Mutagenetix > Incidental Mutation

Incidental Mutation 'R9449:Ctsm'

714150

Institutional Source

Beutler Lab

Gene Symbol

Ctsm

Ensembl Gene

ENSMUSG00000074871

Gene Name

cathepsin M

Synonyms

Catm, 1600027J17Rik, Cat M

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9449 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61683557-61689653 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61686299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 228 (V228D)

Ref Sequence

ENSEMBL: ENSMUSP00000097050 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000099451
AA Change: V228D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097050
Gene: ENSMUSG00000074871
AA Change: V228D

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 damaging
Transcript: ENSMUST00000223778
AA Change: V228D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000225268

Predicted Effect

probably damaging
Transcript: ENSMUST00000225902
AA Change: V78D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aarsd1	A	C	11: 101,301,597 (GRCm39)	S262A	probably benign	Het
Abhd17c	A	G	7: 83,763,637 (GRCm39)	Y189H	probably damaging	Het
Adam33	T	C	2: 130,895,606 (GRCm39)	R570G	possibly damaging	Het
Alpk2	G	A	18: 65,424,464 (GRCm39)	R1441W	probably damaging	Het
Arhgap21	A	G	2: 20,885,464 (GRCm39)	V581A	probably benign	Het
Bcat2	T	C	7: 45,234,980 (GRCm39)	V226A	possibly damaging	Het
Cdh10	A	G	15: 19,013,521 (GRCm39)	N707S	possibly damaging	Het
Chd9	T	C	8: 91,659,174 (GRCm39)	F45L	unknown	Het
Clec1a	T	C	6: 129,428,606 (GRCm39)	T25A	probably benign	Het
Cps1	T	C	1: 67,259,671 (GRCm39)	F1338L	probably damaging	Het
Cthrc1	A	G	15: 38,947,868 (GRCm39)	T196A	probably benign	Het
Dennd3	A	T	15: 73,429,477 (GRCm39)	D920V	probably damaging	Het
Dnah17	A	G	11: 117,987,452 (GRCm39)	I1286T	probably benign	Het
Dnah3	T	A	7: 119,551,473 (GRCm39)	T2949S	probably benign	Het
Dram1	C	T	10: 88,192,703 (GRCm39)	V28M	probably benign	Het
Eml5	A	G	12: 98,827,554 (GRCm39)	Y559H	probably damaging	Het
Ermard	C	T	17: 15,273,554 (GRCm39)	R380C	possibly damaging	Het
Fam181a	A	G	12: 103,282,107 (GRCm39)	D4G	probably damaging	Het
Gabrd	C	A	4: 155,472,803 (GRCm39)	V127L	probably damaging	Het
Galnt12	T	A	4: 47,104,163 (GRCm39)	Y140*	probably null	Het
Gpr161	A	T	1: 165,146,389 (GRCm39)	K442*	probably null	Het
Haus6	A	T	4: 86,513,665 (GRCm39)	N332K	probably benign	Het
Igsf3	T	A	3: 101,358,322 (GRCm39)	Y738N	probably damaging	Het
Itsn1	T	A	16: 91,625,264 (GRCm39)	*622R	probably null	Het
Kcna2	T	A	3: 107,012,887 (GRCm39)	Y489*	probably null	Het
Limk1	A	G	5: 134,701,864 (GRCm39)		probably null	Het
Manba	A	T	3: 135,255,079 (GRCm39)	D479V	probably benign	Het
Myh6	A	T	14: 55,189,779 (GRCm39)	I1089N	possibly damaging	Het
Npas4	T	A	19: 5,038,492 (GRCm39)	D142V	probably damaging	Het
Nr4a1	T	C	15: 101,168,053 (GRCm39)	F30L	probably benign	Het
Numbl	C	T	7: 26,976,327 (GRCm39)	R336C		Het
Or10x4	G	A	1: 174,218,742 (GRCm39)	A36T	probably benign	Het
Or5p4	T	C	7: 107,680,040 (GRCm39)	I13T		Het
Parp9	T	C	16: 35,777,234 (GRCm39)	S393P	probably damaging	Het
Pcdha11	A	G	18: 37,145,484 (GRCm39)	E525G	probably damaging	Het
Pdia2	T	C	17: 26,416,174 (GRCm39)	T298A	probably benign	Het
Per3	G	A	4: 151,094,945 (GRCm39)	T946I	probably benign	Het
Pla2r1	A	T	2: 60,258,902 (GRCm39)	V1162D	probably damaging	Het
Plxnd1	T	A	6: 115,932,730 (GRCm39)	N1917Y	probably damaging	Het
Pole3	A	T	4: 62,442,277 (GRCm39)	D114E	unknown	Het
Ppil3	T	C	1: 58,470,397 (GRCm39)	D151G	probably benign	Het
Psd3	A	T	8: 68,165,833 (GRCm39)	M365K	unknown	Het
Psme2b	T	G	11: 48,836,566 (GRCm39)	H127P	probably damaging	Het
Ric8a	C	G	7: 140,437,393 (GRCm39)	R4G	probably benign	Het
Rock2	A	T	12: 17,027,763 (GRCm39)	D1360V	probably damaging	Het
Simc1	A	G	13: 54,674,192 (GRCm39)	T847A	probably benign	Het
Slc12a1	T	A	2: 125,028,144 (GRCm39)	V480E	probably damaging	Het
Slc32a1	T	C	2: 158,456,241 (GRCm39)	F299L	probably benign	Het
Slc44a2	A	G	9: 21,258,333 (GRCm39)	Y500C		Het
Ssbp2	A	G	13: 91,823,157 (GRCm39)	D192G	probably benign	Het
Stat5b	T	C	11: 100,681,674 (GRCm39)	K527E	probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Usp50	A	G	2: 126,619,817 (GRCm39)		probably null	Het
Vegfc	A	T	8: 54,610,053 (GRCm39)	M70L	probably benign	Het
Vmn1r40	A	G	6: 89,691,854 (GRCm39)	T224A	probably benign	Het
Vmn2r116	A	G	17: 23,605,919 (GRCm39)	D277G	probably benign	Het
Vti1a	T	A	19: 55,612,278 (GRCm39)	I197N	possibly damaging	Het
Zfyve9	C	A	4: 108,576,435 (GRCm39)	L215F	probably damaging	Het
Znrf3	A	T	11: 5,288,710 (GRCm39)	Y19*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TAAGCATTGCTCACACTCAGGG -3'
(R):5'- GCATGATTTATAAAAGCCCAGATGTGG -3'

Sequencing Primer
(F):5'- AAATGGTCTGTTGAACCGAAAG -3'
(R):5'- TGGGGAGGCTCAACTGCAAATATC -3'

Posted On

2022-06-15