Mutagenetix > Incidental Mutation

Incidental Mutation 'R5157:Ctsq'

396796

Institutional Source

Beutler Lab

Gene Symbol

Ctsq

Ensembl Gene

ENSMUSG00000021439

Gene Name

cathepsin Q

Synonyms

1600010J02Rik

MMRRC Submission

042739-MU

Accession Numbers

Essential gene?

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

Stock #

R5157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61182852-61188411 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61184913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 258 (T258A)

Ref Sequence

ENSEMBL: ENSMUSP00000021888 (fasta)

Gene Model

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

AlphaFold

Q91ZF4

Predicted Effect

probably benign
Transcript: ENSMUST00000021888
AA Change: T258A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021888
Gene: ENSMUSG00000021439
AA Change: T258A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (57/57)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,627,096 (GRCm39)	R1266C	probably damaging	Het
Adap2	T	C	11: 80,047,772 (GRCm39)	F76S	probably damaging	Het
Adgb	T	A	10: 10,274,710 (GRCm39)	H747L	probably damaging	Het
Aox1	T	A	1: 58,109,222 (GRCm39)	V670D	probably damaging	Het
Ap4e1	A	G	2: 126,903,615 (GRCm39)	D839G	probably benign	Het
Arhgef11	T	A	3: 87,635,817 (GRCm39)		probably null	Het
AY074887	T	C	9: 54,858,102 (GRCm39)		probably benign	Het
Bicd1	C	G	6: 149,421,912 (GRCm39)	Q878E	probably benign	Het
Catspere1	A	T	1: 177,707,348 (GRCm39)		noncoding transcript	Het
Cnmd	T	C	14: 79,894,126 (GRCm39)	Q87R	probably benign	Het
Col24a1	G	T	3: 145,051,712 (GRCm39)	G661*	probably null	Het
Crtap	G	A	9: 114,213,860 (GRCm39)	L232F	probably damaging	Het
Cyp2d26	T	C	15: 82,675,190 (GRCm39)	Q388R	probably benign	Het
Ddb1	A	T	19: 10,599,728 (GRCm39)	T646S	probably benign	Het
Dnah6	G	T	6: 73,172,617 (GRCm39)	S280R	probably benign	Het
Dzank1	T	C	2: 144,325,332 (GRCm39)	H545R	probably damaging	Het
Ehhadh	T	A	16: 21,585,261 (GRCm39)	M207L	probably benign	Het
Elmo2	T	A	2: 165,133,627 (GRCm39)		probably benign	Het
Golga3	G	A	5: 110,350,537 (GRCm39)	A731T	probably benign	Het
Igsf21	T	C	4: 139,755,378 (GRCm39)	T426A	possibly damaging	Het
Kcnf1	T	C	12: 17,224,742 (GRCm39)	E493G	probably benign	Het
Lmna	A	T	3: 88,391,414 (GRCm39)	D364E	probably damaging	Het
Lsr	T	C	7: 30,665,465 (GRCm39)	Y163C	probably damaging	Het
Map3k20	A	T	2: 72,268,558 (GRCm39)	T522S	probably benign	Het
Mroh9	C	A	1: 162,871,690 (GRCm39)	A598S	probably damaging	Het
Msln	T	C	17: 25,971,957 (GRCm39)	M87V	probably benign	Het
Or14c39	A	G	7: 86,344,440 (GRCm39)	K259E	probably benign	Het
Or1e26	T	C	11: 73,480,549 (GRCm39)	N5S	probably damaging	Het
Or4a27	T	A	2: 88,559,892 (GRCm39)	Q17L	probably benign	Het
Or5d16	T	A	2: 87,773,232 (GRCm39)	M247L	probably benign	Het
Pals1	T	A	12: 78,867,589 (GRCm39)	M324K	possibly damaging	Het
Plekhg5	T	A	4: 152,192,322 (GRCm39)		probably benign	Het
Pprc1	G	T	19: 46,053,197 (GRCm39)		probably benign	Het
Ptprm	T	A	17: 67,264,092 (GRCm39)	K385I	probably benign	Het
Rfxap	T	A	3: 54,711,938 (GRCm39)	N215I	probably damaging	Het
Slc16a7	A	T	10: 125,069,333 (GRCm39)	Y114*	probably null	Het
Smarcb1	G	T	10: 75,747,628 (GRCm39)		probably benign	Het
Spef2	T	A	15: 9,668,877 (GRCm39)	R770*	probably null	Het
Stard9	A	T	2: 120,528,342 (GRCm39)	Y1533F	probably benign	Het
Tbcd	A	T	11: 121,500,853 (GRCm39)	Y1142F	probably benign	Het
Trappc2b	A	T	11: 51,576,893 (GRCm39)	S2T	probably benign	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Uba7	G	A	9: 107,857,246 (GRCm39)	V703I	probably benign	Het
Upb1	T	C	10: 75,248,638 (GRCm39)	S53P	possibly damaging	Het
Zfp672	A	G	11: 58,207,677 (GRCm39)	S215P	possibly damaging	Het
Zfp978	T	A	4: 147,475,437 (GRCm39)	L328H	probably 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
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
R5595:Ctsq	UTSW	13	61,184,874 (GRCm39)	missense	probably benign	0.41
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

2016-06-21