Mutagenetix > Incidental Mutation

Incidental Mutation 'R0491:Tmtc1'

42467

Institutional Source

Beutler Lab

Gene Symbol

Tmtc1

Ensembl Gene

ENSMUSG00000030306

Gene Name

transmembrane and tetratricopeptide repeat containing 1

Synonyms

MMRRC Submission

038689-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R0491 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

148133928-148345887 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 148314138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060095] [ENSMUST00000100772] [ENSMUST00000140797] [ENSMUST00000203991]

AlphaFold

Q3UV71

Predicted Effect

probably null
Transcript: ENSMUST00000060095

SMART Domains

Protein: ENSMUSP00000056353
Gene: ENSMUSG00000030306

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
transmembrane domain	111	130	N/A	INTRINSIC
transmembrane domain	142	164	N/A	INTRINSIC
low complexity region	170	180	N/A	INTRINSIC
transmembrane domain	195	217	N/A	INTRINSIC
low complexity region	250	269	N/A	INTRINSIC
transmembrane domain	328	350	N/A	INTRINSIC
Pfam:DUF1736	351	425	1.3e-33	PFAM
transmembrane domain	444	466	N/A	INTRINSIC
transmembrane domain	494	516	N/A	INTRINSIC
TPR	543	576	2.42e-3	SMART
TPR	577	607	8.76e-1	SMART
TPR	608	641	1.69e-2	SMART
TPR	642	675	1.28e-2	SMART
TPR	676	709	4.31e0	SMART
TPR	710	743	1.11e-2	SMART
TPR	744	776	4.62e0	SMART
TPR	811	844	1.1e-1	SMART
TPR	849	882	4.45e-2	SMART
TPR	883	916	1.05e-3	SMART
low complexity region	926	941	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000100772

SMART Domains

Protein: ENSMUSP00000098335
Gene: ENSMUSG00000030306

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
transmembrane domain	111	130	N/A	INTRINSIC
transmembrane domain	142	164	N/A	INTRINSIC
low complexity region	170	180	N/A	INTRINSIC
transmembrane domain	195	217	N/A	INTRINSIC
low complexity region	250	269	N/A	INTRINSIC
Pfam:DUF1736	349	427	6.9e-35	PFAM
transmembrane domain	444	466	N/A	INTRINSIC
transmembrane domain	494	516	N/A	INTRINSIC
TPR	539	569	8.76e-1	SMART
TPR	570	603	1.69e-2	SMART
TPR	604	637	1.28e-2	SMART
TPR	638	671	4.31e0	SMART
TPR	672	705	1.11e-2	SMART
TPR	706	738	4.62e0	SMART
TPR	773	806	1.1e-1	SMART
TPR	811	844	4.45e-2	SMART
TPR	845	878	1.05e-3	SMART
low complexity region	888	903	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140797

SMART Domains

Protein: ENSMUSP00000115543
Gene: ENSMUSG00000030306

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
transmembrane domain	112	134	N/A	INTRINSIC
low complexity region	160	179	N/A	INTRINSIC
Pfam:DUF1736	259	337	9.9e-36	PFAM
transmembrane domain	357	379	N/A	INTRINSIC
transmembrane domain	403	425	N/A	INTRINSIC
Pfam:TPR_12	449	516	9.6e-10	PFAM
Pfam:TPR_11	451	498	1.3e-9	PFAM
Pfam:TPR_1	453	486	5.7e-6	PFAM
Pfam:TPR_2	453	486	2.6e-7	PFAM
Pfam:TPR_8	453	486	6.5e-4	PFAM
Pfam:TPR_1	487	517	1.6e-3	PFAM
Pfam:TPR_8	496	518	1.5e-3	PFAM
low complexity region	521	539	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000203991

SMART Domains

Protein: ENSMUSP00000144991
Gene: ENSMUSG00000030306

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
transmembrane domain	112	134	N/A	INTRINSIC
low complexity region	160	179	N/A	INTRINSIC

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,248,235 (GRCm39)	F2661L	probably benign	Het
Acadsb	A	G	7: 131,031,836 (GRCm39)	D224G	probably benign	Het
Acsm1	A	G	7: 119,239,920 (GRCm39)	H288R	probably damaging	Het
Adamts2	A	G	11: 50,667,457 (GRCm39)	D465G	probably damaging	Het
Akap9	A	T	5: 4,022,851 (GRCm39)		probably benign	Het
Alms1	A	G	6: 85,679,582 (GRCm39)	T3240A	probably damaging	Het
Ap3d1	A	G	10: 80,555,075 (GRCm39)	W417R	probably damaging	Het
Arfgef1	C	A	1: 10,250,212 (GRCm39)		probably benign	Het
Atf6	A	G	1: 170,614,913 (GRCm39)		probably null	Het
Cacna1s	T	A	1: 136,016,746 (GRCm39)		probably benign	Het
Clcn1	T	C	6: 42,287,515 (GRCm39)	F740L	probably benign	Het
Clec12a	T	A	6: 129,341,016 (GRCm39)	D265E	probably benign	Het
Clic3	T	A	2: 25,347,797 (GRCm39)		probably benign	Het
Cntnap3	T	G	13: 64,909,859 (GRCm39)	T749P	probably benign	Het
Col11a2	T	A	17: 34,261,186 (GRCm39)	D45E	probably null	Het
Cplane1	T	A	15: 8,211,727 (GRCm39)	S356T	probably damaging	Het
Crxos	T	A	7: 15,632,460 (GRCm39)	S89T	probably benign	Het
Cxcr1	G	T	1: 74,231,468 (GRCm39)	P185T	possibly damaging	Het
Cyp20a1	T	A	1: 60,410,486 (GRCm39)	N262K	possibly damaging	Het
Dennd2b	T	A	7: 109,156,411 (GRCm39)	Q113L	probably benign	Het
Dpy19l2	T	C	9: 24,607,324 (GRCm39)	R46G	probably benign	Het
Dpysl2	A	T	14: 67,045,411 (GRCm39)	L454Q	probably damaging	Het
Dvl3	C	T	16: 20,346,173 (GRCm39)		probably benign	Het
Eppin	T	A	2: 164,431,332 (GRCm39)	E98V	possibly damaging	Het
Fancm	A	T	12: 65,152,835 (GRCm39)	H1097L	probably benign	Het
Fkbp4	A	G	6: 128,412,705 (GRCm39)	I75T	probably damaging	Het
Fmn2	A	G	1: 174,409,525 (GRCm39)	H586R	unknown	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Haus6	A	C	4: 86,521,083 (GRCm39)	V185G	possibly damaging	Het
Herc2	T	A	7: 55,772,114 (GRCm39)	C1098S	possibly damaging	Het
Hic1	C	A	11: 75,057,136 (GRCm39)	L584F	possibly damaging	Het
Itgb1bp1	C	A	12: 21,326,896 (GRCm39)		probably benign	Het
Kbtbd2	G	A	6: 56,757,374 (GRCm39)	R121*	probably null	Het
Lgr4	C	T	2: 109,837,626 (GRCm39)		probably benign	Het
Lrrc55	T	C	2: 85,022,264 (GRCm39)	E309G	probably damaging	Het
Mertk	T	C	2: 128,635,027 (GRCm39)		probably null	Het
Micu3	A	G	8: 40,819,294 (GRCm39)		probably benign	Het
Mmp11	G	A	10: 75,762,592 (GRCm39)	A287V	probably benign	Het
Mpzl2	A	G	9: 44,954,039 (GRCm39)	Y47C	probably damaging	Het
Muc5b	A	C	7: 141,415,752 (GRCm39)	R2899S	probably benign	Het
Myo1b	A	G	1: 51,794,857 (GRCm39)	Y1078H	probably benign	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Ncapd3	T	G	9: 26,969,179 (GRCm39)	V611G	probably damaging	Het
Ntpcr	C	T	8: 126,464,093 (GRCm39)	R73*	probably null	Het
Or4c120	A	T	2: 89,000,704 (GRCm39)	V284E	probably benign	Het
Or5b119	G	A	19: 13,456,857 (GRCm39)	A235V	probably damaging	Het
Osbp2	A	G	11: 3,664,709 (GRCm39)	F88S	probably damaging	Het
Pkn3	A	T	2: 29,979,889 (GRCm39)	T711S	probably damaging	Het
Plekhm1	T	C	11: 103,285,602 (GRCm39)	K278E	probably benign	Het
Ppp1r36	A	G	12: 76,486,065 (GRCm39)	T408A	probably benign	Het
Prss41	T	C	17: 24,061,477 (GRCm39)	T105A	possibly damaging	Het
Psme1	G	T	14: 55,817,378 (GRCm39)		probably benign	Het
Ptprq	A	T	10: 107,444,036 (GRCm39)	Y1523N	probably damaging	Het
Ric8b	A	G	10: 84,828,086 (GRCm39)	D470G	probably damaging	Het
Scarb1	A	G	5: 125,375,795 (GRCm39)		probably benign	Het
Slc25a54	G	A	3: 109,010,112 (GRCm39)	A204T	probably damaging	Het
Spink10	T	C	18: 62,793,036 (GRCm39)	C67R	probably damaging	Het
Tprkb	A	G	6: 85,901,446 (GRCm39)	D28G	probably benign	Het
Ttll13	A	G	7: 79,910,098 (GRCm39)	H747R	probably benign	Het
Usp24	A	G	4: 106,259,302 (GRCm39)	S1608G	probably benign	Het
Utp20	A	T	10: 88,596,774 (GRCm39)	F2115L	probably damaging	Het
Vmn1r200	A	T	13: 22,579,361 (GRCm39)	I46L	probably benign	Het
Zdhhc8	A	T	16: 18,046,254 (GRCm39)	M103K	probably damaging	Het
Zfp595	C	T	13: 67,465,369 (GRCm39)	G298E	probably damaging	Het
Zfp738	T	G	13: 67,818,140 (GRCm39)	H617P	possibly damaging	Het
Zfp9	A	T	6: 118,442,163 (GRCm39)	H166Q	probably damaging	Het
Zp3r	C	A	1: 130,546,071 (GRCm39)	D80Y	probably damaging	Het

Other mutations in Tmtc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Tmtc1	APN	6	148,345,442 (GRCm39)	missense	probably benign	0.02
IGL01377:Tmtc1	APN	6	148,147,285 (GRCm39)	missense	possibly damaging	0.82
IGL01728:Tmtc1	APN	6	148,312,564 (GRCm39)	missense	probably benign	0.02
IGL02904:Tmtc1	APN	6	148,150,980 (GRCm39)	splice site	probably benign
R0044:Tmtc1	UTSW	6	148,314,327 (GRCm39)	splice site	probably benign
R0107:Tmtc1	UTSW	6	148,327,411 (GRCm39)	missense	possibly damaging	0.85
R0114:Tmtc1	UTSW	6	148,314,328 (GRCm39)	splice site	probably benign
R0243:Tmtc1	UTSW	6	148,148,335 (GRCm39)	missense	probably damaging	1.00
R0310:Tmtc1	UTSW	6	148,151,079 (GRCm39)	missense	probably benign	0.00
R0441:Tmtc1	UTSW	6	148,317,256 (GRCm39)	missense	probably damaging	1.00
R0578:Tmtc1	UTSW	6	148,256,716 (GRCm39)	intron	probably benign
R0685:Tmtc1	UTSW	6	148,312,738 (GRCm39)	missense	probably benign	0.39
R1470:Tmtc1	UTSW	6	148,207,483 (GRCm39)	splice site	probably benign
R1533:Tmtc1	UTSW	6	148,147,208 (GRCm39)	critical splice donor site	probably null
R1577:Tmtc1	UTSW	6	148,314,318 (GRCm39)	critical splice acceptor site	probably null
R1617:Tmtc1	UTSW	6	148,256,902 (GRCm39)	intron	probably benign
R1763:Tmtc1	UTSW	6	148,196,116 (GRCm39)	missense	probably damaging	1.00
R1909:Tmtc1	UTSW	6	148,345,546 (GRCm39)	missense	possibly damaging	0.93
R1943:Tmtc1	UTSW	6	148,327,416 (GRCm39)	nonsense	probably null
R2050:Tmtc1	UTSW	6	148,164,381 (GRCm39)	missense	probably damaging	1.00
R2305:Tmtc1	UTSW	6	148,146,195 (GRCm39)	missense	probably damaging	0.99
R3813:Tmtc1	UTSW	6	148,256,389 (GRCm39)	intron	probably benign
R4355:Tmtc1	UTSW	6	148,256,596 (GRCm39)	intron	probably benign
R4537:Tmtc1	UTSW	6	148,164,280 (GRCm39)	critical splice donor site	probably null
R4731:Tmtc1	UTSW	6	148,186,478 (GRCm39)	splice site	probably null
R4732:Tmtc1	UTSW	6	148,186,478 (GRCm39)	splice site	probably null
R4733:Tmtc1	UTSW	6	148,186,478 (GRCm39)	splice site	probably null
R4960:Tmtc1	UTSW	6	148,345,445 (GRCm39)	unclassified	probably benign
R5048:Tmtc1	UTSW	6	148,139,344 (GRCm39)	missense	possibly damaging	0.96
R5118:Tmtc1	UTSW	6	148,171,485 (GRCm39)	intron	probably benign
R5279:Tmtc1	UTSW	6	148,256,629 (GRCm39)	intron	probably benign
R5310:Tmtc1	UTSW	6	148,256,910 (GRCm39)	intron	probably benign
R5411:Tmtc1	UTSW	6	148,345,397 (GRCm39)	critical splice donor site	probably null
R5646:Tmtc1	UTSW	6	148,148,329 (GRCm39)	missense	probably damaging	1.00
R5868:Tmtc1	UTSW	6	148,139,353 (GRCm39)	missense	probably damaging	1.00
R6482:Tmtc1	UTSW	6	148,314,243 (GRCm39)	missense	probably benign	0.00
R7162:Tmtc1	UTSW	6	148,172,985 (GRCm39)	missense	probably damaging	1.00
R7462:Tmtc1	UTSW	6	148,226,643 (GRCm39)	missense	probably damaging	1.00
R7702:Tmtc1	UTSW	6	148,345,415 (GRCm39)	missense	probably benign	0.35
R8304:Tmtc1	UTSW	6	148,172,883 (GRCm39)	missense	probably damaging	0.99
R8353:Tmtc1	UTSW	6	148,327,346 (GRCm39)	missense	probably benign	0.11
R9032:Tmtc1	UTSW	6	148,237,749 (GRCm39)	nonsense	probably null
R9085:Tmtc1	UTSW	6	148,237,749 (GRCm39)	nonsense	probably null
R9089:Tmtc1	UTSW	6	148,147,215 (GRCm39)	missense	possibly damaging	0.85
R9287:Tmtc1	UTSW	6	148,186,390 (GRCm39)	missense	probably benign	0.03
R9649:Tmtc1	UTSW	6	148,144,714 (GRCm39)	missense	probably damaging	1.00
RF018:Tmtc1	UTSW	6	148,149,009 (GRCm39)	missense	probably damaging	1.00
Z1177:Tmtc1	UTSW	6	148,312,578 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- GAGTCAAGATTCCCTCAGCAGCAC -3'
(R):5'- TGCAGAAATCCTTGCTCAGAACACC -3'

Sequencing Primer
(F):5'- TCAGCAGCACACAACTCATAC -3'
(R):5'- CCAACTTGCTTTGCAGGAG -3'

Posted On

2013-05-23