Incidental Mutation 'IGL01371:Gm43191'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm43191
Ensembl Gene ENSMUSG00000105103
Gene Namepredicted gene 43191
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01371
Quality Score
Chromosomal Location116641902-116681260 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 116645463 bp
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

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

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