Mutagenetix > Incidental Mutation

Incidental Mutation 'R9553:Tchh'

720595

Institutional Source

Beutler Lab

Gene Symbol

Tchh

Ensembl Gene

ENSMUSG00000052415

Gene Name

trichohyalin

Synonyms

AHF, Thh

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9553 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93349637-93356384 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 93355125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1522 (Q1522*)

Ref Sequence

ENSEMBL: ENSMUSP00000069525 (fasta)

Gene Model

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

AlphaFold

A0A0B4J1F9

Predicted Effect

probably null
Transcript: ENSMUST00000064257
AA Change: Q1522*

SMART Domains

Protein: ENSMUSP00000069525
Gene: ENSMUSG00000052415
AA Change: Q1522*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	C	T	7: 43,900,334 (GRCm39)	R80W	probably damaging	Het
Ankdd1b	G	T	13: 96,591,294 (GRCm39)	N68K	possibly damaging	Het
Arhgef1	A	G	7: 24,619,115 (GRCm39)	E452G	probably damaging	Het
Cbx8	T	G	11: 118,930,964 (GRCm39)	E45D	probably damaging	Het
Ceacam15	T	C	7: 16,407,316 (GRCm39)	Y67C	probably damaging	Het
Ceacam20	A	G	7: 19,723,926 (GRCm39)	Y570C	probably damaging	Het
Cnga4	A	G	7: 105,054,977 (GRCm39)	Y187C	probably damaging	Het
Cntrob	T	C	11: 69,205,679 (GRCm39)	N385S	probably benign	Het
Coro7	A	G	16: 4,486,624 (GRCm39)	V183A	possibly damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dnah7b	A	G	1: 46,264,956 (GRCm39)	Y2150C	probably damaging	Het
E2f8	A	G	7: 48,528,394 (GRCm39)	S25P	probably damaging	Het
Eif1ad7	A	G	12: 88,238,476 (GRCm39)	Y95H	probably damaging	Het
Eif3d	T	C	15: 77,843,837 (GRCm39)	E503G	probably damaging	Het
Elp6	T	A	9: 110,144,965 (GRCm39)	V157D	probably damaging	Het
Entpd3	T	C	9: 120,387,546 (GRCm39)	Y248H	probably damaging	Het
Fam186a	T	C	15: 99,844,561 (GRCm39)	E561G	unknown	Het
Fbxl13	C	T	5: 21,728,151 (GRCm39)	G519S	probably damaging	Het
Fgfr4	T	G	13: 55,309,228 (GRCm39)	S422A	probably damaging	Het
Flg2	G	A	3: 93,121,901 (GRCm39)	C1357Y	unknown	Het
Fpr3	T	A	17: 18,191,612 (GRCm39)	N294K	probably damaging	Het
Gas6	T	C	8: 13,525,048 (GRCm39)	Q312R	possibly damaging	Het
Glg1	C	T	8: 111,926,770 (GRCm39)	E182K	probably benign	Het
Gucy1b1	T	C	3: 81,947,087 (GRCm39)	D374G	probably damaging	Het
Ifrd2	C	T	9: 107,468,285 (GRCm39)	T251I	possibly damaging	Het
Igkv4-91	C	T	6: 68,745,632 (GRCm39)	G89R	possibly damaging	Het
Kcnk1	C	A	8: 126,756,322 (GRCm39)	Y281*	probably null	Het
Kcp	G	T	6: 29,485,100 (GRCm39)	F1217L	probably null	Het
Lama3	G	A	18: 12,563,019 (GRCm39)	G514D	probably damaging	Het
Madd	A	G	2: 91,008,800 (GRCm39)	L34P	probably damaging	Het
Mak	T	A	13: 41,183,595 (GRCm39)	T562S	probably benign	Het
Nfatc4	A	G	14: 56,070,259 (GRCm39)	E879G	probably damaging	Het
Or5w14	A	T	2: 87,541,992 (GRCm39)	V86E	probably benign	Het
Pcdhb19	C	T	18: 37,631,848 (GRCm39)	R548C	probably damaging	Het
Peli2	A	G	14: 48,488,150 (GRCm39)	I165V	probably damaging	Het
Plekhd1	A	T	12: 80,753,977 (GRCm39)	M148L	probably benign	Het
Rars2	G	A	4: 34,637,014 (GRCm39)	G172R	probably damaging	Het
Reck	T	C	4: 43,928,310 (GRCm39)	V537A	probably damaging	Het
Rnf135	T	A	11: 80,074,758 (GRCm39)	S6T	probably benign	Het
Sirpb1a	C	T	3: 15,476,320 (GRCm39)	C226Y	probably damaging	Het
Speg	A	C	1: 75,394,645 (GRCm39)	I1785L	probably benign	Het
Spry4	T	C	18: 38,723,070 (GRCm39)	N231S	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Trav7d-3	G	T	14: 52,981,820 (GRCm39)		probably benign	Het
Vmn2r49	A	C	7: 9,720,849 (GRCm39)	V214G	probably benign	Het
Vmn2r80	T	C	10: 78,984,743 (GRCm39)	Y32H	probably benign	Het
Vwf	A	C	6: 125,577,662 (GRCm39)	D501A		Het
Zfp428	A	G	7: 24,214,866 (GRCm39)	T161A	possibly damaging	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	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
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
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'- ACAACAGAAGATTCCGCGAG -3'
(R):5'- ACTGGGACATTGGCAAACTG -3'

Sequencing Primer
(F):5'- GCAGCAGCTTCGCCAAGAG -3'
(R):5'- GGCAAACTGGCGTGTACC -3'

Posted On

2022-08-09