Mutagenetix > Incidental Mutation

Incidental Mutation 'R8042:Tmem147'

618572

Institutional Source

Beutler Lab

Gene Symbol

Tmem147

Ensembl Gene

ENSMUSG00000006315

Gene Name

transmembrane protein 147

Synonyms

2010004E11Rik, 5033425B17Rik

MMRRC Submission

067479-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.921) question?

Stock #

R8042 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30427126-30428959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30427978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 75 (S75C)

Ref Sequence

ENSEMBL: ENSMUSP00000006478 (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 damaging
Transcript: ENSMUST00000006478
AA Change: S75C

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000006478
Gene: ENSMUSG00000006315
AA Change: S75C

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 damaging
Transcript: ENSMUST00000207296
AA Change: S75C

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000207779
AA Change: S75C

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000208169

Predicted Effect

probably damaging
Transcript: ENSMUST00000209065
AA Change: S26C

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 120,002,233 (GRCm39)	Y1582C	possibly damaging	Het
Acly	A	G	11: 100,405,151 (GRCm39)	I339T	probably damaging	Het
Adcy4	A	G	14: 56,012,696 (GRCm39)	V541A	probably benign	Het
Arhgef3	T	A	14: 27,084,766 (GRCm39)	V45D	possibly damaging	Het
Azi2	C	A	9: 117,891,165 (GRCm39)	Q397K	probably benign	Het
Cacna1h	G	T	17: 25,611,445 (GRCm39)	S451*	probably null	Het
Cacna2d3	A	T	14: 28,826,995 (GRCm39)		probably benign	Het
Cep85l	A	G	10: 53,224,759 (GRCm39)	Y277H	probably damaging	Het
Cep97	C	A	16: 55,731,965 (GRCm39)	V608L	probably benign	Het
Crb1	T	A	1: 139,242,392 (GRCm39)	Y362F	probably damaging	Het
Ctc1	T	A	11: 68,920,669 (GRCm39)		probably benign	Het
Dnah14	T	C	1: 181,471,196 (GRCm39)		probably null	Het
Dock4	T	C	12: 40,795,759 (GRCm39)	F859L	probably benign	Het
Errfi1	T	C	4: 150,950,914 (GRCm39)	F114S	possibly damaging	Het
Gbp9	T	A	5: 105,242,108 (GRCm39)	I150F	probably damaging	Het
Loxhd1	C	T	18: 77,518,888 (GRCm39)	T1898M	probably damaging	Het
Lrrc9	A	T	12: 72,507,680 (GRCm39)	T394S	probably benign	Het
Ltbp2	T	C	12: 84,838,673 (GRCm39)	E1115G	probably damaging	Het
Mast4	T	C	13: 102,917,753 (GRCm39)	S552G	probably damaging	Het
Mgat4b	T	A	11: 50,123,203 (GRCm39)	Y263*	probably null	Het
Moxd2	T	C	6: 40,862,301 (GRCm39)	I173V	probably benign	Het
Mrc2	T	C	11: 105,239,181 (GRCm39)	V1312A	probably damaging	Het
Myh1	A	T	11: 67,097,429 (GRCm39)	I465F	probably damaging	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nt5dc1	T	C	10: 34,273,210 (GRCm39)	D196G	probably benign	Het
Obscn	T	C	11: 58,931,143 (GRCm39)	D5028G	possibly damaging	Het
Pabpc1	A	G	15: 36,598,553 (GRCm39)	F447S	probably benign	Het
Pcsk6	T	G	7: 65,577,683 (GRCm39)	N201K	possibly damaging	Het
Pml	C	A	9: 58,141,968 (GRCm39)	R288L	probably benign	Het
Ptpro	A	G	6: 137,393,881 (GRCm39)	T850A	possibly damaging	Het
Rnf213	A	G	11: 119,332,480 (GRCm39)	D2564G		Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Sec24a	T	C	11: 51,595,144 (GRCm39)	T939A	probably benign	Het
Serpine1	A	T	5: 137,095,855 (GRCm39)	L242H	probably benign	Het
Slc27a4	T	A	2: 29,701,202 (GRCm39)	V331E	probably damaging	Het
Slc6a6	A	C	6: 91,718,226 (GRCm39)	I347L	probably benign	Het
Spns2	A	T	11: 72,345,003 (GRCm39)	L495H	possibly damaging	Het
Stam2	A	G	2: 52,596,409 (GRCm39)		probably null	Het
Syt12	C	A	19: 4,503,852 (GRCm39)	V260F	probably damaging	Het
Tdrd7	T	A	4: 45,987,516 (GRCm39)	S50T	possibly damaging	Het
Tert	T	A	13: 73,775,264 (GRCm39)	V39E	probably damaging	Het
Tnpo2	C	T	8: 85,778,188 (GRCm39)	P564S	probably damaging	Het
Utp25	A	G	1: 192,796,980 (GRCm39)	V1A		Het
Vsig1	C	T	X: 139,833,875 (GRCm39)	H232Y	probably benign	Het
Zfp738	A	G	13: 67,819,010 (GRCm39)	L327S	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
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
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'- AGTCTCTAGTACCCAGACTCC -3'
(R):5'- CTCAGATGTTGTTCTTGGCCAC -3'

Sequencing Primer
(F):5'- GCACCCAGCCTCTGATCAC -3'
(R):5'- AGATGTTGTTCTTGGCCACTTTCTTC -3'

Posted On

2020-01-23