Mutagenetix > Incidental Mutation

Incidental Mutation 'R5736:Tmem71'

501408

Institutional Source

Beutler Lab

Gene Symbol

Tmem71

Ensembl Gene

ENSMUSG00000036944

Gene Name

transmembrane protein 71

Synonyms

MMRRC Submission

043194-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R5736 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66398061-66432952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66404496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 264 (V264I)

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: V264I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000044493
Gene: ENSMUSG00000036944
AA Change: V264I

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

1x: 99.0%
3x: 98.2%
10x: 96.5%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630095N17Rik	G	A	1: 75,197,211 (GRCm39)		probably benign	Het
Akt1	G	A	12: 112,623,284 (GRCm39)	R367C	probably benign	Het
Arl8a	T	A	1: 135,082,458 (GRCm39)	S150T	probably benign	Het
B020004C17Rik	A	T	14: 57,254,823 (GRCm39)	T216S	possibly damaging	Het
Casz1	G	A	4: 149,013,867 (GRCm39)	V144I	probably benign	Het
Cd274	G	T	19: 29,359,940 (GRCm39)	L248F	probably benign	Het
Crisp4	T	C	1: 18,185,939 (GRCm39)	T266A	probably benign	Het
Dlx6	A	T	6: 6,863,660 (GRCm39)	H94L	probably damaging	Het
Exoc1	A	G	5: 76,685,615 (GRCm39)	N109S	possibly damaging	Het
Grik2	T	C	10: 49,280,506 (GRCm39)	E128G	probably damaging	Het
Hs3st4	G	A	7: 123,996,662 (GRCm39)	E443K	probably damaging	Het
Ihh	T	C	1: 74,985,286 (GRCm39)	T400A	probably benign	Het
Lamb1	T	A	12: 31,352,664 (GRCm39)	C806*	probably null	Het
Lrrn1	T	C	6: 107,544,345 (GRCm39)	S48P	probably damaging	Het
Lsm11	T	C	11: 45,835,594 (GRCm39)	N49S	possibly damaging	Het
Map3k11	C	T	19: 5,746,739 (GRCm39)	A507V	probably damaging	Het
Mill2	A	T	7: 18,592,174 (GRCm39)	Q265L	probably benign	Het
Odad2	T	C	18: 7,268,416 (GRCm39)	T368A	probably benign	Het
Or4s2b	T	C	2: 88,508,985 (GRCm39)	M255T	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Peg10	T	A	6: 4,754,423 (GRCm39)	L68Q	probably benign	Het
Phka2	ACC	AC	X: 159,342,862 (GRCm39)		probably null	Het
Prkag2	A	T	5: 25,083,720 (GRCm39)	Y88N	probably damaging	Het
Prmt5	A	C	14: 54,752,297 (GRCm39)	D166E	probably null	Het
Robo4	A	T	9: 37,316,093 (GRCm39)	T366S	possibly damaging	Het
Samd3	T	C	10: 26,146,070 (GRCm39)	I365T	probably damaging	Het
Sdf2l1	A	T	16: 16,949,571 (GRCm39)	C92S	probably damaging	Het
Serpinb6e	A	G	13: 34,016,753 (GRCm39)	F327L	probably damaging	Het
Slc17a6	G	A	7: 51,294,841 (GRCm39)	V183I	possibly damaging	Het
Slc6a11	T	C	6: 114,139,123 (GRCm39)	S244P	probably damaging	Het
Slc6a5	A	G	7: 49,609,102 (GRCm39)	D769G	probably benign	Het
Slc7a14	A	T	3: 31,278,059 (GRCm39)	D515E	probably benign	Het
Slco2a1	A	T	9: 102,945,029 (GRCm39)	S135C	probably benign	Het
Spidr	A	T	16: 15,715,162 (GRCm39)	D801E	probably damaging	Het
Spta1	T	C	1: 174,041,821 (GRCm39)		probably null	Het
Zfp563	G	T	17: 33,323,960 (GRCm39)	R185L	possibly damaging	Het
Zfp941	G	A	7: 140,392,973 (GRCm39)	P129S	probably benign	Het

Other mutations in Tmem71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02183:Tmem71	APN	15	66,426,874 (GRCm39)	splice site	probably benign
IGL02517:Tmem71	APN	15	66,413,466 (GRCm39)	missense	probably benign
R1766:Tmem71	UTSW	15	66,413,548 (GRCm39)	missense	probably benign	0.00
R2321:Tmem71	UTSW	15	66,423,849 (GRCm39)	missense	possibly damaging	0.73
R4965:Tmem71	UTSW	15	66,410,710 (GRCm39)	missense	probably benign
R5180:Tmem71	UTSW	15	66,427,063 (GRCm39)	missense	probably benign	0.01
R5181:Tmem71	UTSW	15	66,427,063 (GRCm39)	missense	probably benign	0.01
R5324:Tmem71	UTSW	15	66,427,063 (GRCm39)	missense	probably benign	0.01
R6684:Tmem71	UTSW	15	66,413,539 (GRCm39)	missense	possibly damaging	0.74
R8278:Tmem71	UTSW	15	66,426,961 (GRCm39)	missense	probably damaging	1.00
R8443:Tmem71	UTSW	15	66,413,421 (GRCm39)	critical splice donor site	probably null
R8808:Tmem71	UTSW	15	66,410,655 (GRCm39)	missense	possibly damaging	0.87
R8906:Tmem71	UTSW	15	66,404,606 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CCTCCATGTAGCTCTTACTTAGCAG -3'
(R):5'- CACTGCATGTGCTGGAAATTCAG -3'

Sequencing Primer
(F):5'- GCAGAAGTACCATTTCTTACTTAGC -3'
(R):5'- GCTGGAAATTCAGGGTTAATATGC -3'

Posted On

2017-12-01