Mutagenetix > Incidental Mutation

Incidental Mutation 'R2995:Tchh'

257166

Institutional Source

Beutler Lab

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 #

R2995 (G1)

Quality Score

180

Status

Not validated

Chromosome

Chromosomal Location

93349637-93356384 bp(+) (GRCm39)

Type of Mutation

small deletion (3 aa in frame mutation)

DNA Base Change (assembly)

CACGCGAGGAACGCGAGGAAC to CACGCGAGGAAC at 93355057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000069525 (fasta)

Gene Model

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

AlphaFold

A0A0B4J1F9

Predicted Effect

probably benign
Transcript: ENSMUST00000064257

SMART Domains

Protein: ENSMUSP00000069525
Gene: ENSMUSG00000052415

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,148,792 (GRCm39)	C43R	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Clpb	T	A	7: 101,428,531 (GRCm39)	H430Q	probably damaging	Het
Eloa	G	T	4: 135,738,217 (GRCm39)	H248N	probably benign	Het
Gpsm1	G	A	2: 26,209,843 (GRCm39)		probably benign	Het
Lhfpl2	A	G	13: 94,310,966 (GRCm39)	T79A	probably benign	Het
Prkaa2	T	C	4: 104,909,204 (GRCm39)	Y80C	probably damaging	Het
Slc4a3	T	A	1: 75,529,306 (GRCm39)	C541*	probably null	Het
Slc4a4	A	T	5: 89,082,673 (GRCm39)	E22V	probably damaging	Het
Stard5	T	C	7: 83,281,951 (GRCm39)	V36A	probably damaging	Het
Trpc6	G	T	9: 8,544,467 (GRCm39)	G12V	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GCGTGACAACAGAAGATTCC -3'
(R):5'- TGGGACATTGGCAAACTGG -3'

Sequencing Primer
(F):5'- TGACAACAGAAGATTCCGCGAG -3'
(R):5'- GTACCAGGCTCCAGGATTTG -3'

Posted On

2015-01-11