Mutagenetix > Incidental Mutation

Incidental Mutation 'R6236:Cts6'

504957

Institutional Source

Beutler Lab

Gene Symbol

Cts6

Ensembl Gene

ENSMUSG00000021441

Gene Name

cathepsin 6

Synonyms

1600022N02Rik

MMRRC Submission

044400-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6236 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61342961-61351206 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 61344192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 287 (E287*)

Ref Sequence

ENSEMBL: ENSMUSP00000021890 (fasta)

Gene Model

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

AlphaFold

Q9ET52

Predicted Effect

probably null
Transcript: ENSMUST00000021890
AA Change: E287*

SMART Domains

Protein: ENSMUSP00000021890
Gene: ENSMUSG00000021441
AA Change: E287*

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

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	A	G	4: 155,989,664 (GRCm39)	T703A	possibly damaging	Het
Acd	C	T	8: 106,427,127 (GRCm39)	A49T	probably benign	Het
Acer1	T	A	17: 57,262,231 (GRCm39)	I224F	probably benign	Het
Acvr1	T	C	2: 58,367,678 (GRCm39)	D161G	probably benign	Het
Catsper4	T	C	4: 133,948,887 (GRCm39)	I111V	probably benign	Het
Cfap210	A	C	2: 69,588,385 (GRCm39)		probably null	Het
Chst14	T	A	2: 118,757,997 (GRCm39)	C264S	probably damaging	Het
Clnk	T	C	5: 38,870,542 (GRCm39)	T339A	probably benign	Het
Cnot4	T	C	6: 35,045,608 (GRCm39)	K201R	probably benign	Het
Col19a1	A	G	1: 24,319,030 (GRCm39)	V1020A	probably damaging	Het
Dbf4	T	C	5: 8,448,579 (GRCm39)		probably benign	Het
Diaph3	G	A	14: 87,275,004 (GRCm39)	R140*	probably null	Het
Faah	T	C	4: 115,856,786 (GRCm39)	I459V	probably benign	Het
Fbxw2	A	T	2: 34,712,845 (GRCm39)	L72H	probably damaging	Het
Fstl4	G	A	11: 53,077,162 (GRCm39)	G640S	probably benign	Het
Gabrb1	C	T	5: 72,265,663 (GRCm39)	T186M	probably damaging	Het
Gata2	T	C	6: 88,179,548 (GRCm39)		probably null	Het
Ifi203	A	G	1: 173,761,479 (GRCm39)	V190A	probably benign	Het
Kdm3a	T	C	6: 71,588,641 (GRCm39)	E456G	probably benign	Het
Kl	A	T	5: 150,876,755 (GRCm39)	T192S	probably damaging	Het
Klhl3	G	A	13: 58,232,876 (GRCm39)	A77V	probably damaging	Het
Klri2	A	G	6: 129,715,858 (GRCm39)	F114L	probably benign	Het
Lonp2	A	T	8: 87,363,215 (GRCm39)	R278*	probably null	Het
Lrp5	A	T	19: 3,680,483 (GRCm39)		probably null	Het
Med13	T	A	11: 86,219,357 (GRCm39)	H363L	probably damaging	Het
Metap1d	T	G	2: 71,346,022 (GRCm39)	F194L	probably benign	Het
Misp	A	G	10: 79,662,956 (GRCm39)	K458E	probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Myh2	A	G	11: 67,081,157 (GRCm39)	T1258A	probably benign	Het
Nipbl	T	A	15: 8,354,064 (GRCm39)	D1691V	possibly damaging	Het
Nr1i2	C	T	16: 38,086,300 (GRCm39)	C55Y	probably damaging	Het
Or11h7	T	C	14: 50,891,257 (GRCm39)	S188P	probably damaging	Het
Or7g21	A	T	9: 19,032,409 (GRCm39)	I50F	possibly damaging	Het
Pcdhgb4	T	C	18: 37,854,345 (GRCm39)	Y247H	probably damaging	Het
Prmt6	T	C	3: 110,157,214 (GRCm39)	I358M	probably benign	Het
Ric1	T	A	19: 29,572,826 (GRCm39)	D755E	possibly damaging	Het
Sez6l	G	T	5: 112,623,110 (GRCm39)	T147K	possibly damaging	Het
Ski	A	G	4: 155,244,001 (GRCm39)	F451S	probably benign	Het
Slc45a2	C	T	15: 11,022,158 (GRCm39)	T300I	probably benign	Het
Smarca2	T	C	19: 26,673,613 (GRCm39)	V1050A	probably benign	Het
Spag1	T	C	15: 36,211,281 (GRCm39)	S476P	probably damaging	Het
Sptbn2	T	A	19: 4,798,166 (GRCm39)	S1964T	probably benign	Het
Sucla2	T	A	14: 73,831,190 (GRCm39)	D434E	probably benign	Het
Tbl3	G	A	17: 24,919,717 (GRCm39)	T779I	probably benign	Het
Tlr2	T	A	3: 83,745,438 (GRCm39)	E215V	probably benign	Het
Tomm40	G	A	7: 19,437,281 (GRCm39)	P227S	probably benign	Het
Tpp2	T	A	1: 44,016,477 (GRCm39)	S711T	probably benign	Het
Traj32	T	A	14: 54,423,565 (GRCm39)	Y2*	probably null	Het
Trim34b	A	G	7: 103,985,525 (GRCm39)	R387G	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Usp5	T	C	6: 124,795,441 (GRCm39)	T651A	probably benign	Het
Vmn1r188	T	C	13: 22,272,414 (GRCm39)	S123P	probably damaging	Het
Zdhhc14	T	C	17: 5,543,918 (GRCm39)	L66P	probably damaging	Het
Zfp712	C	T	13: 67,188,685 (GRCm39)	C614Y	probably damaging	Het
Zfp827	A	G	8: 79,797,105 (GRCm39)	K397R	probably 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
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
R8283:Cts6	UTSW	13	61,349,457 (GRCm39)	missense	probably damaging	0.99
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'- CAATTACTGACTGCAACGGGC -3'
(R):5'- GGTTCTAAGGACTCATCTCATGTC -3'

Sequencing Primer
(F):5'- GCAACGGGCAATTTTGTCATG -3'
(R):5'- GTTTTGTGAGGCTTTATACATGTTAG -3'

Posted On

2018-02-28