Incidental Mutation 'IGL01371:Gm43191'
ID76142
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm43191
Ensembl Gene ENSMUSG00000105103
Gene Namepredicted gene 43191
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01371
Quality Score
Status
Chromosome3
Chromosomal Location116641902-116681260 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 116645463 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 130 (I130N)
Ref Sequence ENSEMBL: ENSMUSP00000029570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029570]
Predicted Effect probably damaging
Transcript: ENSMUST00000029570
AA Change: I130N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029570
Gene: ENSMUSG00000089911
AA Change: I130N

DomainStartEndE-ValueType
Pfam:MFS_1 40 388 3.4e-33 PFAM
Pfam:MFS_2 182 407 3.6e-10 PFAM
transmembrane domain 425 447 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138418
Predicted Effect unknown
Transcript: ENSMUST00000140672
AA Change: I193N
SMART Domains Protein: ENSMUSP00000114952
Gene: ENSMUSG00000105103
AA Change: I193N

DomainStartEndE-ValueType
Pfam:Nuc_sug_transp 2 129 2.4e-39 PFAM
Pfam:MFS_1 104 235 1e-13 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik T C 9: 103,254,776 E504G possibly damaging Het
Abcc9 C T 6: 142,656,614 R691Q probably benign Het
AI314180 A G 4: 58,809,718 L1583P probably damaging Het
Ambra1 G T 2: 91,825,286 G700W probably damaging Het
Atp6v1c1 A G 15: 38,682,960 I198V probably benign Het
Bptf T C 11: 107,055,907 N2353S probably benign Het
Cd84 A T 1: 171,886,370 T312S probably benign Het
Chl1 G T 6: 103,715,364 C1064F probably damaging Het
Clca4a T C 3: 144,960,672 D473G probably damaging Het
Dsp A G 13: 38,193,617 R1793G probably benign Het
Dync1h1 A G 12: 110,638,851 N2374S probably benign Het
Gm5134 T G 10: 76,004,747 L475R probably damaging Het
Grm1 A G 10: 10,720,039 V615A probably benign Het
Loxl1 T A 9: 58,294,422 Q462L possibly damaging Het
Nwd1 T C 8: 72,675,115 W755R probably damaging Het
Olfr1102 A T 2: 87,002,923 K318M probably benign Het
Olfr1408 A G 1: 173,130,531 S229P possibly damaging Het
Olfr1459 G A 19: 13,145,828 T277I possibly damaging Het
Otud4 T C 8: 79,673,761 F1034L probably damaging Het
Pakap C A 4: 57,856,325 D551E probably benign Het
Panx3 T G 9: 37,661,475 T260P probably benign Het
Ppfia4 A T 1: 134,328,086 S194T probably benign Het
Rnf135 T A 11: 80,189,255 I124N probably benign Het
Rpf1 T C 3: 146,507,547 N283S probably damaging Het
Smg5 A G 3: 88,359,644 probably benign Het
Stard9 A G 2: 120,701,368 E2702G probably benign Het
Tbk1 A T 10: 121,559,871 M439K probably benign Het
Tmem235 T C 11: 117,862,306 L85P possibly damaging Het
Trhde A T 10: 114,588,500 V460E possibly damaging Het
Ttn T C 2: 76,790,264 probably benign Het
Vmn1r83 A G 7: 12,321,233 F299S probably benign Het
Other mutations in Gm43191
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01632:Gm43191 APN 3 116651467 missense probably damaging 1.00
IGL01691:Gm43191 APN 3 116677967 missense probably benign 0.00
Posted On2013-10-07