Mutagenetix > Incidental Mutation

Incidental Mutation 'R1631:Ctsm'

172810

Institutional Source

Beutler Lab

Gene Symbol

Ctsm

Ensembl Gene

ENSMUSG00000074871

Gene Name

cathepsin M

Synonyms

Catm, 1600027J17Rik, Cat M

MMRRC Submission

039668-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1631 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61683557-61689653 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61686249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 12 (I12V)

Ref Sequence

ENSEMBL: ENSMUSP00000153564 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000099451
AA Change: I245V

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097050
Gene: ENSMUSG00000074871
AA Change: I245V

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 benign
Transcript: ENSMUST00000223778
AA Change: I245V

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225268
AA Change: I12V

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000225902
AA Change: I95V

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

unknown
Transcript: ENSMUST00000225965
AA Change: I49V

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	T	A	17: 33,756,316 (GRCm39)	S320T	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Als2	T	C	1: 59,257,226 (GRCm39)	E12G	probably benign	Het
Arhgef10	A	T	8: 14,997,157 (GRCm39)	D321V	probably damaging	Het
Atp8a1	T	G	5: 67,906,395 (GRCm39)		probably null	Het
Avil	A	G	10: 126,846,494 (GRCm39)		probably null	Het
C2cd3	G	A	7: 100,021,704 (GRCm39)		probably null	Het
Cdhr18	C	T	14: 13,829,796 (GRCm38)	E649K	probably damaging	Het
Col18a1	G	A	10: 76,895,131 (GRCm39)	P1177S	probably damaging	Het
Copb2	T	A	9: 98,462,213 (GRCm39)	F428L	probably benign	Het
Cpa1	A	G	6: 30,640,923 (GRCm39)	E138G	probably damaging	Het
Dctn1	A	G	6: 83,174,578 (GRCm39)	Q967R	possibly damaging	Het
Dok2	T	C	14: 71,014,393 (GRCm39)	Y194H	probably damaging	Het
Ezh2	C	T	6: 47,554,592 (GRCm39)	M1I	probably null	Het
Fkbp8	T	A	8: 70,984,282 (GRCm39)	L210Q	probably damaging	Het
Fpr1	T	A	17: 18,097,263 (GRCm39)	Q242L	probably benign	Het
Gal3st2b	T	A	1: 93,868,505 (GRCm39)	D243E	probably damaging	Het
Gm5422	A	G	10: 31,125,802 (GRCm39)		noncoding transcript	Het
Gucy1a2	A	G	9: 3,533,052 (GRCm39)	N84D	probably damaging	Het
Hsd3b5	A	C	3: 98,529,393 (GRCm39)	V79G	probably damaging	Het
Htr6	A	T	4: 138,788,804 (GRCm39)	V417E	probably benign	Het
Ifnar2	G	A	16: 91,188,755 (GRCm39)	V79I	probably benign	Het
Ighv10-1	T	C	12: 114,443,102 (GRCm39)		probably benign	Het
Itpr2	A	G	6: 146,081,788 (GRCm39)	F182L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lama3	A	G	18: 12,540,551 (GRCm39)	Y285C	probably damaging	Het
Lamc2	C	A	1: 153,034,680 (GRCm39)	V108L	possibly damaging	Het
Lrrc14b	A	G	13: 74,509,373 (GRCm39)		probably null	Het
Magi3	T	C	3: 103,958,493 (GRCm39)	T531A	probably benign	Het
Mapre2	A	G	18: 23,966,011 (GRCm39)	Y32C	probably damaging	Het
Med1	C	T	11: 98,046,452 (GRCm39)		probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nt5el	C	A	13: 105,218,749 (GRCm39)	Q28K	probably benign	Het
Or10a3b	A	C	7: 108,445,064 (GRCm39)	L51R	probably damaging	Het
Or51h1	A	G	7: 102,308,408 (GRCm39)	I127V	probably damaging	Het
Or5h23	G	A	16: 58,906,408 (GRCm39)	T146I	probably benign	Het
Or7a35	A	T	10: 78,853,239 (GRCm39)	I28L	probably benign	Het
Pde1b	A	G	15: 103,430,099 (GRCm39)	T143A	probably damaging	Het
Pkhd1	T	C	1: 20,593,121 (GRCm39)	D1664G	probably benign	Het
Plod3	C	T	5: 137,017,847 (GRCm39)	R208W	probably damaging	Het
Pstk	G	A	7: 130,986,271 (GRCm39)	A277T	possibly damaging	Het
Qrich1	T	C	9: 108,411,684 (GRCm39)	V403A	probably damaging	Het
Rad21	C	A	15: 51,833,436 (GRCm39)	V348F	probably damaging	Het
Sacs	T	A	14: 61,448,181 (GRCm39)	L3409*	probably null	Het
Setd4	T	A	16: 93,390,136 (GRCm39)	K98*	probably null	Het
Skint5	A	G	4: 113,341,123 (GRCm39)	V1385A	probably benign	Het
Stam	C	A	2: 14,151,059 (GRCm39)	S472*	probably null	Het
Stx2	A	G	5: 129,069,289 (GRCm39)	F141L	probably damaging	Het
Tia1	A	G	6: 86,397,330 (GRCm39)	D101G	probably damaging	Het
Ttc21a	T	A	9: 119,783,228 (GRCm39)		probably null	Het
Usp34	T	A	11: 23,410,651 (GRCm39)	N2700K	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
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
R4631:Ctsm	UTSW	13	61,685,510 (GRCm39)	missense	probably null	1.00
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'- AAGCATTGCTCACACTCAGGGG -3'
(R):5'- GTGGGGAGGCTCAACTGCAAATATC -3'

Sequencing Primer
(F):5'- CACTCAGGGGGAGGTCATATAATG -3'
(R):5'- GCTCAACTGCAAATATCAGAGTG -3'

Posted On

2014-04-24