Mutagenetix > Incidental Mutation

Incidental Mutation 'R8403:Tchp'

652264

Institutional Source

Beutler Lab

Gene Symbol

Tchp

Ensembl Gene

ENSMUSG00000002486

Gene Name

trichoplein, keratin filament binding

Synonyms

A930031F18Rik

MMRRC Submission

067813-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8403 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114845821-114860388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 114846827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 38 (R38L)

Ref Sequence

ENSEMBL: ENSMUSP00000092009 (fasta)

Gene Model

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

AlphaFold

Q3TVW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094441
AA Change: R38L

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000092009
Gene: ENSMUSG00000002486
AA Change: R38L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2b	T	A	11: 62,140,141 (GRCm39)	C72S	probably damaging	Het
Atcay	T	C	10: 81,048,782 (GRCm39)	Y183C	probably damaging	Het
Atp1a1	A	T	3: 101,494,220 (GRCm39)	I460N	probably damaging	Het
Bhmt1b	C	T	18: 87,775,575 (GRCm39)	S366F	probably damaging	Het
Celf4	T	C	18: 25,637,327 (GRCm39)	S223G	possibly damaging	Het
Ces2c	T	A	8: 105,574,714 (GRCm39)	V57D	probably damaging	Het
Ces2f	T	C	8: 105,674,808 (GRCm39)	V70A	possibly damaging	Het
Cntnap1	C	T	11: 101,068,416 (GRCm39)	P114S	probably damaging	Het
Cpsf1	A	G	15: 76,484,483 (GRCm39)	F666S	probably damaging	Het
Cuzd1	T	A	7: 130,913,297 (GRCm39)	D440V	probably damaging	Het
Dhx57	T	C	17: 80,585,718 (GRCm39)	E107G	probably damaging	Het
Dop1a	G	T	9: 86,382,925 (GRCm39)	R286L	probably damaging	Het
Fam135a	G	A	1: 24,067,908 (GRCm39)	T987I	probably benign	Het
Fastkd1	G	T	2: 69,517,425 (GRCm39)	Y818*	probably null	Het
Fer1l4	A	C	2: 155,894,163 (GRCm39)	F47V	possibly damaging	Het
Fryl	A	G	5: 73,275,790 (GRCm39)	*125R	probably null	Het
Herc6	A	G	6: 57,560,191 (GRCm39)	D77G	probably benign	Het
Hmox1	T	C	8: 75,823,959 (GRCm39)	L209P	probably damaging	Het
Kcns3	A	T	12: 11,141,654 (GRCm39)	D348E	probably benign	Het
Lama1	T	A	17: 68,052,918 (GRCm39)	I417N		Het
Lmo7	T	C	14: 102,139,800 (GRCm39)	S1028P	probably benign	Het
Lrrc37a	C	G	11: 103,392,411 (GRCm39)	E1005Q	probably benign	Het
Mis18bp1	A	T	12: 65,201,585 (GRCm39)	I372K	possibly damaging	Het
Nr4a3	A	G	4: 48,051,348 (GRCm39)	D34G	probably damaging	Het
Or4c113	A	T	2: 88,884,948 (GRCm39)	V274D	probably benign	Het
Parp12	T	C	6: 39,068,279 (GRCm39)	D496G	probably benign	Het
Rom1	A	G	19: 8,905,244 (GRCm39)	V282A	probably benign	Het
Rp1l1	G	A	14: 64,266,258 (GRCm39)	V615I	probably benign	Het
Rpgrip1	A	G	14: 52,389,658 (GRCm39)		probably null	Het
Ryr2	A	G	13: 11,699,364 (GRCm39)	I2959T	possibly damaging	Het
Sema4a	T	G	3: 88,359,341 (GRCm39)	K117Q	probably damaging	Het
Slc22a29	A	G	19: 8,139,004 (GRCm39)	M486T	possibly damaging	Het
Sntb2	T	A	8: 107,728,166 (GRCm39)	C371*	probably null	Het
Spata31d1c	A	G	13: 65,184,044 (GRCm39)	T529A	probably benign	Het
Tnpo2	T	C	8: 85,773,926 (GRCm39)	V320A	probably benign	Het
Trim50	A	T	5: 135,392,646 (GRCm39)	D187V	probably damaging	Het
Ttl	A	G	2: 128,923,163 (GRCm39)	E168G	possibly damaging	Het
Tuba1c	T	A	15: 98,931,985 (GRCm39)	I5N	probably damaging	Het
Tyr	C	T	7: 87,087,175 (GRCm39)	G446R	probably damaging	Het
Vps35	C	T	8: 86,001,487 (GRCm39)	V444I	probably benign	Het
Vstm2b	T	C	7: 40,551,899 (GRCm39)	S76P	probably damaging	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
R6945:Tchp	UTSW	5	114,847,411 (GRCm39)	missense	possibly damaging	0.76
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
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'- ACTGTGAGAAAGGTGCAGCC -3'
(R):5'- CACAGTTTCCAGCATCATCAGG -3'

Sequencing Primer
(F):5'- CCAAGGGGCGAGTGACATC -3'
(R):5'- TCCAGCATCATCAGGAGATAATTC -3'

Posted On

2020-10-20