Mutagenetix > Incidental Mutation

Incidental Mutation 'R1254:Tmem147'

151386

Institutional Source

Beutler Lab

Gene Symbol

Tmem147

Ensembl Gene

ENSMUSG00000006315

Gene Name

transmembrane protein 147

Synonyms

2010004E11Rik, 5033425B17Rik

MMRRC Submission

039321-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R1254 (G1)

Quality Score

196

Status

Not validated

Chromosome

Chromosomal Location

30427126-30428959 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 30428795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 17 (Y17*)

Ref Sequence

ENSEMBL: ENSMUSP00000146893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005692] [ENSMUST00000006478] [ENSMUST00000074758] [ENSMUST00000170371] [ENSMUST00000182067] [ENSMUST00000207779] [ENSMUST00000207263] [ENSMUST00000207296] [ENSMUST00000208169] [ENSMUST00000209065] [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 null
Transcript: ENSMUST00000006478
AA Change: Y17*

SMART Domains

Protein: ENSMUSP00000006478
Gene: ENSMUSG00000006315
AA Change: Y17*

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 null
Transcript: ENSMUST00000207779
AA Change: Y17*

Predicted Effect

probably null
Transcript: ENSMUST00000207263
AA Change: Y17*

Predicted Effect

probably null
Transcript: ENSMUST00000207296
AA Change: Y17*

Predicted Effect

probably null
Transcript: ENSMUST00000208169
AA Change: Y17*

Predicted Effect

probably benign
Transcript: ENSMUST00000209065

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183194

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

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Coro2b	A	G	9: 62,336,247 (GRCm39)	L280P	probably damaging	Het
D430041D05Rik	T	G	2: 104,031,648 (GRCm39)	K1649N	probably damaging	Het
Duox2	T	A	2: 122,113,959 (GRCm39)	H1191L	probably damaging	Het
Etl4	A	G	2: 20,812,734 (GRCm39)	T1430A	probably damaging	Het
Hivep3	A	G	4: 119,956,490 (GRCm39)	Y1602C	probably damaging	Het
Ints6	A	G	14: 62,953,823 (GRCm39)	S180P	probably benign	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Klhdc3	C	T	17: 46,988,993 (GRCm39)	V66I	probably benign	Het
Or5p56	T	A	7: 107,589,647 (GRCm39)	V25D	probably benign	Het
Pank1	T	C	19: 34,818,260 (GRCm39)	H93R	probably benign	Het
Pcdhb16	T	G	18: 37,612,348 (GRCm39)	V436G	possibly damaging	Het
Plekha6	G	A	1: 133,200,327 (GRCm39)	R302H	probably benign	Het
Ptk2	C	T	15: 73,101,819 (GRCm39)	R797Q	probably benign	Het
Rnase10	A	T	14: 51,247,083 (GRCm39)	M117L	probably damaging	Het
Rnf151	A	T	17: 24,936,526 (GRCm39)	C20*	probably null	Het
Robo4	T	C	9: 37,322,136 (GRCm39)		probably null	Het
Rps6ka5	G	T	12: 100,585,788 (GRCm39)	H168Q	probably damaging	Het
Sstr1	G	A	12: 58,260,108 (GRCm39)	V244M	possibly damaging	Het
Vmn1r7	A	G	6: 57,001,772 (GRCm39)	C163R	probably damaging	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
IGL02971:Tmem147	APN	7	30,428,847 (GRCm39)	unclassified	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
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

Predicted Primers

PCR Primer
(F):5'- TTGCATAGCTGCACAAAGAGGTAGG -3'
(R):5'- TCTTCAACGGTGTAAGCAAGGCTC -3'

Sequencing Primer
(F):5'- CACAAAGAGGTAGGTGACCCC -3'
(R):5'- CGGACTACAGTTCCCATAAGG -3'

Posted On

2014-01-29