Mutagenetix > Incidental Mutation

Incidental Mutation 'R7636:Tmem147'

628472

Institutional Source

Beutler Lab

Gene Symbol

Tmem147

Ensembl Gene

ENSMUSG00000006315

Gene Name

transmembrane protein 147

Synonyms

2010004E11Rik, 5033425B17Rik

MMRRC Submission

045722-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.921) question?

Stock #

R7636 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30427126-30428959 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 30427726 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] [ENSMUST00000182634] [ENSMUST00000207263] [ENSMUST00000207296] [ENSMUST00000207779] [ENSMUST00000208169] [ENSMUST00000209065]

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

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

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

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000207263

Predicted Effect

probably null
Transcript: ENSMUST00000207296

Predicted Effect

probably benign
Transcript: ENSMUST00000207779

Predicted Effect

probably benign
Transcript: ENSMUST00000208169

Predicted Effect

probably null
Transcript: ENSMUST00000209065

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	C	T	16: 16,935,701 (GRCm39)	E199K	possibly damaging	Het
Akap13	C	A	7: 75,259,621 (GRCm39)	N748K	probably benign	Het
Aldh16a1	G	T	7: 44,796,955 (GRCm39)	P58T	unknown	Het
Amhr2	T	A	15: 102,360,893 (GRCm39)	C343S	probably damaging	Het
Ankrd17	A	T	5: 90,380,239 (GRCm39)	M2483K	possibly damaging	Het
Ano3	A	T	2: 110,513,048 (GRCm39)	L649*	probably null	Het
Apob	T	C	12: 8,059,516 (GRCm39)	I2666T	possibly damaging	Het
C1ql3	A	T	2: 13,015,621 (GRCm39)	V13E	probably benign	Het
Casp12	A	G	9: 5,358,344 (GRCm39)	I384V	probably benign	Het
Cimip2a	A	T	2: 25,108,832 (GRCm39)	H7L	probably damaging	Het
Clcn1	A	T	6: 42,268,268 (GRCm39)	K147*	probably null	Het
Ctnna1	T	A	18: 35,356,526 (GRCm39)	N398K	possibly damaging	Het
Dcdc2a	A	T	13: 25,286,605 (GRCm39)	K176M	probably damaging	Het
Depdc5	T	A	5: 33,075,327 (GRCm39)	S502T	probably benign	Het
Fam83e	G	A	7: 45,376,450 (GRCm39)	D388N	probably damaging	Het
Fbxl15	G	A	19: 46,317,614 (GRCm39)	E99K	probably benign	Het
Fbxw2	T	C	2: 34,702,956 (GRCm39)	T186A	probably benign	Het
Frem2	T	A	3: 53,560,668 (GRCm39)	M1280L	probably benign	Het
Gbgt1	T	A	2: 28,395,326 (GRCm39)	D321E	probably damaging	Het
Gsdmc2	T	A	15: 63,700,041 (GRCm39)	T244S	probably benign	Het
Heatr5a	C	A	12: 51,934,979 (GRCm39)	G1675W	probably damaging	Het
Heatr5a	G	A	12: 51,999,341 (GRCm39)	L287F	probably damaging	Het
Hfm1	C	A	5: 107,065,332 (GRCm39)	A116S	probably benign	Het
Insr	A	G	8: 3,308,709 (GRCm39)	I109T	probably damaging	Het
Itga4	A	G	2: 79,144,176 (GRCm39)	I688V	probably benign	Het
Lipe	A	G	7: 25,088,042 (GRCm39)	M49T	probably benign	Het
Lrriq3	A	G	3: 154,893,787 (GRCm39)	Y496C	probably damaging	Het
Lyst	T	C	13: 13,791,332 (GRCm39)		probably null	Het
Megf10	T	A	18: 57,410,061 (GRCm39)	I614N	possibly damaging	Het
Mkx	A	G	18: 7,000,630 (GRCm39)	I104T	possibly damaging	Het
Mrgpra4	C	A	7: 47,630,721 (GRCm39)	L293F	possibly damaging	Het
Olfm2	A	G	9: 20,579,593 (GRCm39)	V386A	possibly damaging	Het
Or2w3b	A	T	11: 58,623,273 (GRCm39)	N239K	possibly damaging	Het
Or4a15	A	T	2: 89,193,583 (GRCm39)	Y63*	probably null	Het
Or52s6	C	A	7: 103,092,040 (GRCm39)	D97Y	probably damaging	Het
Pkd2l1	G	T	19: 44,179,870 (GRCm39)	D113E	possibly damaging	Het
Rab11fip2	A	T	19: 59,931,317 (GRCm39)	I39K	possibly damaging	Het
Rab1b	A	T	19: 5,150,810 (GRCm39)	V99E	probably damaging	Het
Rad54l2	A	T	9: 106,597,586 (GRCm39)	L140Q	probably damaging	Het
Repin1	T	C	6: 48,573,299 (GRCm39)	F76S	probably benign	Het
Robo1	A	G	16: 72,360,615 (GRCm39)	D9G		Het
Scn3a	A	G	2: 65,328,033 (GRCm39)	L819P	probably damaging	Het
Scn7a	A	T	2: 66,574,172 (GRCm39)	N150K	possibly damaging	Het
Sh2d3c	T	C	2: 32,615,023 (GRCm39)	S38P	probably benign	Het
Sin3b	A	T	8: 73,474,362 (GRCm39)	K549*	probably null	Het
Sorl1	A	G	9: 42,003,630 (GRCm39)	F222S	possibly damaging	Het
Spata31h1	T	A	10: 82,130,973 (GRCm39)	D679V	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem179	C	T	12: 112,477,177 (GRCm39)		probably null	Het
Tubg2	A	T	11: 101,050,913 (GRCm39)	I213F	probably damaging	Het
Zfhx3	T	C	8: 109,673,441 (GRCm39)	I1497T	probably benign	Het
Zfp128	A	T	7: 12,624,039 (GRCm39)	M136L	probably benign	Het
Zzz3	G	A	3: 152,133,289 (GRCm39)	A116T	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
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
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
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'- CTGAGCTGATGCAACGATGTAG -3'
(R):5'- AGATTATGGTTGCTGCCCTG -3'

Sequencing Primer
(F):5'- CAACGATGTAGTGGACCTGC -3'
(R):5'- GCCACTGCTGAACTCATT -3'

Posted On

2020-04-20