Mutagenetix > Incidental Mutation

Incidental Mutation 'R5324:Tmem71'

405034

Institutional Source

Beutler Lab

Gene Symbol

Tmem71

Ensembl Gene

ENSMUSG00000036944

Gene Name

transmembrane protein 71

Synonyms

MMRRC Submission

042907-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R5324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66526212-66561103 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66555214 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 44 (S44N)

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: S44N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000044493
Gene: ENSMUSG00000036944
AA Change: S44N

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: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	G	T	7: 127,384,907		probably benign	Het
Akap10	C	T	11: 61,916,189	A72T	probably damaging	Het
Ap5b1	G	A	19: 5,569,835	E428K	possibly damaging	Het
Bmp2	C	T	2: 133,561,359	R277*	probably null	Het
Cbl	A	T	9: 44,154,254	S659T	probably damaging	Het
Col14a1	A	T	15: 55,338,445	H43L	unknown	Het
Corin	A	G	5: 72,435,257	C133R	probably damaging	Het
Cyp1a1	A	G	9: 57,702,369	N401S	probably benign	Het
Dip2a	T	C	10: 76,296,393	D508G	probably damaging	Het
Dnah2	T	A	11: 69,457,993	H2556L	probably benign	Het
Dock8	T	C	19: 25,163,094	F1333L	probably benign	Het
Epg5	A	G	18: 77,962,445	K717E	possibly damaging	Het
Fmn2	G	A	1: 174,608,880		probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Hbp1	T	C	12: 31,928,618	N510S	probably damaging	Het
Lrguk	T	C	6: 34,073,797	S397P	possibly damaging	Het
Mmrn1	A	T	6: 60,976,586	D617V	probably damaging	Het
Mroh9	C	G	1: 163,060,760	G249R	probably damaging	Het
N6amt1	A	G	16: 87,354,353	D34G	probably damaging	Het
Nktr	A	T	9: 121,727,346	D30V	probably damaging	Het
Olfr1151	A	T	2: 87,857,696	I174F	probably damaging	Het
Olfr598	T	A	7: 103,329,050	M188K	probably damaging	Het
Olfr805	T	A	10: 129,722,945	I200L	probably benign	Het
Pabpc1	A	G	15: 36,600,625	F314L	probably damaging	Het
Papln	G	A	12: 83,774,571	V226M	probably damaging	Het
Parp12	A	T	6: 39,102,612	D321E	probably damaging	Het
Plch2	T	A	4: 154,984,534	T1107S	probably benign	Het
Psma2	T	C	13: 14,625,217	L182P	probably damaging	Het
Rcl1	A	G	19: 29,128,001	Y196C	probably benign	Het
Rdh16	G	A	10: 127,801,267	V24M	probably damaging	Het
Rpe65	A	G	3: 159,604,404	T105A	possibly damaging	Het
Serpini1	T	C	3: 75,640,294	I371T	probably damaging	Het
Tet2	T	C	3: 133,485,913	N920S	probably benign	Het
Tmprss11f	T	A	5: 86,556,978	D27V	possibly damaging	Het
Zxdc	T	A	6: 90,373,800	I411N	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
IGL02517:Tmem71	APN	15	66541617	missense	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
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

Posted On

2016-07-22