Mutagenetix > Incidental Mutation

Incidental Mutation 'R6662:Tchp'

528014

Institutional Source

Beutler Lab

Gene Symbol

Tchp

Ensembl Gene

ENSMUSG00000002486

Gene Name

trichoplein, keratin filament binding

Synonyms

A930031F18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6662 (G1)

Quality Score

130.008

Status

Validated

Chromosome

Chromosomal Location

114707760-114722327 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 114720015 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000092009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094441]

AlphaFold

Q3TVW5

Predicted Effect

probably null
Transcript: ENSMUST00000094441

SMART Domains

Protein: ENSMUSP00000092009
Gene: ENSMUSG00000002486

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
coiled coil region	69	140	N/A	INTRINSIC
Pfam:TPH	145	485	1.5e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000112199

SMART Domains

Protein: ENSMUSP00000107818
Gene: ENSMUSG00000002486

Domain	Start	End	E-Value	Type
Pfam:Trichoplein	1	233	1.4e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128625

Predicted Effect

probably benign
Transcript: ENSMUST00000131679

SMART Domains

Protein: ENSMUSP00000119890
Gene: ENSMUSG00000002486

Domain	Start	End	E-Value	Type
low complexity region	15	39	N/A	INTRINSIC
Pfam:TPH	50	215	1.5e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202252

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202276

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	G	19: 57,073,853		probably null	Het
Acox1	A	G	11: 116,175,323	Y418H	probably damaging	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Aldh3a1	G	A	11: 61,214,655	V196I	probably benign	Het
Aox3	A	G	1: 58,118,615	K44E	probably damaging	Het
Bad	T	A	19: 6,951,070		probably benign	Het
BC034090	G	T	1: 155,226,339	Q60K	possibly damaging	Het
Casp6	A	G	3: 129,912,226	T181A	probably benign	Het
Catsperg2	G	A	7: 29,719,513		probably benign	Het
Ccdc14	T	C	16: 34,690,794	L46P	probably damaging	Het
Ces1b	A	G	8: 93,064,069	L364S	probably benign	Het
Cfap45	T	C	1: 172,529,850	I15T	probably benign	Het
D730048I06Rik	C	A	9: 35,790,000	R6M	possibly damaging	Het
Dph5	G	A	3: 115,928,556	E228K	probably benign	Het
Fat4	G	T	3: 38,956,821	L2023F	possibly damaging	Het
Garem1	T	C	18: 21,148,247	N351D	probably benign	Het
Gm14124	G	A	2: 150,266,252		probably null	Het
Grm2	C	T	9: 106,648,053	A488T	probably benign	Het
Ifit3b	A	G	19: 34,611,937	E171G	probably damaging	Het
Il1rn	A	T	2: 24,336,875		probably null	Het
Itih5	A	T	2: 10,249,181	I748F	probably benign	Het
Kcnh5	C	A	12: 75,007,611	D520Y	probably damaging	Het
Mgat5	C	A	1: 127,469,237	H574N	probably damaging	Het
Moxd1	A	C	10: 24,284,760	D437A	probably damaging	Het
Mybpc2	A	G	7: 44,506,166	F888L	probably benign	Het
Ncs1	T	A	2: 31,287,360	L183Q	probably damaging	Het
Neto2	A	T	8: 85,663,215	D206E	probably damaging	Het
Omp	A	G	7: 98,145,339	L27P	probably damaging	Het
Oxsm	A	G	14: 16,242,287	S161P	probably benign	Het
Pde4b	A	G	4: 102,601,898	I381M	possibly damaging	Het
Pramel5	A	T	4: 144,273,105	N137K	probably benign	Het
Prss33	T	C	17: 23,833,960	S247G	probably damaging	Het
Rassf9	T	A	10: 102,546,038	L425Q	possibly damaging	Het
Setx	A	T	2: 29,158,114	D1909V	probably damaging	Het
Slc26a3	A	T	12: 31,457,346	K402*	probably null	Het
Slco1a6	G	A	6: 142,133,215	T118I	probably damaging	Het
Syne1	A	G	10: 5,128,416	L6769P	probably damaging	Het
Tas2r107	A	T	6: 131,659,489	V199D	possibly damaging	Het
Trdn	A	T	10: 33,474,487	N684I	probably damaging	Het
Trio	G	T	15: 27,854,996	T700K	probably benign	Het
Ttn	C	T	2: 76,755,898	V20084I	probably benign	Het
Ubl3	A	T	5: 148,509,306	Y62*	probably null	Het
Uckl1	A	G	2: 181,573,260	Y267H	possibly damaging	Het
Zfp786	T	C	6: 47,826,986	N41D	probably damaging	Het
Zfp983	T	C	17: 21,662,085	S310P	probably damaging	Het

Other mutations in Tchp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Tchp	APN	5	114708733	missense	probably benign	0.00
R0266:Tchp	UTSW	5	114709333	missense	possibly damaging	0.87
R0454:Tchp	UTSW	5	114720182	missense	probably benign	0.02
R0709:Tchp	UTSW	5	114717453	missense	probably damaging	1.00
R0725:Tchp	UTSW	5	114719621	missense	probably benign	0.04
R2680:Tchp	UTSW	5	114709519	critical splice donor site	probably null
R4604:Tchp	UTSW	5	114719573	splice site	probably null
R4956:Tchp	UTSW	5	114719620	missense	probably damaging	0.99
R6945:Tchp	UTSW	5	114709350	missense	possibly damaging	0.76
R7002:Tchp	UTSW	5	114708796	missense	probably benign	0.39
R7288:Tchp	UTSW	5	114715569	missense	probably damaging	1.00
R7447:Tchp	UTSW	5	114715655	missense	probably benign	0.00
R8021:Tchp	UTSW	5	114718417	missense	probably damaging	1.00
R8066:Tchp	UTSW	5	114709411	missense	probably benign	0.32
R8087:Tchp	UTSW	5	114719604	missense	probably damaging	1.00
R8403:Tchp	UTSW	5	114708766	missense	possibly damaging	0.87
R9053:Tchp	UTSW	5	114715855	missense	probably benign	0.22
R9149:Tchp	UTSW	5	114721123	nonsense	probably null
R9311:Tchp	UTSW	5	114708816	missense	probably benign	0.02
R9436:Tchp	UTSW	5	114709385	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTGAGTCCAGTCCATTGCTTGC -3'
(R):5'- CTGCAGCAAAGCATTGGAGTG -3'

Sequencing Primer
(F):5'- CATTGCTTGCTTACATCCAAATC -3'
(R):5'- GCATTGGAGTGCTCTTCCGC -3'

Posted On

2018-07-24