Mutagenetix > Incidental Mutation

Incidental Mutation 'R8353:Tmtc1'

660532

Institutional Source

Beutler Lab

Gene Symbol

Tmtc1

Ensembl Gene

ENSMUSG00000030306

Gene Name

transmembrane and tetratricopeptide repeat containing 1

Synonyms

MMRRC Submission

067805-MU

Accession Numbers

Essential gene?

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

Stock #

R8353 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148133928-148345887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148327346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 56 (T56A)

Ref Sequence

ENSEMBL: ENSMUSP00000115543 (fasta)

Gene Model

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

AlphaFold

Q3UV71

Predicted Effect

probably benign
Transcript: ENSMUST00000060095
AA Change: T146A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000056353
Gene: ENSMUSG00000030306
AA Change: T146A

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
AA Change: T146A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000098335
Gene: ENSMUSG00000030306
AA Change: T146A

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
AA Change: T56A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115543
Gene: ENSMUSG00000030306
AA Change: T56A

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
AA Change: T56A

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000144991
Gene: ENSMUSG00000030306
AA Change: T56A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	T	C	11: 76,310,659 (GRCm39)	T752A	probably damaging	Het
Adar	A	G	3: 89,657,569 (GRCm39)	T508A	possibly damaging	Het
Atxn3	T	A	12: 101,912,159 (GRCm39)	K85I	probably benign	Het
Atxn7l1	G	T	12: 33,197,882 (GRCm39)	W50L	probably damaging	Het
Bahcc1	T	C	11: 120,165,251 (GRCm39)	V894A	probably damaging	Het
Bloc1s3	G	T	7: 19,241,324 (GRCm39)	T68K	probably benign	Het
Bmerb1	T	A	16: 13,855,877 (GRCm39)		probably null	Het
Brd10	T	C	19: 29,731,242 (GRCm39)	H590R	possibly damaging	Het
C130073F10Rik	C	T	4: 101,747,881 (GRCm39)		probably null	Het
Cd55b	T	C	1: 130,341,870 (GRCm39)	I256V	probably benign	Het
Celsr3	T	A	9: 108,703,734 (GRCm39)	D72E	probably benign	Het
Cep41	T	C	6: 30,658,891 (GRCm39)	D152G	probably benign	Het
Cip2a	C	T	16: 48,821,436 (GRCm39)	Q181*	probably null	Het
Cpne8	C	A	15: 90,425,496 (GRCm39)	K285N	possibly damaging	Het
Csmd3	A	T	15: 47,813,349 (GRCm39)	I1061K	probably damaging	Het
Cspg4	A	T	9: 56,805,953 (GRCm39)	N2255Y	probably damaging	Het
Cym	T	A	3: 107,129,025 (GRCm39)		probably benign	Het
Cyp2d9	T	C	15: 82,336,720 (GRCm39)	V23A	probably damaging	Het
Dnah1	A	T	14: 31,005,159 (GRCm39)	I2365K	probably benign	Het
Dock5	C	T	14: 68,054,957 (GRCm39)		probably null	Het
Dop1a	A	T	9: 86,403,639 (GRCm39)	H1613L	probably damaging	Het
Dusp5	T	C	19: 53,518,113 (GRCm39)	V122A	possibly damaging	Het
Emc6	A	G	11: 73,067,399 (GRCm39)	L44P	probably damaging	Het
Fbxl6	G	T	15: 76,422,678 (GRCm39)	T80K	probably benign	Het
Frrs1	T	A	3: 116,692,822 (GRCm39)	M32K	possibly damaging	Het
Gfod1	A	G	13: 43,354,366 (GRCm39)	V203A	possibly damaging	Het
Gjc2	G	A	11: 59,067,840 (GRCm39)	A214V	unknown	Het
Gkn2	T	C	6: 87,355,135 (GRCm39)	Y115H	probably damaging	Het
Gpatch1	A	C	7: 34,976,704 (GRCm39)		probably benign	Het
Hemgn	G	T	4: 46,403,935 (GRCm39)	P20Q	possibly damaging	Het
Herc1	G	T	9: 66,415,571 (GRCm39)	V4849L	possibly damaging	Het
Hmcn2	A	T	2: 31,275,353 (GRCm39)		probably null	Het
Htt	C	A	5: 35,034,499 (GRCm39)	T1990N	possibly damaging	Het
Jrk	C	T	15: 74,578,474 (GRCm39)	W270*	probably null	Het
Katnb1	A	G	8: 95,822,072 (GRCm39)	D266G	probably damaging	Het
Klhl42	A	G	6: 147,009,421 (GRCm39)	K420R	probably damaging	Het
Lamb1	C	A	12: 31,356,998 (GRCm39)	T1035K	probably damaging	Het
Laptm5	T	C	4: 130,656,079 (GRCm39)		probably null	Het
Lilra5	T	C	7: 4,240,971 (GRCm39)	S22P	probably benign	Het
Mn1	A	G	5: 111,568,505 (GRCm39)	N825S	possibly damaging	Het
Mup17	C	T	4: 61,510,419 (GRCm39)		probably null	Het
Ncapd3	T	A	9: 26,983,100 (GRCm39)	D949E	probably benign	Het
Ncoa7	T	C	10: 30,570,155 (GRCm39)	E230G	probably damaging	Het
Nxnl1	A	G	8: 72,015,512 (GRCm39)	V132A	probably damaging	Het
Oard1	A	G	17: 48,723,788 (GRCm39)	I145V	probably benign	Het
Pabpc4	T	G	4: 123,189,846 (GRCm39)	L555R	probably benign	Het
Ppp1r11	G	T	17: 37,260,866 (GRCm39)	S21R	possibly damaging	Het
Prr36	T	C	8: 4,263,831 (GRCm39)		probably benign	Het
Serpina1a	T	A	12: 103,822,038 (GRCm39)	D298V	probably benign	Het
Sqle	A	T	15: 59,196,314 (GRCm39)	H369L	possibly damaging	Het
Stambp	T	C	6: 83,538,881 (GRCm39)	E173G	probably damaging	Het
Syne1	T	C	10: 5,300,983 (GRCm39)	N915S	probably damaging	Het
Tjap1	C	A	17: 46,593,530 (GRCm39)		probably benign	Het
Tmem62	A	C	2: 120,814,817 (GRCm39)	K30T	probably damaging	Het
Trav6-4	A	T	14: 53,691,946 (GRCm39)	M18L	probably benign	Het
Trim69	T	C	2: 121,998,490 (GRCm39)	I154T	possibly damaging	Het
Uggt1	T	C	1: 36,209,377 (GRCm39)		probably null	Het
Usp48	T	A	4: 137,350,693 (GRCm39)	M60K	probably benign	Het
Usp7	A	G	16: 8,513,735 (GRCm39)	S753P	probably benign	Het
Vmn2r27	A	C	6: 124,169,404 (GRCm39)	N575K	probably damaging	Het
Wdfy4	A	C	14: 32,695,581 (GRCm39)	D2672E	probably benign	Het
Zdhhc17	G	A	10: 110,845,803 (GRCm39)	P30L	probably benign	Het
Zmym4	T	A	4: 126,800,905 (GRCm39)	Y565F	possibly 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
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
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'- CATTGTCAAGTAGTGGGGTACAG -3'
(R):5'- TGTCGAAACTCACCCGAAGC -3'

Sequencing Primer
(F):5'- GGGTAAACCTACACATGGTGTG -3'
(R):5'- CCCGAAGCTACTATTAAATAGTGC -3'

Posted On

2021-01-18