Mutagenetix > Incidental Mutation

Incidental Mutation 'R0609:Tmem147'

54520

Institutional Source

Beutler Lab

Gene Symbol

Tmem147

Ensembl Gene

ENSMUSG00000006315

Gene Name

transmembrane protein 147

Synonyms

5033425B17Rik, 2010004E11Rik

MMRRC Submission

038798-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

R0609 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30727701-30729540 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30728102 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 72 (Y72H)

Ref Sequence

ENSEMBL: ENSMUSP00000146893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005692] [ENSMUST00000006478] [ENSMUST00000074758] [ENSMUST00000170371] [ENSMUST00000182067] [ENSMUST00000182634] [ENSMUST00000207263] [ENSMUST00000207296] [ENSMUST00000209065] [ENSMUST00000208169] [ENSMUST00000207779]

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: Y146H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000006478
Gene: ENSMUSG00000006315
AA Change: Y146H

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 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

noncoding transcript
Transcript: ENSMUST00000183194

Predicted Effect

probably benign
Transcript: ENSMUST00000207263

Predicted Effect

probably benign
Transcript: ENSMUST00000207296
AA Change: Y153H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000209065
AA Change: Y97H

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000208169
AA Change: Y72H

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000207779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207955

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	T	14: 35,811,461 (GRCm38)		probably null	Het
Abcb4	T	A	5: 8,947,376 (GRCm38)	C952S	probably damaging	Het
Adamtsl2	A	G	2: 27,089,635 (GRCm38)	D272G	probably benign	Het
Aim2	G	A	1: 173,461,964 (GRCm38)	D158N	probably damaging	Het
Aldh3b1	C	T	19: 3,914,024 (GRCm38)	R426H	probably damaging	Het
Apoc2	A	G	7: 19,673,353 (GRCm38)	S28P	probably benign	Het
Arfgef3	G	A	10: 18,597,431 (GRCm38)	T1628I	probably benign	Het
Atp10a	G	A	7: 58,819,740 (GRCm38)		probably null	Het
Bcl2	G	A	1: 106,712,562 (GRCm38)	R107C	probably damaging	Het
Bmp8b	T	A	4: 123,121,899 (GRCm38)	D226E	probably benign	Het
Brsk2	T	C	7: 141,998,492 (GRCm38)	Y618H	probably damaging	Het
Casp12	T	A	9: 5,346,554 (GRCm38)	F27Y	probably damaging	Het
Casp8	T	A	1: 58,844,792 (GRCm38)	N439K	probably benign	Het
Ccdc175	T	A	12: 72,157,507 (GRCm38)	K253N	probably benign	Het
Cdc42bpa	A	G	1: 180,040,179 (GRCm38)	H193R	probably damaging	Het
Cdk17	T	C	10: 93,216,472 (GRCm38)	M105T	probably benign	Het
Cdon	C	A	9: 35,478,611 (GRCm38)	P854T	probably damaging	Het
Cep44	A	G	8: 56,544,152 (GRCm38)	M117T	possibly damaging	Het
Cep89	A	T	7: 35,435,530 (GRCm38)	E674D	probably damaging	Het
Cit	C	T	5: 115,873,943 (GRCm38)	A203V	probably damaging	Het
Clstn1	C	A	4: 149,629,300 (GRCm38)		probably null	Het
Col7a1	T	A	9: 108,958,147 (GRCm38)	D565E	unknown	Het
Cpb1	T	A	3: 20,262,474 (GRCm38)	Y304F	probably damaging	Het
Cps1	T	G	1: 67,172,802 (GRCm38)	Y710D	probably damaging	Het
Creb3l1	T	C	2: 91,987,053 (GRCm38)	T372A	possibly damaging	Het
Dars	A	G	1: 128,405,381 (GRCm38)	V102A	probably benign	Het
Dhx35	C	T	2: 158,817,415 (GRCm38)	T168I	possibly damaging	Het
Dnah5	T	C	15: 28,327,779 (GRCm38)	S2100P	probably benign	Het
Dst	T	C	1: 34,266,960 (GRCm38)		probably null	Het
Egflam	A	C	15: 7,253,523 (GRCm38)	L351R	possibly damaging	Het
Elp2	T	A	18: 24,626,156 (GRCm38)	D523E	probably benign	Het
Exo5	C	A	4: 120,921,684 (GRCm38)	G328V	probably damaging	Het
Fam208a	C	T	14: 27,461,750 (GRCm38)	T722I	probably benign	Het
Fut9	A	G	4: 25,620,811 (GRCm38)	M1T	probably null	Het
Galnt5	A	G	2: 58,024,625 (GRCm38)	N584S	possibly damaging	Het
Gbp3	T	C	3: 142,567,772 (GRCm38)	V360A	probably damaging	Het
Gdf6	G	A	4: 9,859,977 (GRCm38)	C353Y	probably damaging	Het
Gm13089	A	T	4: 143,698,503 (GRCm38)	D123E	probably benign	Het
Hace1	A	G	10: 45,648,869 (GRCm38)	T244A	probably damaging	Het
Hr	T	C	14: 70,559,657 (GRCm38)	I500T	probably benign	Het
Ifnl2	A	T	7: 28,509,282 (GRCm38)	L115Q	probably damaging	Het
Iigp1	T	C	18: 60,389,824 (GRCm38)	F5L	probably benign	Het
Inhbb	A	G	1: 119,417,416 (GRCm38)	L381P	probably damaging	Het
Irx3	A	T	8: 91,801,093 (GRCm38)	S50T	probably benign	Het
Ivns1abp	C	T	1: 151,360,145 (GRCm38)	T363I	probably benign	Het
Izumo1	A	T	7: 45,622,899 (GRCm38)	T35S	probably benign	Het
Kank4	A	G	4: 98,777,105 (GRCm38)	S651P	probably damaging	Het
Kit	T	C	5: 75,610,879 (GRCm38)	V232A	probably benign	Het
Klhl11	T	C	11: 100,463,714 (GRCm38)	Y427C	probably damaging	Het
Laptm4b	T	A	15: 34,258,689 (GRCm38)	N36K	probably damaging	Het
Lrrk1	T	C	7: 66,266,615 (GRCm38)		probably null	Het
Mamdc4	G	T	2: 25,564,193 (GRCm38)	Q1042K	probably benign	Het
Mical2	A	G	7: 112,321,440 (GRCm38)		probably null	Het
Ms4a3	C	A	19: 11,631,361 (GRCm38)	V176F	possibly damaging	Het
Myo3a	A	C	2: 22,396,299 (GRCm38)	E626D	possibly damaging	Het
Myo3a	T	C	2: 22,333,513 (GRCm38)	V427A	probably benign	Het
Nckap5	A	T	1: 126,027,288 (GRCm38)	L509*	probably null	Het
Ndufa5	A	T	6: 24,519,249 (GRCm38)	D64E	possibly damaging	Het
Nedd4l	T	C	18: 65,208,461 (GRCm38)	Y753H	probably damaging	Het
Nynrin	T	C	14: 55,872,761 (GRCm38)	V1775A	probably damaging	Het
Olfr141	A	G	2: 86,806,861 (GRCm38)	L46S	probably damaging	Het
Olfr292	T	C	7: 86,694,876 (GRCm38)	V140A	possibly damaging	Het
Olfr694	A	T	7: 106,688,998 (GRCm38)	H244Q	probably damaging	Het
Olfr735	T	C	14: 50,345,926 (GRCm38)	Y141C	probably damaging	Het
Olfr823	G	A	10: 130,112,580 (GRCm38)	S70F	probably damaging	Het
Oplah	A	G	15: 76,302,992 (GRCm38)	S570P	probably benign	Het
Osbpl11	C	A	16: 33,234,444 (GRCm38)	Y632*	probably null	Het
Osbpl5	A	T	7: 143,694,821 (GRCm38)	L644Q	probably damaging	Het
Pcdhb19	T	C	18: 37,497,952 (GRCm38)	W267R	probably benign	Het
Pkhd1l1	A	C	15: 44,467,424 (GRCm38)	S132R	possibly damaging	Het
Ptpn13	T	A	5: 103,556,145 (GRCm38)	S1348T	probably benign	Het
Rc3h1	T	A	1: 160,930,135 (GRCm38)	W8R	probably damaging	Het
Rgs3	T	G	4: 62,625,936 (GRCm38)	V315G	probably damaging	Het
Rora	T	A	9: 69,361,869 (GRCm38)	M82K	probably damaging	Het
Rph3al	T	C	11: 75,908,969 (GRCm38)	I55V	probably benign	Het
Sag	T	C	1: 87,812,991 (GRCm38)	V45A	probably damaging	Het
Scn3a	T	C	2: 65,536,510 (GRCm38)	E56G	probably damaging	Het
Sec24c	T	G	14: 20,686,948 (GRCm38)	V324G	probably damaging	Het
Sptbn1	A	G	11: 30,138,979 (GRCm38)	L748S	probably damaging	Het
Stard9	A	T	2: 120,706,306 (GRCm38)	D4186V	probably damaging	Het
Stk39	T	C	2: 68,366,167 (GRCm38)	E306G	probably damaging	Het
Sycp1	C	A	3: 102,898,849 (GRCm38)		probably null	Het
Taf2	A	C	15: 55,060,050 (GRCm38)	L277R	probably damaging	Het
Tbc1d23	T	A	16: 57,173,106 (GRCm38)	I566F	possibly damaging	Het
Tekt5	T	C	16: 10,361,304 (GRCm38)	T400A	possibly damaging	Het
Tgfbrap1	T	C	1: 43,060,141 (GRCm38)	H401R	probably benign	Het
Tie1	T	A	4: 118,476,147 (GRCm38)	I841L	possibly damaging	Het
Tln1	T	G	4: 43,544,645 (GRCm38)	T1095P	possibly damaging	Het
Tnfaip2	A	G	12: 111,453,507 (GRCm38)	N691S	probably benign	Het
Trim24	G	A	6: 37,957,783 (GRCm38)	C811Y	probably damaging	Het
Trim30b	T	A	7: 104,357,976 (GRCm38)		probably benign	Het
Trpc4	T	G	3: 54,194,768 (GRCm38)	L29R	probably damaging	Het
Trpm6	A	T	19: 18,825,862 (GRCm38)	I890F	probably damaging	Het
Ttc23l	C	T	15: 10,504,536 (GRCm38)	E442K	probably benign	Het
Uggt2	A	G	14: 119,095,336 (GRCm38)	V62A	probably damaging	Het
Ugt1a6a	C	A	1: 88,138,884 (GRCm38)	S137R	probably benign	Het
Unc13a	A	G	8: 71,658,467 (GRCm38)	Y367H	probably damaging	Het
Vmn2r49	A	G	7: 9,976,306 (GRCm38)	I833T	probably benign	Het
Vmn2r7	T	C	3: 64,716,479 (GRCm38)	D231G	probably benign	Het
Ythdc2	A	T	18: 44,864,357 (GRCm38)	M994L	probably benign	Het
Zcchc6	A	T	13: 59,799,782 (GRCm38)	C506*	probably null	Het
Zfp804a	G	A	2: 82,257,588 (GRCm38)	S587N	probably damaging	Het
Zswim2	A	G	2: 83,923,659 (GRCm38)	I219T	probably benign	Het

Other mutations in Tmem147

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00574:Tmem147	APN	7	30,728,433 (GRCm38)	nonsense	probably null
IGL02491:Tmem147	APN	7	30,728,201 (GRCm38)	splice site	probably benign
IGL02971:Tmem147	APN	7	30,729,422 (GRCm38)	unclassified	probably benign
R0070:Tmem147	UTSW	7	30,728,101 (GRCm38)	missense	probably damaging	1.00
R1167:Tmem147	UTSW	7	30,727,796 (GRCm38)	missense	probably benign	0.33
R1254:Tmem147	UTSW	7	30,729,370 (GRCm38)	nonsense	probably null
R5983:Tmem147	UTSW	7	30,728,059 (GRCm38)	missense	probably damaging	1.00
R6072:Tmem147	UTSW	7	30,728,020 (GRCm38)	missense	possibly damaging	0.56
R7636:Tmem147	UTSW	7	30,728,301 (GRCm38)	splice site	probably null
R7705:Tmem147	UTSW	7	30,728,291 (GRCm38)	critical splice acceptor site	probably null
R8042:Tmem147	UTSW	7	30,728,553 (GRCm38)	missense	probably damaging	0.97
R8132:Tmem147	UTSW	7	30,728,447 (GRCm38)	missense	probably damaging	0.99
R8477:Tmem147	UTSW	7	30,728,231 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCTGTCCAACTACCCAAGGAGAAG -3'
(R):5'- TATGTCCCGGTGTGTGGAGCAAAC -3'

Sequencing Primer
(F):5'- CTGTGGGGAAACATCACAATG -3'
(R):5'- TCTGGGTACTAGAGACTGCCTC -3'

Posted On

2013-07-11