Mutagenetix > Incidental Mutation

Incidental Mutation 'R4960:Tmtc1'

382269

Institutional Source

Beutler Lab

Gene Symbol

Tmtc1

Ensembl Gene

ENSMUSG00000030306

Gene Name

transmembrane and tetratricopeptide repeat containing 1

Synonyms

MMRRC Submission

042557-MU

Accession Numbers

Essential gene?

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

Stock #

R4960 (G1)

Quality Score

152

Status

Not validated

Chromosome

Chromosomal Location

148133928-148345887 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

TGTCCGCCAGGCCCTTGCCCCAGAAGTC to TGTC at 148345445 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: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,566,509 (GRCm39)		probably null	Het
Abtb3	A	C	10: 85,487,526 (GRCm39)	N998T	probably benign	Het
Adamts20	T	C	15: 94,277,655 (GRCm39)	H269R	probably benign	Het
Adamtsl1	C	T	4: 86,342,410 (GRCm39)	Q1642*	probably null	Het
Adamtsl3	A	C	7: 82,216,185 (GRCm39)	T863P	probably damaging	Het
Adcy3	G	T	12: 4,184,896 (GRCm39)	V191L	probably benign	Het
Akap9	G	T	5: 4,007,664 (GRCm39)	R244L	probably benign	Het
Anapc1	C	T	2: 128,526,514 (GRCm39)	V95M	probably benign	Het
Arhgap17	G	T	7: 122,886,149 (GRCm39)		probably benign	Het
Art2b	T	A	7: 101,229,437 (GRCm39)	Y154F	probably damaging	Het
Atrn	C	T	2: 130,836,967 (GRCm39)	R1144*	probably null	Het
Atxn3	T	C	12: 101,914,638 (GRCm39)	S29G	possibly damaging	Het
Batf3	C	T	1: 190,830,707 (GRCm39)	P18S	probably benign	Het
Bmal1	T	A	7: 112,898,642 (GRCm39)		probably null	Het
Bmpr1b	A	T	3: 141,576,546 (GRCm39)	C96S	probably damaging	Het
Bola1	A	G	3: 96,104,370 (GRCm39)	S75P	probably benign	Het
Cela3a	G	A	4: 137,129,959 (GRCm39)	R221*	probably null	Het
Chat	A	G	14: 32,142,771 (GRCm39)	V406A	possibly damaging	Het
Chd1	T	A	17: 15,962,493 (GRCm39)	M750K	probably damaging	Het
Clip1	T	A	5: 123,792,066 (GRCm39)	K35*	probably null	Het
Cnr2	G	A	4: 135,644,918 (GRCm39)	G332D	probably benign	Het
Cnrip1	A	G	11: 17,002,228 (GRCm39)	D20G	probably damaging	Het
Col2a1	T	C	15: 97,874,030 (GRCm39)	Y1384C	unknown	Het
Col6a3	T	A	1: 90,731,940 (GRCm39)	I831F	probably damaging	Het
Cp	G	A	3: 20,027,961 (GRCm39)	V456I	probably damaging	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Ctbp2	T	C	7: 132,615,967 (GRCm39)	I323V	probably benign	Het
Ctnna2	C	T	6: 77,630,094 (GRCm39)	R120H	probably damaging	Het
Cyp2a12	A	G	7: 26,733,575 (GRCm39)	H318R	probably benign	Het
Cyp2c66	A	T	19: 39,151,766 (GRCm39)		probably null	Het
Cyp2j8	T	C	4: 96,395,614 (GRCm39)	T4A	probably benign	Het
Cyp4v3	A	G	8: 45,773,674 (GRCm39)	V165A	possibly damaging	Het
D5Ertd579e	G	A	5: 36,773,571 (GRCm39)	R275*	probably null	Het
Deup1	G	T	9: 15,512,264 (GRCm39)	Q160K	possibly damaging	Het
Dhx36	A	T	3: 62,404,280 (GRCm39)	I221K	probably damaging	Het
Dnah7b	T	A	1: 46,272,886 (GRCm39)	M2338K	probably benign	Het
Dync2li1	T	G	17: 84,940,969 (GRCm39)	L62V	probably benign	Het
Ephb3	A	G	16: 21,039,245 (GRCm39)	K367R	probably benign	Het
Etv3	A	G	3: 87,435,368 (GRCm39)	K80E	probably damaging	Het
Flacc1	T	A	1: 58,706,965 (GRCm39)	E234V	probably damaging	Het
Gdap1l1	T	C	2: 163,295,779 (GRCm39)	F346L	probably benign	Het
Gm4787	C	T	12: 81,426,090 (GRCm39)	V23M	probably damaging	Het
Greb1l	T	A	18: 10,547,306 (GRCm39)	I1508N	probably damaging	Het
Heatr5b	G	A	17: 79,139,013 (GRCm39)	T43I	probably benign	Het
Hephl1	T	C	9: 14,997,586 (GRCm39)	Y360C	probably damaging	Het
Itgam	A	C	7: 127,715,012 (GRCm39)	T865P	possibly damaging	Het
Kcnma1	T	C	14: 24,054,186 (GRCm39)		probably benign	Het
Kidins220	T	A	12: 25,042,259 (GRCm39)	C185*	probably null	Het
Klhl35	G	T	7: 99,118,275 (GRCm39)	G273V	probably damaging	Het
Lama5	A	G	2: 179,850,045 (GRCm39)		probably null	Het
Lamc3	A	G	2: 31,805,966 (GRCm39)	Q689R	probably benign	Het
Lnx2	C	T	5: 146,955,850 (GRCm39)	V649I	probably benign	Het
Lrrc43	A	G	5: 123,637,675 (GRCm39)	I281V	probably benign	Het
Ly6g6d	C	A	17: 35,290,730 (GRCm39)	A67S	probably benign	Het
Map1b	A	G	13: 99,568,720 (GRCm39)	S1334P	probably benign	Het
Mast1	T	A	8: 85,644,500 (GRCm39)	T810S	probably benign	Het
Matcap1	G	T	8: 106,009,843 (GRCm39)	R369S	probably damaging	Het
Mbnl1	A	G	3: 60,503,117 (GRCm39)	M1V	probably null	Het
Mc5r	T	G	18: 68,471,890 (GRCm39)	M83R	possibly damaging	Het
Mkln1	T	C	6: 31,435,941 (GRCm39)	F300S	probably damaging	Het
Mrgpre	A	T	7: 143,335,088 (GRCm39)	C138*	probably null	Het
Mtarc2	T	A	1: 184,566,116 (GRCm39)	M186L	probably benign	Het
Ncbp1	C	T	4: 46,165,273 (GRCm39)	Q529*	probably null	Het
Nherf1	A	G	11: 115,067,289 (GRCm39)	D180G	probably benign	Het
Nrcam	A	G	12: 44,613,082 (GRCm39)	D591G	probably benign	Het
Nrxn3	A	T	12: 88,761,971 (GRCm39)	H6L	possibly damaging	Het
Nsmaf	T	A	4: 6,423,342 (GRCm39)	D342V	probably damaging	Het
Oip5	TGAGAAA	T	2: 119,448,342 (GRCm39)		probably benign	Het
Omt2a	T	A	9: 78,220,305 (GRCm39)	E31D	possibly damaging	Het
Or4f62	A	G	2: 111,986,697 (GRCm39)	T134A	probably benign	Het
Or52n2b	A	G	7: 104,565,915 (GRCm39)	I196T	probably benign	Het
Or5ac20	A	G	16: 59,104,348 (GRCm39)	S171P	probably benign	Het
Or6c88	A	C	10: 129,406,895 (GRCm39)	I124L	probably damaging	Het
Or9a2	C	A	6: 41,749,003 (GRCm39)	V77F	probably damaging	Het
Phyhipl	A	G	10: 70,404,815 (GRCm39)	V131A	probably benign	Het
Pik3r5	A	G	11: 68,384,464 (GRCm39)	M619V	probably benign	Het
Pramel19	T	C	4: 101,798,661 (GRCm39)	Y211H	probably benign	Het
Ptprg	A	T	14: 12,237,837 (GRCm38)	E1431D	probably benign	Het
Rnf20	A	G	4: 49,638,029 (GRCm39)	T85A	probably damaging	Het
Rtn3	A	T	19: 7,433,886 (GRCm39)	I683K	probably damaging	Het
Rwdd3	A	G	3: 120,952,470 (GRCm39)	F174L	probably damaging	Het
Ryr1	T	C	7: 28,778,208 (GRCm39)	Q2096R	possibly damaging	Het
Scrn1	T	C	6: 54,511,407 (GRCm39)	D111G	probably damaging	Het
Sema3e	A	G	5: 14,302,646 (GRCm39)	R724G	possibly damaging	Het
She	A	G	3: 89,741,544 (GRCm39)	M232V	possibly damaging	Het
Skic3	T	A	13: 76,333,275 (GRCm39)	V1508E	possibly damaging	Het
Slc25a54	A	T	3: 109,020,132 (GRCm39)	N382I	possibly damaging	Het
Slc26a2	T	C	18: 61,331,875 (GRCm39)	M519V	probably damaging	Het
Slc9a1	T	A	4: 133,097,967 (GRCm39)	L38H	probably damaging	Het
Snap47	A	T	11: 59,319,369 (GRCm39)	D256E	probably damaging	Het
Tacc3	A	G	5: 33,829,326 (GRCm39)	T610A	probably benign	Het
Tbc1d30	G	A	10: 121,103,121 (GRCm39)	T637M	probably benign	Het
Tbcd	T	A	11: 121,464,681 (GRCm39)	M572K	probably benign	Het
Thoc7	A	T	14: 13,953,460 (GRCm38)	D68E	probably benign	Het
Tmpo	G	A	10: 90,989,171 (GRCm39)	T250M	probably damaging	Het
Tnfaip1	A	T	11: 78,418,396 (GRCm39)	C224S	possibly damaging	Het
Tshz1	T	C	18: 84,032,987 (GRCm39)	T474A	probably benign	Het
Tspoap1	C	T	11: 87,657,222 (GRCm39)	Q345*	probably null	Het
Ttc21a	A	G	9: 119,774,067 (GRCm39)	E258G	possibly damaging	Het
Ttyh1	T	C	7: 4,131,225 (GRCm39)	L232P	probably damaging	Het
Usp2	T	A	9: 43,987,110 (GRCm39)	L136Q	probably damaging	Het
Usp31	T	C	7: 121,247,868 (GRCm39)	S1192G	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
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
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'- CTGGCTGATGACTAAAAGACCAG -3'
(R):5'- TTATTTGCAGCTGGGCCAC -3'

Sequencing Primer
(F):5'- CTGATGACTAAAAGACCAGGGGTAG -3'
(R):5'- ATGCCTGAGCCAAGCAG -3'

Posted On

2016-04-27