Mutagenetix > Incidental Mutation

Incidental Mutation 'R8477:Tmem147'

657308

Institutional Source

Beutler Lab

Gene Symbol

Tmem147

Ensembl Gene

ENSMUSG00000006315

Gene Name

transmembrane protein 147

Synonyms

2010004E11Rik, 5033425B17Rik

MMRRC Submission

067921-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.921) question?

Stock #

R8477 (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 30427656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 86 (M86L)

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 benign
Transcript: ENSMUST00000006478
AA Change: M135L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000006478
Gene: ENSMUSG00000006315
AA Change: M135L

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 benign
Transcript: ENSMUST00000207296
AA Change: M135L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

unknown
Transcript: ENSMUST00000207779
AA Change: R112S

Predicted Effect

probably benign
Transcript: ENSMUST00000208169

Predicted Effect

probably benign
Transcript: ENSMUST00000209065
AA Change: M86L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0634

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,924,174 (GRCm39)	S94L	probably benign	Het
Ackr1	C	T	1: 173,159,755 (GRCm39)	G255R	probably damaging	Het
Aldh1l2	G	A	10: 83,337,785 (GRCm39)	T560I	probably damaging	Het
Arhgef25	A	T	10: 127,020,266 (GRCm39)	F384I	probably damaging	Het
Bptf	T	A	11: 106,943,679 (GRCm39)	Q2671L	probably damaging	Het
Ccdc159	A	G	9: 21,844,223 (GRCm39)	E95G	probably damaging	Het
Cenpf	A	T	1: 189,385,385 (GRCm39)	H2298Q	probably benign	Het
Chn2	G	T	6: 54,246,467 (GRCm39)		probably null	Het
Csnk1g1	T	C	9: 65,909,555 (GRCm39)	L224P	probably damaging	Het
Cyp2c54	T	A	19: 40,058,708 (GRCm39)	K241N	probably benign	Het
Cyp2c55	G	T	19: 38,999,485 (GRCm39)	V64L	probably damaging	Het
Dlgap1	A	C	17: 70,823,967 (GRCm39)	Q317H	probably damaging	Het
Dnaja3	A	G	16: 4,505,212 (GRCm39)	D108G	probably null	Het
Dpagt1	G	T	9: 44,243,390 (GRCm39)		probably null	Het
Dzip1	T	C	14: 119,138,958 (GRCm39)	R424G	possibly damaging	Het
Ero1b	A	G	13: 12,616,672 (GRCm39)	K367R	probably benign	Het
Evi2	T	C	11: 79,406,891 (GRCm39)	Y228C	probably benign	Het
Exosc10	A	T	4: 148,649,847 (GRCm39)	I426L	possibly damaging	Het
Gba2	C	T	4: 43,569,944 (GRCm39)	R423Q	probably damaging	Het
Gm19965	A	C	1: 116,730,854 (GRCm39)		probably benign	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
Gvin2	T	C	7: 105,548,133 (GRCm39)	K1640E	possibly damaging	Het
Hc	A	T	2: 34,879,182 (GRCm39)	C1557S	probably damaging	Het
Hfm1	C	T	5: 107,029,684 (GRCm39)	S799N	probably benign	Het
Hibadh	A	T	6: 52,617,185 (GRCm39)	W17R	probably benign	Het
Hivep1	A	T	13: 42,337,696 (GRCm39)	T2592S	probably benign	Het
Ighv8-5	G	A	12: 115,031,200 (GRCm39)	T113I	probably benign	Het
Il2rb	A	T	15: 78,370,006 (GRCm39)	V211D	probably damaging	Het
Itgal	A	G	7: 126,900,105 (GRCm39)	Y121C	probably damaging	Het
Kirrel1	T	C	3: 86,992,138 (GRCm39)	T597A	possibly damaging	Het
Lats1	A	G	10: 7,581,279 (GRCm39)	E688G	probably damaging	Het
Lbr	C	T	1: 181,644,539 (GRCm39)	A589T	possibly damaging	Het
Limch1	G	A	5: 67,131,908 (GRCm39)	V133I	probably benign	Het
Mast2	C	T	4: 116,164,407 (GRCm39)	A1670T	probably benign	Het
Mtcl1	A	T	17: 66,684,942 (GRCm39)	L949Q	probably benign	Het
Nlrp4a	T	C	7: 26,159,219 (GRCm39)	V833A	probably benign	Het
Or12k5	T	C	2: 36,895,060 (GRCm39)	T189A	probably benign	Het
Or8g28	A	T	9: 39,169,099 (GRCm39)	Y290N	probably damaging	Het
Osgep	C	A	14: 51,155,334 (GRCm39)	A75S	probably damaging	Het
Pank1	C	A	19: 34,856,055 (GRCm39)	R141L	probably benign	Het
Pcdhb20	T	A	18: 37,638,307 (GRCm39)	S278T	probably benign	Het
Pcdhgb8	C	A	18: 37,896,365 (GRCm39)	F478L	probably benign	Het
Peg10	C	CTCT	6: 4,756,453 (GRCm39)		probably benign	Het
Polr2a	G	A	11: 69,626,312 (GRCm39)	P1613S	probably benign	Het
Pramel55	A	C	5: 95,949,567 (GRCm39)	M105L	probably benign	Het
Prom2	A	C	2: 127,381,124 (GRCm39)	S251A	probably benign	Het
R3hdm2	A	G	10: 127,320,029 (GRCm39)	H546R	probably damaging	Het
Reck	G	T	4: 43,891,011 (GRCm39)	V50L	probably benign	Het
Rerg	T	C	6: 137,033,184 (GRCm39)	T164A	probably benign	Het
Rho	T	A	6: 115,912,346 (GRCm39)		probably null	Het
Ric1	A	G	19: 29,575,183 (GRCm39)	T959A	probably damaging	Het
Slc28a3	T	A	13: 58,724,609 (GRCm39)	N215I	possibly damaging	Het
Slc2a5	G	A	4: 150,210,119 (GRCm39)	V35I	probably benign	Het
Srpk2	A	T	5: 23,718,986 (GRCm39)	S610T	probably benign	Het
Tasor2	A	G	13: 3,625,079 (GRCm39)	F1624L	probably benign	Het
Trhde	A	G	10: 114,636,622 (GRCm39)	V195A	probably benign	Het
Trio	T	C	15: 27,774,038 (GRCm39)	S112G	possibly damaging	Het
U2af2	T	C	7: 5,078,693 (GRCm39)	V424A	probably benign	Het
Vmn2r27	T	C	6: 124,201,200 (GRCm39)	I252M	probably benign	Het
Wasf2	A	G	4: 132,912,412 (GRCm39)	E88G	unknown	Het
Zfp37	A	G	4: 62,110,240 (GRCm39)	C275R	probably damaging	Het
Zfp532	A	T	18: 65,757,137 (GRCm39)	I357F	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
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

Predicted Primers

PCR Primer
(F):5'- GTGTGGTACAGGTCATAGCG -3'
(R):5'- AACTCATTATGTCCCGGTGTG -3'

Sequencing Primer
(F):5'- AGCGTGTTATCATCCAGACCTGAG -3'
(R):5'- AGCCCAGACTTCCGGGAATG -3'

Posted On

2021-01-18