Mutagenetix > Incidental Mutation

Incidental Mutation 'R6945:Tchp'

540836

Institutional Source

Beutler Lab

Gene Symbol

Tchp

Ensembl Gene

ENSMUSG00000002486

Gene Name

trichoplein, keratin filament binding

Synonyms

A930031F18Rik

MMRRC Submission

045059-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6945 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114707760-114722327 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114709350 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 77 (K77E)

Ref Sequence

ENSEMBL: ENSMUSP00000092009 (fasta)

Gene Model

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

AlphaFold

Q3TVW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094441
AA Change: K77E

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000092009
Gene: ENSMUSG00000002486
AA Change: K77E

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	A	C	5: 109,676,845 (GRCm38)	N246K	probably benign	Het
AA792892	C	T	5: 94,383,631 (GRCm38)	H125Y	possibly damaging	Het
Abcc5	T	A	16: 20,400,009 (GRCm38)	T208S	probably benign	Het
Acaa2	A	G	18: 74,793,309 (GRCm38)	E112G	probably benign	Het
Adgrb1	A	G	15: 74,550,024 (GRCm38)	N881S	probably damaging	Het
Adgre1	A	G	17: 57,410,844 (GRCm38)	E314G	probably benign	Het
Adgre1	A	G	17: 57,420,399 (GRCm38)	E443G	probably benign	Het
Akp3	A	G	1: 87,125,631 (GRCm38)	Y102C	probably damaging	Het
Birc6	A	G	17: 74,579,531 (GRCm38)	N618S	probably benign	Het
Bpifc	A	G	10: 85,979,214 (GRCm38)	V296A	probably benign	Het
Cacna2d3	G	A	14: 28,969,318 (GRCm38)		probably benign	Het
Cacnb4	T	C	2: 52,474,954 (GRCm38)	N99S	probably damaging	Het
Cd38	A	G	5: 43,908,006 (GRCm38)	Y283C	probably damaging	Het
Celf4	T	A	18: 25,496,236 (GRCm38)	Q411L	probably damaging	Het
Cemip	A	T	7: 83,998,547 (GRCm38)	H108Q	probably damaging	Het
Col23a1	A	G	11: 51,561,893 (GRCm38)	E225G	unknown	Het
Dnah11	T	C	12: 118,060,310 (GRCm38)	E1902G	probably damaging	Het
Dst	A	G	1: 34,190,490 (GRCm38)	D2063G	probably damaging	Het
Fsip2	A	T	2: 82,992,840 (GRCm38)	I6306L	probably benign	Het
Furin	A	G	7: 80,391,090 (GRCm38)	S667P	possibly damaging	Het
Glmp	T	A	3: 88,325,832 (GRCm38)	S92R	probably benign	Het
Gm11563	C	G	11: 99,658,472 (GRCm38)	C152S	unknown	Het
Gm3486	A	G	14: 41,484,561 (GRCm38)	V185A	probably benign	Het
Gm4070	G	A	7: 105,901,980 (GRCm38)	Q622*	probably null	Het
Hyal1	C	A	9: 107,579,170 (GRCm38)	A102E	probably damaging	Het
Invs	T	C	4: 48,421,785 (GRCm38)	C806R	probably benign	Het
L1td1	T	C	4: 98,733,696 (GRCm38)	V165A	probably benign	Het
Lama1	A	G	17: 67,813,866 (GRCm38)	T2666A		Het
Lrit1	G	C	14: 37,060,095 (GRCm38)	V242L	probably damaging	Het
Lrrc8a	A	G	2: 30,256,227 (GRCm38)	Y351C	probably damaging	Het
Myh7b	T	C	2: 155,622,232 (GRCm38)	F551S	possibly damaging	Het
Myo19	A	G	11: 84,897,560 (GRCm38)	T333A	probably benign	Het
Nrp2	A	T	1: 62,760,788 (GRCm38)	N387I	probably damaging	Het
Oas2	T	C	5: 120,736,139 (GRCm38)	D543G	probably benign	Het
Olfr1040	A	G	2: 86,146,084 (GRCm38)	S217P	probably damaging	Het
Olfr117	A	G	17: 37,659,514 (GRCm38)	I273T	possibly damaging	Het
Pak7	A	G	2: 136,100,939 (GRCm38)	V427A	probably benign	Het
Pfas	G	A	11: 69,000,530 (GRCm38)	A247V	probably benign	Het
Psat1	T	A	19: 15,917,181 (GRCm38)	T115S	probably benign	Het
Psme4	T	A	11: 30,837,437 (GRCm38)	D1077E	probably benign	Het
Rabgap1l	A	G	1: 160,682,182 (GRCm38)	S442P	probably benign	Het
Ralgapa1	A	G	12: 55,776,191 (GRCm38)	M280T	possibly damaging	Het
Rb1cc1	A	T	1: 6,261,032 (GRCm38)	E394D	probably damaging	Het
Seh1l	T	C	18: 67,789,390 (GRCm38)	V271A	probably benign	Het
Sf3b1	A	T	1: 54,997,156 (GRCm38)	N919K	probably benign	Het
Sftpd	A	G	14: 41,174,492 (GRCm38)	S245P	possibly damaging	Het
Slc22a15	T	C	3: 101,924,114 (GRCm38)	E2G	probably damaging	Het
Spta1	A	G	1: 174,209,325 (GRCm38)	D1134G	possibly damaging	Het
Syna	A	G	5: 134,558,961 (GRCm38)	V378A	probably damaging	Het
Tescl	T	C	7: 24,333,531 (GRCm38)	N123S	probably benign	Het
Trio	C	T	15: 27,824,090 (GRCm38)	R1443Q	probably damaging	Het
Trrap	A	T	5: 144,790,855 (GRCm38)	Y462F	possibly damaging	Het
Vmn1r78	A	G	7: 12,152,905 (GRCm38)	T148A	probably benign	Het
Vmn2r111	T	C	17: 22,559,051 (GRCm38)	N549S	possibly damaging	Het

Other mutations in Tchp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Tchp	APN	5	114,708,733 (GRCm38)	missense	probably benign	0.00
R0266:Tchp	UTSW	5	114,709,333 (GRCm38)	missense	possibly damaging	0.87
R0454:Tchp	UTSW	5	114,720,182 (GRCm38)	missense	probably benign	0.02
R0709:Tchp	UTSW	5	114,717,453 (GRCm38)	missense	probably damaging	1.00
R0725:Tchp	UTSW	5	114,719,621 (GRCm38)	missense	probably benign	0.04
R2680:Tchp	UTSW	5	114,709,519 (GRCm38)	critical splice donor site	probably null
R4604:Tchp	UTSW	5	114,719,573 (GRCm38)	splice site	probably null
R4956:Tchp	UTSW	5	114,719,620 (GRCm38)	missense	probably damaging	0.99
R6662:Tchp	UTSW	5	114,720,015 (GRCm38)	splice site	probably null
R7002:Tchp	UTSW	5	114,708,796 (GRCm38)	missense	probably benign	0.39
R7288:Tchp	UTSW	5	114,715,569 (GRCm38)	missense	probably damaging	1.00
R7447:Tchp	UTSW	5	114,715,655 (GRCm38)	missense	probably benign	0.00
R8021:Tchp	UTSW	5	114,718,417 (GRCm38)	missense	probably damaging	1.00
R8066:Tchp	UTSW	5	114,709,411 (GRCm38)	missense	probably benign	0.32
R8087:Tchp	UTSW	5	114,719,604 (GRCm38)	missense	probably damaging	1.00
R8403:Tchp	UTSW	5	114,708,766 (GRCm38)	missense	possibly damaging	0.87
R9053:Tchp	UTSW	5	114,715,855 (GRCm38)	missense	probably benign	0.22
R9149:Tchp	UTSW	5	114,721,123 (GRCm38)	nonsense	probably null
R9311:Tchp	UTSW	5	114,708,816 (GRCm38)	missense	probably benign	0.02
R9436:Tchp	UTSW	5	114,709,385 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTGCTGGGGAGAAGTACTGTAC -3'
(R):5'- TTCCGGACTAGGGTAGTTACC -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- GGTAGTTACCAGCTTCCTCTG -3'

Posted On

2018-11-28