Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02971:Tmem147'

365834

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem147

Ensembl Gene

ENSMUSG00000006315

Gene Name

transmembrane protein 147

Synonyms

2010004E11Rik, 5033425B17Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

IGL02971

Quality Score

Status

Chromosome

Chromosomal Location

30427126-30428959 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 30428847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005692] [ENSMUST00000006478] [ENSMUST00000074758] [ENSMUST00000170371] [ENSMUST00000182067] [ENSMUST00000207263] [ENSMUST00000208169] [ENSMUST00000209065] [ENSMUST00000207296] [ENSMUST00000207779] [ENSMUST00000182634]

AlphaFold

Q9CQG6

Predicted Effect

probably benign
Transcript: ENSMUST00000005692

SMART Domains

Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553

Domain	Start	End	E-Value	Type
Pfam:H-K_ATPase_N	2	42	5.4e-23	PFAM
Cation_ATPase_N	52	126	2.26e-18	SMART
Pfam:E1-E2_ATPase	144	375	1.1e-57	PFAM
Pfam:Hydrolase	380	739	5.3e-16	PFAM
Pfam:HAD	383	736	1.9e-18	PFAM
Pfam:Cation_ATPase	436	531	1.6e-24	PFAM
Pfam:Cation_ATPase_C	809	1019	4.8e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000006478

SMART Domains

Protein: ENSMUSP00000006478
Gene: ENSMUSG00000006315

Domain	Start	End	E-Value	Type
Pfam:DUF2053	2	158	3.1e-69	PFAM
transmembrane domain	168	190	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074758

SMART Domains

Protein: ENSMUSP00000074317
Gene: ENSMUSG00000061099

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
Gp_dh_N	106	254	6.13e-79	SMART
Pfam:Gp_dh_C	259	416	2.3e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165410

Predicted Effect

probably benign
Transcript: ENSMUST00000170371

SMART Domains

Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553

Domain	Start	End	E-Value	Type
Pfam:H-K_ATPase_N	2	42	4.9e-28	PFAM
Cation_ATPase_N	52	126	2.26e-18	SMART
Pfam:E1-E2_ATPase	145	376	1e-62	PFAM
Pfam:Hydrolase	380	730	9.3e-25	PFAM
Pfam:HAD	383	727	2.1e-15	PFAM
Pfam:Hydrolase_like2	436	531	4e-25	PFAM
Pfam:Cation_ATPase_C	800	1010	1.5e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180820

SMART Domains

Protein: ENSMUSP00000137757
Gene: ENSMUSG00000097320

Domain	Start	End	E-Value	Type
SCOP:d1i7oa2	53	93	5e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182067

SMART Domains

Protein: ENSMUSP00000138697
Gene: ENSMUSG00000061099

Domain	Start	End	E-Value	Type
PDB:2VYV\|D	1	44	3e-15	PDB
Blast:Gp_dh_N	4	33	9e-7	BLAST
SCOP:d1cf2o2	9	45	3e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207263

Predicted Effect

probably benign
Transcript: ENSMUST00000208169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183194

Predicted Effect

probably benign
Transcript: ENSMUST00000209065

Predicted Effect

probably benign
Transcript: ENSMUST00000207296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207955

Predicted Effect

probably benign
Transcript: ENSMUST00000207779

Predicted Effect

probably benign
Transcript: ENSMUST00000182634

SMART Domains

Protein: ENSMUSP00000138634
Gene: ENSMUSG00000061099

Domain	Start	End	E-Value	Type
low complexity region	21	48	N/A	INTRINSIC
Gp_dh_N	108	256	6.13e-79	SMART
Pfam:Gp_dh_C	261	418	4.4e-77	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	C	T	2: 103,953,564 (GRCm39)	T130I	probably benign	Het
Ahi1	T	C	10: 20,876,450 (GRCm39)	L787P	possibly damaging	Het
Atf3	A	G	1: 190,909,640 (GRCm39)	S10P	probably benign	Het
Cdr2l	A	G	11: 115,281,726 (GRCm39)	N77S	probably damaging	Het
Cnp	A	G	11: 100,467,525 (GRCm39)	D156G	probably benign	Het
Cntn3	A	T	6: 102,145,894 (GRCm39)	D982E	probably damaging	Het
Col22a1	A	G	15: 71,878,587 (GRCm39)	L190S	probably damaging	Het
Csmd3	C	T	15: 47,777,325 (GRCm39)		probably benign	Het
Dnah5	A	G	15: 28,384,607 (GRCm39)	D3117G	probably damaging	Het
Dock5	T	C	14: 67,994,558 (GRCm39)	E1834G	probably null	Het
Eea1	A	G	10: 95,877,389 (GRCm39)	T1368A	probably benign	Het
Fam83f	T	C	15: 80,556,350 (GRCm39)	V78A	probably benign	Het
Fcgbp	G	A	7: 27,800,898 (GRCm39)	V1315I	probably damaging	Het
Fsd2	A	T	7: 81,198,671 (GRCm39)	Y364*	probably null	Het
Gm21976	G	A	13: 98,439,057 (GRCm39)	G16R	probably null	Het
Guca2b	A	G	4: 119,514,885 (GRCm39)	S59P	probably damaging	Het
Hars2	A	G	18: 36,919,231 (GRCm39)	E123G	probably damaging	Het
Hdac2	A	T	10: 36,876,370 (GRCm39)	K462*	probably null	Het
Huwe1	T	A	X: 150,710,622 (GRCm39)		probably benign	Het
Iqgap3	T	A	3: 87,997,611 (GRCm39)	N262K	probably benign	Het
Kat6b	A	G	14: 21,719,826 (GRCm39)	S1502G	probably damaging	Het
Mapkapk3	A	T	9: 107,134,279 (GRCm39)	D328E	probably benign	Het
Naca	C	T	10: 127,877,437 (GRCm39)		probably benign	Het
Npffr1	T	C	10: 61,449,918 (GRCm39)	V64A	probably damaging	Het
Oga	A	G	19: 45,750,682 (GRCm39)	F671S	probably damaging	Het
Or2t49	A	G	11: 58,393,211 (GRCm39)	L57P	probably damaging	Het
Or8b3b	T	A	9: 38,584,564 (GRCm39)	M72L	probably damaging	Het
Pcca	A	G	14: 123,126,945 (GRCm39)	D718G	probably damaging	Het
Pde6a	A	C	18: 61,397,326 (GRCm39)	D670A	probably damaging	Het
Pramel7	T	A	2: 87,320,417 (GRCm39)	E292V	probably benign	Het
Prmt9	A	C	8: 78,291,698 (GRCm39)	M357L	probably benign	Het
Ptgfr	A	T	3: 151,540,963 (GRCm39)	S182T	probably benign	Het
Rtraf	A	T	14: 19,866,260 (GRCm39)	M152K	possibly damaging	Het
Satb1	T	C	17: 52,049,717 (GRCm39)	D579G	possibly damaging	Het
Serpinb6a	A	G	13: 34,115,453 (GRCm39)		probably null	Het
Slc5a9	T	C	4: 111,747,497 (GRCm39)	I297V	possibly damaging	Het
Slf1	T	A	13: 77,195,223 (GRCm39)		probably benign	Het
St8sia2	C	T	7: 73,616,559 (GRCm39)	V139M	probably damaging	Het
Tas2r114	T	C	6: 131,666,243 (GRCm39)	M262V	probably benign	Het
Tmem220	A	G	11: 66,924,933 (GRCm39)		probably null	Het
Uspl1	A	G	5: 149,125,156 (GRCm39)	N35S	possibly damaging	Het
Vmn1r170	A	T	7: 23,305,759 (GRCm39)	I54F	possibly damaging	Het
Vmn2r121	T	G	X: 123,037,591 (GRCm39)	I810L	probably damaging	Het
Wbp2nl	A	T	15: 82,189,945 (GRCm39)	T46S	possibly damaging	Het
Zfp955b	T	A	17: 33,519,940 (GRCm39)	M57K	probably benign	Het

Other mutations in Tmem147

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00574:Tmem147	APN	7	30,427,858 (GRCm39)	nonsense	probably null
IGL02491:Tmem147	APN	7	30,427,626 (GRCm39)	splice site	probably benign
R0070:Tmem147	UTSW	7	30,427,526 (GRCm39)	missense	probably damaging	1.00
R0609:Tmem147	UTSW	7	30,427,527 (GRCm39)	missense	probably benign	0.03
R1167:Tmem147	UTSW	7	30,427,221 (GRCm39)	missense	probably benign	0.33
R1254:Tmem147	UTSW	7	30,428,795 (GRCm39)	nonsense	probably null
R5983:Tmem147	UTSW	7	30,427,484 (GRCm39)	missense	probably damaging	1.00
R6072:Tmem147	UTSW	7	30,427,445 (GRCm39)	missense	possibly damaging	0.56
R7636:Tmem147	UTSW	7	30,427,726 (GRCm39)	splice site	probably null
R7705:Tmem147	UTSW	7	30,427,716 (GRCm39)	critical splice acceptor site	probably null
R8042:Tmem147	UTSW	7	30,427,978 (GRCm39)	missense	probably damaging	0.97
R8132:Tmem147	UTSW	7	30,427,872 (GRCm39)	missense	probably damaging	0.99
R8477:Tmem147	UTSW	7	30,427,656 (GRCm39)	missense	probably benign	0.00

Posted On

2015-12-18