Mutagenetix > Incidental Mutation

Incidental Mutation 'R5260:Tchhl1'

401354

Institutional Source

Beutler Lab

Gene Symbol

Tchhl1

Ensembl Gene

ENSMUSG00000027908

Gene Name

trichohyalin-like 1

Synonyms

S100a17, Thhl1

MMRRC Submission

042829-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5260 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93376061-93379287 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93378102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 269 (S269P)

Ref Sequence

ENSEMBL: ENSMUSP00000029516 (fasta)

Gene Model

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

AlphaFold

Q9D3P1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029516
AA Change: S269P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029516
Gene: ENSMUSG00000027908
AA Change: S269P

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

0.1185

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (77/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	A	T	7: 132,461,003 (GRCm39)	I14F	probably damaging	Het
Acin1	T	C	14: 54,880,279 (GRCm39)		probably benign	Het
Adamts9	C	A	6: 92,784,118 (GRCm39)	V1579L	probably benign	Het
Adra2a	T	A	19: 54,035,039 (GRCm39)	C132S	probably damaging	Het
Aif1	T	A	17: 35,390,917 (GRCm39)		probably null	Het
Atf5	A	T	7: 44,464,510 (GRCm39)	Y27*	probably null	Het
Atm	A	G	9: 53,417,911 (GRCm39)	S799P	probably damaging	Het
Bmp2k	T	G	5: 97,235,210 (GRCm39)		probably benign	Het
Chaf1a	C	T	17: 56,372,000 (GRCm39)	H723Y	probably damaging	Het
Clint1	T	C	11: 45,798,769 (GRCm39)	W493R	probably damaging	Het
Cyb561a3	T	A	19: 10,565,230 (GRCm39)	V198D	possibly damaging	Het
Cyp2j8	T	C	4: 96,389,301 (GRCm39)	E174G	possibly damaging	Het
Cyp4v3	C	T	8: 45,760,017 (GRCm39)	G512S	probably damaging	Het
Dnah8	T	A	17: 30,919,393 (GRCm39)	V1122D	probably benign	Het
Doc2b	C	A	11: 75,676,989 (GRCm39)	G128V	probably damaging	Het
Dysf	T	C	6: 84,127,016 (GRCm39)	V1378A	probably damaging	Het
Efcab5	A	T	11: 77,028,477 (GRCm39)	S421T	possibly damaging	Het
Efcab6	T	G	15: 83,829,324 (GRCm39)	D672A	probably benign	Het
Eif2ak3	C	A	6: 70,870,113 (GRCm39)	H933Q	probably damaging	Het
Erc1	A	T	6: 119,738,120 (GRCm39)	N574K	probably damaging	Het
Eri2	A	T	7: 119,387,069 (GRCm39)		probably benign	Het
Faxc	A	G	4: 21,948,744 (GRCm39)	Y152C	probably damaging	Het
Fbxl7	T	A	15: 26,543,585 (GRCm39)	Y354F	probably damaging	Het
Fras1	T	A	5: 96,883,046 (GRCm39)	I2526N	possibly damaging	Het
Gm5424	A	T	10: 61,907,374 (GRCm39)		noncoding transcript	Het
Gm6728	T	C	6: 136,463,701 (GRCm39)		noncoding transcript	Het
Golgb1	A	T	16: 36,733,503 (GRCm39)	S917C	probably benign	Het
Gtpbp3	T	C	8: 71,942,062 (GRCm39)		probably benign	Het
Gusb	A	T	5: 130,028,829 (GRCm39)	Y220*	probably null	Het
Gvin3	A	G	7: 106,198,411 (GRCm39)		noncoding transcript	Het
Hmcn1	A	G	1: 150,471,612 (GRCm39)	V4914A	possibly damaging	Het
Iars2	C	A	1: 185,055,931 (GRCm39)	C211F	probably damaging	Het
Kif5b	A	G	18: 6,211,058 (GRCm39)	L802P	probably damaging	Het
Kif5c	A	G	2: 49,625,602 (GRCm39)	E624G	probably damaging	Het
Kmt2d	G	T	15: 98,740,741 (GRCm39)		probably benign	Het
Krt82	C	A	15: 101,456,823 (GRCm39)	G186C	possibly damaging	Het
Lca5	G	A	9: 83,305,276 (GRCm39)	R177C	probably damaging	Het
Mab21l4	A	T	1: 93,087,700 (GRCm39)	V51E	probably damaging	Het
Mier1	T	C	4: 103,019,907 (GRCm39)	S318P	probably benign	Het
Obscn	A	T	11: 58,894,195 (GRCm39)	I1207N	probably damaging	Het
Oog4	C	T	4: 143,164,424 (GRCm39)	G369D	probably benign	Het
Or4c126	A	G	2: 89,824,526 (GRCm39)	D263G	probably damaging	Het
Or4k52	A	G	2: 111,611,526 (GRCm39)	Y287C	probably damaging	Het
Or52d13	A	G	7: 103,109,822 (GRCm39)	F198L	probably benign	Het
Or5d35	A	C	2: 87,855,818 (GRCm39)	I251L	probably benign	Het
Plec	T	C	15: 76,060,824 (GRCm39)	T3060A	probably damaging	Het
Plekhh2	C	T	17: 84,884,593 (GRCm39)	T769I	probably damaging	Het
Prkaa1	A	T	15: 5,190,149 (GRCm39)	S65C	probably damaging	Het
Psma3	T	C	12: 71,031,416 (GRCm39)		probably benign	Het
Ptpn18	T	A	1: 34,502,591 (GRCm39)		probably benign	Het
Ptprv	T	C	1: 135,039,998 (GRCm39)		noncoding transcript	Het
Rac1	C	A	5: 143,493,886 (GRCm39)	V104L	probably benign	Het
Serpinb7	A	T	1: 107,362,479 (GRCm39)	N61I	possibly damaging	Het
Sirt7	A	C	11: 120,511,347 (GRCm39)		probably benign	Het
Srl	G	A	16: 4,300,759 (GRCm39)	R333*	probably null	Het
Srprb	A	T	9: 103,079,119 (GRCm39)	L756Q	probably damaging	Het
Tdo2	C	T	3: 81,882,630 (GRCm39)		probably null	Het
Teddm1a	T	C	1: 153,767,646 (GRCm39)	Y37H	probably benign	Het
Tenm3	T	C	8: 48,689,890 (GRCm39)	Y1899C	probably damaging	Het
Tep1	T	C	14: 51,076,088 (GRCm39)	T1681A	probably benign	Het
Timm44	G	T	8: 4,325,919 (GRCm39)		probably null	Het
Trp73	A	G	4: 154,147,059 (GRCm39)	V322A	possibly damaging	Het
Tsr1	A	C	11: 74,796,781 (GRCm39)	E611A	probably damaging	Het
Unc80	A	G	1: 66,685,746 (GRCm39)	N2290S	possibly damaging	Het
Ush2a	T	C	1: 188,679,276 (GRCm39)	V4828A	possibly damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wnt9b	C	A	11: 103,622,875 (GRCm39)	S176I	possibly damaging	Het
Zfp329	A	G	7: 12,540,453 (GRCm39)		probably benign	Het
Zfp352	T	A	4: 90,112,697 (GRCm39)	V279D	probably damaging	Het
Zfp932	C	T	5: 110,157,501 (GRCm39)	Q400*	probably null	Het
Zxdc	T	A	6: 90,359,075 (GRCm39)	L569Q	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
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
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'- AGATGCTCAGGAAGTCGCAC -3'
(R):5'- TTCTTGTGCTGGCAATCCG -3'

Sequencing Primer
(F):5'- CCAGCAACTGAATATGATGGAGTCC -3'
(R):5'- GCAATCCGTGGCTCTCAG -3'

Posted On

2016-07-06