Incidental Mutation 'IGL01387:Gm11168'
ID79083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm11168
Ensembl Gene ENSMUSG00000096385
Gene Namepredicted gene 11168
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01387
Quality Score
Status
Chromosome9
Chromosomal Location3003346-3006948 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 3005128 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 202 (S202R)
Ref Sequence ENSEMBL: ENSMUSP00000137273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000151376] [ENSMUST00000177722] [ENSMUST00000178077] [ENSMUST00000178348] [ENSMUST00000179881]
Predicted Effect probably benign
Transcript: ENSMUST00000151376
SMART Domains Protein: ENSMUSP00000132394
Gene: ENSMUSG00000091028

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 possibly damaging
Transcript: ENSMUST00000177722
AA Change: S206R

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136598
Gene: ENSMUSG00000096385
AA Change: S206R

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 possibly damaging
Transcript: ENSMUST00000178077
AA Change: S206R

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136761
Gene: ENSMUSG00000096385
AA Change: S206R

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 possibly damaging
Transcript: ENSMUST00000178348
AA Change: S202R

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137273
Gene: ENSMUSG00000096385
AA Change: S202R

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,999,762 I288T possibly damaging Het
Akr1c13 T A 13: 4,197,795 probably null Het
Ano2 T C 6: 126,013,277 L787P probably damaging Het
Arf4 A T 14: 26,653,145 I73F possibly damaging Het
Atp6v1e1 A G 6: 120,795,771 probably null Het
Ccdc9 A C 7: 16,284,499 M1R probably null Het
Cep162 A G 9: 87,211,811 L838S probably benign Het
Cfi T A 3: 129,874,913 probably benign Het
Creb3l3 T C 10: 81,091,276 T107A probably benign Het
Erlin2 T C 8: 27,036,548 L312P probably benign Het
Etv1 T G 12: 38,861,327 M384R probably damaging Het
Exph5 G T 9: 53,373,965 S782I possibly damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Fsip2 A G 2: 82,992,982 N6353S possibly damaging Het
Gk5 T C 9: 96,177,554 probably null Het
Hdlbp T C 1: 93,413,588 D1016G possibly damaging Het
Kpna4 A G 3: 69,102,257 probably benign Het
Lrrn2 T C 1: 132,938,358 V387A possibly damaging Het
Olfr1084 T C 2: 86,639,250 T153A probably benign Het
Olfr1249 T A 2: 89,630,620 R93* probably null Het
Olfr1350 A G 7: 6,570,855 Y288C probably damaging Het
Olfr820 T A 10: 130,017,841 M160K probably damaging Het
Olfr937 A G 9: 39,060,321 L115S probably damaging Het
Plekhs1 A G 19: 56,470,971 Q51R probably benign Het
Rab27b T A 18: 69,985,309 D179V possibly damaging Het
Rprd2 C T 3: 95,765,319 R924H probably benign Het
Shprh T C 10: 11,170,254 I905T probably damaging Het
Trpm8 T C 1: 88,343,287 L433P probably damaging Het
Urb1 A G 16: 90,757,761 L1861S possibly damaging Het
Vmn2r124 C A 17: 18,062,926 T294K probably damaging Het
Wdr66 T A 5: 123,283,546 I654N probably damaging Het
Znrf3 A T 11: 5,338,656 C37* probably null Het
Other mutations in Gm11168
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Gm11168 APN 9 3005124 missense probably damaging 1.00
IGL01878:Gm11168 APN 9 3005204 missense probably benign
IGL03339:Gm11168 APN 9 3004767 missense probably benign 0.01
PIT4131001:Gm11168 UTSW 9 3004605 missense probably benign
PIT4142001:Gm11168 UTSW 9 3004605 missense probably benign
R0196:Gm11168 UTSW 9 3005175 missense probably benign
R4783:Gm11168 UTSW 9 3006915 missense probably benign 0.05
R7406:Gm11168 UTSW 9 3006912 missense probably benign
Posted On2013-11-05