Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02744:Tmem72'

306024

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem72

Ensembl Gene

ENSMUSG00000048108

Gene Name

transmembrane protein 72

Synonyms

C230095G01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

IGL02744

Quality Score

Status

Chromosome

Chromosomal Location

116668500-116693943 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116672451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 130 (L130P)

Ref Sequence

ENSEMBL: ENSMUSP00000057942 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056623] [ENSMUST00000129255]

AlphaFold

Q8C3K5

Predicted Effect

probably damaging
Transcript: ENSMUST00000056623
AA Change: L130P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057942
Gene: ENSMUSG00000048108
AA Change: L130P

Domain	Start	End	E-Value	Type
Pfam:TMEM72	2	189	2.8e-84	PFAM
low complexity region	241	255	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129255

SMART Domains

Protein: ENSMUSP00000122220
Gene: ENSMUSG00000048108

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein which may be expressed specifically in the kidney. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930564D02Rik	A	G	3: 104,985,852 (GRCm39)	M89V	unknown	Het
Actl11	C	A	9: 107,807,061 (GRCm39)	H461Q	probably benign	Het
Aoc1l1	A	G	6: 48,952,249 (GRCm39)	E58G	probably benign	Het
Aox4	A	T	1: 58,294,711 (GRCm39)	R973S	possibly damaging	Het
Arhgef10	C	T	8: 14,980,198 (GRCm39)	A146V	probably benign	Het
Cep350	A	T	1: 155,807,279 (GRCm39)	S713T	probably damaging	Het
Epha5	T	C	5: 84,255,848 (GRCm39)	I458V	probably benign	Het
Galnt17	A	G	5: 131,140,613 (GRCm39)	I168T	probably damaging	Het
Gli3	T	C	13: 15,788,471 (GRCm39)		probably null	Het
Gm11110	T	A	17: 57,399,693 (GRCm39)		probably benign	Het
Gm8206	T	C	14: 6,022,488 (GRCm38)	I4V	possibly damaging	Het
Golga1	A	G	2: 38,908,486 (GRCm39)	S713P	probably damaging	Het
Ing5	T	C	1: 93,744,210 (GRCm39)	M172T	probably damaging	Het
Lyn	A	G	4: 3,738,808 (GRCm39)	T27A	probably benign	Het
Or2b28	A	G	13: 21,531,164 (GRCm39)	Y22C	probably damaging	Het
Pou5f1	T	C	17: 35,820,311 (GRCm39)	V40A	probably damaging	Het
Pramel13	A	T	4: 144,119,493 (GRCm39)	L358Q	probably damaging	Het
Prdm16	A	G	4: 154,429,910 (GRCm39)	L353P	probably damaging	Het
Psg18	T	A	7: 18,083,327 (GRCm39)	Q276L	probably benign	Het
Ralgapb	A	C	2: 158,288,071 (GRCm39)	Q369H	probably damaging	Het
Slc44a4	A	G	17: 35,146,776 (GRCm39)	N300D	probably damaging	Het
Slc6a15	A	T	10: 103,253,894 (GRCm39)	E610V	probably benign	Het
Slc8a2	T	C	7: 15,878,954 (GRCm39)	V480A	possibly damaging	Het
Speer1j	C	T	5: 11,555,340 (GRCm39)	T103I	possibly damaging	Het
Spg7	T	C	8: 123,820,400 (GRCm39)	F617S	probably damaging	Het
Srcap	A	G	7: 127,133,838 (GRCm39)	D863G	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Suox	T	C	10: 128,507,086 (GRCm39)	E314G	probably benign	Het
Tln2	T	A	9: 67,136,658 (GRCm39)	K1276*	probably null	Het
Ttll1	T	C	15: 83,373,778 (GRCm39)	Y345C	probably benign	Het
Ush2a	A	T	1: 188,090,914 (GRCm39)		probably null	Het
Xpo6	G	A	7: 125,707,620 (GRCm39)		probably benign	Het
Zc3h14	A	T	12: 98,751,234 (GRCm39)	Y512F	possibly damaging	Het
Zfp438	A	T	18: 5,214,760 (GRCm39)	M66K	probably benign	Het

Other mutations in Tmem72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1998:Tmem72	UTSW	6	116,693,525 (GRCm39)	missense	probably benign	0.00
R2022:Tmem72	UTSW	6	116,673,800 (GRCm39)	missense	probably damaging	1.00
R2911:Tmem72	UTSW	6	116,675,292 (GRCm39)	missense	possibly damaging	0.93
R4750:Tmem72	UTSW	6	116,672,395 (GRCm39)	missense	probably damaging	0.97
R4833:Tmem72	UTSW	6	116,675,319 (GRCm39)	missense	probably benign
R5129:Tmem72	UTSW	6	116,678,974 (GRCm39)	missense	probably damaging	0.99
R6702:Tmem72	UTSW	6	116,675,310 (GRCm39)	missense	probably benign	0.02
R7445:Tmem72	UTSW	6	116,675,291 (GRCm39)	missense	probably benign	0.05
R7976:Tmem72	UTSW	6	116,673,800 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16