Mutagenetix > Incidental Mutation

Incidental Mutation 'R5366:Ctsq'

429364

Institutional Source

Beutler Lab

Gene Symbol

Ctsq

Ensembl Gene

ENSMUSG00000021439

Gene Name

cathepsin Q

Synonyms

1600010J02Rik

MMRRC Submission

042944-MU

Accession Numbers

Ncbi RefSeq: NM_029636.3; MGI:2137385

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61035024-61040631 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61037099 bp (GRCm38)

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: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

100% (77/77)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	T	7: 34,242,288 (GRCm38)	M657K	possibly damaging	Het
4932431P20Rik	A	C	7: 29,533,539 (GRCm38)		noncoding transcript	Het
Abcb5	T	C	12: 118,867,930 (GRCm38)	N1229S	possibly damaging	Het
Adgre1	G	A	17: 57,402,817 (GRCm38)	C158Y	probably benign	Het
Ahnak	T	A	19: 9,016,735 (GRCm38)	S5128T	possibly damaging	Het
Ankrd36	T	A	11: 5,592,841 (GRCm38)	C322*	probably null	Het
Ano1	T	A	7: 144,654,209 (GRCm38)	T113S	possibly damaging	Het
Apeh	A	T	9: 108,091,806 (GRCm38)	S321T	probably benign	Het
Atg4d	T	A	9: 21,268,652 (GRCm38)	V273D	probably damaging	Het
Cacna2d4	A	G	6: 119,274,318 (GRCm38)	D489G	probably damaging	Het
Cd47	T	C	16: 49,896,373 (GRCm38)	F256L	probably damaging	Het
Cd84	A	T	1: 171,873,305 (GRCm38)	D211V	probably damaging	Het
Cfap46	A	G	7: 139,650,886 (GRCm38)	L942P	probably damaging	Het
Cfh	A	C	1: 140,136,235 (GRCm38)	C434W	probably damaging	Het
Chst2	T	C	9: 95,405,465 (GRCm38)	D276G	probably damaging	Het
Degs1	C	A	1: 182,279,362 (GRCm38)	D111Y	probably benign	Het
Dhps	T	A	8: 85,074,784 (GRCm38)	D313E	probably damaging	Het
Dock9	A	G	14: 121,578,203 (GRCm38)	C1645R	probably damaging	Het
Efcab7	A	C	4: 99,904,734 (GRCm38)	D407A	possibly damaging	Het
Eif3a	G	T	19: 60,779,533 (GRCm38)	T189N	probably benign	Het
Ep300	T	A	15: 81,616,100 (GRCm38)	L57M	probably benign	Het
Exoc6b	T	A	6: 84,890,531 (GRCm38)	I300L	probably benign	Het
Fam69c	T	A	18: 84,730,595 (GRCm38)	L106Q	probably damaging	Het
Fzd8	T	C	18: 9,213,880 (GRCm38)	S321P	probably damaging	Het
Gm9920	T	A	15: 55,112,309 (GRCm38)		probably benign	Het
Gucy2c	A	G	6: 136,720,741 (GRCm38)	I668T	probably damaging	Het
Irgc1	C	T	7: 24,433,426 (GRCm38)		probably benign	Het
Jsrp1	G	T	10: 80,810,196 (GRCm38)	S143*	probably null	Het
Kctd4	T	C	14: 75,962,819 (GRCm38)	Y77H	probably damaging	Het
Klhdc1	T	A	12: 69,283,150 (GRCm38)	I351N	probably damaging	Het
Klra17	C	T	6: 129,874,895 (GRCm38)	E5K	possibly damaging	Het
Mapk8	A	T	14: 33,390,729 (GRCm38)	V211E	probably damaging	Het
Mdn1	C	T	4: 32,723,690 (GRCm38)	P2542L	probably damaging	Het
Mrc1	T	C	2: 14,321,914 (GRCm38)	Y1208H	probably benign	Het
Mrps16	A	T	14: 20,391,455 (GRCm38)	S94T	probably benign	Het
Muc5ac	A	G	7: 141,807,550 (GRCm38)	T1533A	probably benign	Het
Myh10	A	T	11: 68,760,692 (GRCm38)	D287V	probably damaging	Het
Obscn	T	C	11: 59,080,260 (GRCm38)	T2476A	probably damaging	Het
Olfm2	T	A	9: 20,668,412 (GRCm38)	T356S	probably benign	Het
Olfr1313	T	C	2: 112,072,478 (GRCm38)	Y35C	possibly damaging	Het
P2rx2	T	A	5: 110,341,828 (GRCm38)	N108I	probably damaging	Het
Pbx4	A	T	8: 69,870,170 (GRCm38)	T309S	probably benign	Het
Phyhip	C	A	14: 70,466,855 (GRCm38)	H171Q	probably benign	Het
Pou4f3	A	G	18: 42,395,754 (GRCm38)	E254G	probably damaging	Het
Pxdn	C	A	12: 30,002,900 (GRCm38)	H845Q	probably damaging	Het
Rgcc	T	C	14: 79,291,683 (GRCm38)	T111A	probably benign	Het
Rptor	G	A	11: 119,843,713 (GRCm38)	G514D	probably damaging	Het
Scara5	CG	C	14: 65,759,662 (GRCm38)		probably null	Het
Sgsm1	C	A	5: 113,251,039 (GRCm38)	E722D	possibly damaging	Het
Soat1	A	T	1: 156,444,611 (GRCm38)	D101E	probably benign	Het
Spag5	T	A	11: 78,320,326 (GRCm38)		probably null	Het
Spata31	A	T	13: 64,920,459 (GRCm38)	E140D	probably damaging	Het
Srrm2	T	A	17: 23,818,704 (GRCm38)	S1537T	probably benign	Het
Stam2	G	A	2: 52,736,293 (GRCm38)		probably benign	Het
Tbc1d4	G	T	14: 101,607,976 (GRCm38)	T162K	possibly damaging	Het
Tmem163	A	C	1: 127,500,305 (GRCm38)		probably benign	Het
Tmem43	T	C	6: 91,478,258 (GRCm38)	V72A	probably benign	Het
Tmprss11c	G	A	5: 86,282,134 (GRCm38)	T24I	possibly damaging	Het
Trerf1	A	T	17: 47,315,190 (GRCm38)		noncoding transcript	Het
Trim44	A	G	2: 102,400,131 (GRCm38)	L185P	probably damaging	Het
Tspyl1	A	G	10: 34,282,345 (GRCm38)	D22G	possibly damaging	Het
Ttn	A	T	2: 76,811,243 (GRCm38)	L5176Q	possibly damaging	Het
Tyro3	G	A	2: 119,804,831 (GRCm38)	R201Q	probably damaging	Het
Ubxn2a	T	A	12: 4,880,741 (GRCm38)	K206N	probably benign	Het
Usp17lb	G	T	7: 104,840,408 (GRCm38)	H436Q	possibly damaging	Het
Vps9d1	A	G	8: 123,245,114 (GRCm38)	I584T	possibly damaging	Het
Vrk1	T	A	12: 106,055,819 (GRCm38)	M131K	possibly damaging	Het
Zfp827	A	T	8: 79,185,704 (GRCm38)	K986N	possibly damaging	Het
Zswim4	A	G	8: 84,212,790 (GRCm38)	M821T	probably benign	Het

Other mutations in Ctsq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Ctsq	APN	13	61,037,714 (GRCm38)	missense	probably damaging	0.96
IGL00585:Ctsq	APN	13	61,037,127 (GRCm38)	missense	probably benign	0.00
IGL00743:Ctsq	APN	13	61,036,184 (GRCm38)	missense	probably damaging	1.00
IGL00897:Ctsq	APN	13	61,037,725 (GRCm38)	missense	probably damaging	1.00
IGL01679:Ctsq	APN	13	61,038,908 (GRCm38)	missense	probably benign	0.00
IGL01982:Ctsq	APN	13	61,039,521 (GRCm38)	missense	probably benign	0.05
IGL01982:Ctsq	APN	13	61,038,918 (GRCm38)	missense	probably benign
IGL02448:Ctsq	APN	13	61,036,230 (GRCm38)	missense	probably damaging	1.00
R0036:Ctsq	UTSW	13	61,037,671 (GRCm38)	critical splice donor site	probably null
R0036:Ctsq	UTSW	13	61,037,671 (GRCm38)	critical splice donor site	probably null
R0741:Ctsq	UTSW	13	61,036,205 (GRCm38)	missense	probably damaging	0.99
R1192:Ctsq	UTSW	13	61,039,045 (GRCm38)	missense	probably damaging	1.00
R1593:Ctsq	UTSW	13	61,036,172 (GRCm38)	splice site	probably null
R3906:Ctsq	UTSW	13	61,038,771 (GRCm38)	missense	probably damaging	1.00
R4483:Ctsq	UTSW	13	61,038,912 (GRCm38)	missense	probably benign	0.01
R4590:Ctsq	UTSW	13	61,036,214 (GRCm38)	missense	probably benign	0.17
R5157:Ctsq	UTSW	13	61,037,099 (GRCm38)	missense	probably benign	0.00
R5365:Ctsq	UTSW	13	61,037,818 (GRCm38)	missense	possibly damaging	0.95
R5546:Ctsq	UTSW	13	61,037,888 (GRCm38)	nonsense	probably null
R5595:Ctsq	UTSW	13	61,037,060 (GRCm38)	missense	probably benign	0.41
R6046:Ctsq	UTSW	13	61,039,141 (GRCm38)	missense	probably benign	0.00
R6049:Ctsq	UTSW	13	61,038,758 (GRCm38)	critical splice donor site	probably null
R6535:Ctsq	UTSW	13	61,035,326 (GRCm38)	missense	probably damaging	1.00
R6537:Ctsq	UTSW	13	61,035,326 (GRCm38)	missense	probably damaging	1.00
R7159:Ctsq	UTSW	13	61,038,923 (GRCm38)	missense	probably benign	0.00
R8189:Ctsq	UTSW	13	61,037,155 (GRCm38)	missense	probably damaging	1.00
R8890:Ctsq	UTSW	13	61,037,688 (GRCm38)	missense	probably damaging	1.00
Z1176:Ctsq	UTSW	13	61,037,123 (GRCm38)	missense	probably benign	0.01
Z1177:Ctsq	UTSW	13	61,037,096 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGCAGACGTTCATATCAGGTG -3'
(R):5'- TCTTTCTTCCAGGCTGTAAGTG -3'

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

Posted On

2016-09-06