Mutagenetix > Incidental Mutation

Incidental Mutation 'R2292:Tchh'

245021

Institutional Source

Beutler Lab

Gene Symbol

Tchh

Ensembl Gene

ENSMUSG00000052415

Gene Name

trichohyalin

Synonyms

AHF, Thh

MMRRC Submission

040291-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R2292 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93349637-93356384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93349689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 18 (Y18C)

Ref Sequence

ENSEMBL: ENSMUSP00000069525 (fasta)

Gene Model

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

AlphaFold

A0A0B4J1F9

Predicted Effect

probably damaging
Transcript: ENSMUST00000064257
AA Change: Y18C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069525
Gene: ENSMUSG00000052415
AA Change: Y18C

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

Meta Mutation Damage Score

0.5285

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,562,483 (GRCm39)	I370T	probably benign	Het
A2m	A	G	6: 121,650,518 (GRCm39)	T1209A	possibly damaging	Het
Als2	T	C	1: 59,226,544 (GRCm39)	Q920R	probably damaging	Het
Arhgap20	T	A	9: 51,760,743 (GRCm39)	Y829N	possibly damaging	Het
Arhgap35	A	T	7: 16,297,476 (GRCm39)	F530I	probably damaging	Het
Arid4a	G	T	12: 71,108,315 (GRCm39)	G40V	probably damaging	Het
Ascc2	T	C	11: 4,629,352 (GRCm39)		probably benign	Het
Cacna1b	C	T	2: 24,496,632 (GRCm39)	V2312I	probably benign	Het
Dctn6	T	C	8: 34,559,679 (GRCm39)	T159A	probably benign	Het
Ddx55	G	T	5: 124,706,140 (GRCm39)	A522S	probably benign	Het
Dnah6	G	A	6: 72,998,092 (GRCm39)	T4110I	probably damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Dym	A	G	18: 75,332,283 (GRCm39)	T504A	possibly damaging	Het
E130308A19Rik	T	C	4: 59,690,579 (GRCm39)	Y138H	probably damaging	Het
Fgd4	A	T	16: 16,253,864 (GRCm39)	C568S	possibly damaging	Het
Fkbp4	A	C	6: 128,413,625 (GRCm39)	V6G	probably damaging	Het
Flg2	A	T	3: 93,127,984 (GRCm39)	S2299C	unknown	Het
Gdf2	A	T	14: 33,667,145 (GRCm39)	N289I	possibly damaging	Het
Gpr182	A	G	10: 127,586,051 (GRCm39)	I300T	possibly damaging	Het
Iqcg	A	G	16: 32,870,253 (GRCm39)	V80A	probably benign	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lyst	T	G	13: 13,915,080 (GRCm39)	F3258C	probably damaging	Het
Map3k12	T	C	15: 102,408,574 (GRCm39)	E870G	probably damaging	Het
Mphosph10	G	A	7: 64,035,519 (GRCm39)	P384L	probably damaging	Het
Ncoa4	T	G	14: 31,895,413 (GRCm39)	L179R	probably damaging	Het
Nlrp1c-ps	A	G	11: 71,137,188 (GRCm39)		noncoding transcript	Het
Nwd2	A	T	5: 63,962,917 (GRCm39)	M834L	probably benign	Het
Or10a49	A	T	7: 108,468,223 (GRCm39)	M46K	probably benign	Het
Or2w6	A	G	13: 21,843,001 (GRCm39)	M164T	probably damaging	Het
Pccb	T	C	9: 100,876,685 (GRCm39)	E266G	probably benign	Het
Pcdhb2	T	A	18: 37,430,297 (GRCm39)		probably null	Het
Pramel25	T	C	4: 143,520,446 (GRCm39)	I66T	probably benign	Het
Prdm13	A	C	4: 21,683,914 (GRCm39)	I119S	unknown	Het
Tmem192	T	C	8: 65,411,998 (GRCm39)	V59A	probably damaging	Het
Trak2	A	T	1: 58,974,916 (GRCm39)	F92Y	probably damaging	Het
Trappc11	C	T	8: 47,958,771 (GRCm39)	G40D	probably damaging	Het
Ttc23	A	T	7: 67,319,535 (GRCm39)	I132F	probably benign	Het
Ttc9b	A	G	7: 27,355,405 (GRCm39)	D225G	probably benign	Het
Ubr3	G	T	2: 69,727,604 (GRCm39)		probably benign	Het
Vmn2r75	A	C	7: 85,798,144 (GRCm39)	C556W	probably damaging	Het
Zbtb41	T	C	1: 139,368,097 (GRCm39)	V595A	probably 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
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

Predicted Primers

PCR Primer
(F):5'- CACTGATGGACAATGAAAAGTTGAC -3'
(R):5'- GGCATCATCAGTGGTAATGCC -3'

Sequencing Primer
(F):5'- AGTATGAAGGTGATTTCTTGGTTTAG -3'
(R):5'- GGCTCAAAAATGAATGTAGCCCTGTC -3'

Posted On

2014-10-30