Mutagenetix > Incidental Mutation

Incidental Mutation 'R6313:Tchh'

510506

Institutional Source

Beutler Lab

Gene Symbol

Tchh

Ensembl Gene

ENSMUSG00000052415

Gene Name

trichohyalin

Synonyms

Thh, AHF

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6313 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93442330-93449077 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93447851 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1533 (Q1533K)

Ref Sequence

ENSEMBL: ENSMUSP00000069525 (fasta)

Gene Model

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

AlphaFold

A0A0B4J1F9

Predicted Effect

unknown
Transcript: ENSMUST00000064257
AA Change: Q1533K

SMART Domains

Protein: ENSMUSP00000069525
Gene: ENSMUSG00000052415
AA Change: Q1533K

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

0.0849

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	C	T	9: 51,290,181	D192N	probably damaging	Het
4932415D10Rik	T	C	10: 82,293,636	N1180S	probably benign	Het
Abca16	T	C	7: 120,527,121	F1167L	probably damaging	Het
Abraxas2	G	A	7: 132,874,965	A145T	probably damaging	Het
Acaca	C	T	11: 84,292,929	T32I	probably benign	Het
Adam6a	A	T	12: 113,545,050	N348Y	possibly damaging	Het
Ankdd1a	C	T	9: 65,508,061	A227T	possibly damaging	Het
Arhgef38	T	C	3: 133,234,708	D39G	possibly damaging	Het
Arid5b	T	C	10: 68,097,582	D587G	possibly damaging	Het
Brwd1	A	G	16: 96,007,941	V1963A	probably benign	Het
Ccdc136	T	A	6: 29,410,205	L34Q	probably damaging	Het
Cdh2	T	C	18: 16,774,522	Q53R	probably benign	Het
Celsr2	G	A	3: 108,401,214	S1799L	probably damaging	Het
Cenpe	A	G	3: 135,230,175	E457G	probably benign	Het
Cmtm1	A	T	8: 104,305,163	M283K	possibly damaging	Het
Dcdc5	T	C	2: 106,368,171		noncoding transcript	Het
Decr1	T	A	4: 15,924,261	M220L	probably benign	Het
Dgkg	T	G	16: 22,519,561	D592A	probably damaging	Het
Dkkl1	T	C	7: 45,211,438	Q39R	probably benign	Het
Dyrk1a	T	A	16: 94,659,514	C10S	possibly damaging	Het
Efcab2	A	T	1: 178,481,371	E146D	probably benign	Het
Efhc1	T	C	1: 20,979,428	V504A	possibly damaging	Het
Ermard	T	G	17: 15,053,205		probably null	Het
Espl1	T	C	15: 102,315,812	V1266A	probably benign	Het
Fbxw22	A	C	9: 109,403,397	V40G	probably damaging	Het
Gm3460	A	T	14: 6,619,410	I194N	possibly damaging	Het
Gnai2	C	T	9: 107,620,097	V33M	possibly damaging	Het
H2-DMb1	T	C	17: 34,157,532		probably null	Het
Hc	T	C	2: 34,989,839		probably null	Het
Iars	T	C	13: 49,708,445	S491P	probably damaging	Het
Knl1	T	A	2: 119,069,318	L500H	probably damaging	Het
Lamb1	A	T	12: 31,269,147	T102S	probably damaging	Het
Lrrc7	A	G	3: 158,160,736	S1123P	probably damaging	Het
Mettl5	C	A	2: 69,871,727		probably null	Het
Mmp11	A	G	10: 75,923,984	*4R	probably null	Het
Myom1	A	T	17: 71,082,488	D911V	probably benign	Het
Nid1	A	G	13: 13,463,782	T96A	probably benign	Het
Nlrp4e	G	T	7: 23,353,172	V839L	probably benign	Het
Notch3	A	T	17: 32,151,154		probably null	Het
Olfr1082	T	C	2: 86,594,067	T254A	possibly damaging	Het
Pcdh8	T	C	14: 79,767,651	H978R	probably benign	Het
Pde8b	A	T	13: 95,042,000	C537*	probably null	Het
Polr1b	T	C	2: 129,125,446	F920L	probably damaging	Het
Polr2f	A	G	15: 79,151,373	T87A	probably damaging	Het
Pon2	T	A	6: 5,272,421	H133L	probably damaging	Het
Ptk2b	T	A	14: 66,178,831	E205V	probably damaging	Het
Rb1cc1	T	A	1: 6,244,133	M343K	probably benign	Het
Rlf	G	A	4: 121,148,610	R1058W	probably damaging	Het
S100z	T	A	13: 95,478,574	K28*	probably null	Het
Scarf1	T	A	11: 75,520,315	N273K	probably benign	Het
Setd2	A	G	9: 110,556,366	I136M	unknown	Het
Sfrp2	A	G	3: 83,766,984	D148G	probably benign	Het
Slc24a4	A	G	12: 102,254,510	E400G	probably benign	Het
Slc2a9	T	G	5: 38,453,121	I112L	probably benign	Het
Smc5	A	T	19: 23,208,948	Y972*	probably null	Het
Sntg1	T	C	1: 8,445,024		probably null	Het
Stag1	A	G	9: 100,757,733	D114G	probably damaging	Het
Suclg1	T	C	6: 73,256,209	S46P	probably damaging	Het
Synj1	C	T	16: 90,946,815	A1186T	probably benign	Het
Tas2r124	A	G	6: 132,755,447	T240A	probably benign	Het
Tax1bp1	T	C	6: 52,744,356		probably null	Het
Tmprss15	T	C	16: 78,962,170	T887A	probably benign	Het
Ttn	T	C	2: 76,706,593	I34963V	probably benign	Het
Unc79	G	A	12: 103,112,619	G1485D	probably damaging	Het
Usp9y	G	T	Y: 1,385,355	H633N	probably benign	Homo
Vmn2r99	A	T	17: 19,382,605	N541Y	probably damaging	Het
Zbtb11	T	A	16: 55,990,491	N337K	probably benign	Het
Zfp260	T	A	7: 30,104,842	C56S	possibly damaging	Het
Zfp457	C	T	13: 67,292,682	E610K	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
R4836:Tchh	UTSW	3	93447588	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
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'- GCGTGACAGAAAATTCCGTG -3'
(R):5'- TTTAAGGGCGGTATTGAGACC -3'

Sequencing Primer
(F):5'- CGTGAGGTAGAAGAGCTTCGCC -3'
(R):5'- CTGCTCCTGGATGTACTCATAGAG -3'

Posted On

2018-04-02