Mutagenetix > Incidental Mutations

Incidental Mutation 'R5435:Tchh'

428246

Institutional Source

Beutler Lab

Gene Symbol

Tchh

Ensembl Gene

ENSMUSG00000052415

Gene Name

trichohyalin

Synonyms

Thh, AHF

MMRRC Submission

043000-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5435 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93442330-93449077 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93443672 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 140 (R140S)

Ref Sequence

ENSEMBL: ENSMUSP00000069525 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064257
AA Change: R140S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000069525
Gene: ENSMUSG00000052415
AA Change: R140S

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,741,250		probably benign	Het
3425401B19Rik	A	G	14: 32,661,456	F851L	probably benign	Het
Abca17	C	T	17: 24,267,614	V1480I	possibly damaging	Het
Acsbg1	G	T	9: 54,615,869	Y491*	probably null	Het
Acsf3	T	A	8: 122,780,281	N104K	probably damaging	Het
Adam23	T	C	1: 63,546,453	Y400H	possibly damaging	Het
Adgra3	G	A	5: 49,990,126	T524M	probably damaging	Het
Aff1	G	A	5: 103,754,332		probably benign	Het
Anxa9	T	C	3: 95,297,250	Y321C	probably damaging	Het
Ap1g1	T	A	8: 109,838,920	Y329N	probably damaging	Het
Aph1c	A	T	9: 66,834,501	I33N	possibly damaging	Het
B3galnt2	A	G	13: 13,996,990	E491G	probably benign	Het
Bdh1	C	T	16: 31,456,657	R235C	probably damaging	Het
Ccar2	A	G	14: 70,139,327	L856P	probably damaging	Het
Ccdc107	A	T	4: 43,493,519	D30V	probably damaging	Het
Ccdc116	G	T	16: 17,142,762	H64N	probably benign	Het
Ccl12	T	C	11: 82,103,175	I86T	possibly damaging	Het
Col2a1	T	C	15: 98,000,510		probably benign	Het
Col4a4	T	A	1: 82,454,007	I1519F	unknown	Het
Ddx19b	T	C	8: 111,008,826	Q416R	possibly damaging	Het
Dnah6	T	A	6: 73,060,138	M3374L	probably benign	Het
Dnajc6	A	T	4: 101,606,610	I119F	probably damaging	Het
Ensa	C	A	3: 95,622,458		probably benign	Het
Fbxo4	C	T	15: 3,965,792	V357I	possibly damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Foxf1	G	A	8: 121,084,492	G32S	probably damaging	Het
Gls2	G	A	10: 128,195,126		probably benign	Het
Gm13599	T	A	2: 67,396,152		noncoding transcript	Het
Gmnn	A	G	13: 24,752,101	S197P	probably benign	Het
Guf1	A	T	5: 69,563,169	H324L	probably benign	Het
H2-Q6	A	G	17: 35,425,685	D150G	probably damaging	Het
Herc3	T	A	6: 58,855,806	L152Q	probably damaging	Het
Hnrnpul2	T	G	19: 8,820,318	S13A	probably benign	Het
Ighv5-4	A	G	12: 113,597,663	F46L	probably benign	Het
Kank1	T	G	19: 25,411,143	S727A	probably benign	Het
Kcnma1	A	T	14: 23,528,404	Y201*	probably null	Het
Lyst	A	T	13: 13,777,064	H3750L	possibly damaging	Het
Mettl25	A	G	10: 105,779,586		probably null	Het
Mpdz	A	G	4: 81,283,487		probably benign	Het
Myh9	C	T	15: 77,769,609	V1280I	probably benign	Het
Neto1	A	T	18: 86,398,263	T32S	probably benign	Het
Nol7	C	A	13: 43,401,372	H187Q	possibly damaging	Het
Olfr992	T	A	2: 85,400,470	N21I	probably benign	Het
Pcdha8	A	G	18: 36,993,599	D378G	probably damaging	Het
Peak1	A	G	9: 56,206,486	S694P	probably damaging	Het
Pih1d1	T	A	7: 45,156,272		probably null	Het
Pik3c2g	T	G	6: 139,715,855		probably null	Het
Prkar2a	A	G	9: 108,740,483	R247G	probably damaging	Het
Psg26	A	G	7: 18,478,473	I319T	possibly damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa3	T	C	8: 13,631,811	E46G	possibly damaging	Het
Rbbp5	T	A	1: 132,494,275	H304Q	probably damaging	Het
Scn1a	T	A	2: 66,273,534	E1783V	probably damaging	Het
Stag1	A	G	9: 100,953,550	N151S	probably benign	Het
Tbc1d32	C	A	10: 56,040,150	A1191S	probably damaging	Het
Trank1	A	G	9: 111,391,890	Y2565C	probably benign	Het
Ttn	A	T	2: 76,914,358	V5449D	probably damaging	Het
Tubgcp2	G	A	7: 139,996,072	P893S	possibly damaging	Het
Wdfy4	A	G	14: 33,020,311	F2325S	probably damaging	Het
Wdr35	A	G	12: 8,989,951	D352G	probably benign	Het
Wee1	TCCCC	TCCC	7: 110,124,569		probably null	Het
Ypel3	A	G	7: 126,775,788		probably benign	Het
Zan	T	A	5: 137,403,762	T4023S	unknown	Het
Zfp735	T	A	11: 73,712,113	C628S	possibly 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
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
Z1088:Tchh	UTSW	3	93445682	nonsense	probably null
Z1176:Tchh	UTSW	3	93446859	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCTAGAACTTCTGGATCGCG -3'
(R):5'- TCAGAAAACTCCTCCGCGTC -3'

Sequencing Primer
(F):5'- TAGAACTTCTGGATCGCGACTGC -3'
(R):5'- GCGTCACGACCCTTACTCCAG -3'

Posted On

2016-09-01