Mutagenetix > Incidental Mutation

Incidental Mutation 'R5983:Tmem147'

481522

Institutional Source

Beutler Lab

Gene Symbol

Tmem147

Ensembl Gene

ENSMUSG00000006315

Gene Name

transmembrane protein 147

Synonyms

2010004E11Rik, 5033425B17Rik

MMRRC Submission

044164-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.921) question?

Stock #

R5983 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30427126-30428959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30427484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 111 (D111G)

Ref Sequence

ENSEMBL: ENSMUSP00000146918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005692] [ENSMUST00000006478] [ENSMUST00000074758] [ENSMUST00000170371] [ENSMUST00000182067] [ENSMUST00000208169] [ENSMUST00000207296] [ENSMUST00000209065] [ENSMUST00000207263] [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 damaging
Transcript: ENSMUST00000006478
AA Change: D160G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006478
Gene: ENSMUSG00000006315
AA Change: D160G

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 damaging
Transcript: ENSMUST00000208169
AA Change: D86G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207296
AA Change: D167G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209065
AA Change: D111G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207955

Predicted Effect

probably benign
Transcript: ENSMUST00000207263

Predicted Effect

probably benign
Transcript: ENSMUST00000207779

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

Meta Mutation Damage Score

0.6208

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (29/29)

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,807,942 (GRCm39)	M861K	probably benign	Het
Abhd18	T	A	3: 40,864,979 (GRCm39)	F73L	probably damaging	Het
Abraxas1	A	G	5: 100,955,777 (GRCm39)	V237A	probably benign	Het
Adam26b	T	C	8: 43,974,378 (GRCm39)	Y208C	probably damaging	Het
Aire	A	G	10: 77,878,903 (GRCm39)	L48P	probably damaging	Het
Bach2	A	T	4: 32,563,324 (GRCm39)	E597V	probably damaging	Het
Ccdc170	A	T	10: 4,470,851 (GRCm39)	R232*	probably null	Het
Cfap100	A	C	6: 90,396,373 (GRCm39)		probably benign	Het
Dppa2	G	A	16: 48,136,204 (GRCm39)	M185I	probably benign	Het
Ecsit	C	T	9: 21,989,443 (GRCm39)		probably null	Het
Fbxw26	A	G	9: 109,547,033 (GRCm39)	I464T	possibly damaging	Het
Grm8	T	C	6: 27,760,220 (GRCm39)	K370R	probably benign	Het
Ide	C	T	19: 37,249,549 (GRCm39)		probably null	Het
Katnip	T	A	7: 125,449,545 (GRCm39)	W870R	probably damaging	Het
Morn3	T	C	5: 123,175,851 (GRCm39)	D179G	possibly damaging	Het
Nkapd1	A	G	9: 50,519,142 (GRCm39)	S157P	probably damaging	Het
Nvl	A	T	1: 180,964,471 (GRCm39)	D102E	probably benign	Het
Or5an10	T	A	19: 12,276,467 (GRCm39)	I10F	probably benign	Het
Rbm5	G	A	9: 107,622,141 (GRCm39)	P611L	probably damaging	Het
Rsph9	A	G	17: 46,440,406 (GRCm39)	M230T	probably benign	Het
Sacs	G	A	14: 61,442,648 (GRCm39)	V1565M	probably damaging	Het
Serpina3n	T	C	12: 104,375,288 (GRCm39)	L120P	probably damaging	Het
Spsb2	A	C	6: 124,786,711 (GRCm39)	E148A	probably benign	Het
Tmc2	T	A	2: 130,089,896 (GRCm39)	M627K	probably damaging	Het
Ttn	A	G	2: 76,572,725 (GRCm39)	V17729A	possibly damaging	Het
Vmn2r104	G	A	17: 20,261,970 (GRCm39)	P387S	probably damaging	Het
Zfp940	C	T	7: 29,544,477 (GRCm39)	V477M	possibly damaging	Het
Zw10	A	G	9: 48,988,745 (GRCm39)		probably null	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
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'- AGTCCTGTTACTACTGCCCG -3'
(R):5'- CAGATGAGCATTGACTCCAACATC -3'

Sequencing Primer
(F):5'- GAGCAGTGCTGTCCAACTAC -3'
(R):5'- ACATCAGTCTGGTATGCAGTCTAGC -3'

Posted On

2017-06-26