118 142 2.26e-6 PROSPERO
low complexity region 147 159 N/A INTRINSIC
low complexity region 169 183 N/A INTRINSIC
transmembrane domain 186 208 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177875
SMART Domains Protein: ENSMUSP00000137419
Gene: ENSMUSG00000095891

DomainStartEndE-ValueType
internal_repeat_1 1 49 1.49e-11 PROSPERO
transmembrane domain 68 90 N/A INTRINSIC
internal_repeat_1 118 186 1.49e-11 PROSPERO
transmembrane domain 197 219 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181572
Predicted Effect probably benign
Transcript: ENSMUST00000179272
SMART Domains Protein: ENSMUSP00000136170
Gene: ENSMUSG00000095547

DomainStartEndE-ValueType
internal_repeat_1 1 49 2.1e-10 PROSPERO
transmembrane domain 74 96 N/A INTRINSIC
internal_repeat_1 118 186 2.1e-10 PROSPERO
transmembrane domain 198 217 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179982
SMART Domains Protein: ENSMUSP00000136365
Gene: ENSMUSG00000095891

DomainStartEndE-ValueType
internal_repeat_1 1 35 7.76e-13 PROSPERO
transmembrane domain 67 89 N/A INTRINSIC
internal_repeat_1 117 152 7.76e-13 PROSPERO
low complexity region 157 169 N/A INTRINSIC
transmembrane domain 198 220 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,092,865 (GRCm39) I152T probably damaging Het
A2m C T 6: 121,644,149 (GRCm39) T949I possibly damaging Het
Begain T A 12: 108,999,571 (GRCm39) Y605F probably benign Het
Cavin2 A G 1: 51,328,570 (GRCm39) E9G possibly damaging Het
Cdh16 A G 8: 105,344,323 (GRCm39) V72A probably damaging Het
Dgkd T C 1: 87,844,638 (GRCm39) L268P probably damaging Het
Eps8 T A 6: 137,514,669 (GRCm39) Y28F possibly damaging Het
Erap1 T C 13: 74,823,414 (GRCm39) I816T probably damaging Het
Fli1 A T 9: 32,372,660 (GRCm39) F126Y probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm21957 A T 7: 124,819,004 (GRCm39) noncoding transcript Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Hectd1 T A 12: 51,841,280 (GRCm39) R618* probably null Het
Homez T C 14: 55,095,633 (GRCm39) E25G probably damaging Het
Ifngr1 C A 10: 19,485,202 (GRCm39) N400K possibly damaging Het
Lin7a G A 10: 107,247,886 (GRCm39) V186I possibly damaging Het
Lpcat2 G T 8: 93,644,675 (GRCm39) S448I probably damaging Het
Lrp10 C A 14: 54,706,119 (GRCm39) Y436* probably null Het
Myef2l G A 3: 10,154,118 (GRCm39) V296M probably damaging Het
Myo1f A G 17: 33,816,991 (GRCm39) H707R possibly damaging Het
Neurl4 A G 11: 69,800,449 (GRCm39) N1147D probably damaging Het
Or4b1b G T 2: 90,112,351 (GRCm39) D189E probably damaging Het
Or6b3 T C 1: 92,438,853 (GRCm39) D299G probably null Het
Pak6 T C 2: 118,523,741 (GRCm39) S299P probably benign Het
Panx2 A G 15: 88,952,970 (GRCm39) D487G probably damaging Het
Sbspon T C 1: 15,929,158 (GRCm39) N211S probably benign Het
Sgsm1 T A 5: 113,434,633 (GRCm39) probably benign Het
Slc38a4 T C 15: 96,917,644 (GRCm39) Y27C probably benign Het
Sorbs1 A G 19: 40,306,460 (GRCm39) probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Ssh1 A T 5: 114,104,308 (GRCm39) Y35N possibly damaging Het
Stx2 A T 5: 129,069,329 (GRCm39) F127L probably damaging Het
Synm A T 7: 67,388,885 (GRCm39) I325N probably damaging Het
Szt2 A G 4: 118,233,690 (GRCm39) probably benign Het
Tbc1d23 A G 16: 57,007,048 (GRCm39) probably benign Het
Tmem50a T C 4: 134,625,739 (GRCm39) probably benign Het
Tpx2 T G 2: 152,726,096 (GRCm39) L354V probably benign Het
Trafd1 G A 5: 121,512,094 (GRCm39) R399C possibly damaging Het
Trem3 C T 17: 48,556,903 (GRCm39) R125W probably damaging Het
Ubp1 T A 9: 113,780,686 (GRCm39) Y92* probably null Het
Wnk1 T A 6: 119,940,446 (GRCm39) T62S probably damaging Het
Zbtb6 T C 2: 37,319,343 (GRCm39) E195G probably benign Het
Zc3h15 A G 2: 83,491,829 (GRCm39) D306G probably damaging Het
Other mutations in Gm10718
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01863:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01865:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01867:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01868:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01869:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01870:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01871:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01874:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01877:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01878:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01879:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01880:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01881:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01883:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01884:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01885:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01886:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01887:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01888:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01890:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01891:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01894:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01895:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01896:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01897:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01898:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01901:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01903:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01904:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01905:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01908:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01909:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01910:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01912:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01917:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01918:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01919:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01920:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01924:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01925:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01926:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01928:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01929:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01932:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01933:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01934:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01937:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01938:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01941:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01944:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01945:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01946:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01947:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01949:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01950:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01952:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01953:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01958:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
PIT4131001:Gm10718 UTSW 9 3,024,417 (GRCm39) missense probably benign 0.01
PIT4142001:Gm10718 UTSW 9 3,024,417 (GRCm39) missense probably benign 0.01
R4567:Gm10718 UTSW 9 3,023,716 (GRCm39) missense probably benign 0.01
R4850:Gm10718 UTSW 9 3,023,716 (GRCm39) missense probably benign 0.01
RF039:Gm10718 UTSW 9 3,024,385 (GRCm39) frame shift probably null
Posted On 2015-04-16