Mutagenetix > Incidental Mutation

Incidental Mutation 'R6397:Tchh'

516029

Institutional Source

Beutler Lab

Gene Symbol

Tchh

Ensembl Gene

ENSMUSG00000052415

Gene Name

trichohyalin

Synonyms

AHF, Thh

MMRRC Submission

044545-MU

Accession Numbers

Essential gene?

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

Stock #

R6397 (G1)

Quality Score

187.009

Status

Not validated

Chromosome

Chromosomal Location

93349637-93356384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93353173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 871 (E871G)

Ref Sequence

ENSEMBL: ENSMUSP00000069525 (fasta)

Gene Model

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

AlphaFold

A0A0B4J1F9

Predicted Effect

unknown
Transcript: ENSMUST00000064257
AA Change: E871G

SMART Domains

Protein: ENSMUSP00000069525
Gene: ENSMUSG00000052415
AA Change: E871G

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

Validation Efficiency

94% (29/31)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef3	G	T	10: 18,483,413 (GRCm39)	S1437*	probably null	Het
Cdh1	T	C	8: 107,330,922 (GRCm39)	S18P	possibly damaging	Het
Dipk1a	T	A	5: 108,059,504 (GRCm39)	K105*	probably null	Het
Dmbt1	T	C	7: 130,705,308 (GRCm39)	V1137A	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Gm3486	G	A	14: 41,208,343 (GRCm39)	L123F	probably benign	Het
Ifi203	C	A	1: 173,754,770 (GRCm39)	V654L	probably benign	Het
Kalrn	A	G	16: 33,813,355 (GRCm39)	L787P	probably damaging	Het
Kazald1	A	G	19: 45,065,317 (GRCm39)	E66G	probably benign	Het
Map4	T	A	9: 109,856,784 (GRCm39)	D151E	possibly damaging	Het
Msrb3	G	A	10: 120,627,356 (GRCm39)	T42I	probably damaging	Het
Nfatc1	C	T	18: 80,679,156 (GRCm39)	C744Y	probably damaging	Het
Nlgn1	T	A	3: 25,487,827 (GRCm39)	H836L	possibly damaging	Het
Nrxn2	A	G	19: 6,582,152 (GRCm39)	N653D	probably damaging	Het
Oprk1	A	G	1: 5,668,971 (GRCm39)	Y139C	probably damaging	Het
Or2ab1	A	G	11: 58,488,338 (GRCm39)	T39A	probably benign	Het
Pcdhb5	T	A	18: 37,454,558 (GRCm39)	S313T	probably benign	Het
Pcdhb8	C	T	18: 37,488,516 (GRCm39)	R65*	probably null	Het
Phf8-ps	T	C	17: 33,285,219 (GRCm39)	N528D	probably benign	Het
Pstpip2	T	G	18: 77,961,079 (GRCm39)	C221G	probably benign	Het
Sall2	T	A	14: 52,552,610 (GRCm39)	H195L	probably damaging	Het
Snx7	A	G	3: 117,640,272 (GRCm39)	I79T	probably benign	Het
Sptbn2	A	T	19: 4,792,446 (GRCm39)	E1367V	possibly damaging	Het
Stau1	A	G	2: 166,792,927 (GRCm39)	V346A	possibly damaging	Het
Tlr9	A	G	9: 106,102,305 (GRCm39)	N532S	probably damaging	Het
Tuba1c	G	A	15: 98,935,738 (GRCm39)	A400T	probably benign	Het
Vmn2r86	A	T	10: 130,282,131 (GRCm39)	Y828*	probably null	Het
Vps45	A	G	3: 95,950,164 (GRCm39)	I255T	probably benign	Het
Yap1	T	C	9: 8,001,467 (GRCm39)	Y173C	probably damaging	Het
Zc3h7b	A	T	15: 81,677,055 (GRCm39)	I821F	probably benign	Het
Zftraf1	A	T	15: 76,532,391 (GRCm39)	I239N	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
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
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'- ATCTCGTGAACAAGAGCGC -3'
(R):5'- AATGATCTGTCCCGCAGCTG -3'

Sequencing Primer
(F):5'- AGAACGCCACCTGGAACGTG -3'
(R):5'- CCAGGCGGCGTTCTTGTTC -3'

Posted On

2018-05-04