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

114845821-114860388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114847411 bp (GRCm39)

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
Abcc5	T	A	16: 20,218,759 (GRCm39)	T208S	probably benign	Het
Acaa2	A	G	18: 74,926,380 (GRCm39)	E112G	probably benign	Het
Adgrb1	A	G	15: 74,421,873 (GRCm39)	N881S	probably damaging	Het
Adgre1	A	G	17: 57,717,844 (GRCm39)	E314G	probably benign	Het
Adgre1	A	G	17: 57,727,399 (GRCm39)	E443G	probably benign	Het
Akp3	A	G	1: 87,053,353 (GRCm39)	Y102C	probably damaging	Het
Birc6	A	G	17: 74,886,526 (GRCm39)	N618S	probably benign	Het
Bpifc	A	G	10: 85,815,078 (GRCm39)	V296A	probably benign	Het
Cacna2d3	G	A	14: 28,691,275 (GRCm39)		probably benign	Het
Cacnb4	T	C	2: 52,364,966 (GRCm39)	N99S	probably damaging	Het
Cd38	A	G	5: 44,065,348 (GRCm39)	Y283C	probably damaging	Het
Celf4	T	A	18: 25,629,293 (GRCm39)	Q411L	probably damaging	Het
Cemip	A	T	7: 83,647,755 (GRCm39)	H108Q	probably damaging	Het
Col23a1	A	G	11: 51,452,720 (GRCm39)	E225G	unknown	Het
Dnah11	T	C	12: 118,024,045 (GRCm39)	E1902G	probably damaging	Het
Dst	A	G	1: 34,229,571 (GRCm39)	D2063G	probably damaging	Het
Fsip2	A	T	2: 82,823,184 (GRCm39)	I6306L	probably benign	Het
Furin	A	G	7: 80,040,838 (GRCm39)	S667P	possibly damaging	Het
Glmp	T	A	3: 88,233,139 (GRCm39)	S92R	probably benign	Het
Gm11563	C	G	11: 99,549,298 (GRCm39)	C152S	unknown	Het
Gm3486	A	G	14: 41,206,518 (GRCm39)	V185A	probably benign	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
Hyal1	C	A	9: 107,456,369 (GRCm39)	A102E	probably damaging	Het
Invs	T	C	4: 48,421,785 (GRCm39)	C806R	probably benign	Het
L1td1	T	C	4: 98,621,933 (GRCm39)	V165A	probably benign	Het
Lama1	A	G	17: 68,120,861 (GRCm39)	T2666A		Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrc8a	A	G	2: 30,146,239 (GRCm39)	Y351C	probably damaging	Het
Myh7b	T	C	2: 155,464,152 (GRCm39)	F551S	possibly damaging	Het
Myo19	A	G	11: 84,788,386 (GRCm39)	T333A	probably benign	Het
Nrp2	A	T	1: 62,799,947 (GRCm39)	N387I	probably damaging	Het
Oas2	T	C	5: 120,874,204 (GRCm39)	D543G	probably benign	Het
Or2g25	A	G	17: 37,970,405 (GRCm39)	I273T	possibly damaging	Het
Or5al6	A	G	2: 85,976,428 (GRCm39)	S217P	probably damaging	Het
Pak5	A	G	2: 135,942,859 (GRCm39)	V427A	probably benign	Het
Pfas	G	A	11: 68,891,356 (GRCm39)	A247V	probably benign	Het
Pramel52-ps	C	T	5: 94,531,490 (GRCm39)	H125Y	possibly damaging	Het
Psat1	T	A	19: 15,894,545 (GRCm39)	T115S	probably benign	Het
Psme4	T	A	11: 30,787,437 (GRCm39)	D1077E	probably benign	Het
Rabgap1l	A	G	1: 160,509,752 (GRCm39)	S442P	probably benign	Het
Ralgapa1	A	G	12: 55,822,976 (GRCm39)	M280T	possibly damaging	Het
Rb1cc1	A	T	1: 6,331,256 (GRCm39)	E394D	probably damaging	Het
Seh1l	T	C	18: 67,922,460 (GRCm39)	V271A	probably benign	Het
Sf3b1	A	T	1: 55,036,315 (GRCm39)	N919K	probably benign	Het
Sftpd	A	G	14: 40,896,449 (GRCm39)	S245P	possibly damaging	Het
Slc22a15	T	C	3: 101,831,430 (GRCm39)	E2G	probably damaging	Het
Spta1	A	G	1: 174,036,891 (GRCm39)	D1134G	possibly damaging	Het
Syna	A	G	5: 134,587,815 (GRCm39)	V378A	probably damaging	Het
Tescl	T	C	7: 24,032,956 (GRCm39)	N123S	probably benign	Het
Trio	C	T	15: 27,824,176 (GRCm39)	R1443Q	probably damaging	Het
Trrap	A	T	5: 144,727,665 (GRCm39)	Y462F	possibly damaging	Het
Vmn1r78	A	G	7: 11,886,832 (GRCm39)	T148A	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfp1007	A	C	5: 109,824,711 (GRCm39)	N246K	probably benign	Het

Other mutations in Tchp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Tchp	APN	5	114,846,794 (GRCm39)	missense	probably benign	0.00
R0266:Tchp	UTSW	5	114,847,394 (GRCm39)	missense	possibly damaging	0.87
R0454:Tchp	UTSW	5	114,858,243 (GRCm39)	missense	probably benign	0.02
R0709:Tchp	UTSW	5	114,855,514 (GRCm39)	missense	probably damaging	1.00
R0725:Tchp	UTSW	5	114,857,682 (GRCm39)	missense	probably benign	0.04
R2680:Tchp	UTSW	5	114,847,580 (GRCm39)	critical splice donor site	probably null
R4604:Tchp	UTSW	5	114,857,634 (GRCm39)	splice site	probably null
R4956:Tchp	UTSW	5	114,857,681 (GRCm39)	missense	probably damaging	0.99
R6662:Tchp	UTSW	5	114,858,076 (GRCm39)	splice site	probably null
R7002:Tchp	UTSW	5	114,846,857 (GRCm39)	missense	probably benign	0.39
R7288:Tchp	UTSW	5	114,853,630 (GRCm39)	missense	probably damaging	1.00
R7447:Tchp	UTSW	5	114,853,716 (GRCm39)	missense	probably benign	0.00
R8021:Tchp	UTSW	5	114,856,478 (GRCm39)	missense	probably damaging	1.00
R8066:Tchp	UTSW	5	114,847,472 (GRCm39)	missense	probably benign	0.32
R8087:Tchp	UTSW	5	114,857,665 (GRCm39)	missense	probably damaging	1.00
R8403:Tchp	UTSW	5	114,846,827 (GRCm39)	missense	possibly damaging	0.87
R9053:Tchp	UTSW	5	114,853,916 (GRCm39)	missense	probably benign	0.22
R9149:Tchp	UTSW	5	114,859,184 (GRCm39)	nonsense	probably null
R9311:Tchp	UTSW	5	114,846,877 (GRCm39)	missense	probably benign	0.02
R9436:Tchp	UTSW	5	114,847,446 (GRCm39)	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