Mutagenetix > Incidental Mutation

Incidental Mutation 'R8808:Tmem71'

672240

Institutional Source

Beutler Lab

Gene Symbol

Tmem71

Ensembl Gene

ENSMUSG00000036944

Gene Name

transmembrane protein 71

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8808 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66526212-66561103 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66538806 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 239 (A239V)

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: A239V

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044493
Gene: ENSMUSG00000036944
AA Change: A239V

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

95% (60/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 138,070,113	P1688S	probably benign	Het
4933412E24Rik	T	C	15: 60,016,070	T174A	probably benign	Het
Actl10	T	A	2: 154,553,148	L340Q	probably damaging	Het
Adra1d	T	C	2: 131,561,477	E231G	probably damaging	Het
Agt	T	A	8: 124,564,289	D93V	probably benign	Het
Als2cl	G	T	9: 110,889,214	R341L	possibly damaging	Het
Ankrd63	G	T	2: 118,703,068	A124E	unknown	Het
Aqp8	T	C	7: 123,466,699	L239P	probably damaging	Het
Arhgef11	A	G	3: 87,686,029	E85G	probably damaging	Het
Cacng4	T	A	11: 107,794,383	I28F	possibly damaging	Het
Cc2d1a	T	C	8: 84,134,970	D741G	probably damaging	Het
Cct8l1	T	A	5: 25,517,212	N308K	possibly damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 115,012,431		probably benign	Het
Chrna5	T	A	9: 54,998,064	D53E	probably benign	Het
Dap3	A	T	3: 88,928,207		probably null	Het
Disp2	A	G	2: 118,790,008	Y407C	probably damaging	Het
Dnah1	A	G	14: 31,286,814	M2001T	probably benign	Het
Dysf	C	G	6: 84,019,484		probably benign	Het
Eif2ak1	A	T	5: 143,879,446	K187N	probably damaging	Het
Ethe1	T	C	7: 24,595,071	S100P	probably damaging	Het
Fam186a	G	C	15: 99,944,723	I1213M	possibly damaging	Het
Fam205c	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823		probably benign	Het
Gbp9	A	G	5: 105,085,009	F259S	probably damaging	Het
Heatr5b	G	A	17: 78,765,405	H1610Y	possibly damaging	Het
Hk2	T	A	6: 82,728,766	D852V	probably benign	Het
Hmcn1	T	A	1: 150,655,819	Q3233L	possibly damaging	Het
Htt	T	A	5: 34,889,447	V2369E	probably benign	Het
Il9	C	A	13: 56,482,129	E35*	probably null	Het
Itga8	A	T	2: 12,132,517	C933*	probably null	Het
Jak3	A	G	8: 71,685,520	K872E	possibly damaging	Het
Kcnmb2	A	C	3: 32,198,117	M156L	probably benign	Het
Kdm4a	C	T	4: 118,142,283	V981I	unknown	Het
Klhl38	A	T	15: 58,314,829	*582R	probably null	Het
Map3k19	A	G	1: 127,824,129	F495S	probably damaging	Het
Mpeg1	T	A	19: 12,463,079	W634R	probably damaging	Het
Mrpl4	T	A	9: 21,007,682	Y202N	possibly damaging	Het
Nme8	A	G	13: 19,675,808	V214A	probably damaging	Het
Olfr1080	G	A	2: 86,553,953	T57M	probably damaging	Het
Olfr1280	A	T	2: 111,315,894	R138S	possibly damaging	Het
Pcdhgb6	A	G	18: 37,743,398	I386M	possibly damaging	Het
Pitpnm1	T	A	19: 4,112,356	V1062E	possibly damaging	Het
Plekhm3	G	A	1: 64,883,196	R607W	possibly damaging	Het
Plppr2	TCGCC	TC	9: 21,944,431		probably benign	Het
Prap1	C	A	7: 140,097,069	H141Q	probably damaging	Het
Prep	T	A	10: 45,095,156	Y187*	probably null	Het
Rergl	T	G	6: 139,501,867	E3A	probably benign	Het
Rnf19a	A	T	15: 36,241,875	S673T	probably benign	Het
St18	G	A	1: 6,810,602	E440K	probably damaging	Het
Syne1	T	A	10: 5,359,074	Q645L	probably damaging	Het
Tmcc1	A	T	6: 116,134,137	V61E		Het
Tmcc1	C	A	6: 116,134,138	V61L		Het
Tmem135	G	C	7: 89,147,978	L357V	probably benign	Het
Tmem201	C	A	4: 149,729,681	R154L	possibly damaging	Het
Tpgs2	A	G	18: 25,151,218	W78R	probably damaging	Het
Tssc4	T	C	7: 143,069,699	V22A	unknown	Het
Ttn	T	A	2: 76,867,195	L227F		Het
Ttn	T	A	2: 76,892,784	E6496D	unknown	Het
Vps50	G	T	6: 3,522,338	G169*	probably null	Het
Yy1	CGGCGACCACGGCGGCGGCGGGGGCG	CGGCG	12: 108,793,580		probably benign	Het
Zfp407	T	C	18: 84,343,060	K1703R	probably benign	Het
Zfp616	T	G	11: 74,085,697	C931G	probably damaging	Het
Zfp949	G	A	9: 88,569,364	C329Y	probably damaging	Het
Zswim5	T	A	4: 116,965,690	D452E	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
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
R8906:Tmem71	UTSW	15	66532757	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GCCAGCTTCTATATGTACTGGAGAG -3'
(R):5'- CTTCAGCCACACTTGACATG -3'

Sequencing Primer
(F):5'- CTTCTATATGTACTGGAGAGGAGAG -3'
(R):5'- CAGCCACACTTGACATGATTTTTATC -3'

Posted On

2021-04-30