Mutagenetix > Incidental Mutation

Incidental Mutation 'R1706:Cstl1'

190053

Institutional Source

Beutler Lab

Gene Symbol

Cstl1

Ensembl Gene

ENSMUSG00000055177

Gene Name

cystatin-like 1

Synonyms

MMRRC Submission

039739-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R1706 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

148592278-148597353 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 148593079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109952] [ENSMUST00000109952] [ENSMUST00000109952] [ENSMUST00000109954] [ENSMUST00000109955] [ENSMUST00000109955]

AlphaFold

Q80Y72

Predicted Effect

probably null
Transcript: ENSMUST00000109952

SMART Domains

Protein: ENSMUSP00000105578
Gene: ENSMUSG00000055177

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CY	29	138	5.52e-13	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109952

SMART Domains

Protein: ENSMUSP00000105578
Gene: ENSMUSG00000055177

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CY	29	138	5.52e-13	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109952

SMART Domains

Protein: ENSMUSP00000105578
Gene: ENSMUSG00000055177

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CY	29	138	5.52e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109954

SMART Domains

Protein: ENSMUSP00000105580
Gene: ENSMUSG00000055177

Domain	Start	End	E-Value	Type
Pfam:Cystatin	13	74	5.5e-10	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109955

SMART Domains

Protein: ENSMUSP00000105581
Gene: ENSMUSG00000055177

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CY	29	138	5.52e-13	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109955

SMART Domains

Protein: ENSMUSP00000105581
Gene: ENSMUSG00000055177

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CY	29	138	5.52e-13	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located at the telomeric end of the cystatin locus and encodes a type 2 cystatin-like protein. The specific function of this protein has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,624,059 (GRCm39)		probably benign	Het
4931406C07Rik	G	A	9: 15,209,153 (GRCm39)	T47I	probably damaging	Het
Adcy2	T	A	13: 68,868,865 (GRCm39)	N558I	probably damaging	Het
Ago3	G	A	4: 126,264,085 (GRCm39)	P374S	probably damaging	Het
Ak8	T	C	2: 28,650,007 (GRCm39)	C345R	possibly damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
BC005624	T	C	2: 30,868,922 (GRCm39)	E84G	possibly damaging	Het
Cav1	T	C	6: 17,339,181 (GRCm39)	F89L	probably damaging	Het
Cfap206	G	A	4: 34,688,875 (GRCm39)	P593L	probably damaging	Het
Clcn6	G	A	4: 148,102,025 (GRCm39)	T353I	probably benign	Het
Cyp2d10	A	C	15: 82,289,783 (GRCm39)	S140A	probably damaging	Het
D130052B06Rik	G	A	11: 33,566,230 (GRCm39)	R18H	unknown	Het
Ddi2	A	G	4: 141,411,308 (GRCm39)	F535L	probably benign	Het
Dop1a	C	T	9: 86,436,133 (GRCm39)	T2383M	possibly damaging	Het
Duox1	A	G	2: 122,149,953 (GRCm39)	T115A	probably benign	Het
Ercc6l2	T	A	13: 64,020,272 (GRCm39)		probably benign	Het
Gm7052	A	G	17: 22,258,823 (GRCm39)		probably benign	Het
Gm9925	G	A	18: 74,198,573 (GRCm39)		probably benign	Het
Gnas	T	A	2: 174,141,768 (GRCm39)	S646T	possibly damaging	Het
Gpatch3	T	A	4: 133,302,484 (GRCm39)	C138*	probably null	Het
Igsf8	C	T	1: 172,144,972 (GRCm39)	R100C	probably damaging	Het
Kcnh3	A	G	15: 99,135,959 (GRCm39)	K652R	possibly damaging	Het
Kcnn4	T	A	7: 24,074,167 (GRCm39)	V77E	probably damaging	Het
Kif13b	T	A	14: 64,998,115 (GRCm39)		probably benign	Het
Lca5l	T	C	16: 95,977,164 (GRCm39)	N214S	probably benign	Het
Luc7l3	T	C	11: 94,188,582 (GRCm39)		probably benign	Het
Lypd3	T	C	7: 24,339,755 (GRCm39)	I274T	probably benign	Het
Macf1	A	G	4: 123,264,377 (GRCm39)		probably null	Het
Mchr1	A	G	15: 81,121,364 (GRCm39)	Y38C	probably damaging	Het
Mia2	T	A	12: 59,191,552 (GRCm39)	L716*	probably null	Het
Mki67	A	G	7: 135,302,295 (GRCm39)	L913P	probably benign	Het
Mug2	T	A	6: 122,013,191 (GRCm39)		probably benign	Het
Neu3	A	G	7: 99,472,563 (GRCm39)	L58P	probably damaging	Het
Or4p23	G	A	2: 88,576,482 (GRCm39)	P250L	probably damaging	Het
Or8h9	A	T	2: 86,789,424 (GRCm39)	I126N	probably damaging	Het
Pak1ip1	T	C	13: 41,166,164 (GRCm39)	V363A	probably benign	Het
Pcdhb16	A	G	18: 37,612,705 (GRCm39)	D555G	probably benign	Het
Pygb	G	A	2: 150,669,067 (GRCm39)	G671D	probably damaging	Het
Rab30	A	T	7: 92,478,875 (GRCm39)	I79L	possibly damaging	Het
Rab44	C	A	17: 29,357,080 (GRCm39)	T70K	probably damaging	Het
Rccd1	C	G	7: 79,970,411 (GRCm39)	G69R	possibly damaging	Het
Sema5b	T	C	16: 35,470,125 (GRCm39)	V329A	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Slc22a14	T	C	9: 119,010,050 (GRCm39)	N15S	probably benign	Het
Smurf2	G	A	11: 106,715,573 (GRCm39)	H632Y	probably damaging	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tgm6	T	C	2: 129,987,079 (GRCm39)	C516R	possibly damaging	Het
Tmprss9	T	C	10: 80,734,021 (GRCm39)		probably benign	Het
Trim67	A	G	8: 125,521,160 (GRCm39)	N174S	probably damaging	Het
Ttc8	C	A	12: 98,910,142 (GRCm39)	T123K	probably benign	Het
Ugt1a7c	T	A	1: 88,023,447 (GRCm39)	M202K	probably damaging	Het
Vmn2r7	T	A	3: 64,598,880 (GRCm39)	H559L	possibly damaging	Het
Zfp511	A	G	7: 139,617,192 (GRCm39)	D96G	probably benign	Het
Zfp868	A	G	8: 70,065,060 (GRCm39)	Y92H	probably benign	Het
Zzz3	T	A	3: 152,154,735 (GRCm39)	D633E	probably damaging	Het

Other mutations in Cstl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0139:Cstl1	UTSW	2	148,597,245 (GRCm39)	missense	probably damaging	1.00
R0477:Cstl1	UTSW	2	148,592,908 (GRCm39)	missense	probably benign	0.06
R2471:Cstl1	UTSW	2	148,593,041 (GRCm39)	nonsense	probably null
R2938:Cstl1	UTSW	2	148,592,977 (GRCm39)	missense	possibly damaging	0.59
R4005:Cstl1	UTSW	2	148,597,190 (GRCm39)	missense	probably damaging	0.99
R5071:Cstl1	UTSW	2	148,592,847 (GRCm39)	start codon destroyed	probably benign	0.01
R7019:Cstl1	UTSW	2	148,597,223 (GRCm39)	missense	probably benign	0.03
R8126:Cstl1	UTSW	2	148,596,591 (GRCm39)	missense	probably benign	0.01
R8871:Cstl1	UTSW	2	148,596,554 (GRCm39)	missense	probably damaging	0.99
R9301:Cstl1	UTSW	2	148,592,926 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- AGAGAACTGTTGCTGCACTCGAAAG -3'
(R):5'- CGACCTGGCTGTGATGACCAAATG -3'

Sequencing Primer
(F):5'- AGCTAAGTGCCTTCCGAAGC -3'
(R):5'- GAGCTGCTTAACTCAGAGATATCG -3'

Posted On

2014-05-14