Incidental Mutation 'IGL01287:AI464131'
ID72770
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AI464131
Ensembl Gene ENSMUSG00000046312
Gene Nameexpressed sequence AI464131
SynonymsNET37
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01287
Quality Score
Status
Chromosome4
Chromosomal Location41495604-41503076 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 41498923 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 236 (I236F)
Ref Sequence ENSEMBL: ENSMUSP00000059038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054920] [ENSMUST00000149596]
Predicted Effect possibly damaging
Transcript: ENSMUST00000054920
AA Change: I236F

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000059038
Gene: ENSMUSG00000046312
AA Change: I236F

DomainStartEndE-ValueType
transmembrane domain 56 78 N/A INTRINSIC
Pfam:Glyco_hydro_31 311 712 9.7e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149596
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,257,757 K445E probably damaging Het
1700061G19Rik C T 17: 56,882,203 Q204* probably null Het
Abca15 A T 7: 120,332,858 probably benign Het
Acvr1c A T 2: 58,280,242 C371* probably null Het
Brs3 T C X: 57,047,367 probably benign Het
Car14 C T 3: 95,899,559 V198M possibly damaging Het
Cenpc1 G A 5: 86,022,454 R704* probably null Het
Crybg1 C T 10: 43,992,494 R1396H possibly damaging Het
Cubn A G 2: 13,310,566 S3019P probably damaging Het
Cyp2j9 T C 4: 96,583,428 E222G probably benign Het
Defb50 C A 8: 21,831,171 T59K probably benign Het
Dlg3 T C X: 100,807,242 I587T possibly damaging Het
Doc2a C T 7: 126,851,001 R204C probably damaging Het
Galc T C 12: 98,246,244 probably benign Het
Gm8257 A T 14: 44,655,343 F67I probably damaging Het
Hnrnpul1 A T 7: 25,726,898 N509K probably damaging Het
Iars2 T A 1: 185,296,428 I678F possibly damaging Het
Ifit1 A G 19: 34,648,133 E223G possibly damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Lrp4 C A 2: 91,473,948 D157E probably damaging Het
Ltk T A 2: 119,755,705 T21S probably benign Het
Lvrn A T 18: 46,864,666 probably benign Het
Maob G A X: 16,712,642 A424V probably damaging Het
Myo1g C A 11: 6,515,856 V410F possibly damaging Het
Naxe T C 3: 88,056,674 H250R probably damaging Het
Nek5 T C 8: 22,111,183 N174S possibly damaging Het
Olfr1158 A G 2: 87,990,944 T278A probably benign Het
Olfr131 G T 17: 38,082,107 N290K probably damaging Het
Olfr606 C T 7: 103,451,795 R153W probably damaging Het
Pex1 A G 5: 3,606,027 T285A probably benign Het
Pfas A G 11: 69,001,260 S141P probably benign Het
Pmm1 T C 15: 81,955,744 T127A probably damaging Het
Proc C A 18: 32,123,820 probably benign Het
Ranbp9 T C 13: 43,480,504 E142G probably damaging Het
Recql4 C A 15: 76,709,912 probably benign Het
Robo4 C T 9: 37,413,040 P955S possibly damaging Het
Ryr3 T A 2: 112,709,073 N3274I probably damaging Het
Serpinb10 T C 1: 107,540,882 probably benign Het
Slc9c1 A T 16: 45,584,448 K848* probably null Het
Slfn5 A G 11: 82,956,981 T231A probably damaging Het
Syncrip T C 9: 88,456,607 probably benign Het
Syt16 A T 12: 74,266,739 T480S probably damaging Het
Taf1c G A 8: 119,601,192 T293M probably benign Het
Tbc1d5 T C 17: 50,813,798 D430G possibly damaging Het
Tbx18 T C 9: 87,724,331 T254A probably damaging Het
Tpm1 C T 9: 67,036,055 R105H probably damaging Het
Usp17la T C 7: 104,861,315 S376P probably benign Het
Vmn1r19 A G 6: 57,405,194 D244G probably damaging Het
Vmn1r58 A T 7: 5,411,055 F59I probably benign Het
Vmn2r45 A T 7: 8,485,623 M136K probably benign Het
Vmn2r70 T A 7: 85,569,019 R24* probably null Het
Vmn2r75 T A 7: 86,148,593 I671F probably damaging Het
Other mutations in AI464131
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:AI464131 APN 4 41499469 nonsense probably null
IGL01384:AI464131 APN 4 41498151 missense probably damaging 0.99
IGL02150:AI464131 APN 4 41499183 missense possibly damaging 0.48
IGL02557:AI464131 APN 4 41497900 missense possibly damaging 0.51
R0238:AI464131 UTSW 4 41498912 missense probably benign 0.11
R0238:AI464131 UTSW 4 41498912 missense probably benign 0.11
R0413:AI464131 UTSW 4 41498585 missense probably benign 0.00
R0455:AI464131 UTSW 4 41499538 nonsense probably null
R0511:AI464131 UTSW 4 41498538 missense probably damaging 0.96
R0560:AI464131 UTSW 4 41498167 missense probably damaging 0.99
R0785:AI464131 UTSW 4 41497539 missense probably benign 0.02
R0940:AI464131 UTSW 4 41497996 missense probably damaging 1.00
R1677:AI464131 UTSW 4 41497947 missense probably benign 0.00
R1762:AI464131 UTSW 4 41498553 missense possibly damaging 0.91
R1984:AI464131 UTSW 4 41497501 missense possibly damaging 0.95
R2192:AI464131 UTSW 4 41497704 missense probably damaging 0.99
R2496:AI464131 UTSW 4 41499165 missense probably benign 0.28
R4212:AI464131 UTSW 4 41498307 missense probably benign 0.01
R4321:AI464131 UTSW 4 41498767 missense probably benign 0.00
R4672:AI464131 UTSW 4 41499061 missense probably benign 0.00
R4890:AI464131 UTSW 4 41498877 missense probably benign 0.00
R4954:AI464131 UTSW 4 41498241 missense possibly damaging 0.89
R5177:AI464131 UTSW 4 41498407 nonsense probably null
R5967:AI464131 UTSW 4 41497830 missense probably benign 0.00
R6005:AI464131 UTSW 4 41498895 missense probably benign 0.31
R6128:AI464131 UTSW 4 41498445 missense probably damaging 1.00
R6162:AI464131 UTSW 4 41497899 missense possibly damaging 0.51
R7202:AI464131 UTSW 4 41498268 missense probably damaging 0.99
R7211:AI464131 UTSW 4 41498028 missense probably damaging 1.00
R7311:AI464131 UTSW 4 41498577 missense probably damaging 1.00
R7524:AI464131 UTSW 4 41498779 missense probably benign 0.03
R7680:AI464131 UTSW 4 41497978 missense probably damaging 1.00
R8177:AI464131 UTSW 4 41497568 nonsense probably null
X0024:AI464131 UTSW 4 41498107 missense possibly damaging 0.92
Z1088:AI464131 UTSW 4 41497557 missense probably benign 0.00
Posted On2013-10-07