Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03293:Tchhl1'

415951

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 #

IGL03293

Quality Score

Status

Chromosome

Chromosomal Location

93376061-93379287 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93377582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 95 (E95D)

Ref Sequence

ENSEMBL: ENSMUSP00000029516 (fasta)

Gene Model

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

AlphaFold

Q9D3P1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029516
AA Change: E95D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029516
Gene: ENSMUSG00000027908
AA Change: E95D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195137

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 11,615,375 (GRCm39)		probably null	Het
Akr1c14	C	T	13: 4,129,130 (GRCm39)	R45*	probably null	Het
Ccdc62	T	A	5: 124,089,288 (GRCm39)	L309I	possibly damaging	Het
Ccdc66	T	A	14: 27,212,628 (GRCm39)	N565I	probably damaging	Het
Cerkl	G	T	2: 79,172,719 (GRCm39)	A318E	probably damaging	Het
Clec4n	A	T	6: 123,209,105 (GRCm39)	T57S	probably benign	Het
Cluh	A	G	11: 74,556,578 (GRCm39)	E921G	probably benign	Het
Cnbd1	C	T	4: 18,860,565 (GRCm39)	E394K	possibly damaging	Het
Dmgdh	G	T	13: 93,843,209 (GRCm39)	M348I	probably benign	Het
Dnajc13	G	A	9: 104,051,625 (GRCm39)	S1744L	possibly damaging	Het
Dspp	A	T	5: 104,325,427 (GRCm39)	S597C	unknown	Het
Dync1h1	A	T	12: 110,595,168 (GRCm39)	N1360I	probably benign	Het
Eepd1	A	G	9: 25,514,708 (GRCm39)	H505R	possibly damaging	Het
Entr1	A	T	2: 26,277,688 (GRCm39)		probably benign	Het
Gcnt7	T	C	2: 172,296,303 (GRCm39)	T174A	possibly damaging	Het
Gnb1	T	C	4: 155,625,004 (GRCm39)		probably benign	Het
Gpam	A	G	19: 55,059,448 (GRCm39)	S800P	probably benign	Het
Gsr	T	C	8: 34,185,024 (GRCm39)		probably benign	Het
Herc2	A	G	7: 55,804,878 (GRCm39)	K2302R	probably benign	Het
Hipk1	C	A	3: 103,684,575 (GRCm39)	A347S	possibly damaging	Het
Iqgap2	T	C	13: 95,867,942 (GRCm39)	N222S	probably damaging	Het
Marco	T	A	1: 120,422,524 (GRCm39)	M46L	probably benign	Het
Morc2b	A	T	17: 33,357,337 (GRCm39)	V145D	probably damaging	Het
Mprip	C	A	11: 59,586,989 (GRCm39)	P54Q	probably damaging	Het
Ndufv2	A	T	17: 66,390,444 (GRCm39)	C175*	probably null	Het
Or13c25	A	G	4: 52,910,835 (GRCm39)	*320Q	probably null	Het
Or4p20	T	C	2: 88,253,571 (GRCm39)	D266G	probably damaging	Het
Orc3	A	C	4: 34,595,210 (GRCm39)	I195S	probably damaging	Het
Otos	C	A	1: 92,572,135 (GRCm39)	E64*	probably null	Het
Plxna2	T	C	1: 194,487,253 (GRCm39)	S1603P	probably damaging	Het
Rlf	A	T	4: 121,005,527 (GRCm39)	I1151N	probably benign	Het
Scaper	A	G	9: 55,782,107 (GRCm39)	V283A	probably benign	Het
Slc25a43	A	G	X: 36,039,252 (GRCm39)	T270A	probably benign	Het
Slc35a5	A	G	16: 44,964,144 (GRCm39)	V78A	probably damaging	Het
Smurf1	A	T	5: 144,818,609 (GRCm39)	D636E	probably benign	Het
Tcp10a	A	G	17: 7,593,891 (GRCm39)	E72G	possibly damaging	Het
Tmem232	A	G	17: 65,757,369 (GRCm39)	S275P	probably damaging	Het
Ugt1a5	T	C	1: 88,094,540 (GRCm39)	F256S	probably damaging	Het
Ulbp3	A	G	10: 3,075,699 (GRCm39)		noncoding transcript	Het
Vmn2r5	A	G	3: 64,398,747 (GRCm39)	V744A	probably benign	Het
Vmn2r53	A	T	7: 12,332,349 (GRCm39)	S433R	probably benign	Het
Vmn2r9	A	T	5: 108,995,997 (GRCm39)	I217N	probably damaging	Het
Wdr83	G	T	8: 85,807,216 (GRCm39)	A10E	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
IGL02026:Tchhl1	APN	3	93,377,862 (GRCm39)	missense	probably damaging	0.99
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
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

2016-08-02