Incidental Mutation 'IGL02715:Tmem38a'
ID304712
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem38a
Ensembl Gene ENSMUSG00000031791
Gene Nametransmembrane protein 38A
Synonyms1110001E17Rik, TRIC-A
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02715
Quality Score
Status
Chromosome8
Chromosomal Location72572055-72587282 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 72579668 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 77 (I77T)
Ref Sequence ENSEMBL: ENSMUSP00000148844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034244] [ENSMUST00000211914] [ENSMUST00000212763]
Predicted Effect probably benign
Transcript: ENSMUST00000034244
AA Change: I77T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000034244
Gene: ENSMUSG00000031791
AA Change: I77T

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:TRIC 40 231 5.5e-84 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000211914
AA Change: I77T

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000212763
AA Change: I77T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,198,888 I57V probably damaging Het
Abce1 T A 8: 79,690,361 E340D probably damaging Het
Agbl2 C T 2: 90,805,868 R583W probably damaging Het
Aig1 A G 10: 13,868,616 probably null Het
Brd3 C A 2: 27,454,483 A412S possibly damaging Het
C3 A G 17: 57,204,158 probably benign Het
Ccdc127 A G 13: 74,356,774 E147G probably benign Het
Chrna4 A G 2: 181,029,581 probably benign Het
Cnn2 T C 10: 79,993,489 L151P probably damaging Het
Col11a1 G T 3: 114,129,409 M7I probably benign Het
Fam173b A G 15: 31,606,003 T36A probably benign Het
Fastkd1 A G 2: 69,712,125 probably null Het
Fcho2 A G 13: 98,796,335 M53T probably damaging Het
Fmnl2 T C 2: 53,072,210 Y236H possibly damaging Het
G6bos A G 17: 35,065,561 probably null Het
Gm5483 T C 16: 36,187,945 I67T possibly damaging Het
Gramd1a C T 7: 31,135,854 G436D probably damaging Het
Hivep2 A G 10: 14,131,387 Y1243C probably benign Het
Lrit2 A G 14: 37,072,548 D523G probably benign Het
Lrrc2 A C 9: 110,970,114 D177A probably damaging Het
Lyst T A 13: 13,674,320 probably null Het
Mrgpra6 A T 7: 47,188,648 probably benign Het
Myh6 T C 14: 54,946,908 probably benign Het
Myzap C A 9: 71,515,115 E392* probably null Het
Ndst3 G A 3: 123,546,761 probably benign Het
Nlrc5 C A 8: 94,474,668 P130H probably damaging Het
Obscn T C 11: 59,080,311 T2526A probably benign Het
Olfr385 T A 11: 73,589,121 I206F probably benign Het
Pcnt C A 10: 76,368,722 probably benign Het
Pfpl T A 19: 12,429,781 C465* probably null Het
Pkd1l3 T A 8: 109,626,826 C680S probably damaging Het
Ppp1r10 G T 17: 35,930,712 G793V unknown Het
Prss27 A T 17: 24,044,979 D213V possibly damaging Het
Sh2d5 T C 4: 138,256,707 probably benign Het
Spata31d1a T C 13: 59,703,735 D193G probably benign Het
Sptan1 T C 2: 29,978,576 V66A probably benign Het
Synpr T C 14: 13,608,618 S133P probably damaging Het
Tagln3 T C 16: 45,724,225 N28D probably benign Het
Tfrc A G 16: 32,624,371 T494A probably benign Het
Tmem42 C A 9: 123,022,230 T86N probably damaging Het
Ttc8 T A 12: 98,943,920 probably benign Het
Tub G A 7: 109,029,310 V342I probably benign Het
Vmn2r103 A T 17: 19,793,956 I337F probably damaging Het
Xkr7 A G 2: 153,054,357 E377G probably damaging Het
Zfp292 C T 4: 34,819,542 G260D probably damaging Het
Other mutations in Tmem38a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02572:Tmem38a APN 8 72579974 missense probably damaging 0.99
IGL02967:Tmem38a APN 8 72586082 missense possibly damaging 0.95
R0631:Tmem38a UTSW 8 72580018 missense probably benign 0.05
R1073:Tmem38a UTSW 8 72580103 missense probably damaging 1.00
R1161:Tmem38a UTSW 8 72579970 missense probably damaging 1.00
R1310:Tmem38a UTSW 8 72579970 missense probably damaging 1.00
R1489:Tmem38a UTSW 8 72579635 missense probably damaging 1.00
R2040:Tmem38a UTSW 8 72581252 missense probably damaging 1.00
R4508:Tmem38a UTSW 8 72572161 missense possibly damaging 0.91
R4515:Tmem38a UTSW 8 72572161 missense possibly damaging 0.91
R4517:Tmem38a UTSW 8 72572161 missense possibly damaging 0.91
R4521:Tmem38a UTSW 8 72572161 missense possibly damaging 0.91
R4522:Tmem38a UTSW 8 72572161 missense possibly damaging 0.91
R4529:Tmem38a UTSW 8 72572161 missense possibly damaging 0.91
R4867:Tmem38a UTSW 8 72581233 missense possibly damaging 0.80
R5200:Tmem38a UTSW 8 72580034 missense probably damaging 1.00
R5807:Tmem38a UTSW 8 72580100 missense probably damaging 1.00
R5882:Tmem38a UTSW 8 72585887 missense probably damaging 1.00
R7803:Tmem38a UTSW 8 72572120 missense probably benign 0.01
Posted On2015-04-16