Mutagenetix > Incidental Mutation

Incidental Mutation 'R2321:Tmem71'

245656

Institutional Source

Beutler Lab

Gene Symbol

Tmem71

Ensembl Gene

ENSMUSG00000036944

Gene Name

transmembrane protein 71

Synonyms

MMRRC Submission

040313-MU

Accession Numbers

Essential gene?

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

Stock #

R2321 (G1)

Quality Score

115

Status

Validated

Chromosome

Chromosomal Location

66526212-66561103 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 66552000 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 139 (D139A)

Ref Sequence

ENSEMBL: ENSMUSP00000044493 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048372
AA Change: D139A

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044493
Gene: ENSMUSG00000036944
AA Change: D139A

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,580,386	A115T	probably benign	Het
Abcf2	A	T	5: 24,567,253	Y492*	probably null	Het
Adcy9	A	G	16: 4,288,268	V994A	probably damaging	Het
Arhgef40	T	C	14: 51,994,276		probably benign	Het
Bhlha15	T	C	5: 144,191,196	L42P	probably damaging	Het
Clca4b	C	A	3: 144,932,373	A43S	probably benign	Het
Cpq	A	G	15: 33,594,145	H434R	probably benign	Het
Crybg2	A	G	4: 134,074,511	E994G	probably benign	Het
Dcaf1	T	C	9: 106,838,473	L263S	probably benign	Het
Dnajc12	G	T	10: 63,407,211		probably benign	Het
Fbxo32	T	C	15: 58,191,293	I215V	possibly damaging	Het
Krtap17-1	T	C	11: 99,993,920	D7G	unknown	Het
Men1	A	G	19: 6,339,838	D466G	possibly damaging	Het
Myh15	T	A	16: 49,113,073	F624I	possibly damaging	Het
Ncam1	A	C	9: 49,544,832		probably benign	Het
Olfr1389	A	G	11: 49,431,280	N268S	probably benign	Het
Otol1	T	A	3: 70,018,525	L11*	probably null	Het
Plekhg4	T	C	8: 105,377,540	S447P	probably benign	Het
Pnmal2	G	T	7: 16,945,565	R158L	unknown	Het
Ppp1r2	A	T	16: 31,265,303		probably null	Het
Rad51ap2	G	A	12: 11,457,057	G327R	probably damaging	Het
Rbm26	T	C	14: 105,153,427	T208A	unknown	Het
Reln	T	C	5: 21,915,020	Y2878C	probably damaging	Het
Rnps1	T	A	17: 24,422,168	F181I	probably damaging	Het
Senp6	A	C	9: 80,123,740	I575L	possibly damaging	Het
Serpinh1	T	C	7: 99,346,385	D330G	probably damaging	Het
Slamf9	G	T	1: 172,477,413	C198F	probably damaging	Het
Slc22a13	A	T	9: 119,195,628	V261D	possibly damaging	Het
Slc26a4	A	G	12: 31,540,544	V370A	probably damaging	Het
Tasp1	A	G	2: 140,057,412	M7T	probably benign	Het
Tet2	T	C	3: 133,486,339	N778S	possibly damaging	Het
Tm9sf4	T	A	2: 153,204,586	Y582N	probably damaging	Het
Tmem131l	T	A	3: 83,936,023	H508L	probably damaging	Het
Uroc1	A	G	6: 90,347,247	R418G	possibly damaging	Het
Wdr64	A	C	1: 175,795,087	K810T	possibly damaging	Het
Zgrf1	C	A	3: 127,562,407	Y427*	probably null	Het

Other mutations in Tmem71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02183:Tmem71	APN	15	66555025	splice site	probably benign
IGL02517:Tmem71	APN	15	66541617	missense	probably benign
R1766:Tmem71	UTSW	15	66541699	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- GAAATTTTAATCTCTGGCTTCACCC -3'
(R):5'- GTGTGTCAAGTCATTACCACAGG -3'

Sequencing Primer
(F):5'- TCACCCTCTCCATTAAAATATTAGCC -3'
(R):5'- GGATTGTTTCCAACCCAAAGTGACTG -3'

Posted On

2014-10-30