Mutagenetix > Incidental Mutation

Incidental Mutation 'R6482:Tmtc1'

517166

Institutional Source

Beutler Lab

Gene Symbol

Tmtc1

Ensembl Gene

ENSMUSG00000030306

Gene Name

transmembrane and tetratricopeptide repeat containing 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R6482 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148232430-148444389 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 148412745 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 119 (F119L)

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
AA Change: F209L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056353
Gene: ENSMUSG00000030306
AA Change: F209L

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: F209L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098335
Gene: ENSMUSG00000030306
AA Change: F209L

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: F119L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115543
Gene: ENSMUSG00000030306
AA Change: F119L

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: F119L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000144991
Gene: ENSMUSG00000030306
AA Change: F119L

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: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	T	C	11: 70,011,562	I415V	probably benign	Het
Akap8l	A	G	17: 32,345,396	F6L	possibly damaging	Het
Ano3	T	A	2: 110,697,055	N603Y	probably damaging	Het
Casp8ap2	T	C	4: 32,634,813	S116P	probably damaging	Het
Ccdc110	A	T	8: 45,942,788	Q572L	probably benign	Het
Chit1	T	C	1: 134,143,242	S20P	probably damaging	Het
Col22a1	G	A	15: 71,890,489	P107L	possibly damaging	Het
Dpys	T	C	15: 39,841,973	H248R	probably damaging	Het
Dsg2	A	T	18: 20,601,314	K783I	possibly damaging	Het
Efnb2	A	T	8: 8,620,637	V321E	probably damaging	Het
Fbxo11	A	T	17: 88,012,658	Y209N	probably benign	Het
Gm21936	A	G	12: 87,795,795	Y95C	probably damaging	Het
Gm35315	A	T	5: 110,078,089	C495S	possibly damaging	Het
Hrh1	A	G	6: 114,480,763	Q335R	possibly damaging	Het
Il12rb2	A	G	6: 67,356,686	L203P	probably damaging	Het
Itgav	T	C	2: 83,794,270	S735P	probably damaging	Het
Klrg1	G	T	6: 122,271,453	C162*	probably null	Het
Mcc	T	C	18: 44,445,864	S651G	possibly damaging	Het
Nkx2-2	T	A	2: 147,185,976	I15F	probably damaging	Het
Nppa	G	A	4: 148,000,871	V13I	probably benign	Het
Olfr1104	G	C	2: 87,022,525	F6L	probably benign	Het
Pde2a	A	G	7: 101,501,037	N228D	probably benign	Het
Pgpep1l	C	T	7: 68,239,067		probably null	Het
Plekhg3	A	G	12: 76,576,004	N673D	probably benign	Het
Plxna4	A	G	6: 32,516,737	S315P	probably benign	Het
Psg21	A	T	7: 18,654,739		probably null	Het
Rnf111	T	C	9: 70,429,607	T925A	probably damaging	Het
Rnf219	A	T	14: 104,479,817	C373*	probably null	Het
Spag9	T	C	11: 94,093,502	F734L	possibly damaging	Het
Tarbp1	A	G	8: 126,450,695	V746A	probably benign	Het
Ttc21b	A	G	2: 66,226,900	M576T	probably benign	Het
Usp48	T	A	4: 137,634,921	V765E	probably damaging	Het
Vmn1r20	A	G	6: 57,432,108	S140G	probably benign	Het
Vwde	A	G	6: 13,205,844	S235P	probably damaging	Het
Wapl	A	G	14: 34,692,692	S504G	probably benign	Het
Wnt5b	A	T	6: 119,433,612	L289Q	possibly damaging	Het
Zfp142	G	A	1: 74,570,217		probably null	Het
Zfp385b	ATCTTCTTCTTCT	ATCTTCTTCTTCTTCT	2: 77,719,648		probably benign	Het
Zfp948	A	G	17: 21,587,551	H335R	probably benign	Het

Other mutations in Tmtc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Tmtc1	APN	6	148443944	missense	probably benign	0.02
IGL01377:Tmtc1	APN	6	148245787	missense	possibly damaging	0.82
IGL01728:Tmtc1	APN	6	148411066	missense	probably benign	0.02
IGL02904:Tmtc1	APN	6	148249482	splice site	probably benign
R0044:Tmtc1	UTSW	6	148412829	splice site	probably benign
R0107:Tmtc1	UTSW	6	148425913	missense	possibly damaging	0.85
R0114:Tmtc1	UTSW	6	148412830	splice site	probably benign
R0243:Tmtc1	UTSW	6	148246837	missense	probably damaging	1.00
R0310:Tmtc1	UTSW	6	148249581	missense	probably benign	0.00
R0441:Tmtc1	UTSW	6	148415758	missense	probably damaging	1.00
R0491:Tmtc1	UTSW	6	148412640	critical splice donor site	probably null
R0578:Tmtc1	UTSW	6	148355218	intron	probably benign
R0685:Tmtc1	UTSW	6	148411240	missense	probably benign	0.39
R1470:Tmtc1	UTSW	6	148305985	splice site	probably benign
R1533:Tmtc1	UTSW	6	148245710	critical splice donor site	probably null
R1577:Tmtc1	UTSW	6	148412820	critical splice acceptor site	probably null
R1617:Tmtc1	UTSW	6	148355404	intron	probably benign
R1763:Tmtc1	UTSW	6	148294618	missense	probably damaging	1.00
R1909:Tmtc1	UTSW	6	148444048	missense	possibly damaging	0.93
R1943:Tmtc1	UTSW	6	148425918	nonsense	probably null
R2050:Tmtc1	UTSW	6	148262883	missense	probably damaging	1.00
R2305:Tmtc1	UTSW	6	148244697	missense	probably damaging	0.99
R3813:Tmtc1	UTSW	6	148354891	intron	probably benign
R4355:Tmtc1	UTSW	6	148355098	intron	probably benign
R4537:Tmtc1	UTSW	6	148262782	critical splice donor site	probably null
R4731:Tmtc1	UTSW	6	148284980	splice site	probably null
R4732:Tmtc1	UTSW	6	148284980	splice site	probably null
R4733:Tmtc1	UTSW	6	148284980	splice site	probably null
R4960:Tmtc1	UTSW	6	148443947	unclassified	probably benign
R5048:Tmtc1	UTSW	6	148237846	missense	possibly damaging	0.96
R5118:Tmtc1	UTSW	6	148269987	intron	probably benign
R5279:Tmtc1	UTSW	6	148355131	intron	probably benign
R5310:Tmtc1	UTSW	6	148355412	intron	probably benign
R5411:Tmtc1	UTSW	6	148443899	critical splice donor site	probably null
R5646:Tmtc1	UTSW	6	148246831	missense	probably damaging	1.00
R5868:Tmtc1	UTSW	6	148237855	missense	probably damaging	1.00
R7162:Tmtc1	UTSW	6	148271487	missense	probably damaging	1.00
R7462:Tmtc1	UTSW	6	148325145	missense	probably damaging	1.00
R7702:Tmtc1	UTSW	6	148443917	missense	probably benign	0.35
R8304:Tmtc1	UTSW	6	148271385	missense	probably damaging	0.99
R8353:Tmtc1	UTSW	6	148425848	missense	probably benign	0.11
R9032:Tmtc1	UTSW	6	148336251	nonsense	probably null
R9085:Tmtc1	UTSW	6	148336251	nonsense	probably null
R9089:Tmtc1	UTSW	6	148245717	missense	possibly damaging	0.85
R9287:Tmtc1	UTSW	6	148284892	missense	probably benign	0.03
R9649:Tmtc1	UTSW	6	148243216	missense	probably damaging	1.00
RF018:Tmtc1	UTSW	6	148247511	missense	probably damaging	1.00
Z1177:Tmtc1	UTSW	6	148411080	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- GTCAAGATTCCCTCAGCAGC -3'
(R):5'- AAATCCTTGCTCAGAACACCTTG -3'

Sequencing Primer
(F):5'- CAGATGTGGCACTCTTAGAACCATG -3'
(R):5'- AACACCTTGTTCTACGTCAGATAC -3'

Posted On

2018-05-21