Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00155:Tchh'

1774

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tchh

Ensembl Gene

ENSMUSG00000052415

Gene Name

trichohyalin

Synonyms

AHF, Thh

Accession Numbers

Essential gene?

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

Stock #

IGL00155

Quality Score

Status

Chromosome

Chromosomal Location

93349637-93356384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93352606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 682 (E682G)

Ref Sequence

ENSEMBL: ENSMUSP00000069525 (fasta)

Gene Model

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

AlphaFold

A0A0B4J1F9

Predicted Effect

unknown
Transcript: ENSMUST00000064257
AA Change: E682G

SMART Domains

Protein: ENSMUSP00000069525
Gene: ENSMUSG00000052415
AA Change: E682G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,590,235 (GRCm39)	F498S	probably damaging	Het
Arhgap11a	A	G	2: 113,664,601 (GRCm39)	S561P	probably benign	Het
Best3	T	C	10: 116,824,632 (GRCm39)	Y33H	probably damaging	Het
Cd209b	T	A	8: 3,969,945 (GRCm39)		probably benign	Het
Cep152	A	G	2: 125,405,808 (GRCm39)	S1575P	probably benign	Het
Crabp2	A	G	3: 87,859,506 (GRCm39)	Y52C	probably damaging	Het
Crybg1	T	C	10: 43,868,505 (GRCm39)	D1017G	probably damaging	Het
Ctnna2	A	T	6: 76,957,744 (GRCm39)	W137R	probably damaging	Het
Cxcl9	T	A	5: 92,471,728 (GRCm39)	H104L	possibly damaging	Het
Ddr2	A	G	1: 169,811,996 (GRCm39)	I742T	possibly damaging	Het
Frem1	A	G	4: 82,877,626 (GRCm39)	V223A	possibly damaging	Het
Fzd10	T	A	5: 128,678,592 (GRCm39)	I104N	probably damaging	Het
Greb1	A	G	12: 16,761,962 (GRCm39)	S473P	probably damaging	Het
Gtf2i	T	C	5: 134,271,602 (GRCm39)	Y873C	probably damaging	Het
Igsf6	T	A	7: 120,669,876 (GRCm39)	K89*	probably null	Het
Ints3	A	G	3: 90,313,636 (GRCm39)	F331L	probably damaging	Het
Kcnh3	A	T	15: 99,140,354 (GRCm39)	H1080L	possibly damaging	Het
Mettl15	A	T	2: 108,923,521 (GRCm39)	Y300*	probably null	Het
Mms19	A	G	19: 41,936,672 (GRCm39)	F654L	probably benign	Het
Myc	A	G	15: 61,861,669 (GRCm39)	H425R	probably benign	Het
Ntn1	G	T	11: 68,117,445 (GRCm39)		probably benign	Het
Ormdl2	C	A	10: 128,655,944 (GRCm39)	G69W	probably damaging	Het
Pdpr	T	C	8: 111,828,704 (GRCm39)	V69A	possibly damaging	Het
Rbbp6	T	C	7: 122,587,908 (GRCm39)	I254T	probably damaging	Het
Sema6d	A	G	2: 124,501,785 (GRCm39)	R543G	possibly damaging	Het
Slc18a1	C	T	8: 69,503,998 (GRCm39)	A314T	probably damaging	Het
Slc22a26	A	G	19: 7,760,201 (GRCm39)	L514P	probably damaging	Het
Slc22a28	A	C	19: 8,107,567 (GRCm39)	S167A	possibly damaging	Het
Speer1m	A	G	5: 11,971,377 (GRCm39)	S110G	possibly damaging	Het
Thbs2	A	T	17: 14,889,097 (GRCm39)	M1134K	probably damaging	Het
Tmem26	A	G	10: 68,611,184 (GRCm39)	S218G	probably damaging	Het
Tmprss11c	A	T	5: 86,387,254 (GRCm39)	S208R	probably benign	Het
Tnfrsf8	T	C	4: 145,019,161 (GRCm39)		probably null	Het
Ush2a	T	C	1: 188,596,875 (GRCm39)	S3872P	probably benign	Het
Vmn1r69	T	C	7: 10,313,879 (GRCm39)	N205S	probably benign	Het
Vmn2r54	T	A	7: 12,365,840 (GRCm39)		probably benign	Het
Wwtr1	A	T	3: 57,370,942 (GRCm39)	M328K	possibly damaging	Het
Zfp64	G	A	2: 168,768,601 (GRCm39)	S337L	probably benign	Het

Other mutations in Tchh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5578:Tchh	UTSW	3	93,351,618 (GRCm39)	nonsense	probably null
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

Posted On

2011-07-12