Mutagenetix > Incidental Mutation

Incidental Mutation 'R5578:Tchh'

437289

Institutional Source

Beutler Lab

Gene Symbol

Tchh

Ensembl Gene

ENSMUSG00000052415

Gene Name

trichohyalin

Synonyms

AHF, Thh

MMRRC Submission

043133-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5578 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

93349637-93356384 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 93351618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 353 (R353*)

Ref Sequence

ENSEMBL: ENSMUSP00000069525 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064257]

AlphaFold

A0A0B4J1F9

Predicted Effect

probably null
Transcript: ENSMUST00000064257
AA Change: R353*

SMART Domains

Protein: ENSMUSP00000069525
Gene: ENSMUSG00000052415
AA Change: R353*

Domain	Start	End	E-Value	Type
Pfam:S_100	4	46	3.5e-15	PFAM
Blast:EFh	53	81	4e-9	BLAST
low complexity region	110	123	N/A	INTRINSIC
coiled coil region	137	370	N/A	INTRINSIC
internal_repeat_2	374	384	2.35e-6	PROSPERO
internal_repeat_1	382	400	4.53e-15	PROSPERO
low complexity region	403	431	N/A	INTRINSIC
internal_repeat_2	432	442	2.35e-6	PROSPERO
low complexity region	443	469	N/A	INTRINSIC
low complexity region	480	494	N/A	INTRINSIC
low complexity region	497	511	N/A	INTRINSIC
coiled coil region	516	625	N/A	INTRINSIC
internal_repeat_1	627	645	4.53e-15	PROSPERO
coiled coil region	661	700	N/A	INTRINSIC
low complexity region	717	734	N/A	INTRINSIC
coiled coil region	738	821	N/A	INTRINSIC
low complexity region	827	844	N/A	INTRINSIC
low complexity region	847	864	N/A	INTRINSIC
low complexity region	867	905	N/A	INTRINSIC
coiled coil region	927	1049	N/A	INTRINSIC
coiled coil region	1073	1263	N/A	INTRINSIC
coiled coil region	1295	1570	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195137

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,926,932 (GRCm39)	S521P	probably benign	Het
Aqp11	A	G	7: 97,386,665 (GRCm39)	F177S	probably damaging	Het
Arhgap40	G	T	2: 158,373,126 (GRCm39)	G128V	probably damaging	Het
Aspm	A	T	1: 139,398,455 (GRCm39)	K1011I	probably damaging	Het
Cachd1	A	G	4: 100,722,203 (GRCm39)	T89A	probably benign	Het
Cep89	ACTCCTCCTCCTCCTCCTCCTCCTC	ACTCCTCCTCCTCCTCCTCCTC	7: 35,109,067 (GRCm39)		probably benign	Het
Cfhr2	A	T	1: 139,758,806 (GRCm39)	C81*	probably null	Het
Chd7	A	G	4: 8,847,149 (GRCm39)	T1631A	probably benign	Het
Clca4b	T	A	3: 144,638,196 (GRCm39)	D22V	probably benign	Het
Csnk2a1-ps3	A	G	1: 156,352,800 (GRCm39)	M334V	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp39a1	T	A	17: 43,991,031 (GRCm39)	N113K	possibly damaging	Het
Dnah11	A	T	12: 117,982,537 (GRCm39)	V2544D	probably damaging	Het
Dnai3	A	T	3: 145,802,983 (GRCm39)	Y69*	probably null	Het
Esr1	A	C	10: 4,919,164 (GRCm39)	Q418P	probably damaging	Het
Fam89a	T	A	8: 125,467,968 (GRCm39)	K115*	probably null	Het
Fstl4	T	A	11: 53,056,608 (GRCm39)	V455D	probably damaging	Het
Gm20730	T	A	6: 43,058,474 (GRCm39)	M113L	probably benign	Het
H2ac21	T	C	3: 96,127,554 (GRCm39)	V108A	probably damaging	Het
Hk3	C	T	13: 55,159,994 (GRCm39)	V327M	probably damaging	Het
Itm2c	T	A	1: 85,830,774 (GRCm39)	V57E	possibly damaging	Het
Lrba	T	C	3: 86,664,814 (GRCm39)	Y565H	probably benign	Het
Mab21l1	C	T	3: 55,691,435 (GRCm39)	Q341*	probably null	Het
Mdm2	C	T	10: 117,538,192 (GRCm39)	E69K	possibly damaging	Het
Mdn1	A	T	4: 32,728,167 (GRCm39)	I2709F	probably benign	Het
Mpp7	T	C	18: 7,355,101 (GRCm39)	N442D	probably benign	Het
Ncoa3	A	G	2: 165,896,248 (GRCm39)	I384V	probably benign	Het
Pm20d1	A	G	1: 131,743,760 (GRCm39)	N475S	probably benign	Het
Rhpn2	A	G	7: 35,070,135 (GRCm39)	D131G	probably damaging	Het
S1pr5	T	A	9: 21,155,847 (GRCm39)	Y193F	probably damaging	Het
Sdk1	A	T	5: 141,598,880 (GRCm39)	K182*	probably null	Het
Slx4	T	A	16: 3,804,726 (GRCm39)	E696V	probably damaging	Het
Smyd4	C	T	11: 75,295,602 (GRCm39)	P753S	probably benign	Het
Stambp	T	G	6: 83,538,782 (GRCm39)	D206A	probably benign	Het
Sult5a1	G	T	8: 123,869,860 (GRCm39)	Y262*	probably null	Het
Taar1	A	T	10: 23,796,718 (GRCm39)	I139F	possibly damaging	Het
Thnsl2	C	T	6: 71,115,749 (GRCm39)	V153I	probably benign	Het
Trmt5	C	T	12: 73,331,837 (GRCm39)		probably null	Het
Trpa1	T	A	1: 14,957,232 (GRCm39)	Y728F	probably damaging	Het
Usp19	T	C	9: 108,370,639 (GRCm39)	V126A	probably benign	Het
Vcan	A	G	13: 89,839,622 (GRCm39)	V1974A	probably benign	Het
Vmn2r120	T	A	17: 57,829,514 (GRCm39)	H461L	probably benign	Het
Zfp445	T	C	9: 122,682,402 (GRCm39)	Y513C	probably benign	Het
Zfp84	A	C	7: 29,474,856 (GRCm39)	M43L	possibly damaging	Het

Other mutations in Tchh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Tchh	APN	3	93,352,606 (GRCm39)	missense	unknown
IGL00338:Tchh	APN	3	93,354,951 (GRCm39)	missense	unknown
IGL00541:Tchh	APN	3	93,353,557 (GRCm39)	missense	unknown
IGL02510:Tchh	APN	3	93,351,385 (GRCm39)	missense	unknown
IGL02622:Tchh	APN	3	93,350,719 (GRCm39)	missense	probably damaging	1.00
IGL03164:Tchh	APN	3	93,352,699 (GRCm39)	missense	unknown
IGL03331:Tchh	APN	3	93,350,725 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Tchh	UTSW	3	93,353,187 (GRCm39)	missense	unknown
R0334:Tchh	UTSW	3	93,352,923 (GRCm39)	missense	unknown
R0603:Tchh	UTSW	3	93,351,088 (GRCm39)	missense	possibly damaging	0.91
R1186:Tchh	UTSW	3	93,355,353 (GRCm39)	missense	unknown
R1241:Tchh	UTSW	3	93,352,279 (GRCm39)	missense	unknown
R1610:Tchh	UTSW	3	93,352,146 (GRCm39)	missense	unknown
R1768:Tchh	UTSW	3	93,350,882 (GRCm39)	missense	possibly damaging	0.68
R1843:Tchh	UTSW	3	93,354,087 (GRCm39)	missense	unknown
R1866:Tchh	UTSW	3	93,355,067 (GRCm39)	missense	unknown
R1978:Tchh	UTSW	3	93,354,106 (GRCm39)	missense	unknown
R2008:Tchh	UTSW	3	93,353,281 (GRCm39)	missense	unknown
R2011:Tchh	UTSW	3	93,354,268 (GRCm39)	missense	unknown
R2087:Tchh	UTSW	3	93,351,225 (GRCm39)	missense	unknown
R2177:Tchh	UTSW	3	93,351,439 (GRCm39)	missense	unknown
R2292:Tchh	UTSW	3	93,349,689 (GRCm39)	missense	probably damaging	1.00
R2418:Tchh	UTSW	3	93,352,936 (GRCm39)	missense	unknown
R2877:Tchh	UTSW	3	93,351,535 (GRCm39)	missense	unknown
R2995:Tchh	UTSW	3	93,355,057 (GRCm39)	small deletion	probably benign
R2997:Tchh	UTSW	3	93,355,057 (GRCm39)	small deletion	probably benign
R3439:Tchh	UTSW	3	93,354,700 (GRCm39)	missense	unknown
R3440:Tchh	UTSW	3	93,352,414 (GRCm39)	missense	unknown
R3441:Tchh	UTSW	3	93,352,414 (GRCm39)	missense	unknown
R4063:Tchh	UTSW	3	93,354,298 (GRCm39)	missense	unknown
R4550:Tchh	UTSW	3	93,352,617 (GRCm39)	missense	unknown
R4720:Tchh	UTSW	3	93,355,189 (GRCm39)	missense	unknown
R4836:Tchh	UTSW	3	93,354,895 (GRCm39)	missense	unknown
R4836:Tchh	UTSW	3	93,352,455 (GRCm39)	missense	unknown
R4880:Tchh	UTSW	3	93,351,130 (GRCm39)	missense	possibly damaging	0.85
R4895:Tchh	UTSW	3	93,352,993 (GRCm39)	missense	unknown
R5188:Tchh	UTSW	3	93,353,986 (GRCm39)	missense	unknown
R5404:Tchh	UTSW	3	93,354,982 (GRCm39)	missense	unknown
R5435:Tchh	UTSW	3	93,350,979 (GRCm39)	missense	possibly damaging	0.53
R5678:Tchh	UTSW	3	93,352,933 (GRCm39)	missense	unknown
R5697:Tchh	UTSW	3	93,352,350 (GRCm39)	nonsense	probably null
R5768:Tchh	UTSW	3	93,353,488 (GRCm39)	missense	unknown
R5809:Tchh	UTSW	3	93,352,880 (GRCm39)	missense	unknown
R5934:Tchh	UTSW	3	93,351,419 (GRCm39)	missense	unknown
R5945:Tchh	UTSW	3	93,352,644 (GRCm39)	missense	unknown
R6313:Tchh	UTSW	3	93,355,158 (GRCm39)	missense	unknown
R6329:Tchh	UTSW	3	93,353,752 (GRCm39)	missense	unknown
R6397:Tchh	UTSW	3	93,353,173 (GRCm39)	missense	unknown
R6818:Tchh	UTSW	3	93,350,718 (GRCm39)	missense	probably damaging	1.00
R6997:Tchh	UTSW	3	93,354,015 (GRCm39)	small deletion	probably benign
R7174:Tchh	UTSW	3	93,353,478 (GRCm39)	missense	unknown
R7268:Tchh	UTSW	3	93,354,015 (GRCm39)	small deletion	probably benign
R7270:Tchh	UTSW	3	93,351,837 (GRCm39)	missense	unknown
R7449:Tchh	UTSW	3	93,354,015 (GRCm39)	small deletion	probably benign
R7745:Tchh	UTSW	3	93,352,084 (GRCm39)	missense	unknown
R8201:Tchh	UTSW	3	93,350,781 (GRCm39)	missense	probably damaging	0.98
R8375:Tchh	UTSW	3	93,354,015 (GRCm39)	small deletion	probably benign
R8438:Tchh	UTSW	3	93,354,015 (GRCm39)	small deletion	probably benign
R8676:Tchh	UTSW	3	93,354,015 (GRCm39)	small deletion	probably benign
R8801:Tchh	UTSW	3	93,354,015 (GRCm39)	small deletion	probably benign
R8893:Tchh	UTSW	3	93,354,957 (GRCm39)	nonsense	probably null
R9104:Tchh	UTSW	3	93,354,610 (GRCm39)	missense	unknown
R9318:Tchh	UTSW	3	93,354,051 (GRCm39)	missense	unknown
R9328:Tchh	UTSW	3	93,351,570 (GRCm39)	missense	unknown
R9386:Tchh	UTSW	3	93,354,346 (GRCm39)	missense	unknown
R9499:Tchh	UTSW	3	93,354,015 (GRCm39)	small deletion	probably benign
R9553:Tchh	UTSW	3	93,355,125 (GRCm39)	nonsense	probably null
R9644:Tchh	UTSW	3	93,354,666 (GRCm39)	missense	unknown
Z1088:Tchh	UTSW	3	93,352,989 (GRCm39)	nonsense	probably null
Z1176:Tchh	UTSW	3	93,354,166 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TAAGGCGCGATCTGGAGTTG -3'
(R):5'- CTGTTCTTCATCTAGGAGGCTG -3'

Sequencing Primer
(F):5'- TCTGGAGTTGAGGCGCGAAC -3'
(R):5'- AGCTTCTCCTCCCGGAAG -3'

Posted On

2016-10-26