Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02026:Tchhl1'

184155

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tchhl1

Ensembl Gene

ENSMUSG00000027908

Gene Name

trichohyalin-like 1

Synonyms

S100a17, Thhl1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02026

Quality Score

Status

Chromosome

Chromosomal Location

93376061-93379287 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 93377862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 189 (A189S)

Ref Sequence

ENSEMBL: ENSMUSP00000029516 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029516]

AlphaFold

Q9D3P1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029516
AA Change: A189S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029516
Gene: ENSMUSG00000027908
AA Change: A189S

Domain	Start	End	E-Value	Type
Pfam:S_100	4	47	1.2e-15	PFAM
low complexity region	111	124	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the S100 fused-type protein (SFTP) gene family, and is located in a cluster of SFTP genes on chromosome 1q21. Several members of this family have been implicated in the development of complex skin disorders. This gene is evolutionarily conserved; its expression appears to be hair-specific and spatially restricted within the distal inner root sheath of the hair follicle. It thus may have an important role in hair morphogenesis. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,809,251 (GRCm39)	V237E	possibly damaging	Het
Amh	T	C	10: 80,641,242 (GRCm39)	L54P	probably damaging	Het
Aoc3	T	C	11: 101,228,421 (GRCm39)	S743P	probably benign	Het
Arhgap23	T	A	11: 97,342,407 (GRCm39)	W19R	probably damaging	Het
Atm	C	T	9: 53,353,717 (GRCm39)		probably null	Het
Ccdc47	T	C	11: 106,095,853 (GRCm39)	E281G	probably damaging	Het
Col7a1	A	C	9: 108,797,097 (GRCm39)	K1650N	probably damaging	Het
Cstdc5	C	A	16: 36,187,848 (GRCm39)	V6F	possibly damaging	Het
Evi2b	T	C	11: 79,406,613 (GRCm39)	S321G	probably damaging	Het
Fancm	T	G	12: 65,152,508 (GRCm39)	V988G	probably benign	Het
Gbp2	A	G	3: 142,339,241 (GRCm39)	Y431C	probably damaging	Het
Gclc	T	C	9: 77,699,342 (GRCm39)	V530A	probably benign	Het
Gm5885	T	C	6: 133,508,291 (GRCm39)		noncoding transcript	Het
Hlcs	A	T	16: 93,935,564 (GRCm39)	I576N	probably damaging	Het
Hnrnpul1	A	T	7: 25,444,587 (GRCm39)	F240L	probably damaging	Het
Itgb6	C	A	2: 60,458,410 (GRCm39)	V448F	possibly damaging	Het
Lama1	A	G	17: 68,116,287 (GRCm39)	T2385A	possibly damaging	Het
Lamc2	C	T	1: 153,020,482 (GRCm39)		probably benign	Het
Lrrc32	C	T	7: 98,148,767 (GRCm39)	R516C	probably benign	Het
Lrrtm3	T	C	10: 63,924,231 (GRCm39)	N312S	probably damaging	Het
Ltbp4	G	A	7: 27,026,842 (GRCm39)	R468*	probably null	Het
Man1a	T	C	10: 53,890,569 (GRCm39)	E373G	probably damaging	Het
Myo1h	A	T	5: 114,461,505 (GRCm39)	Q250L	probably null	Het
Myo9a	T	C	9: 59,813,245 (GRCm39)	V2077A	probably damaging	Het
Or14j3	A	G	17: 37,900,298 (GRCm39)		probably benign	Het
Otud5	C	T	X: 7,738,232 (GRCm39)		probably benign	Het
Pcsk1	A	G	13: 75,260,772 (GRCm39)	S332G	probably benign	Het
Pde8b	A	G	13: 95,170,869 (GRCm39)	V549A	probably damaging	Het
Pgap1	A	T	1: 54,533,978 (GRCm39)	M645K	probably benign	Het
Pm20d1	A	T	1: 131,729,497 (GRCm39)	R175*	probably null	Het
Polr2b	A	G	5: 77,480,099 (GRCm39)	N585S	probably benign	Het
Recql	T	A	6: 142,312,394 (GRCm39)	K41*	probably null	Het
Sccpdh	A	T	1: 179,505,634 (GRCm39)	H138L	possibly damaging	Het
Sec31a	A	T	5: 100,517,485 (GRCm39)	S951T	probably benign	Het
Slc44a4	A	T	17: 35,140,832 (GRCm39)		probably benign	Het
Tdrd12	G	A	7: 35,203,658 (GRCm39)		probably benign	Het
Tesl2	T	G	X: 23,824,233 (GRCm39)	H314P	probably damaging	Het
Trbv12-1	A	G	6: 41,090,928 (GRCm39)	D100G	probably damaging	Het
Ttll13	T	A	7: 79,910,127 (GRCm39)	S757T	probably benign	Het
Vipas39	T	A	12: 87,298,483 (GRCm39)		probably benign	Het
Vmn1r64	G	A	7: 5,886,649 (GRCm39)	P298L	possibly damaging	Het
Vmn1r81	A	G	7: 11,994,432 (GRCm39)	S59P	probably damaging	Het
Vsx1	A	T	2: 150,530,447 (GRCm39)	V145D	probably benign	Het
Wdfy4	T	A	14: 32,815,257 (GRCm39)	N1586I	probably damaging	Het
Zan	T	A	5: 137,403,726 (GRCm39)		probably benign	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zzef1	T	A	11: 72,772,164 (GRCm39)	M1707K	probably benign	Het

Other mutations in Tchhl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Tchhl1	APN	3	93,378,230 (GRCm39)	missense	probably benign	0.00
IGL00803:Tchhl1	APN	3	93,378,207 (GRCm39)	missense	probably benign	0.00
IGL01075:Tchhl1	APN	3	93,377,623 (GRCm39)	missense	probably damaging	1.00
IGL01814:Tchhl1	APN	3	93,377,656 (GRCm39)	missense	possibly damaging	0.53
IGL02407:Tchhl1	APN	3	93,378,634 (GRCm39)	missense	possibly damaging	0.95
IGL03286:Tchhl1	APN	3	93,378,430 (GRCm39)	missense	probably benign	0.00
IGL03293:Tchhl1	APN	3	93,377,582 (GRCm39)	missense	probably damaging	1.00
Reef	UTSW	3	93,378,336 (GRCm39)	nonsense	probably null
R0371:Tchhl1	UTSW	3	93,376,884 (GRCm39)	missense	probably damaging	1.00
R0403:Tchhl1	UTSW	3	93,378,336 (GRCm39)	nonsense	probably null
R0763:Tchhl1	UTSW	3	93,378,878 (GRCm39)	missense	probably benign	0.05
R1052:Tchhl1	UTSW	3	93,377,520 (GRCm39)	missense	probably benign	0.32
R1848:Tchhl1	UTSW	3	93,378,408 (GRCm39)	missense	probably damaging	1.00
R4917:Tchhl1	UTSW	3	93,377,623 (GRCm39)	missense	possibly damaging	0.52
R4918:Tchhl1	UTSW	3	93,377,623 (GRCm39)	missense	possibly damaging	0.52
R4945:Tchhl1	UTSW	3	93,378,883 (GRCm39)	missense	probably benign	0.00
R5251:Tchhl1	UTSW	3	93,377,860 (GRCm39)	missense	possibly damaging	0.70
R5260:Tchhl1	UTSW	3	93,378,102 (GRCm39)	missense	probably damaging	1.00
R5398:Tchhl1	UTSW	3	93,378,910 (GRCm39)	missense	probably benign	0.01
R5759:Tchhl1	UTSW	3	93,378,863 (GRCm39)	missense	probably damaging	1.00
R5760:Tchhl1	UTSW	3	93,378,863 (GRCm39)	missense	probably damaging	1.00
R5872:Tchhl1	UTSW	3	93,377,836 (GRCm39)	missense	probably benign	0.31
R6592:Tchhl1	UTSW	3	93,378,116 (GRCm39)	missense	probably damaging	0.99
R7464:Tchhl1	UTSW	3	93,377,971 (GRCm39)	missense	probably benign	0.01
R7653:Tchhl1	UTSW	3	93,378,451 (GRCm39)	missense	probably benign	0.01
R7726:Tchhl1	UTSW	3	93,379,065 (GRCm39)	missense	probably benign	0.07
R8487:Tchhl1	UTSW	3	93,376,869 (GRCm39)	missense	probably damaging	1.00
R9207:Tchhl1	UTSW	3	93,377,819 (GRCm39)	missense	possibly damaging	0.94
RF018:Tchhl1	UTSW	3	93,377,691 (GRCm39)	missense	probably benign	0.01

Posted On

2014-05-07