Mutagenetix > Incidental Mutation

Incidental Mutation 'R0371:Tchhl1'

30460

Institutional Source

Beutler Lab

Gene Symbol

Tchhl1

Ensembl Gene

ENSMUSG00000027908

Gene Name

trichohyalin-like 1

Synonyms

S100a17, Thhl1

MMRRC Submission

038577-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93376061-93379287 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93376884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 27 (A27E)

Ref Sequence

ENSEMBL: ENSMUSP00000029516 (fasta)

Gene Model

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

AlphaFold

Q9D3P1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029516
AA Change: A27E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029516
Gene: ENSMUSG00000027908
AA Change: A27E

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

Meta Mutation Damage Score

0.1965

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.6%

Validation Efficiency

99% (67/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	G	A	16: 4,105,911 (GRCm39)	R1068C	probably benign	Het
Afmid	C	T	11: 117,725,966 (GRCm39)		probably benign	Het
Aqr	A	G	2: 113,988,085 (GRCm39)	V159A	possibly damaging	Het
Atp6v0d2	G	C	4: 19,880,033 (GRCm39)	T288R	possibly damaging	Het
Btnl1	T	C	17: 34,600,031 (GRCm39)	V178A	probably damaging	Het
Ccdc110	T	A	8: 46,395,843 (GRCm39)	M578K	possibly damaging	Het
Ccdc38	G	T	10: 93,398,674 (GRCm39)	E51*	probably null	Het
Cep290	T	A	10: 100,354,426 (GRCm39)		probably benign	Het
Cilp2	T	C	8: 70,334,256 (GRCm39)	E914G	probably damaging	Het
Col6a2	T	C	10: 76,450,307 (GRCm39)	N208S	probably benign	Het
Ctrb1	T	A	8: 112,413,783 (GRCm39)	I194F	probably benign	Het
Cyp4a12a	C	G	4: 115,183,880 (GRCm39)	R229G	probably damaging	Het
Dach1	C	T	14: 98,207,339 (GRCm39)	V337M	probably damaging	Het
Dcbld2	A	G	16: 58,271,186 (GRCm39)	N321S	probably benign	Het
Enpep	C	T	3: 129,077,516 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,404,929 (GRCm39)	L560P	probably damaging	Het
Fdxr	T	C	11: 115,166,915 (GRCm39)	H58R	possibly damaging	Het
Filip1	G	T	9: 79,767,373 (GRCm39)	P147T	probably damaging	Het
Fras1	G	A	5: 96,703,190 (GRCm39)	E318K	possibly damaging	Het
Grk2	T	C	19: 4,341,614 (GRCm39)		probably null	Het
Gvin-ps6	A	T	7: 106,021,986 (GRCm39)	C339S	unknown	Het
Havcr1	T	C	11: 46,643,416 (GRCm39)	I112T	possibly damaging	Het
Hjurp	G	A	1: 88,205,090 (GRCm39)		probably benign	Het
Ildr2	G	A	1: 166,131,133 (GRCm39)	V330I	probably damaging	Het
Ino80d	T	C	1: 63,097,115 (GRCm39)		probably benign	Het
Iqsec1	A	G	6: 90,647,385 (GRCm39)		probably benign	Het
Irf2bpl	C	T	12: 86,928,417 (GRCm39)	W752*	probably null	Het
Kdr	T	A	5: 76,102,494 (GRCm39)	H1211L	probably benign	Het
Klri2	A	G	6: 129,709,106 (GRCm39)	*249R	probably null	Het
Ktn1	A	T	14: 47,961,460 (GRCm39)	K1054*	probably null	Het
Lactb2	A	G	1: 13,720,984 (GRCm39)	S83P	possibly damaging	Het
Lrrc3b	A	T	14: 15,358,560 (GRCm38)	C15*	probably null	Het
Mrs2	T	C	13: 25,177,078 (GRCm39)	I430V	probably benign	Het
Myo3b	C	T	2: 70,083,304 (GRCm39)		probably benign	Het
Nbas	C	T	12: 13,381,096 (GRCm39)	T696I	probably damaging	Het
Nsun6	T	C	2: 15,034,898 (GRCm39)	D240G	probably damaging	Het
Nup107	T	C	10: 117,599,674 (GRCm39)	E615G	probably damaging	Het
Or2a25	A	T	6: 42,888,872 (GRCm39)	R138S	probably benign	Het
Or3a1d	T	A	11: 74,237,760 (GRCm39)	I217F	probably damaging	Het
Or4k77	A	T	2: 111,199,498 (GRCm39)	I174L	probably benign	Het
Or5ac23	A	G	16: 59,149,585 (GRCm39)	C96R	possibly damaging	Het
Pabpc1l	G	A	2: 163,877,192 (GRCm39)	V256M	probably benign	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Sik1	T	C	17: 32,067,958 (GRCm39)	D409G	probably benign	Het
Slc22a22	A	T	15: 57,113,131 (GRCm39)	D369E	possibly damaging	Het
Smg1	T	A	7: 117,767,523 (GRCm39)		probably benign	Het
Snap29	C	A	16: 17,224,067 (GRCm39)	D27E	probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Sorcs3	A	G	19: 48,592,333 (GRCm39)	I333V	probably benign	Het
Spag7	A	G	11: 70,555,622 (GRCm39)	M105T	probably damaging	Het
Srgap3	A	T	6: 112,748,432 (GRCm39)	S407T	probably damaging	Het
Supt6	T	C	11: 78,113,983 (GRCm39)	N854S	probably benign	Het
Syne2	T	C	12: 75,980,619 (GRCm39)	S1460P	probably damaging	Het
Taok3	C	T	5: 117,344,752 (GRCm39)	Q160*	probably null	Het
Tet1	T	C	10: 62,714,178 (GRCm39)	D539G	probably damaging	Het
Tut1	T	C	19: 8,940,137 (GRCm39)	F374L	probably damaging	Het
Unc5c	C	T	3: 141,533,283 (GRCm39)	P770S	probably benign	Het
Vmn2r101	T	A	17: 19,810,394 (GRCm39)	N393K	probably benign	Het
Vmn2r94	T	A	17: 18,477,556 (GRCm39)	H285L	probably benign	Het
Wdr62	G	A	7: 29,941,583 (GRCm39)	S700L	possibly damaging	Het
Wscd1	A	G	11: 71,679,549 (GRCm39)	D474G	probably damaging	Het
Zcchc7	A	G	4: 44,762,190 (GRCm39)	N106S	probably damaging	Het
Zfp345	G	T	2: 150,313,983 (GRCm39)	T518N	possibly damaging	Het
Zfp648	A	T	1: 154,080,413 (GRCm39)	S191C	possibly damaging	Het
Zkscan8	C	T	13: 21,710,844 (GRCm39)	E89K	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TGAGTGTTCCCACAACACATGAGTG -3'
(R):5'- AGAGGTCTGCCTTGATGAAGCAAC -3'

Sequencing Primer
(F):5'- CACATGAGTGTTGCTGTTTATCAC -3'
(R):5'- GCAACAGTTGCATAATGGTAACC -3'

Posted On

2013-04-24