Mutagenetix > Incidental Mutation

Incidental Mutation 'RF018:Tmtc1'

603672

Institutional Source

Beutler Lab

Gene Symbol

Tmtc1

Ensembl Gene

ENSMUSG00000030306

Gene Name

transmembrane and tetratricopeptide repeat containing 1

Synonyms

Accession Numbers

Essential gene?

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

Stock #

RF018 (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 148149009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 699 (Y699C)

Ref Sequence

ENSEMBL: ENSMUSP00000056353 (fasta)

Gene Model

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

AlphaFold

Q3UV71

Predicted Effect

probably damaging
Transcript: ENSMUST00000060095
AA Change: Y699C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056353
Gene: ENSMUSG00000030306
AA Change: Y699C

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 damaging
Transcript: ENSMUST00000100772
AA Change: Y661C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098335
Gene: ENSMUSG00000030306
AA Change: Y661C

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	GTGGCTGCT	GTGGCTGCTTTGGCTGCT	1: 82,891,293 (GRCm39)		probably benign	Het
Abca15	T	A	7: 119,993,683 (GRCm39)	V1301E	possibly damaging	Het
Adcy10	T	A	1: 165,379,678 (GRCm39)	V980E	probably damaging	Het
Aldh1a2	T	C	9: 71,192,552 (GRCm39)	V469A	probably damaging	Het
Alk	T	A	17: 72,256,808 (GRCm39)	T684S	probably benign	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,693,965 (GRCm39)		probably benign	Het
Anks1b	G	A	10: 89,869,087 (GRCm39)	G49D	probably damaging	Het
Blm	CCTCCTCC	CCTCCTCCTCCTACTCCTCC	7: 80,162,674 (GRCm39)		probably null	Het
Btnl10	CAAA	CAAAAAA	11: 58,814,752 (GRCm39)		probably benign	Het
Ccdc81	C	A	7: 89,515,906 (GRCm39)		probably null	Het
Cd209g	A	G	8: 4,187,398 (GRCm39)	Y194C	probably benign	Het
Cenpc1	A	T	5: 86,193,228 (GRCm39)	S220R	possibly damaging	Het
Ddx42	A	T	11: 106,123,630 (GRCm39)		probably null	Het
Dock4	GTGCCGGTGCCCGT	G	12: 40,894,398 (GRCm39)		probably null	Het
Eif5b	A	T	1: 38,060,673 (GRCm39)		probably null	Het
Ell2	C	A	13: 75,911,727 (GRCm39)	H338N	probably damaging	Het
Entpd2	CTT	CTTT	2: 25,290,907 (GRCm39)		probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACGCACTCCTGGTGT	17: 23,981,140 (GRCm39)		probably null	Het
Gm8369	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	19: 11,489,106 (GRCm39)		probably null	Het
Gnat2	T	C	3: 108,003,645 (GRCm39)	S107P	unknown	Het
Guk1	T	A	11: 59,077,234 (GRCm39)	D70V	probably benign	Het
Itpkb	C	T	1: 180,160,887 (GRCm39)	R338W	probably damaging	Het
Krtap28-10	ACCACAGCCACAGCCACCACAGCCACAGCC	ACCACAGCCACAGCCCCCACAGCCACAGCCACCACAGCCACAGCC	1: 83,019,974 (GRCm39)		probably benign	Het
Lamp3	A	C	16: 19,520,000 (GRCm39)	I61R	probably benign	Het
Lrch1	GCTGGTGGTGT	G	14: 75,184,995 (GRCm39)		probably null	Het
Lrp1b	C	T	2: 41,000,919 (GRCm39)	E2216K		Het
Lrrc27	A	G	7: 138,806,016 (GRCm39)	D227G	probably benign	Het
Lrrk1	C	T	7: 66,031,250 (GRCm39)	G16E	possibly damaging	Het
Lrrtm1	T	A	6: 77,221,334 (GRCm39)	S264T	possibly damaging	Het
Lypd8	CCAATCACCAACA	CCAATCACCAACAGTTTCCTCGCCTCTGTTACCCCACCAATCACCAACA	11: 58,281,058 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGAAG	X: 70,162,455 (GRCm39)		probably benign	Het
Mpo	G	C	11: 87,688,465 (GRCm39)	A375P	probably damaging	Het
Myo9a	A	G	9: 59,776,869 (GRCm39)	H1089R	probably benign	Het
Nalf2	CGCCGC	CGCCGCTGCCGC	X: 98,864,967 (GRCm39)		probably benign	Het
Ndufc2	T	C	7: 97,056,228 (GRCm39)	*109Q	probably null	Het
Nudt16	A	T	9: 105,008,898 (GRCm39)	Y28N	probably damaging	Het
Nudt4	A	T	10: 95,385,675 (GRCm39)		probably null	Het
Nusap1	AGATACACGTTAGCAGTGAGGAGCAAGCTG	AGATACACGTTAGCAGTGAGGAGCAAGCTGCGATACACGTTAGCAGTGAGGAGCAAGCTG	2: 119,458,059 (GRCm39)		probably benign	Het
Or2ag15	T	A	7: 106,340,692 (GRCm39)	I150F	probably benign	Het
P2ry12	T	A	3: 59,124,833 (GRCm39)	T281S	probably benign	Het
P4ha2	TGTTGG	T	11: 54,001,072 (GRCm39)		probably null	Het
Pcnx2	A	G	8: 126,604,258 (GRCm39)	V666A	probably damaging	Het
Pde6a	T	A	18: 61,364,475 (GRCm39)	I177N	possibly damaging	Het
Pgm1	A	T	4: 99,819,500 (GRCm39)		probably null	Het
Plce1	T	A	19: 38,705,651 (GRCm39)	W1019R	probably damaging	Het
Plch1	C	A	3: 63,628,636 (GRCm39)	K542N	probably damaging	Het
Plekhj1	T	C	10: 80,632,471 (GRCm39)	Q113R	not run	Het
Postn	A	T	3: 54,291,913 (GRCm39)	I705F	probably damaging	Het
Ppp1r15b	G	T	1: 133,059,352 (GRCm39)		probably benign	Het
Prkab1	T	C	5: 116,159,689 (GRCm39)	E59G	probably damaging	Het
Qrfprl	T	A	6: 65,433,174 (GRCm39)	Y331*	probably null	Het
Raph1	GG	GGGGG	1: 60,528,426 (GRCm39)		probably benign	Het
Rassf6	AGCAATGGGGATTC	AGCAATGGGGATTCTGCCTCACTCATGGTCCTGTAGCGCAATGGGGATTC	5: 90,756,788 (GRCm39)		probably benign	Het
Rnf144a	TCTC	TCTCTCTCTCTCTCTCACTC	12: 26,364,013 (GRCm39)		probably benign	Het
Ros1	T	A	10: 52,031,217 (GRCm39)	M484L	probably benign	Het
Rpa1	GCTGCTGCC	GC	11: 75,209,343 (GRCm39)		probably null	Het
Sectm1b	A	G	11: 120,945,756 (GRCm39)	V195A	probably benign	Het
Sirpa	TCATCAG	T	2: 129,451,123 (GRCm39)		probably null	Het
Slc28a1	T	A	7: 80,819,032 (GRCm39)		probably null	Het
Sphk1	G	C	11: 116,425,771 (GRCm39)	S42T	possibly damaging	Het
Spta1	T	C	1: 174,036,885 (GRCm39)	L1132P	probably damaging	Het
Srrt	A	T	5: 137,298,262 (GRCm39)	N303K	probably benign	Het
Ssh2	A	G	11: 77,344,880 (GRCm39)	E955G	probably damaging	Het
Strn	CCAGTC	CCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCACAGTC	17: 78,984,712 (GRCm39)		probably null	Het
Tchhl1	T	C	3: 93,377,691 (GRCm39)	F132L	probably benign	Het
Tex14	A	G	11: 87,405,572 (GRCm39)	E828G	probably benign	Het
Tfeb	CAG	CAGGAG	17: 48,097,020 (GRCm39)		probably benign	Het
Ubn1	A	G	16: 4,882,256 (GRCm39)	Y239C	probably damaging	Het
Vmn2r23	T	G	6: 123,690,075 (GRCm39)	L317R	probably benign	Het
Vmn2r78	C	T	7: 86,603,639 (GRCm39)	R606*	probably null	Het
Vps72	T	G	3: 95,028,719 (GRCm39)		probably null	Het
Zc3h11a	A	G	1: 133,554,853 (GRCm39)	S376P	possibly damaging	Het
Zfp384	GCCCAGGC	GCCCAGGCCCAGTCCCAGGC	6: 125,013,452 (GRCm39)		probably benign	Het
Zfp598	CAACCAC	CAACCACAACCAC	17: 24,899,745 (GRCm39)		probably benign	Het
Zfp628	TACTCCTCCACCC	T	7: 4,923,948 (GRCm39)		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
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
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
Z1177:Tmtc1	UTSW	6	148,312,578 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- TCTGTCACCTGAGTTGGCAAC -3'
(R):5'- AGGCTGATACTCAAGCCTATCAC -3'

Sequencing Primer
(F):5'- TGTTCCAGCTACTAAGACACCAGTG -3'
(R):5'- TCACAAACTGCATAGCTGATGG -3'

Posted On

2019-12-04