Mutagenetix > Incidental Mutation

Incidental Mutation 'R2235:Cts6'

240410

Institutional Source

Beutler Lab

Gene Symbol

Cts6

Ensembl Gene

ENSMUSG00000021441

Gene Name

cathepsin 6

Synonyms

1600022N02Rik

MMRRC Submission

040236-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2235 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61342961-61351206 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61343247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 325 (I325F)

Ref Sequence

ENSEMBL: ENSMUSP00000021890 (fasta)

Gene Model

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

AlphaFold

Q9ET52

Predicted Effect

probably damaging
Transcript: ENSMUST00000021890
AA Change: I325F

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

SMART Domains

Protein: ENSMUSP00000021890
Gene: ENSMUSG00000021441
AA Change: I325F

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,619,023 (GRCm39)	V256A	probably benign	Het
Acbd6	A	G	1: 155,434,454 (GRCm39)	D24G	probably damaging	Het
Adcy2	A	T	13: 68,816,611 (GRCm39)	Y792N	probably damaging	Het
Alpk1	T	C	3: 127,474,569 (GRCm39)	K478R	probably benign	Het
Atad2b	T	G	12: 5,056,745 (GRCm39)	F867C	probably damaging	Het
Bach1	A	G	16: 87,517,001 (GRCm39)	D514G	probably damaging	Het
BC035947	A	T	1: 78,474,599 (GRCm39)	D644E	probably damaging	Het
Chrm4	A	G	2: 91,758,875 (GRCm39)	S428G	probably benign	Het
Clca3a1	G	T	3: 144,714,829 (GRCm39)	P596Q	possibly damaging	Het
Cldn34b3	A	T	X: 75,310,830 (GRCm39)	I133F	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crh	A	T	3: 19,748,096 (GRCm39)	M182K	probably damaging	Het
Csta1	C	T	16: 35,945,445 (GRCm39)	V23I	probably damaging	Het
Dnah6	T	C	6: 73,077,068 (GRCm39)	D2347G	probably damaging	Het
Dync1i2	C	T	2: 71,079,764 (GRCm39)	Q419*	probably null	Het
E2f4	T	A	8: 106,025,283 (GRCm39)	V121E	probably damaging	Het
Fhip1a	A	T	3: 85,568,408 (GRCm39)	L1037Q	probably damaging	Het
Fndc11	A	G	2: 180,864,067 (GRCm39)	S291G	possibly damaging	Het
Hid1	A	G	11: 115,241,945 (GRCm39)	I555T	probably damaging	Het
Hyou1	C	T	9: 44,300,388 (GRCm39)	T855M	probably benign	Het
Igf1r	T	A	7: 67,861,828 (GRCm39)	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,130,062 (GRCm39)	E34G	probably damaging	Het
Itprid1	A	T	6: 55,874,797 (GRCm39)	H249L	possibly damaging	Het
Kcnab1	T	A	3: 65,226,888 (GRCm39)	V189D	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrrc49	A	T	9: 60,505,440 (GRCm39)	F538L	possibly damaging	Het
Ly6h	A	G	15: 75,437,038 (GRCm39)	S113P	probably benign	Het
Mto1	A	C	9: 78,364,846 (GRCm39)	T362P	possibly damaging	Het
Myot	A	G	18: 44,487,339 (GRCm39)	D392G	probably damaging	Het
Or10a3	A	G	7: 108,480,172 (GRCm39)	F214L	probably benign	Het
Or6z5	T	C	7: 6,477,441 (GRCm39)	S111P	possibly damaging	Het
Osbpl6	T	C	2: 76,417,113 (GRCm39)	F577L	probably damaging	Het
Otc	A	G	X: 10,169,606 (GRCm39)	Q216R	probably benign	Het
Pds5a	A	T	5: 65,811,441 (GRCm39)	F331I	probably damaging	Het
Pld3	G	A	7: 27,240,532 (GRCm39)	T136M	probably benign	Het
Prph2	A	T	17: 47,222,092 (GRCm39)	D157V	probably damaging	Het
Racgap1	A	G	15: 99,524,417 (GRCm39)	S357P	probably benign	Het
Ralgapa1	A	T	12: 55,763,856 (GRCm39)	H1403Q	probably benign	Het
Rnf216	G	A	5: 143,076,681 (GRCm39)	H68Y	probably benign	Het
Scgb1b27	T	C	7: 33,721,249 (GRCm39)	Y46H	probably damaging	Het
Sel1l2	T	C	2: 140,086,085 (GRCm39)	Y502C	probably damaging	Het
Sis	A	T	3: 72,820,527 (GRCm39)	F1412L	probably benign	Het
Slc4a11	T	C	2: 130,527,544 (GRCm39)	E617G	probably benign	Het
Smap1	T	C	1: 23,898,139 (GRCm39)	N99S	probably benign	Het
Smg7	A	T	1: 152,744,064 (GRCm39)	Y40N	probably damaging	Het
Sox4	C	T	13: 29,136,613 (GRCm39)	R131Q	probably damaging	Het
Spaca6	T	C	17: 18,058,507 (GRCm39)		probably null	Het
Tbx18	G	T	9: 87,606,403 (GRCm39)	S247R	probably damaging	Het
Tenm3	T	C	8: 48,729,204 (GRCm39)	I1601V	probably benign	Het
Thap4	G	T	1: 93,652,934 (GRCm39)	Q441K	probably benign	Het
Tmprss11c	G	T	5: 86,429,945 (GRCm39)	T40K	probably benign	Het
Tpr	T	A	1: 150,317,843 (GRCm39)	F2117Y	probably benign	Het
Traf5	T	C	1: 191,738,806 (GRCm39)	M125V	probably damaging	Het
Trim65	G	T	11: 116,021,503 (GRCm39)	T110K	possibly damaging	Het
Ubp1	T	G	9: 113,793,712 (GRCm39)	S340R	probably damaging	Het
Vit	T	C	17: 78,912,867 (GRCm39)	S267P	probably benign	Het
Vmn2r124	A	T	17: 18,269,927 (GRCm39)	H61L	possibly damaging	Het
Zfp990	T	A	4: 145,264,461 (GRCm39)	H486Q	probably damaging	Het
Zkscan6	T	C	11: 65,719,098 (GRCm39)	S373P	probably benign	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
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
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'- TGCATTACTGAAGAGCAACCC -3'
(R):5'- AGTAATCAAAGTAGACCCTCTTCC -3'

Sequencing Primer
(F):5'- GTTTGACCACAAAAATTCACTAGAG -3'
(R):5'- CCTTTTCTGATACTTCTGTGAAGG -3'

Posted On

2014-10-15