Mutagenetix > Incidental Mutation

Incidental Mutation 'R5595:Ctsq'

437794

Institutional Source

Beutler Lab

Gene Symbol

Ctsq

Ensembl Gene

ENSMUSG00000021439

Gene Name

cathepsin Q

Synonyms

1600010J02Rik

MMRRC Submission

043147-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5595 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61182852-61188411 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 61184874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 271 (D271Y)

Ref Sequence

ENSEMBL: ENSMUSP00000021888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021888]

AlphaFold

Q91ZF4

Predicted Effect

probably benign
Transcript: ENSMUST00000021888
AA Change: D271Y

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021888
Gene: ENSMUSG00000021439
AA Change: D271Y

Domain	Start	End	E-Value	Type
Inhibitor_I29	29	88	3.76e-24	SMART
Pept_C1	125	342	3.46e-103	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144401

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,682,143 (GRCm39)	F991S	probably benign	Het
4931406B18Rik	A	G	7: 43,147,296 (GRCm39)	I218T	possibly damaging	Het
9930111J21Rik2	C	T	11: 48,910,538 (GRCm39)	A632T	possibly damaging	Het
Akt1	A	T	12: 112,625,050 (GRCm39)	L166Q	probably null	Het
Alpk2	A	T	18: 65,399,319 (GRCm39)	D2086E	probably damaging	Het
Ankrd11	A	T	8: 123,621,043 (GRCm39)	C915*	probably null	Het
Ankrd44	T	C	1: 54,801,506 (GRCm39)	T274A	probably damaging	Het
Ankrd44	A	T	1: 54,774,209 (GRCm39)	I398K	probably damaging	Het
Arhgef2	A	G	3: 88,550,283 (GRCm39)	T663A	probably benign	Het
Btbd16	G	A	7: 130,425,033 (GRCm39)	M471I	possibly damaging	Het
Btbd16	C	A	7: 130,425,034 (GRCm39)	Q472K	probably damaging	Het
Cdc37	G	A	9: 21,054,509 (GRCm39)	R39C	probably damaging	Het
Cnnm1	A	G	19: 43,453,596 (GRCm39)	N537S	possibly damaging	Het
Cop1	T	A	1: 159,077,643 (GRCm39)	D159E	probably benign	Het
Crtac1	C	T	19: 42,402,390 (GRCm39)	V73I	probably benign	Het
Cryz	T	A	3: 154,312,155 (GRCm39)	V84E	probably damaging	Het
Ctnnd2	C	T	15: 30,669,689 (GRCm39)	L433F	probably benign	Het
Cyp3a25	A	C	5: 145,931,673 (GRCm39)		probably null	Het
Dmbt1	G	C	7: 130,655,797 (GRCm39)	W412C	probably benign	Het
Eif4e1b	G	A	13: 54,934,529 (GRCm39)	V131I	possibly damaging	Het
Epha1	A	G	6: 42,341,568 (GRCm39)	V494A	possibly damaging	Het
Fbxl4	T	C	4: 22,433,641 (GRCm39)	S593P	probably damaging	Het
Fbxo41	G	A	6: 85,456,883 (GRCm39)	P429S	probably benign	Het
Fem1al	T	C	11: 29,774,288 (GRCm39)	N390D	probably benign	Het
Fgfr3	G	A	5: 33,887,347 (GRCm39)	C204Y	probably damaging	Het
Gbf1	T	C	19: 46,272,861 (GRCm39)	V1665A	possibly damaging	Het
Htt	T	A	5: 35,062,741 (GRCm39)	V2825E	probably damaging	Het
Irs1	A	T	1: 82,267,646 (GRCm39)	V190E	probably damaging	Het
Kics2	T	C	10: 121,576,052 (GRCm39)		probably benign	Het
Klk1	T	C	7: 43,878,161 (GRCm39)		probably null	Het
Kmt2d	T	C	15: 98,747,905 (GRCm39)		probably benign	Het
Meox1	T	C	11: 101,770,169 (GRCm39)	E186G	probably damaging	Het
Micu2	G	A	14: 58,209,201 (GRCm39)	R86W	probably damaging	Het
Mrgprb1	A	T	7: 48,097,432 (GRCm39)	I160K	probably damaging	Het
Nckap1l	T	A	15: 103,384,085 (GRCm39)	M561K	possibly damaging	Het
Or4c104	A	T	2: 88,586,749 (GRCm39)	I90N	probably damaging	Het
Or52s6	A	T	7: 103,091,635 (GRCm39)	S232T	probably damaging	Het
Or56b35	A	T	7: 104,963,213 (GRCm39)	M1L	probably benign	Het
Otoa	T	A	7: 120,721,200 (GRCm39)	L405H	probably damaging	Het
Phyhip	A	T	14: 70,704,314 (GRCm39)	M178L	probably benign	Het
Pkd1l3	A	T	8: 110,382,152 (GRCm39)	N1630I	probably damaging	Het
Plek2	T	A	12: 78,940,883 (GRCm39)	T247S	probably benign	Het
Rhbdl3	T	C	11: 80,228,409 (GRCm39)	V293A	probably damaging	Het
Rock2	T	A	12: 16,992,810 (GRCm39)	F193Y	probably damaging	Het
Scn3a	C	T	2: 65,291,057 (GRCm39)	M1896I	probably benign	Het
Snrnp200	T	C	2: 127,067,933 (GRCm39)	V810A	probably damaging	Het
Taar4	G	A	10: 23,836,639 (GRCm39)	S83N	probably damaging	Het
Tdpoz4	A	T	3: 93,704,806 (GRCm39)	T368S	probably benign	Het
Tec	T	A	5: 72,926,087 (GRCm39)	I322F	possibly damaging	Het
Teddm2	T	C	1: 153,726,146 (GRCm39)	I190V	probably benign	Het
Tmem117	A	G	15: 94,992,765 (GRCm39)	E475G	probably damaging	Het
Trip10	T	A	17: 57,569,460 (GRCm39)	Y495N	probably damaging	Het
Ush2a	T	C	1: 188,638,695 (GRCm39)	V4035A	possibly damaging	Het
Utrn	C	T	10: 12,558,062 (GRCm39)	V1466M	possibly damaging	Het
Vasp	A	G	7: 18,991,816 (GRCm39)		probably benign	Het
Vmn1r89	A	T	7: 12,953,857 (GRCm39)	M130L	possibly damaging	Het
Vmn2r2	A	T	3: 64,034,036 (GRCm39)	D495E	possibly damaging	Het
Zfp213	A	G	17: 23,780,160 (GRCm39)	V120A	possibly damaging	Het

Other mutations in Ctsq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Ctsq	APN	13	61,185,528 (GRCm39)	missense	probably damaging	0.96
IGL00585:Ctsq	APN	13	61,184,941 (GRCm39)	missense	probably benign	0.00
IGL00743:Ctsq	APN	13	61,183,998 (GRCm39)	missense	probably damaging	1.00
IGL00897:Ctsq	APN	13	61,185,539 (GRCm39)	missense	probably damaging	1.00
IGL01679:Ctsq	APN	13	61,186,722 (GRCm39)	missense	probably benign	0.00
IGL01982:Ctsq	APN	13	61,187,335 (GRCm39)	missense	probably benign	0.05
IGL01982:Ctsq	APN	13	61,186,732 (GRCm39)	missense	probably benign
IGL02448:Ctsq	APN	13	61,184,044 (GRCm39)	missense	probably damaging	1.00
R0036:Ctsq	UTSW	13	61,185,485 (GRCm39)	critical splice donor site	probably null
R0036:Ctsq	UTSW	13	61,185,485 (GRCm39)	critical splice donor site	probably null
R0741:Ctsq	UTSW	13	61,184,019 (GRCm39)	missense	probably damaging	0.99
R1192:Ctsq	UTSW	13	61,186,859 (GRCm39)	missense	probably damaging	1.00
R1593:Ctsq	UTSW	13	61,183,986 (GRCm39)	splice site	probably null
R3906:Ctsq	UTSW	13	61,186,585 (GRCm39)	missense	probably damaging	1.00
R4483:Ctsq	UTSW	13	61,186,726 (GRCm39)	missense	probably benign	0.01
R4590:Ctsq	UTSW	13	61,184,028 (GRCm39)	missense	probably benign	0.17
R5157:Ctsq	UTSW	13	61,184,913 (GRCm39)	missense	probably benign	0.00
R5365:Ctsq	UTSW	13	61,185,632 (GRCm39)	missense	possibly damaging	0.95
R5366:Ctsq	UTSW	13	61,184,913 (GRCm39)	missense	probably benign	0.00
R5546:Ctsq	UTSW	13	61,185,702 (GRCm39)	nonsense	probably null
R6046:Ctsq	UTSW	13	61,186,955 (GRCm39)	missense	probably benign	0.00
R6049:Ctsq	UTSW	13	61,186,572 (GRCm39)	critical splice donor site	probably null
R6535:Ctsq	UTSW	13	61,183,140 (GRCm39)	missense	probably damaging	1.00
R6537:Ctsq	UTSW	13	61,183,140 (GRCm39)	missense	probably damaging	1.00
R7159:Ctsq	UTSW	13	61,186,737 (GRCm39)	missense	probably benign	0.00
R8189:Ctsq	UTSW	13	61,184,969 (GRCm39)	missense	probably damaging	1.00
R8890:Ctsq	UTSW	13	61,185,502 (GRCm39)	missense	probably damaging	1.00
Z1176:Ctsq	UTSW	13	61,184,937 (GRCm39)	missense	probably benign	0.01
Z1177:Ctsq	UTSW	13	61,184,910 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATCATGCAGACGTTCATATCAGG -3'
(R):5'- TTCTTCCAGGCTGTAAGTGG -3'

Sequencing Primer
(F):5'- GCAGACGTTCATATCAGGTGAAATTC -3'
(R):5'- TCTTCCAGGCTGTAAGTGGAAGTAAC -3'

Posted On

2016-10-26