Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02967:Tmem38a'

365638

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem38a

Ensembl Gene

ENSMUSG00000031791

Gene Name

transmembrane protein 38A

Synonyms

1110001E17Rik, TRIC-A

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02967

Quality Score

Status

Chromosome

Chromosomal Location

73325899-73341126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73339926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 298 (D298V)

Ref Sequence

ENSEMBL: ENSMUSP00000034244 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034244] [ENSMUST00000211914] [ENSMUST00000212763]

AlphaFold

Q3TMP8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034244
AA Change: D298V

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034244
Gene: ENSMUSG00000031791
AA Change: D298V

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:TRIC	40	231	5.5e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211914

Predicted Effect

probably benign
Transcript: ENSMUST00000212763

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,328,291 (GRCm39)	T3455A	probably damaging	Het
Abca8a	G	A	11: 109,941,762 (GRCm39)	P1169L	probably damaging	Het
Ablim3	T	A	18: 61,959,574 (GRCm39)	K272*	probably null	Het
Abtb3	A	G	10: 85,469,646 (GRCm39)	T856A	probably benign	Het
Acin1	A	G	14: 54,880,210 (GRCm39)	V574A	possibly damaging	Het
Acot4	A	T	12: 84,090,235 (GRCm39)	I311L	probably benign	Het
Akap9	C	T	5: 4,026,164 (GRCm39)	A1273V	probably benign	Het
Ap1g2	T	A	14: 55,342,479 (GRCm39)		probably benign	Het
Apob	A	T	12: 8,065,366 (GRCm39)	K4112*	probably null	Het
Aspdh	A	G	7: 44,114,963 (GRCm39)		probably null	Het
Atf7ip	T	C	6: 136,583,725 (GRCm39)	I1252T	probably damaging	Het
Avpr1a	A	G	10: 122,285,367 (GRCm39)	T220A	possibly damaging	Het
Bdp1	A	G	13: 100,178,778 (GRCm39)	F1856S	possibly damaging	Het
Cit	A	T	5: 116,083,896 (GRCm39)	N743I	probably benign	Het
Clvs2	T	C	10: 33,471,784 (GRCm39)	K174E	probably damaging	Het
Cyp4f40	A	T	17: 32,893,222 (GRCm39)	Q351L	probably damaging	Het
Dmbt1	G	T	7: 130,672,919 (GRCm39)	V550L	possibly damaging	Het
Edem1	T	G	6: 108,813,738 (GRCm39)	S178A	probably damaging	Het
Fam222b	C	T	11: 78,044,934 (GRCm39)	A165V	probably benign	Het
Fer	T	C	17: 64,203,262 (GRCm39)	V64A	possibly damaging	Het
Fggy	T	G	4: 95,814,986 (GRCm39)	F535C	possibly damaging	Het
Fkbp15	A	T	4: 62,222,627 (GRCm39)	S1091T	probably damaging	Het
Fstl5	G	A	3: 76,229,498 (GRCm39)	V100M	probably damaging	Het
Fut7	G	T	2: 25,315,155 (GRCm39)	V91L	probably damaging	Het
Gemin4	A	T	11: 76,103,067 (GRCm39)	C565S	probably damaging	Het
Gzmm	C	T	10: 79,530,897 (GRCm39)	T233I	possibly damaging	Het
Hps5	A	T	7: 46,418,804 (GRCm39)	L789Q	possibly damaging	Het
Krt32	G	A	11: 99,974,876 (GRCm39)	S357F	possibly damaging	Het
Lrig2	C	T	3: 104,401,512 (GRCm39)		probably benign	Het
Lrp8	C	A	4: 107,718,431 (GRCm39)	Q678K	probably benign	Het
Mmp27	C	A	9: 7,571,591 (GRCm39)	Q45K	probably benign	Het
Myh1	A	G	11: 67,099,896 (GRCm39)	D602G	possibly damaging	Het
Ncoa1	G	T	12: 4,345,294 (GRCm39)	H684Q	probably damaging	Het
Nol9	T	C	4: 152,125,559 (GRCm39)	V170A	possibly damaging	Het
Notch2	A	G	3: 98,053,460 (GRCm39)	D2041G	probably damaging	Het
Nrg3	G	T	14: 38,390,256 (GRCm39)		probably benign	Het
Nuak1	T	A	10: 84,276,085 (GRCm39)	H46L	probably damaging	Het
Pdzd2	G	T	15: 12,374,427 (GRCm39)	Q1903K	probably benign	Het
Pik3c2g	T	C	6: 139,913,554 (GRCm39)	V616A	probably damaging	Het
Ppp6c	A	G	2: 39,116,229 (GRCm39)	Y9H	probably damaging	Het
Prdm11	A	T	2: 92,843,234 (GRCm39)	F75Y	probably damaging	Het
Prelid1	G	A	13: 55,472,219 (GRCm39)	V132I	probably benign	Het
Prom1	A	G	5: 44,201,740 (GRCm39)	S227P	probably damaging	Het
Psmb5	G	A	14: 54,854,083 (GRCm39)	R132C	probably benign	Het
Pus10	A	G	11: 23,668,602 (GRCm39)	N360D	probably damaging	Het
Pygm	G	A	19: 6,443,868 (GRCm39)	V610M	probably damaging	Het
Setd1a	A	G	7: 127,384,349 (GRCm39)		probably benign	Het
Sfmbt1	T	A	14: 30,538,759 (GRCm39)	W793R	probably damaging	Het
Slc25a4	A	G	8: 46,662,187 (GRCm39)	L157P	probably damaging	Het
Sost	T	G	11: 101,855,084 (GRCm39)	E75A	possibly damaging	Het
Tdrd9	A	G	12: 111,958,922 (GRCm39)	S119G	possibly damaging	Het
Tepsin	A	G	11: 119,984,954 (GRCm39)	I238T	probably benign	Het
Tfr2	T	A	5: 137,581,081 (GRCm39)	L507*	probably null	Het
Tmem106a	T	C	11: 101,477,121 (GRCm39)	I110T	possibly damaging	Het
Tmprss12	A	T	15: 100,183,262 (GRCm39)	R201S	probably benign	Het
Ugt2b36	T	C	5: 87,238,759 (GRCm39)	T271A	possibly damaging	Het
Virma	T	G	4: 11,514,096 (GRCm39)	V650G	probably benign	Het
Vmn1r220	A	T	13: 23,368,162 (GRCm39)	I178N	probably damaging	Het
Zfp609	A	G	9: 65,604,901 (GRCm39)	S1276P	possibly damaging	Het
Zfp809	A	G	9: 22,146,398 (GRCm39)	Y29C	probably damaging	Het

Other mutations in Tmem38a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02572:Tmem38a	APN	8	73,333,818 (GRCm39)	missense	probably damaging	0.99
IGL02715:Tmem38a	APN	8	73,333,512 (GRCm39)	missense	possibly damaging	0.69
R0631:Tmem38a	UTSW	8	73,333,862 (GRCm39)	missense	probably benign	0.05
R1073:Tmem38a	UTSW	8	73,333,947 (GRCm39)	missense	probably damaging	1.00
R1161:Tmem38a	UTSW	8	73,333,814 (GRCm39)	missense	probably damaging	1.00
R1310:Tmem38a	UTSW	8	73,333,814 (GRCm39)	missense	probably damaging	1.00
R1489:Tmem38a	UTSW	8	73,333,479 (GRCm39)	missense	probably damaging	1.00
R2040:Tmem38a	UTSW	8	73,335,096 (GRCm39)	missense	probably damaging	1.00
R4508:Tmem38a	UTSW	8	73,326,005 (GRCm39)	missense	possibly damaging	0.91
R4515:Tmem38a	UTSW	8	73,326,005 (GRCm39)	missense	possibly damaging	0.91
R4517:Tmem38a	UTSW	8	73,326,005 (GRCm39)	missense	possibly damaging	0.91
R4521:Tmem38a	UTSW	8	73,326,005 (GRCm39)	missense	possibly damaging	0.91
R4522:Tmem38a	UTSW	8	73,326,005 (GRCm39)	missense	possibly damaging	0.91
R4529:Tmem38a	UTSW	8	73,326,005 (GRCm39)	missense	possibly damaging	0.91
R4867:Tmem38a	UTSW	8	73,335,077 (GRCm39)	missense	possibly damaging	0.80
R5200:Tmem38a	UTSW	8	73,333,878 (GRCm39)	missense	probably damaging	1.00
R5807:Tmem38a	UTSW	8	73,333,944 (GRCm39)	missense	probably damaging	1.00
R5882:Tmem38a	UTSW	8	73,339,731 (GRCm39)	missense	probably damaging	1.00
R7803:Tmem38a	UTSW	8	73,325,964 (GRCm39)	missense	probably benign	0.01
R8945:Tmem38a	UTSW	8	73,338,570 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-12-18