Mutagenetix > Incidental Mutation

Incidental Mutation 'R4836:Tchh'

373223

Institutional Source

Beutler Lab

Gene Symbol

Tchh

Ensembl Gene

ENSMUSG00000052415

Gene Name

trichohyalin

Synonyms

Thh, AHF

MMRRC Submission

042451-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R4836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93442330-93449077 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93447588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1445 (D1445V)

Ref Sequence

ENSEMBL: ENSMUSP00000069525 (fasta)

Gene Model

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

AlphaFold

A0A0B4J1F9

Predicted Effect

unknown
Transcript: ENSMUST00000064257
AA Change: D1445V

SMART Domains

Protein: ENSMUSP00000069525
Gene: ENSMUSG00000052415
AA Change: D1445V

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

0.1161

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

98% (87/89)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	T	C	7: 140,299,108	I1051T	probably benign	Het
Acox1	A	T	11: 116,175,326	S453T	probably benign	Het
AF366264	C	T	8: 13,838,007	S28N	probably benign	Het
Ahnak2	A	T	12: 112,774,116	V368D	probably damaging	Het
Ankrd53	A	T	6: 83,768,152	Y448F	probably damaging	Het
Arhgef15	A	T	11: 68,949,925		probably benign	Het
Atg2b	T	C	12: 105,646,814	N1166S	probably benign	Het
Atl3	C	T	19: 7,509,545	R77*	probably null	Het
Bend6	T	C	1: 33,883,573		probably benign	Het
Ccnt1	C	A	15: 98,567,563	R25L	probably damaging	Het
Cct4	A	G	11: 23,002,898	T525A	probably benign	Het
Cep350	T	C	1: 155,928,833	I835V	probably damaging	Het
Clcn1	G	T	6: 42,309,964	V652L	probably damaging	Het
Cntln	T	A	4: 85,049,720	Y725*	probably null	Het
Cog5	T	C	12: 31,919,733	F21L	probably benign	Het
D6Ertd527e	GGCAGCAGCAGCA	GGCAGCAGCAGCAGCA	6: 87,111,424		probably benign	Het
Dnm2	A	T	9: 21,491,330		probably benign	Het
Dnmt1	C	T	9: 20,908,558	V1430I	probably damaging	Het
Dpep1	A	G	8: 123,200,367	D285G	probably damaging	Het
Eef2kmt	C	T	16: 5,249,003	V129M	probably damaging	Het
Epha3	A	T	16: 63,583,557	M726K	probably damaging	Het
Fat3	A	G	9: 16,377,723	L168P	probably damaging	Het
Frem3	T	A	8: 80,663,397	F1759Y	probably damaging	Het
Fubp3	T	A	2: 31,608,141	S56R	possibly damaging	Het
Gm1965	T	C	6: 89,145,410		noncoding transcript	Het
Gm5592	C	T	7: 41,215,534		probably benign	Het
Hils1	T	A	11: 94,968,017	L46*	probably null	Het
Irs1	TGGGGTGGACATCGAACTGAAGGAG	TG	1: 82,287,732	913	probably null	Het
Isl1	A	G	13: 116,303,083	M243T	probably benign	Het
Itpr1	A	T	6: 108,389,537	I142F	probably damaging	Het
Jak1	T	C	4: 101,155,066	T1069A	probably damaging	Het
Jmjd1c	T	C	10: 67,233,446	V1848A	probably benign	Het
Kdm5a	T	C	6: 120,412,402	V930A	probably damaging	Het
Kdm5b	C	A	1: 134,593,315		probably null	Het
Lexm	T	A	4: 106,610,527		probably null	Het
Lilra5	T	C	7: 4,238,714	F171L	possibly damaging	Het
Map1b	A	G	13: 99,431,054	S1720P	unknown	Het
Mcpt1	A	T	14: 56,019,560	Q185L	probably damaging	Het
Mmp20	T	A	9: 7,644,026	D238E	possibly damaging	Het
Mov10l1	A	T	15: 89,020,269	I784F	possibly damaging	Het
Mroh2b	C	T	15: 4,904,270	P101S	probably damaging	Het
Myh3	G	T	11: 67,096,939	A1413S	probably benign	Het
Nat6	A	T	9: 107,583,539	Y211F	probably damaging	Het
Npdc1	G	A	2: 25,408,945	D284N	probably damaging	Het
Olfr1009	A	G	2: 85,721,449	I15V	probably benign	Het
Olfr1054	A	T	2: 86,333,227	M43K	probably benign	Het
Olfr1056	G	A	2: 86,355,750	L211F	probably benign	Het
Olfr1196	A	G	2: 88,701,200	I43T	probably damaging	Het
Olfr330	A	C	11: 58,529,482	M168R	probably damaging	Het
Olfr533	A	G	7: 140,467,076	R292G	probably damaging	Het
Palld	T	A	8: 61,687,381	T531S	probably benign	Het
Parp4	A	G	14: 56,585,738	E105G	probably benign	Het
Phf11a	A	T	14: 59,287,579	S59T	probably damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Rad50	A	T	11: 53,650,653	I1252N	probably damaging	Het
Ramp3	A	G	11: 6,674,761		probably null	Het
Rrbp1	G	A	2: 143,988,417	T610I	possibly damaging	Het
Slc4a10	A	G	2: 62,268,187	Y555C	probably damaging	Het
Slc5a2	A	G	7: 128,267,505		probably null	Het
Smoc1	T	A	12: 81,179,548	D371E	probably damaging	Het
Stmn1	T	A	4: 134,470,184		probably benign	Het
Sulf1	C	T	1: 12,842,686	L715F	probably benign	Het
Surf1	T	C	2: 26,914,243	T180A	possibly damaging	Het
Syne2	A	G	12: 75,979,819	I3474V	probably damaging	Het
Tctn1	A	T	5: 122,245,505	M505K	probably benign	Het
Tdrkh	T	A	3: 94,425,590	I150N	probably damaging	Het
Tespa1	C	T	10: 130,362,159	T350I	probably benign	Het
Thbs1	A	G	2: 118,115,018	Y326C	possibly damaging	Het
Tmem208	C	T	8: 105,328,664	S119F	probably damaging	Het
Tmprss6	G	C	15: 78,445,388	A91G	probably damaging	Het
Trp53bp2	C	T	1: 182,431,582	R67W	probably damaging	Het
Ttn	A	G	2: 76,711,197	I25488T	possibly damaging	Het
Txnl4a	A	G	18: 80,222,253	E111G	probably damaging	Het
Unc13b	T	G	4: 43,237,137	I3402M	probably damaging	Het
Vmn1r188	A	C	13: 22,088,121	I82L	probably benign	Het
Zfp65	A	G	13: 67,708,875	V95A	probably benign	Het
Zfp985	T	A	4: 147,584,155	S493R	probably damaging	Het

Other mutations in Tchh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Tchh	APN	3	93445299	missense	unknown
IGL00338:Tchh	APN	3	93447644	missense	unknown
IGL00541:Tchh	APN	3	93446250	missense	unknown
IGL02510:Tchh	APN	3	93444078	missense	unknown
IGL02622:Tchh	APN	3	93443412	missense	probably damaging	1.00
IGL03164:Tchh	APN	3	93445392	missense	unknown
IGL03331:Tchh	APN	3	93443418	missense	probably damaging	1.00
PIT4453001:Tchh	UTSW	3	93445880	missense	unknown
R0334:Tchh	UTSW	3	93445616	missense	unknown
R0603:Tchh	UTSW	3	93443781	missense	possibly damaging	0.91
R1186:Tchh	UTSW	3	93448046	missense	unknown
R1241:Tchh	UTSW	3	93444972	missense	unknown
R1610:Tchh	UTSW	3	93444839	missense	unknown
R1768:Tchh	UTSW	3	93443575	missense	possibly damaging	0.68
R1843:Tchh	UTSW	3	93446780	missense	unknown
R1866:Tchh	UTSW	3	93447760	missense	unknown
R1978:Tchh	UTSW	3	93446799	missense	unknown
R2008:Tchh	UTSW	3	93445974	missense	unknown
R2011:Tchh	UTSW	3	93446961	missense	unknown
R2087:Tchh	UTSW	3	93443918	missense	unknown
R2177:Tchh	UTSW	3	93444132	missense	unknown
R2292:Tchh	UTSW	3	93442382	missense	probably damaging	1.00
R2418:Tchh	UTSW	3	93445629	missense	unknown
R2877:Tchh	UTSW	3	93444228	missense	unknown
R2995:Tchh	UTSW	3	93447750	small deletion	probably benign
R2997:Tchh	UTSW	3	93447750	small deletion	probably benign
R3439:Tchh	UTSW	3	93447393	missense	unknown
R3440:Tchh	UTSW	3	93445107	missense	unknown
R3441:Tchh	UTSW	3	93445107	missense	unknown
R4063:Tchh	UTSW	3	93446991	missense	unknown
R4550:Tchh	UTSW	3	93445310	missense	unknown
R4720:Tchh	UTSW	3	93447882	missense	unknown
R4836:Tchh	UTSW	3	93445148	missense	unknown
R4880:Tchh	UTSW	3	93443823	missense	possibly damaging	0.85
R4895:Tchh	UTSW	3	93445686	missense	unknown
R5188:Tchh	UTSW	3	93446679	missense	unknown
R5404:Tchh	UTSW	3	93447675	missense	unknown
R5435:Tchh	UTSW	3	93443672	missense	possibly damaging	0.53
R5578:Tchh	UTSW	3	93444311	nonsense	probably null
R5678:Tchh	UTSW	3	93445626	missense	unknown
R5697:Tchh	UTSW	3	93445043	nonsense	probably null
R5768:Tchh	UTSW	3	93446181	missense	unknown
R5809:Tchh	UTSW	3	93445573	missense	unknown
R5934:Tchh	UTSW	3	93444112	missense	unknown
R5945:Tchh	UTSW	3	93445337	missense	unknown
R6313:Tchh	UTSW	3	93447851	missense	unknown
R6329:Tchh	UTSW	3	93446445	missense	unknown
R6397:Tchh	UTSW	3	93445866	missense	unknown
R6818:Tchh	UTSW	3	93443411	missense	probably damaging	1.00
R6997:Tchh	UTSW	3	93446708	small deletion	probably benign
R7174:Tchh	UTSW	3	93446171	missense	unknown
R7268:Tchh	UTSW	3	93446708	small deletion	probably benign
R7270:Tchh	UTSW	3	93444530	missense	unknown
R7449:Tchh	UTSW	3	93446708	small deletion	probably benign
R7745:Tchh	UTSW	3	93444777	missense	unknown
R8201:Tchh	UTSW	3	93443474	missense	probably damaging	0.98
R8375:Tchh	UTSW	3	93446708	small deletion	probably benign
R8438:Tchh	UTSW	3	93446708	small deletion	probably benign
R8676:Tchh	UTSW	3	93446708	small deletion	probably benign
R8801:Tchh	UTSW	3	93446708	small deletion	probably benign
R8893:Tchh	UTSW	3	93447650	nonsense	probably null
R9104:Tchh	UTSW	3	93447303	missense	unknown
R9318:Tchh	UTSW	3	93446744	missense	unknown
R9328:Tchh	UTSW	3	93444263	missense	unknown
R9386:Tchh	UTSW	3	93447039	missense	unknown
R9499:Tchh	UTSW	3	93446708	small deletion	probably benign
R9553:Tchh	UTSW	3	93447818	nonsense	probably null
R9644:Tchh	UTSW	3	93447359	missense	unknown
Z1088:Tchh	UTSW	3	93445682	nonsense	probably null
Z1176:Tchh	UTSW	3	93446859	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACGCGAGCAACAGTTGAGAC -3'
(R):5'- ATCGTATCCCTGGCAAACTGC -3'

Sequencing Primer
(F):5'- CAACAGTTGAGACAGGAGCGC -3'
(R):5'- AAACTGCTCCTCAGCCAGGTATTG -3'

Posted On

2016-03-01