Mutagenetix > Incidental Mutation

Incidental Mutation 'R0763:Tchhl1'

72494

Institutional Source

Beutler Lab

Gene Symbol

Tchhl1

Ensembl Gene

ENSMUSG00000027908

Gene Name

trichohyalin-like 1

Synonyms

S100a17, Thhl1

MMRRC Submission

038943-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93376061-93379287 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 93378878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 527 (E527D)

Ref Sequence

ENSEMBL: ENSMUSP00000029516 (fasta)

Gene Model

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

AlphaFold

Q9D3P1

Predicted Effect

probably benign
Transcript: ENSMUST00000029516
AA Change: E527D

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029516
Gene: ENSMUSG00000027908
AA Change: E527D

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

Meta Mutation Damage Score

0.0776

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 93.8%

Validation Efficiency

96% (52/54)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	C	6: 88,815,261 (GRCm39)	F290V	probably damaging	Het
Adam26b	G	A	8: 43,973,601 (GRCm39)	S467L	probably damaging	Het
Adgrv1	T	A	13: 81,647,244 (GRCm39)	I3099F	probably damaging	Het
Akap6	A	G	12: 53,188,997 (GRCm39)	D2137G	possibly damaging	Het
Arhgdig	T	C	17: 26,419,275 (GRCm39)	Y48C	probably damaging	Het
Astn1	A	G	1: 158,337,460 (GRCm39)	I389V	possibly damaging	Het
Atp8a1	T	C	5: 67,817,226 (GRCm39)	D920G	probably benign	Het
BC016579	T	A	16: 45,449,818 (GRCm39)	N200I	probably damaging	Het
Casc3	T	C	11: 98,722,144 (GRCm39)	Y661H	probably damaging	Het
Cep120	A	C	18: 53,854,809 (GRCm39)	V442G	probably benign	Het
Cfap65	A	G	1: 74,943,841 (GRCm39)	Y1557H	probably damaging	Het
Chd2	G	T	7: 73,097,022 (GRCm39)	Q1485K	possibly damaging	Het
Cntrl	T	C	2: 35,061,078 (GRCm39)	F1967L	probably benign	Het
Csmd1	G	A	8: 17,077,300 (GRCm39)	T119M	possibly damaging	Het
Dnah9	T	C	11: 66,046,356 (GRCm39)	H64R	probably benign	Het
Ep400	T	C	5: 110,813,703 (GRCm39)	R2899G	probably damaging	Het
Foxl2	A	C	9: 98,838,086 (GRCm39)	T125P	probably damaging	Het
Foxred1	A	T	9: 35,118,769 (GRCm39)		probably null	Het
H2-Eb1	T	A	17: 34,533,133 (GRCm39)		probably benign	Het
Heatr3	T	C	8: 88,884,869 (GRCm39)	S378P	probably damaging	Het
Hectd4	T	C	5: 121,445,096 (GRCm39)		probably benign	Het
Hps3	T	G	3: 20,057,443 (GRCm39)	R780S	probably damaging	Het
Ifi44	G	A	3: 151,455,135 (GRCm39)	A30V	probably damaging	Het
Il12rb1	G	A	8: 71,265,934 (GRCm39)		probably benign	Het
Invs	G	A	4: 48,392,628 (GRCm39)	G281R	possibly damaging	Het
Itgax	C	A	7: 127,747,112 (GRCm39)		probably benign	Het
Jade1	G	T	3: 41,568,218 (GRCm39)	C762F	possibly damaging	Het
Lama1	C	T	17: 68,079,813 (GRCm39)	P1229S	probably damaging	Het
Mmp15	C	A	8: 96,094,856 (GRCm39)	D243E	probably benign	Het
Mug2	A	G	6: 122,052,253 (GRCm39)	T1004A	probably benign	Het
Myh14	A	T	7: 44,314,791 (GRCm39)	V44E	probably damaging	Het
N4bp2l1	C	A	5: 150,517,869 (GRCm39)	R11S	possibly damaging	Het
Notch4	T	A	17: 34,784,306 (GRCm39)	C36*	probably null	Het
Nwd1	A	G	8: 73,397,672 (GRCm39)	D637G	probably damaging	Het
Ogfod1	T	C	8: 94,782,264 (GRCm39)	I238T	probably benign	Het
Pakap	G	A	4: 57,688,441 (GRCm39)	E95K	probably damaging	Het
Papln	A	G	12: 83,838,639 (GRCm39)	D1256G	possibly damaging	Het
Ppp1r26	T	C	2: 28,340,379 (GRCm39)	L3P	probably damaging	Het
Rbm10	C	T	X: 20,503,903 (GRCm39)		probably benign	Het
Slc17a5	A	T	9: 78,460,372 (GRCm39)		probably benign	Het
Slc25a17	A	G	15: 81,207,907 (GRCm39)		probably benign	Het
Socs4	T	C	14: 47,528,112 (GRCm39)	F349S	probably damaging	Het
Spata31f1a	A	G	4: 42,851,238 (GRCm39)	V306A	probably damaging	Het
Tm7sf3	A	G	6: 146,507,787 (GRCm39)	L425S	possibly damaging	Het
Tmem266	G	T	9: 55,322,239 (GRCm39)	V112L	probably damaging	Het
Tmem30c	T	A	16: 57,090,539 (GRCm39)	I223F	possibly damaging	Het
Tomm70a	G	A	16: 56,942,535 (GRCm39)	G104D	probably benign	Het
Ttc17	G	T	2: 94,163,148 (GRCm39)	A834E	probably benign	Het
Ttn	C	T	2: 76,561,534 (GRCm39)	V20664M	probably damaging	Het
Zbed5	T	C	5: 129,931,020 (GRCm39)	V323A	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTGGCACCACTTGAGAAGCAATC -3'
(R):5'- ATCATGCAGACCATCTCTGGCAGAC -3'

Sequencing Primer
(F):5'- CCACTTGAGAAGCAATCTCAAAG -3'
(R):5'- GACCATCTCTGGCAGACTGTTC -3'

Posted On

2013-09-30