Mutagenetix > Incidental Mutation

Incidental Mutation 'R0114:Tmtc1'

20644

Institutional Source

Beutler Lab

Gene Symbol

Tmtc1

Ensembl Gene

ENSMUSG00000030306

Gene Name

transmembrane and tetratricopeptide repeat containing 1

Synonyms

MMRRC Submission

038400-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R0114 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

148133928-148345887 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 148314328 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 benign
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 benign
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 benign
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

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 93.2%
20x: 79.2%

Validation Efficiency

100% (99/99)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,861,978 (GRCm39)		probably benign	Het
4933427D14Rik	T	C	11: 72,086,625 (GRCm39)	Y262C	probably damaging	Het
Adamts1	C	A	16: 85,596,502 (GRCm39)	V379L	probably benign	Het
Akt3	T	C	1: 176,894,817 (GRCm39)	D260G	probably damaging	Het
Alms1	T	C	6: 85,596,785 (GRCm39)	L537P	probably benign	Het
Anln	A	T	9: 22,264,642 (GRCm39)	I876N	probably damaging	Het
Ano9	A	T	7: 140,683,152 (GRCm39)		probably benign	Het
Arhgef10l	T	C	4: 140,311,194 (GRCm39)	E218G	probably benign	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Atp9a	G	T	2: 168,552,776 (GRCm39)	Y63*	probably null	Het
Bmpr2	G	T	1: 59,854,499 (GRCm39)	C116F	probably damaging	Het
Cand1	T	C	10: 119,052,427 (GRCm39)	D233G	probably benign	Het
Cftr	A	T	6: 18,282,447 (GRCm39)	H1049L	probably damaging	Het
Ckap5	A	T	2: 91,450,457 (GRCm39)	D1975V	possibly damaging	Het
Cyp26c1	T	C	19: 37,675,081 (GRCm39)	V134A	probably benign	Het
Dnai1	T	C	4: 41,605,686 (GRCm39)		probably benign	Het
Dpp10	T	C	1: 123,413,821 (GRCm39)	I163V	probably benign	Het
Fam151a	A	T	4: 106,591,201 (GRCm39)	I15F	possibly damaging	Het
Fanca	A	T	8: 124,015,230 (GRCm39)		probably null	Het
Fes	A	G	7: 80,027,783 (GRCm39)	V787A	probably damaging	Het
Fnip1	C	T	11: 54,378,627 (GRCm39)		probably benign	Het
Gabpb1	A	G	2: 126,495,494 (GRCm39)	I86T	probably damaging	Het
Gmds	A	T	13: 32,411,264 (GRCm39)	S57T	probably benign	Het
Gnpat	T	G	8: 125,610,096 (GRCm39)	D426E	probably benign	Het
Gnptab	C	A	10: 88,269,262 (GRCm39)	P655Q	possibly damaging	Het
Gpi-ps	A	G	8: 5,690,359 (GRCm39)		noncoding transcript	Het
Herc1	T	A	9: 66,369,128 (GRCm39)	F2941I	probably damaging	Het
Herc2	T	C	7: 55,803,522 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Itga11	T	G	9: 62,642,575 (GRCm39)	V166G	probably damaging	Het
Itga11	T	C	9: 62,667,584 (GRCm39)	V639A	possibly damaging	Het
Itpr2	A	G	6: 146,214,377 (GRCm39)	F1490S	probably damaging	Het
Lama2	C	A	10: 26,869,064 (GRCm39)	E802*	probably null	Het
Lgi3	C	T	14: 70,768,469 (GRCm39)		probably benign	Het
Limch1	C	T	5: 67,193,427 (GRCm39)		probably benign	Het
Lipc	T	C	9: 70,711,063 (GRCm39)	N363S	probably damaging	Het
Lrit2	A	G	14: 36,790,002 (GRCm39)		probably null	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mug2	A	G	6: 122,017,607 (GRCm39)	Y448C	probably damaging	Het
Mybpc3	A	G	2: 90,954,839 (GRCm39)	E450G	probably damaging	Het
Myo5b	A	T	18: 74,875,242 (GRCm39)	T1549S	probably benign	Het
Naa15	T	C	3: 51,355,859 (GRCm39)		probably null	Het
Nckap1l	T	A	15: 103,363,455 (GRCm39)	C54S	probably benign	Het
Nlrp9b	A	G	7: 19,757,981 (GRCm39)	D406G	probably benign	Het
Nprl3	T	A	11: 32,189,784 (GRCm39)		probably benign	Het
Nvl	A	G	1: 180,947,956 (GRCm39)	V429A	probably benign	Het
Opa1	A	T	16: 29,448,453 (GRCm39)	N912Y	probably benign	Het
Or14j3	A	T	17: 37,900,306 (GRCm39)	*313K	probably null	Het
Or1x2	G	A	11: 50,918,431 (GRCm39)	V201I	probably benign	Het
Or52b4i	A	T	7: 102,191,938 (GRCm39)	Q265L	probably benign	Het
Or6c211	T	A	10: 129,505,467 (GRCm39)	Y307F	probably benign	Het
Pcnx1	T	C	12: 82,042,869 (GRCm39)	V2317A	possibly damaging	Het
Phf3	A	T	1: 30,844,524 (GRCm39)	N1478K	possibly damaging	Het
Phykpl	G	A	11: 51,477,480 (GRCm39)	D91N	probably benign	Het
Polr2b	T	A	5: 77,491,110 (GRCm39)	C984S	probably damaging	Het
Ppfibp1	A	G	6: 146,899,731 (GRCm39)	R141G	probably benign	Het
Ppm1d	G	A	11: 85,217,731 (GRCm39)	G20R	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Ppp2r5b	C	A	19: 6,278,461 (GRCm39)	V483F	probably benign	Het
Ppp4r4	T	A	12: 103,542,633 (GRCm39)	C132S	probably benign	Het
Prg2	A	G	2: 84,813,800 (GRCm39)		probably benign	Het
Prpf4b	G	A	13: 35,074,471 (GRCm39)		probably benign	Het
Rad54l2	T	C	9: 106,590,654 (GRCm39)	T491A	probably damaging	Het
Rnf213	G	T	11: 119,305,413 (GRCm39)	W548L	probably damaging	Het
Rusc2	G	T	4: 43,422,055 (GRCm39)	C825F	probably damaging	Het
Sema4b	A	G	7: 79,868,826 (GRCm39)		probably benign	Het
Sema6a	A	G	18: 47,423,244 (GRCm39)	V254A	probably damaging	Het
Slc13a3	A	G	2: 165,266,501 (GRCm39)	F346L	probably damaging	Het
Slc25a17	T	C	15: 81,222,160 (GRCm39)	D104G	probably damaging	Het
Specc1	A	T	11: 62,037,139 (GRCm39)	N707Y	possibly damaging	Het
Tex48	T	A	4: 63,526,696 (GRCm39)	E76V	probably damaging	Het
Tfr2	T	C	5: 137,575,727 (GRCm39)	V281A	probably benign	Het
Tgfb1i1	A	C	7: 127,848,666 (GRCm39)	Q238H	probably damaging	Het
Thoc6	G	A	17: 23,889,213 (GRCm39)	T122I	probably benign	Het
Tnfrsf8	T	C	4: 145,014,617 (GRCm39)	D264G	possibly damaging	Het
Trim43a	T	A	9: 88,466,213 (GRCm39)	I178N	probably damaging	Het
Ttn	G	C	2: 76,537,437 (GRCm39)	I26503M	possibly damaging	Het
Usp28	C	A	9: 48,950,323 (GRCm39)	D589E	probably benign	Het
Utp23	T	C	15: 51,745,907 (GRCm39)	S242P	probably damaging	Het
Vwa3a	A	G	7: 120,374,603 (GRCm39)	Y305C	probably benign	Het
Vwa5b1	C	A	4: 138,336,169 (GRCm39)	E142*	probably null	Het
Xrn2	A	T	2: 146,871,699 (GRCm39)	T374S	probably damaging	Het
Zfp735	A	T	11: 73,601,488 (GRCm39)	Q144L	probably benign	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
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
R0491:Tmtc1	UTSW	6	148,314,138 (GRCm39)	critical splice donor site	probably null
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'- GTTGGAAATGACTTACAACTTGTCCTGC -3'
(R):5'- TTGTACCAAGAAATCCGGCTTCCC -3'

Sequencing Primer
(F):5'- ACAACTTGTCCTGCTTGTGG -3'
(R):5'- actaaaccccttccttcagc -3'

Posted On

2013-04-11