Mutagenetix > Incidental Mutation

Incidental Mutation 'R8283:Cts6'

638333

Institutional Source

Beutler Lab

Gene Symbol

Cts6

Ensembl Gene

ENSMUSG00000021441

Gene Name

cathepsin 6

Synonyms

1600022N02Rik

MMRRC Submission

067706-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8283 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61342961-61351206 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61349457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 84 (T84A)

Ref Sequence

ENSEMBL: ENSMUSP00000021890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021890]

AlphaFold

Q9ET52

Predicted Effect

probably damaging
Transcript: ENSMUST00000021890
AA Change: T84A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021890
Gene: ENSMUSG00000021441
AA Change: T84A

Domain	Start	End	E-Value	Type
Inhibitor_I29	29	88	3.17e-22	SMART
Pept_C1	115	333	9.61e-111	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,856,086 (GRCm39)	P65S	probably damaging	Het
Adcy3	A	T	12: 4,250,935 (GRCm39)	R565W	probably damaging	Het
Arl14	A	T	3: 69,129,868 (GRCm39)	N5I	probably benign	Het
Arl6ip6	A	G	2: 53,082,250 (GRCm39)	E39G	possibly damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Axl	C	T	7: 25,463,379 (GRCm39)	D633N	probably benign	Het
Boc	A	T	16: 44,340,800 (GRCm39)	L50Q	noncoding transcript	Het
Calml3	A	G	13: 3,854,097 (GRCm39)	V36A	probably damaging	Het
Ccdc183	G	A	2: 25,502,160 (GRCm39)	A238V	probably damaging	Het
Ccndbp1	A	G	2: 120,839,065 (GRCm39)		probably benign	Het
Ccr9	A	G	9: 123,608,696 (GRCm39)	Y126C	probably damaging	Het
Cdhr1	T	C	14: 36,804,737 (GRCm39)	N491S	probably benign	Het
Celsr2	C	T	3: 108,303,771 (GRCm39)	G2429D	probably damaging	Het
Dcpp2	T	C	17: 24,118,384 (GRCm39)		probably null	Het
Drosha	A	G	15: 12,890,587 (GRCm39)	I945V	possibly damaging	Het
Dsg1b	A	G	18: 20,524,963 (GRCm39)	Q133R	probably benign	Het
Enpp1	T	A	10: 24,550,554 (GRCm39)	E174D	probably benign	Het
Esrrb	A	G	12: 86,468,732 (GRCm39)	H15R	probably benign	Het
Fbxl12	T	C	9: 20,550,017 (GRCm39)	T213A	probably benign	Het
Fnbp4	C	A	2: 90,577,115 (GRCm39)	T149K	probably damaging	Het
Foxj1	A	T	11: 116,224,893 (GRCm39)	F158Y	probably benign	Het
Frrs1	A	G	3: 116,671,952 (GRCm39)	T17A	probably benign	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm45844	T	C	7: 7,244,901 (GRCm39)	Y11C	possibly damaging	Het
Hnrnpl	T	C	7: 28,513,697 (GRCm39)	V220A		Het
Iars2	T	A	1: 185,020,288 (GRCm39)	R949*	probably null	Het
Ice1	T	C	13: 70,752,549 (GRCm39)	E1179G	probably damaging	Het
Mast4	A	G	13: 102,895,177 (GRCm39)	L782P	probably damaging	Het
Mcmdc2	A	C	1: 10,004,263 (GRCm39)	K581T	possibly damaging	Het
Men1	A	T	19: 6,386,848 (GRCm39)	D186V	probably damaging	Het
Morc2b	T	G	17: 33,355,675 (GRCm39)	N699T	probably benign	Het
Mrgpra2b	A	G	7: 47,114,465 (GRCm39)	L89P	probably damaging	Het
Naip1	C	T	13: 100,563,695 (GRCm39)	G490E	probably damaging	Het
Ntm	T	C	9: 28,923,508 (GRCm39)	Y224C	probably damaging	Het
Nup88	A	T	11: 70,849,166 (GRCm39)	D262E	probably benign	Het
Or10ag52	T	C	2: 87,043,683 (GRCm39)	V149A	probably benign	Het
Or51l4	T	A	7: 103,404,019 (GRCm39)	I258L	possibly damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Oscp1	A	G	4: 125,980,393 (GRCm39)	M293V	probably benign	Het
Pcdhgc3	C	A	18: 37,940,694 (GRCm39)	A365D	probably damaging	Het
Pcyt2	A	T	11: 120,501,548 (GRCm39)	F388I	probably benign	Het
Pgm2l1	C	G	7: 99,902,460 (GRCm39)	A136G	probably benign	Het
Phf14	T	G	6: 11,987,636 (GRCm39)	D638E	probably benign	Het
Pnpla7	A	G	2: 24,940,935 (GRCm39)	K1096E	probably damaging	Het
Prkcb	T	A	7: 122,199,948 (GRCm39)	C586*	probably null	Het
Rnf187	T	A	11: 58,829,241 (GRCm39)	R124W	probably damaging	Het
Sema3a	T	C	5: 13,450,030 (GRCm39)	Y36H	probably damaging	Het
Setd7	T	G	3: 51,428,796 (GRCm39)	S345R	probably benign	Het
Sgms1	T	C	19: 32,137,035 (GRCm39)	D177G	probably damaging	Het
Snx19	T	C	9: 30,374,522 (GRCm39)	L927S	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sorl1	T	C	9: 41,942,294 (GRCm39)	D977G	probably damaging	Het
Sptan1	C	T	2: 29,870,212 (GRCm39)	R121W	probably damaging	Het
Srgap2	T	C	1: 131,291,771 (GRCm39)	D152G	probably damaging	Het
Suclg2	T	A	6: 95,474,700 (GRCm39)		probably null	Het
Tacc2	T	C	7: 130,227,034 (GRCm39)	S1240P	probably benign	Het
Tbc1d12	C	T	19: 38,825,353 (GRCm39)	A68V	probably benign	Het
Tex14	G	A	11: 87,365,241 (GRCm39)	D62N	probably damaging	Het
Thyn1	C	T	9: 26,918,155 (GRCm39)	T181I	probably benign	Het
Trio	T	A	15: 27,756,628 (GRCm39)	H2056L	possibly damaging	Het
Ubn2	T	A	6: 38,475,663 (GRCm39)	L1207Q	probably damaging	Het
Usp17lb	T	C	7: 104,490,013 (GRCm39)	S305G	probably damaging	Het
Vmn2r101	T	A	17: 19,832,253 (GRCm39)	Y750N	probably damaging	Het
Wif1	G	A	10: 120,931,952 (GRCm39)	S292N	probably benign	Het
Xpo6	T	G	7: 125,727,421 (GRCm39)	Q528H	possibly damaging	Het

Other mutations in Cts6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Cts6	APN	13	61,346,153 (GRCm39)	splice site	probably benign
IGL00774:Cts6	APN	13	61,346,153 (GRCm39)	splice site	probably benign
IGL02237:Cts6	APN	13	61,345,313 (GRCm39)	missense	probably benign	0.01
IGL03071:Cts6	APN	13	61,350,064 (GRCm39)	missense	probably damaging	0.97
IGL03224:Cts6	APN	13	61,349,547 (GRCm39)	missense	probably damaging	1.00
IGL03282:Cts6	APN	13	61,344,261 (GRCm39)	missense	possibly damaging	0.56
R0086:Cts6	UTSW	13	61,344,271 (GRCm39)	splice site	probably benign
R0201:Cts6	UTSW	13	61,349,313 (GRCm39)	nonsense	probably null
R0238:Cts6	UTSW	13	61,349,633 (GRCm39)	missense	probably damaging	1.00
R0238:Cts6	UTSW	13	61,349,633 (GRCm39)	missense	probably damaging	1.00
R0401:Cts6	UTSW	13	61,346,153 (GRCm39)	splice site	probably benign
R0676:Cts6	UTSW	13	61,345,298 (GRCm39)	splice site	probably benign
R1471:Cts6	UTSW	13	61,344,194 (GRCm39)	missense	probably benign	0.00
R1594:Cts6	UTSW	13	61,346,181 (GRCm39)	missense	probably damaging	1.00
R1864:Cts6	UTSW	13	61,349,393 (GRCm39)	missense	probably benign	0.26
R1865:Cts6	UTSW	13	61,349,393 (GRCm39)	missense	probably benign	0.26
R1902:Cts6	UTSW	13	61,349,329 (GRCm39)	nonsense	probably null
R2097:Cts6	UTSW	13	61,343,259 (GRCm39)	missense	probably damaging	1.00
R2235:Cts6	UTSW	13	61,343,247 (GRCm39)	missense	probably damaging	1.00
R2829:Cts6	UTSW	13	61,349,311 (GRCm39)	missense	probably benign	0.01
R2910:Cts6	UTSW	13	61,344,215 (GRCm39)	missense	probably damaging	1.00
R3757:Cts6	UTSW	13	61,349,972 (GRCm39)	nonsense	probably null
R4460:Cts6	UTSW	13	61,343,272 (GRCm39)	missense	probably benign	0.25
R4553:Cts6	UTSW	13	61,345,407 (GRCm39)	missense	probably damaging	1.00
R4623:Cts6	UTSW	13	61,349,974 (GRCm39)	missense	possibly damaging	0.57
R4793:Cts6	UTSW	13	61,349,626 (GRCm39)	missense	probably benign	0.00
R4809:Cts6	UTSW	13	61,349,995 (GRCm39)	missense	probably damaging	1.00
R4849:Cts6	UTSW	13	61,349,415 (GRCm39)	missense	probably null
R4866:Cts6	UTSW	13	61,350,090 (GRCm39)	critical splice acceptor site	probably null
R5055:Cts6	UTSW	13	61,344,164 (GRCm39)	missense	probably damaging	1.00
R5590:Cts6	UTSW	13	61,349,626 (GRCm39)	missense	probably benign	0.00
R6236:Cts6	UTSW	13	61,344,192 (GRCm39)	nonsense	probably null
R6428:Cts6	UTSW	13	61,344,237 (GRCm39)	missense	probably damaging	0.96
R6501:Cts6	UTSW	13	61,344,149 (GRCm39)	missense	probably damaging	1.00
R6508:Cts6	UTSW	13	61,344,221 (GRCm39)	missense	probably damaging	1.00
R6643:Cts6	UTSW	13	61,349,607 (GRCm39)	missense	probably damaging	0.96
R7397:Cts6	UTSW	13	61,350,014 (GRCm39)	missense	possibly damaging	0.94
R8329:Cts6	UTSW	13	61,343,282 (GRCm39)	missense	probably damaging	1.00
R9009:Cts6	UTSW	13	61,344,261 (GRCm39)	missense	probably benign	0.04
R9438:Cts6	UTSW	13	61,350,069 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGACTTCTGACACTGTTATACCTG -3'
(R):5'- ACCTGCAAGACTACCTGCAG -3'

Sequencing Primer
(F):5'- GTCTCCGTACTCGAGTCACATAG -3'
(R):5'- TACCTTCATTTCTAGGAGGAAGAAGG -3'

Posted On

2020-07-28