Mutagenetix > Incidental Mutations

Incidental Mutation 'R8890:Ctsq'

677644

Institutional Source

Beutler Lab

Gene Symbol

Ctsq

Ensembl Gene

ENSMUSG00000021439

Gene Name

cathepsin Q

Synonyms

1600010J02Rik

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_029636.3; MGI:2137385

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R8890 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61035024-61040631 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61037688 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 213 (Y213F)

Ref Sequence

ENSEMBL: ENSMUSP00000021888 (fasta)

Gene Model

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

AlphaFold

Q91ZF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000021888
AA Change: Y213F

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

SMART Domains

Protein: ENSMUSP00000021888
Gene: ENSMUSG00000021439
AA Change: Y213F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (59/59)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	G	A	X: 70,394,388	R100W	possibly damaging	Het
Acrv1	A	T	9: 36,693,312	M1L	probably benign	Het
Adam23	G	A	1: 63,585,365	G784D	possibly damaging	Het
Astl	A	T	2: 127,356,559	M365L	probably benign	Het
C1ql3	T	A	2: 13,010,373	T159S		Het
Ccser2	T	G	14: 36,879,395	D344A	probably damaging	Het
Cox11	A	C	11: 90,643,773	I214L	probably damaging	Het
Cramp1l	C	T	17: 24,983,140	G456D	probably damaging	Het
Cyp2j5	T	A	4: 96,634,318	I340F	probably damaging	Het
Efcab6	A	G	15: 83,945,148	F664L	probably damaging	Het
Eif3j2	A	G	18: 43,477,211	L179P	probably benign	Het
Fam109b	G	T	15: 82,343,417	V46F	probably damaging	Het
Fhad1	A	T	4: 141,929,591	M84K	probably benign	Het
Gabbr1	T	C	17: 37,047,544	V58A	probably benign	Het
Gabra1	T	A	11: 42,133,726	Y374F	probably benign	Het
Glt28d2	A	T	3: 85,872,052	V38D	possibly damaging	Het
Gm13101	G	T	4: 143,964,924	Q410K	probably benign	Het
Grid2	A	T	6: 63,256,939	H28L	probably benign	Het
Hat1	G	A	2: 71,438,793	R355K	probably damaging	Het
Hivep3	T	C	4: 120,096,460	Y658H	possibly damaging	Het
Hsh2d	T	C	8: 72,197,846	F108S	probably damaging	Het
Il17rc	G	T	6: 113,479,070	C292F	probably damaging	Het
Il31ra	T	C	13: 112,524,327	D576G	possibly damaging	Het
Iqsec3	T	C	6: 121,412,556	D652G	probably damaging	Het
Kdm5a	T	A	6: 120,389,663	S420R	probably damaging	Het
Klhdc7b	A	G	15: 89,388,685	T599A	probably benign	Het
Lrrc8c	A	T	5: 105,607,088	E243V	probably damaging	Het
Mecom	A	G	3: 29,952,733	S714P	probably damaging	Het
Mindy4	T	C	6: 55,278,238	L567P	probably benign	Het
Mipep	G	T	14: 60,872,057	A628S	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mterf3	C	T	13: 66,916,612		probably null	Het
Myh15	C	A	16: 49,138,767	L1001I	probably damaging	Het
Myom3	G	A	4: 135,814,254	M1385I	probably benign	Het
Nbea	T	C	3: 56,019,363		probably benign	Het
Nphs1	C	T	7: 30,462,655	R270W	probably damaging	Het
Nwd1	T	A	8: 72,711,856	S1552T	probably benign	Het
Olfr1130	A	T	2: 87,608,068	I227F	probably damaging	Het
Olfr16	G	A	1: 172,957,478	V228M	probably benign	Het
Olfr569	A	T	7: 102,887,492	Y220*	probably null	Het
Olfr629	G	T	7: 103,740,468	F257L	probably damaging	Het
Pcdh7	A	T	5: 57,719,375	I91F	probably damaging	Het
Piezo1	T	C	8: 122,489,591	R1394G		Het
Psmd1	G	A	1: 86,085,192	R361Q	probably damaging	Het
Ralb	G	A	1: 119,483,516	T31M	probably damaging	Het
Rassf4	T	A	6: 116,640,344	K233N	probably damaging	Het
Rif1	T	C	2: 52,098,863	F756S	probably damaging	Het
Rpgrip1	G	A	14: 52,145,044	D556N	possibly damaging	Het
Scai	T	C	2: 39,150,388		probably benign	Het
Scfd1	A	G	12: 51,427,895	T478A	probably benign	Het
Spag17	T	A	3: 100,004,678	I288N	possibly damaging	Het
Sult1e1	C	T	5: 87,579,860	V188I	probably benign	Het
Tmco1	A	G	1: 167,316,245	R82G		Het
Tmem109	T	C	19: 10,871,871	S207G	probably benign	Het
Vmn2r115	A	G	17: 23,359,523	T657A	probably damaging	Het
Whamm	A	G	7: 81,593,892	T621A	probably benign	Het
Zbtb40	A	G	4: 136,998,586	L554P	probably damaging	Het
Zfp131	A	T	13: 119,782,802	M114K	probably damaging	Het
Zfp532	C	T	18: 65,624,333	P446S	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
IGL02448:Ctsq	APN	13	61036230	missense	probably damaging	1.00
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
R8189:Ctsq	UTSW	13	61037155	missense	probably damaging	1.00
Z1176:Ctsq	UTSW	13	61037123	missense	probably benign	0.01
Z1177:Ctsq	UTSW	13	61037096	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCATACTGATACTTTCACGCC -3'
(R):5'- TATGGACCTATCAACTGCCATTTTC -3'

Sequencing Primer
(F):5'- TACTGATACTTTCACGCCAAAATC -3'
(R):5'- CCTGTGACTGGTGCCATAGAAG -3'

Posted On

2021-08-02