Mutagenetix > Incidental Mutation

Incidental Mutation 'R4889:Ctsm'

377211

Institutional Source

Beutler Lab

Gene Symbol

Ctsm

Ensembl Gene

ENSMUSG00000074871

Gene Name

cathepsin M

Synonyms

Catm, 1600027J17Rik, Cat M

MMRRC Submission

042494-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4889 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61683557-61689653 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61686215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 106 (F106S)

Ref Sequence

ENSEMBL: ENSMUSP00000152924 (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: F256S

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

SMART Domains

Protein: ENSMUSP00000097050
Gene: ENSMUSG00000074871
AA Change: F256S

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: F256S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000225268
AA Change: F23S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225902
AA Change: F106S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225965
AA Change: F60S

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.9705

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ado	G	C	10: 67,384,135 (GRCm39)	R157G	probably benign	Het
Akap12	C	A	10: 4,306,535 (GRCm39)	A1115E	probably damaging	Het
Ankhd1	A	G	18: 36,711,787 (GRCm39)	M196V	probably null	Het
Appl2	G	A	10: 83,476,922 (GRCm39)	T34I	probably damaging	Het
Arhgap21	T	C	2: 20,885,279 (GRCm39)	S472G	probably benign	Het
Asmt	G	T	X: 169,110,764 (GRCm39)	R250L	possibly damaging	Het
Baz2b	A	T	2: 59,767,070 (GRCm39)	I870N	probably damaging	Het
Card11	T	C	5: 140,871,700 (GRCm39)	Q667R	possibly damaging	Het
Cercam	A	G	2: 29,771,845 (GRCm39)	D555G	probably damaging	Het
Cop1	A	T	1: 159,112,159 (GRCm39)	R284S	probably damaging	Het
Cr2	A	G	1: 194,858,893 (GRCm39)	V9A	possibly damaging	Het
Dhx9	A	T	1: 153,356,895 (GRCm39)	L118Q	probably damaging	Het
Dnah5	G	T	15: 28,235,938 (GRCm39)	C355F	probably benign	Het
Dock1	C	A	7: 134,346,705 (GRCm39)	N212K	probably benign	Het
Efemp2	T	A	19: 5,525,148 (GRCm39)	L18Q	probably null	Het
Flvcr1	A	G	1: 190,757,764 (GRCm39)	L176P	probably damaging	Het
Gm16505	A	T	13: 3,411,125 (GRCm39)		noncoding transcript	Het
Gm6457	A	T	18: 14,703,501 (GRCm39)		noncoding transcript	Het
Gnptab	A	G	10: 88,269,775 (GRCm39)	N826S	probably benign	Het
Hdc	T	G	2: 126,436,053 (GRCm39)	N606T	probably benign	Het
Itga3	T	C	11: 94,959,127 (GRCm39)	D113G	probably benign	Het
Maml3	C	T	3: 51,601,931 (GRCm39)		probably benign	Het
Mkrn1	A	T	6: 39,396,939 (GRCm39)		probably benign	Het
Myo18a	T	C	11: 77,723,238 (GRCm39)	V720A	probably damaging	Het
Nkx3-1	G	A	14: 69,428,447 (GRCm39)		probably null	Het
Npat	T	C	9: 53,473,507 (GRCm39)	I433T	probably benign	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or10ag53	A	T	2: 87,082,991 (GRCm39)	I237F	probably damaging	Het
Or1l4	A	G	2: 37,092,057 (GRCm39)	Y268C	probably damaging	Het
Or5m12	C	T	2: 85,735,092 (GRCm39)	C102Y	possibly damaging	Het
Pde6c	T	A	19: 38,121,599 (GRCm39)	M69K	probably benign	Het
Pde7b	T	C	10: 20,423,823 (GRCm39)	T18A	probably benign	Het
Plcz1	T	C	6: 139,953,474 (GRCm39)	K381R	probably benign	Het
Ppfia4	A	C	1: 134,228,252 (GRCm39)	F1095V	probably damaging	Het
Sfxn3	T	C	19: 45,038,254 (GRCm39)	F78S	probably damaging	Het
Sim1	A	T	10: 50,857,420 (GRCm39)	Y390F	probably benign	Het
Slc25a31	A	G	3: 40,675,975 (GRCm39)	I174V	probably benign	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Slco1b2	T	G	6: 141,602,469 (GRCm39)		probably benign	Het
Smarca5	C	A	8: 81,431,326 (GRCm39)	D964Y	possibly damaging	Het
Sptbn2	T	A	19: 4,779,458 (GRCm39)	S338R	possibly damaging	Het
Srcap	T	C	7: 127,137,719 (GRCm39)	V1023A	possibly damaging	Het
Syt16	A	G	12: 74,176,269 (GRCm39)	E46G	probably damaging	Het
Tas2r114	A	T	6: 131,666,758 (GRCm39)	I90K	probably damaging	Het
Tlx1	G	T	19: 45,139,418 (GRCm39)	D22Y	probably damaging	Het
Vamp8	G	A	6: 72,362,522 (GRCm39)	L93F	possibly damaging	Het
Vill	T	C	9: 118,892,409 (GRCm39)	S347P	possibly damaging	Het
Zfp974	A	G	7: 27,610,244 (GRCm39)	Y494H	possibly 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
R4631:Ctsm	UTSW	13	61,685,510 (GRCm39)	missense	probably null	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'- AGCATTGCTCACACTCAGG -3'
(R):5'- GCCCAGACTGAAGTAACCTTG -3'

Sequencing Primer
(F):5'- CTCAGGGGGAGGTCATATAATG -3'
(R):5'- AGACTGAAGTAACCTTGTACTTTAAC -3'

Posted On

2016-03-17