Mutagenetix > Incidental Mutation

Incidental Mutation 'R4631:Ctsm'

349216

Institutional Source

Beutler Lab

Gene Symbol

Ctsm

Ensembl Gene

ENSMUSG00000074871

Gene Name

cathepsin M

Synonyms

Catm, 1600027J17Rik, Cat M

MMRRC Submission

041896-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4631 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61683557-61689653 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61685510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 301 (S301C)

Ref Sequence

ENSEMBL: ENSMUSP00000153101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099451] [ENSMUST00000223778] [ENSMUST00000225268] [ENSMUST00000225902]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000099451
AA Change: S301C

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

SMART Domains

Protein: ENSMUSP00000097050
Gene: ENSMUSG00000074871
AA Change: S301C

Domain	Start	End	E-Value	Type
Inhibitor_I29	29	88	4.63e-24	SMART
Pept_C1	114	332	2.05e-105	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000223778
AA Change: S301C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000225268

Predicted Effect

probably benign
Transcript: ENSMUST00000225902

Predicted Effect

probably benign
Transcript: ENSMUST00000225965

Meta Mutation Damage Score

0.9579

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (84/84)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,165,270 (GRCm39)	L368Q	probably damaging	Het
Abcc2	C	T	19: 43,803,146 (GRCm39)	P661S	possibly damaging	Het
Adgre4	T	G	17: 56,121,305 (GRCm39)	M457R	probably null	Het
Ank	C	A	15: 27,467,176 (GRCm39)	F29L	probably benign	Het
Arhgap20	T	C	9: 51,751,653 (GRCm39)		probably benign	Het
Atf6	T	C	1: 170,574,766 (GRCm39)		probably null	Het
Bhmt1b	G	A	18: 87,774,525 (GRCm39)	R16H	probably damaging	Het
Bod1l	A	G	5: 41,975,078 (GRCm39)	F2079L	probably damaging	Het
Cd163	T	C	6: 124,306,045 (GRCm39)	*1122Q	probably null	Het
Ces2g	T	C	8: 105,694,094 (GRCm39)		probably null	Het
Cntnap3	A	G	13: 64,926,697 (GRCm39)	Y558H	probably benign	Het
Dlc1	A	C	8: 37,404,712 (GRCm39)		probably null	Het
Dlg2	A	T	7: 91,737,822 (GRCm39)	I435F	probably damaging	Het
Dnah5	T	C	15: 28,402,099 (GRCm39)	V3420A	probably damaging	Het
Dnah5	T	A	15: 28,420,140 (GRCm39)	Y3813N	probably damaging	Het
Dnajc13	A	G	9: 104,067,616 (GRCm39)	M1181T	probably damaging	Het
Drc3	C	A	11: 60,255,734 (GRCm39)	T107N	probably benign	Het
Dydc2	T	C	14: 40,771,286 (GRCm39)	E131G	probably benign	Het
Eif5b	T	C	1: 38,080,828 (GRCm39)	V723A	probably damaging	Het
Fndc9	C	A	11: 46,128,675 (GRCm39)	H65N	possibly damaging	Het
Fzd1	A	T	5: 4,805,865 (GRCm39)	Y572*	probably null	Het
Gps1	T	A	11: 120,679,065 (GRCm39)		probably null	Het
Gvin3	A	G	7: 106,198,730 (GRCm39)		noncoding transcript	Het
Kazn	G	A	4: 141,845,471 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnip1	T	A	11: 33,942,821 (GRCm39)		noncoding transcript	Het
Kif19a	A	G	11: 114,675,673 (GRCm39)	I382V	possibly damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Malsu1	A	T	6: 49,061,467 (GRCm39)	E177V	probably damaging	Het
Man2a2	A	G	7: 80,012,211 (GRCm39)	F649L	probably benign	Het
Map3k11	A	G	19: 5,740,941 (GRCm39)	I223V	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myh9	T	G	15: 77,681,228 (GRCm39)	D164A	probably damaging	Het
Myo16	T	C	8: 10,556,984 (GRCm39)	I1040T	probably damaging	Het
Myo18b	C	T	5: 112,994,266 (GRCm39)	A896T	probably damaging	Het
Myocd	G	T	11: 65,069,685 (GRCm39)	N798K	probably benign	Het
Or13c7b	T	C	4: 43,820,563 (GRCm39)	D266G	probably benign	Het
Or1n1b	T	G	2: 36,780,630 (GRCm39)	T77P	probably benign	Het
Or2l13b	G	A	16: 19,348,891 (GRCm39)	R260*	probably null	Het
Or4c11	C	T	2: 88,695,174 (GRCm39)	T75I	probably benign	Het
Or4g7	T	A	2: 111,309,908 (GRCm39)	W260R	probably damaging	Het
Or52a5	A	T	7: 103,426,682 (GRCm39)	L290Q	probably damaging	Het
Or5b105	T	A	19: 13,080,636 (GRCm39)	I11F	probably benign	Het
Pcdh18	T	A	3: 49,710,890 (GRCm39)	I142F	probably damaging	Het
Pcyox1	T	C	6: 86,366,212 (GRCm39)	E334G	possibly damaging	Het
Pcyox1	T	C	6: 86,366,125 (GRCm39)	D363G	probably benign	Het
Pgm2	A	G	5: 64,263,290 (GRCm39)		probably null	Het
Plagl1	T	G	10: 13,003,743 (GRCm39)		probably benign	Het
Ppp1r9a	A	G	6: 4,906,537 (GRCm39)	D364G	possibly damaging	Het
Rab2b	T	A	14: 52,503,699 (GRCm39)	H141L	possibly damaging	Het
Rev3l	A	G	10: 39,704,412 (GRCm39)	K279E	probably benign	Het
Rnf111	G	T	9: 70,357,678 (GRCm39)	T607N	probably benign	Het
Scn8a	C	A	15: 100,914,384 (GRCm39)	S1130*	probably null	Het
Selenbp1	A	G	3: 94,851,879 (GRCm39)	*473W	probably null	Het
Sh3bp4	A	C	1: 89,071,995 (GRCm39)	D281A	probably damaging	Het
Skint5	T	A	4: 113,486,314 (GRCm39)		probably null	Het
Slc1a4	A	G	11: 20,258,452 (GRCm39)	L249P	probably damaging	Het
Slc45a2	T	A	15: 11,012,662 (GRCm39)	S222T	probably benign	Het
Slc7a4	A	G	16: 17,392,255 (GRCm39)	F393S	probably damaging	Het
Slc9a2	A	T	1: 40,801,078 (GRCm39)	D536V	possibly damaging	Het
Stra6	T	A	9: 58,048,115 (GRCm39)		probably benign	Het
Tmem145	A	G	7: 25,007,250 (GRCm39)	D156G	probably benign	Het
Tns3	A	C	11: 8,401,119 (GRCm39)	F1060V	probably benign	Het
Trak1	G	A	9: 121,283,491 (GRCm39)	R419Q	probably benign	Het
Trappc8	A	G	18: 21,000,865 (GRCm39)	S273P	probably benign	Het
Trmt11	A	G	10: 30,435,200 (GRCm39)	S320P	probably benign	Het
Ugt1a6a	A	T	1: 88,066,980 (GRCm39)	Y262F	probably benign	Het
Vmn1r73	G	A	7: 11,490,758 (GRCm39)	C192Y	probably benign	Het
Vmn2r103	T	C	17: 20,013,958 (GRCm39)	I250T	probably benign	Het
Vmn2r25	T	A	6: 123,829,962 (GRCm39)	D63V	possibly damaging	Het
Vps13b	C	T	15: 35,646,278 (GRCm39)	H1461Y	possibly damaging	Het
Ythdc2	A	T	18: 45,020,698 (GRCm39)	E1427D	probably benign	Het
Zbed6	A	T	1: 133,586,482 (GRCm39)	V285E	probably damaging	Het
Zbtb26	A	G	2: 37,326,968 (GRCm39)	F23L	probably benign	Het
Zfp62	T	A	11: 49,108,632 (GRCm39)	*908R	probably null	Het
Zfp975	A	T	7: 42,312,369 (GRCm39)	N81K	probably benign	Het
Zkscan16	G	A	4: 58,951,918 (GRCm39)	V198M	probably damaging	Het

Other mutations in Ctsm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01460:Ctsm	APN	13	61,686,850 (GRCm39)	missense	probably damaging	1.00
IGL01487:Ctsm	APN	13	61,686,883 (GRCm39)	missense	probably benign	0.08
IGL01647:Ctsm	APN	13	61,688,087 (GRCm39)	missense	probably benign	0.11
IGL01746:Ctsm	APN	13	61,686,717 (GRCm39)	splice site	probably benign
IGL01746:Ctsm	APN	13	61,687,630 (GRCm39)	missense	probably benign	0.07
IGL01908:Ctsm	APN	13	61,685,601 (GRCm39)	missense	probably benign	0.29
IGL02315:Ctsm	APN	13	61,687,462 (GRCm39)	missense	probably benign
FR4548:Ctsm	UTSW	13	61,685,651 (GRCm39)	frame shift	probably null
FR4976:Ctsm	UTSW	13	61,685,650 (GRCm39)	frame shift	probably null
R0613:Ctsm	UTSW	13	61,687,496 (GRCm39)	missense	probably damaging	0.97
R1631:Ctsm	UTSW	13	61,686,249 (GRCm39)	missense	possibly damaging	0.46
R3004:Ctsm	UTSW	13	61,687,682 (GRCm39)	missense	possibly damaging	0.60
R3741:Ctsm	UTSW	13	61,687,441 (GRCm39)	missense	probably benign	0.02
R4889:Ctsm	UTSW	13	61,686,215 (GRCm39)	missense	probably damaging	1.00
R4989:Ctsm	UTSW	13	61,686,776 (GRCm39)	missense	probably damaging	1.00
R5478:Ctsm	UTSW	13	61,685,543 (GRCm39)	missense	probably benign	0.01
R6994:Ctsm	UTSW	13	61,687,698 (GRCm39)	missense	probably damaging	1.00
R7479:Ctsm	UTSW	13	61,685,569 (GRCm39)	missense	probably damaging	1.00
R8152:Ctsm	UTSW	13	61,687,463 (GRCm39)	missense	probably benign
R8696:Ctsm	UTSW	13	61,685,521 (GRCm39)	missense	probably damaging	1.00
R9172:Ctsm	UTSW	13	61,685,643 (GRCm39)	missense
R9198:Ctsm	UTSW	13	61,687,612 (GRCm39)	missense	probably damaging	1.00
R9257:Ctsm	UTSW	13	61,684,413 (GRCm39)	missense	probably damaging	1.00
R9449:Ctsm	UTSW	13	61,686,299 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACAAGTGCCCATAAACATGTATG -3'
(R):5'- CCCTTACCAGATTCTTGGGC -3'

Sequencing Primer
(F):5'- CAAGCACACAGTCTCATGGGG -3'
(R):5'- AGATTCTTGGGCCTCTCACTG -3'

Posted On

2015-10-08