Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02448:Ctsq'

293602

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ctsq

Ensembl Gene

ENSMUSG00000021439

Gene Name

cathepsin Q

Synonyms

1600010J02Rik

Accession Numbers

Ncbi RefSeq: NM_029636.3; MGI:2137385

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL02448

Quality Score

Status

Chromosome

Chromosomal Location

61035024-61040631 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61036230 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 293 (Y293N)

Ref Sequence

ENSEMBL: ENSMUSP00000021888 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021888
AA Change: Y293N

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

SMART Domains

Protein: ENSMUSP00000021888
Gene: ENSMUSG00000021439
AA Change: Y293N

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

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl6	T	A	9: 20,875,570	I286F	probably damaging	Het
Arhgap5	A	G	12: 52,562,340	E1366G	probably damaging	Het
Blzf1	T	A	1: 164,295,781	I326F	possibly damaging	Het
Cc2d2a	A	C	5: 43,683,205		probably benign	Het
Cdc37	T	C	9: 21,139,851	E366G	possibly damaging	Het
Cdh17	T	C	4: 11,784,680	S279P	probably benign	Het
Cdh18	T	C	15: 23,173,789	S30P	probably benign	Het
Cep192	A	G	18: 67,869,447	T2238A	probably benign	Het
Cpped1	C	T	16: 11,805,389	E289K	probably benign	Het
Epb41l2	A	G	10: 25,493,595	N20S	possibly damaging	Het
Gcc2	T	A	10: 58,292,571	C1304*	probably null	Het
Hsd3b5	C	T	3: 98,622,131	G61E	probably damaging	Het
Igfals	A	T	17: 24,880,187	N84I	probably damaging	Het
Irs2	A	T	8: 11,007,862	V190D	probably benign	Het
Kank1	T	A	19: 25,411,375	L804Q	probably damaging	Het
Kcnj2	G	T	11: 111,072,282	V167L	probably benign	Het
Kif20a	T	C	18: 34,628,454	V300A	possibly damaging	Het
Kmt2d	T	C	15: 98,844,110		probably benign	Het
Moxd1	T	C	10: 24,282,719	F424L	probably damaging	Het
Mpeg1	A	C	19: 12,462,609	D477A	probably benign	Het
Mtmr10	A	T	7: 64,308,150	Y166F	probably damaging	Het
Muc5b	T	G	7: 141,868,489	I4454S	possibly damaging	Het
Ntng1	G	A	3: 109,934,559		probably benign	Het
Olfr582	T	C	7: 103,042,397	I306T	possibly damaging	Het
Olfr869	T	A	9: 20,137,641	L175*	probably null	Het
Pex11a	A	T	7: 79,737,460		probably null	Het
Plcg2	A	G	8: 117,607,221	D911G	probably benign	Het
Rc3h2	T	C	2: 37,389,805	T471A	probably benign	Het
Rif1	T	A	2: 52,116,696	L2214Q	probably damaging	Het
Rtel1	T	A	2: 181,336,037	S120T	probably benign	Het
Ryr1	A	G	7: 29,105,066		probably benign	Het
Sh3yl1	G	T	12: 30,939,667	A129S	probably damaging	Het
Slc25a10	A	G	11: 120,497,053	T191A	probably benign	Het
Slc8b1	T	C	5: 120,525,791	S359P	probably damaging	Het
Srf	T	C	17: 46,555,423	T136A	possibly damaging	Het
Stx1a	G	T	5: 135,023,619		probably benign	Het
Taf1d	T	A	9: 15,310,394	C224*	probably null	Het
Tnik	A	G	3: 28,621,077	S700G	probably null	Het
Ttn	T	C	2: 76,942,987	H2357R	probably benign	Het
Ttn	T	C	2: 76,736,114	E28145G	probably damaging	Het
Ush1c	C	A	7: 46,209,137	V576F	possibly damaging	Het
Xpc	T	C	6: 91,515,744	E19G	probably benign	Het
Zdhhc25	G	A	15: 88,600,842	V127M	probably damaging	Het

Other mutations in Ctsq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Ctsq	APN	13	61037714	missense	probably damaging	0.96
IGL00585:Ctsq	APN	13	61037127	missense	probably benign	0.00
IGL00743:Ctsq	APN	13	61036184	missense	probably damaging	1.00
IGL00897:Ctsq	APN	13	61037725	missense	probably damaging	1.00
IGL01679:Ctsq	APN	13	61038908	missense	probably benign	0.00
IGL01982:Ctsq	APN	13	61038918	missense	probably benign
IGL01982:Ctsq	APN	13	61039521	missense	probably benign	0.05
R0036:Ctsq	UTSW	13	61037671	critical splice donor site	probably null
R0036:Ctsq	UTSW	13	61037671	critical splice donor site	probably null
R0741:Ctsq	UTSW	13	61036205	missense	probably damaging	0.99
R1192:Ctsq	UTSW	13	61039045	missense	probably damaging	1.00
R1593:Ctsq	UTSW	13	61036172	splice site	probably null
R3906:Ctsq	UTSW	13	61038771	missense	probably damaging	1.00
R4483:Ctsq	UTSW	13	61038912	missense	probably benign	0.01
R4590:Ctsq	UTSW	13	61036214	missense	probably benign	0.17
R5157:Ctsq	UTSW	13	61037099	missense	probably benign	0.00
R5365:Ctsq	UTSW	13	61037818	missense	possibly damaging	0.95
R5366:Ctsq	UTSW	13	61037099	missense	probably benign	0.00
R5546:Ctsq	UTSW	13	61037888	nonsense	probably null
R5595:Ctsq	UTSW	13	61037060	missense	probably benign	0.41
R6046:Ctsq	UTSW	13	61039141	missense	probably benign	0.00
R6049:Ctsq	UTSW	13	61038758	critical splice donor site	probably null
R6535:Ctsq	UTSW	13	61035326	missense	probably damaging	1.00
R6537:Ctsq	UTSW	13	61035326	missense	probably damaging	1.00
R7159:Ctsq	UTSW	13	61038923	missense	probably benign	0.00

Posted On

2015-04-16