Mutagenetix > Incidental Mutation

Incidental Mutation 'R5180:Tmem71'

399776

Institutional Source

Beutler Lab

Gene Symbol

Tmem71

Ensembl Gene

ENSMUSG00000036944

Gene Name

transmembrane protein 71

Synonyms

MMRRC Submission

042760-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R5180 (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: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,466,510	T4091A	probably benign	Het
Adgrv1	G	A	13: 81,283,416		probably benign	Het
Ago3	C	T	4: 126,367,751	V435I	probably benign	Het
Akap10	C	T	11: 61,916,189	A72T	probably damaging	Het
Ampd2	G	T	3: 108,079,042	Q273K	probably benign	Het
Ankrd35	C	A	3: 96,680,473	H109Q	probably damaging	Het
Atpaf2	A	G	11: 60,405,869	L153S	possibly damaging	Het
C1qtnf7	G	A	5: 43,615,814	V152M	probably benign	Het
Ccnb1	C	G	13: 100,781,775	Q121H	possibly damaging	Het
Cep295	C	T	9: 15,332,120	C1680Y	probably benign	Het
Cyp4f15	A	T	17: 32,690,740	I104F	probably benign	Het
Daam1	A	G	12: 71,947,125	N434S	unknown	Het
Dab2ip	C	T	2: 35,720,491	P782L	possibly damaging	Het
Dhx34	C	A	7: 16,205,480	G663*	probably null	Het
Dnah7a	T	C	1: 53,423,287	D3715G	probably damaging	Het
Dnajc11	C	T	4: 151,969,939	R201C	probably damaging	Het
Erf	A	T	7: 25,246,265	I27N	probably damaging	Het
Fbxl7	T	A	15: 26,543,421	Y380F	probably damaging	Het
Gm3336	A	G	8: 70,720,461		probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gm5134	T	C	10: 75,976,366	Y152H	probably damaging	Het
Gm6899	A	G	11: 26,593,795		probably benign	Het
Gna11	T	C	10: 81,544,873	K19E	probably benign	Het
Gpr15	C	A	16: 58,717,885	L280F	probably benign	Het
Grhl3	T	A	4: 135,559,104	K89*	probably null	Het
Ino80d	C	A	1: 63,086,329		probably benign	Het
Irak3	T	G	10: 120,145,782	K406T	probably damaging	Het
Kif15	G	A	9: 122,999,210	C634Y	probably damaging	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Macrod2	A	T	2: 140,395,716	E14V	probably damaging	Het
Matn3	T	A	12: 8,955,374	D261E	probably benign	Het
Mdga1	A	T	17: 29,857,736		probably benign	Het
Natd1	G	T	11: 60,913,656	R24S	probably benign	Het
Ncapd3	T	A	9: 27,051,645	D415E	possibly damaging	Het
Olfr1453	A	T	19: 13,027,412	S306T	probably benign	Het
Parp9	T	A	16: 35,953,736	Y81*	probably null	Het
Pde4d	A	G	13: 109,740,473	N73S	probably benign	Het
Pigb	A	T	9: 73,034,590	I129N	probably damaging	Het
Plxnb1	C	A	9: 109,111,693		probably null	Het
Ppfibp1	G	T	6: 147,027,321	R813L	probably damaging	Het
Ramp3	T	A	11: 6,658,619	L16Q	unknown	Het
Slc35a4	T	C	18: 36,682,635	S173P	probably benign	Het
Slc41a1	T	C	1: 131,844,377	V415A	probably damaging	Het
Smarcc2	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	10: 128,487,362		probably benign	Het
Snph	G	A	2: 151,600,387	R43W	probably benign	Het
Sptan1	A	T	2: 29,993,724		probably benign	Het
Supt20	C	A	3: 54,709,085	H254Q	probably benign	Het
Taar7a	A	G	10: 23,993,148	C112R	probably damaging	Het
Tbc1d4	T	C	14: 101,507,572	Y206C	probably damaging	Het
Tecta	A	G	9: 42,337,208	V1961A	probably damaging	Het
Tgfbr1	T	A	4: 47,383,948	Y30*	probably null	Het
Tnfrsf1b	C	A	4: 145,227,497	C94F	probably damaging	Het
Ttn	A	G	2: 76,749,396	Y23718H	probably damaging	Het
Ube2i	T	C	17: 25,265,294		probably benign	Het
Vmn2r16	G	T	5: 109,330,525	V49F	probably benign	Het
Vps45	A	G	3: 96,046,371	I223T	possibly damaging	Het
Zfp955a	T	C	17: 33,242,618	Y180C	probably benign	Het
Zhx1	C	G	15: 58,054,074	G259R	probably damaging	Het
Zscan18	T	A	7: 12,775,289		probably benign	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
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

Posted On

2016-07-06