Mutagenetix > Incidental Mutation

Incidental Mutation 'R6428:Cts6'

518398

Institutional Source

Beutler Lab

Gene Symbol

Cts6

Ensembl Gene

ENSMUSG00000021441

Gene Name

cathepsin 6

Synonyms

1600022N02Rik

MMRRC Submission

044421-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6428 (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 G at 61344237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 272 (N272H)

Ref Sequence

ENSEMBL: ENSMUSP00000021890 (fasta)

Gene Model

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

AlphaFold

Q9ET52

Predicted Effect

probably damaging
Transcript: ENSMUST00000021890
AA Change: N272H

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021890
Gene: ENSMUSG00000021441
AA Change: N272H

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,420,300 (GRCm39)		probably benign	Het
Daam2	C	T	17: 49,776,404 (GRCm39)	E828K	probably damaging	Het
Dhx9	C	T	1: 153,332,324 (GRCm39)		probably benign	Het
Glb1l3	T	C	9: 26,770,748 (GRCm39)	N106S	probably damaging	Het
Hdlbp	T	C	1: 93,359,167 (GRCm39)	D175G	possibly damaging	Het
Hectd4	A	G	5: 121,488,508 (GRCm39)	K3600E	possibly damaging	Het
Hspa13	A	T	16: 75,554,874 (GRCm39)	L404Q	probably damaging	Het
Iws1	A	G	18: 32,219,343 (GRCm39)	D475G	probably damaging	Het
Klhdc10	T	C	6: 30,439,855 (GRCm39)	S13P	probably damaging	Het
Lepr	C	T	4: 101,637,295 (GRCm39)	T728I	probably damaging	Het
Ncapd3	A	G	9: 26,963,960 (GRCm39)		probably null	Het
Pasd1	CATCTTTACCATCATGTCAAGTATCTTTACCATCATGTCAAGTATCTTTACC	CATCTTTACCATCATGTCAAGTATCTTTACC	X: 70,983,126 (GRCm39)		probably benign	Homo
Phb2	A	G	6: 124,692,954 (GRCm39)	D276G	probably benign	Het
Prrc2b	A	G	2: 32,116,508 (GRCm39)		probably null	Het
Rasgrf2	T	C	13: 92,136,100 (GRCm39)	K604R	probably damaging	Het
Rp1l1	T	A	14: 64,269,838 (GRCm39)	M1808K	possibly damaging	Het
Setd3	T	C	12: 108,079,597 (GRCm39)	D302G	probably damaging	Het
Slc38a10	T	A	11: 119,996,298 (GRCm39)	Q933L	probably benign	Het
Slco1a1	A	G	6: 141,871,416 (GRCm39)	L250S	probably damaging	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Vmn2r26	A	G	6: 124,003,039 (GRCm39)	I150V	probably benign	Het
Zfp318	C	T	17: 46,710,262 (GRCm39)	R662C	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
R6236:Cts6	UTSW	13	61,344,192 (GRCm39)	nonsense	probably null
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'- AATTACTGACTGCAACGGGC -3'
(R):5'- AAGGTTCTAAGGACTCATCTCATG -3'

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

Posted On

2018-05-24