Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02517:Tmem71'

296823

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem71

Ensembl Gene

ENSMUSG00000036944

Gene Name

transmembrane protein 71

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL02517

Quality Score

Status

Chromosome

Chromosomal Location

66526212-66561103 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 66541617 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 202 (V202G)

Ref Sequence

ENSEMBL: ENSMUSP00000044493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048372]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048372
AA Change: V202G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044493
Gene: ENSMUSG00000036944
AA Change: V202G

Domain	Start	End	E-Value	Type
Pfam:TMEM71	1	152	1.9e-85	PFAM
low complexity region	153	165	N/A	INTRINSIC
low complexity region	185	201	N/A	INTRINSIC
transmembrane domain	224	246	N/A	INTRINSIC
transmembrane domain	250	272	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,958,868	E1899G	probably damaging	Het
Acnat2	T	G	4: 49,380,647	M244L	possibly damaging	Het
Acnat2	A	T	4: 49,380,639	C228*	probably null	Het
Adam24	T	C	8: 40,680,179	S229P	probably damaging	Het
Alpk3	T	C	7: 81,077,895	S258P	probably benign	Het
Atad2b	A	G	12: 5,018,037	T1012A	probably benign	Het
C4b	A	T	17: 34,734,408	S1034T	probably benign	Het
Cd300ld2	T	A	11: 115,010,423	H277L	possibly damaging	Het
Chrna4	C	T	2: 181,029,133	V277I	probably benign	Het
Col3a1	A	G	1: 45,325,803		probably null	Het
Dpep2	C	T	8: 105,988,756	V369M	probably damaging	Het
Eml2	T	A	7: 19,206,130	N815K	probably damaging	Het
Enpp3	A	G	10: 24,809,848		probably benign	Het
Git1	T	C	11: 77,499,587	V86A	probably benign	Het
Hivep2	C	T	10: 14,131,182	P1175S	probably benign	Het
Hydin	T	C	8: 110,566,972	I3517T	probably benign	Het
Ift172	T	A	5: 31,253,648		probably null	Het
Jmy	A	G	13: 93,452,808	I647T	probably benign	Het
Kifap3	T	A	1: 163,825,871		probably benign	Het
Lama3	G	A	18: 12,537,858		probably null	Het
Lipa	A	C	19: 34,494,122	I351S	possibly damaging	Het
Ltbp2	G	T	12: 84,785,317	A1631D	probably benign	Het
Masp2	A	G	4: 148,614,020	I519M	probably damaging	Het
Mfsd6	A	G	1: 52,663,277		probably benign	Het
Numa1	T	G	7: 102,012,009	D1846E	probably benign	Het
Olfr12	A	T	1: 92,620,461	Y185F	probably benign	Het
Olfr1440	A	T	19: 12,394,901	I213F	probably benign	Het
Olfr745	A	G	14: 50,643,201	T301A	probably benign	Het
Olfr918	T	C	9: 38,672,913	Y177C	probably damaging	Het
Olfr968	T	G	9: 39,772,504	T99P	probably damaging	Het
Oog3	A	T	4: 144,159,350	I226K	probably damaging	Het
Pkdcc	T	C	17: 83,223,866	S435P	probably damaging	Het
Ppm1g	A	G	5: 31,208,081	Y70H	probably damaging	Het
Prcc	C	T	3: 87,869,677	S330N	probably damaging	Het
Ror2	A	T	13: 53,118,840	L251Q	probably damaging	Het
Scn11a	A	G	9: 119,792,398	L651P	probably damaging	Het
Skint6	A	T	4: 112,948,540		probably benign	Het
Slc23a4	A	G	6: 34,954,982	F186L	probably benign	Het
Slc30a8	A	T	15: 52,335,134	D325V	probably benign	Het
Son	C	T	16: 91,655,211	T282M	possibly damaging	Het
Tas2r118	A	T	6: 23,969,892	F57I	probably damaging	Het
Tcf7l1	A	G	6: 72,629,983	S447P	probably benign	Het
Thsd1	T	A	8: 22,243,438	V167E	probably damaging	Het
Tle3	T	C	9: 61,414,781	V696A	probably damaging	Het
Tmem67	A	T	4: 12,069,463	I405K	possibly damaging	Het
Trim6	T	C	7: 104,232,357		probably benign	Het
Trip12	A	G	1: 84,743,814		probably benign	Het
Ubr1	A	C	2: 120,864,373	C1693G	possibly damaging	Het
Ush2a	G	A	1: 188,915,998	R4600H	probably damaging	Het
Vil1	A	G	1: 74,426,692	I547M	probably benign	Het
Vmn1r219	A	T	13: 23,163,096	I152L	probably benign	Het
Vmn1r26	A	G	6: 58,009,142	F21L	possibly damaging	Het
Vmn2r45	T	A	7: 8,483,186	K368*	probably null	Het
Vmn2r68	C	T	7: 85,221,945	W710*	probably null	Het
Zfp808	T	A	13: 62,173,218	*754R	probably null	Het
Zyg11b	C	T	4: 108,266,318	E151K	probably damaging	Het

Other mutations in Tmem71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02183:Tmem71	APN	15	66555025	splice site	probably benign
R1766:Tmem71	UTSW	15	66541699	missense	probably benign	0.00
R2321:Tmem71	UTSW	15	66552000	missense	possibly damaging	0.73
R4965:Tmem71	UTSW	15	66538861	missense	probably benign
R5180:Tmem71	UTSW	15	66555214	missense	probably benign	0.01
R5181:Tmem71	UTSW	15	66555214	missense	probably benign	0.01
R5324:Tmem71	UTSW	15	66555214	missense	probably benign	0.01
R5736:Tmem71	UTSW	15	66532647	missense	probably benign	0.04
R6684:Tmem71	UTSW	15	66541690	missense	possibly damaging	0.74
R8278:Tmem71	UTSW	15	66555112	missense	probably damaging	1.00
R8443:Tmem71	UTSW	15	66541572	critical splice donor site	probably null
R8808:Tmem71	UTSW	15	66538806	missense	possibly damaging	0.87
R8906:Tmem71	UTSW	15	66532757	missense	probably benign	0.04

Posted On

2015-04-16