Mutagenetix > Incidental Mutation

Incidental Mutation 'R9301:Cstl1'

704924

Institutional Source

Beutler Lab

Gene Symbol

Cstl1

Ensembl Gene

ENSMUSG00000055177

Gene Name

cystatin-like 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9301 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

148592278-148597353 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 148592926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 27 (H27R)

Ref Sequence

ENSEMBL: ENSMUSP00000105581 (fasta)

Gene Model

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

AlphaFold

Q80Y72

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109952
AA Change: H27R

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105578
Gene: ENSMUSG00000055177
AA Change: H27R

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

possibly damaging
Transcript: ENSMUST00000109955
AA Change: H27R

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105581
Gene: ENSMUSG00000055177
AA Change: H27R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,881,128 (GRCm39)	N514K	probably benign	Het
Adss1	A	T	12: 112,602,882 (GRCm39)	R358W	probably damaging	Het
Anxa8	T	A	14: 33,819,932 (GRCm39)	I307N	probably damaging	Het
Atad5	T	A	11: 79,986,845 (GRCm39)	I644N	probably damaging	Het
Atp5f1a	G	T	18: 77,868,938 (GRCm39)	L437F	probably damaging	Het
Babam1	A	G	8: 71,855,684 (GRCm39)	K259R	possibly damaging	Het
BC048562	T	G	9: 108,323,054 (GRCm39)	F130V	probably damaging	Het
Btf3l4b	T	A	13: 96,217,621 (GRCm39)	K73*	probably null	Het
Camsap2	T	A	1: 136,202,640 (GRCm39)		probably null	Het
Ccne2	A	G	4: 11,192,881 (GRCm39)	I27M	probably benign	Het
Cd302	A	G	2: 60,082,793 (GRCm39)	V177A	possibly damaging	Het
Cfap46	T	C	7: 139,222,461 (GRCm39)	K1172R		Het
Cic	T	C	7: 24,991,117 (GRCm39)	W2141R	probably damaging	Het
Cpeb3	A	G	19: 37,151,473 (GRCm39)	V301A	possibly damaging	Het
Cpsf3	A	G	12: 21,350,112 (GRCm39)	K277R	possibly damaging	Het
Dapk1	T	A	13: 60,866,125 (GRCm39)	I188K	possibly damaging	Het
Dock6	T	C	9: 21,729,111 (GRCm39)	T1301A	probably benign	Het
Eml5	A	T	12: 98,848,292 (GRCm39)	C133*	probably null	Het
Ermap	T	A	4: 119,042,744 (GRCm39)	I260F	probably damaging	Het
Fbxw22	T	G	9: 109,215,653 (GRCm39)	E198D	possibly damaging	Het
Flt4	T	C	11: 49,516,241 (GRCm39)	Y115H	possibly damaging	Het
Fmo9	A	C	1: 166,494,794 (GRCm39)	I369S	probably damaging	Het
Frmd4a	T	A	2: 4,157,904 (GRCm39)	S6T	probably benign	Het
Golga5	A	T	12: 102,443,057 (GRCm39)	I330L	probably benign	Het
Helq	C	A	5: 100,927,158 (GRCm39)	V643F	probably damaging	Het
Ino80d	A	T	1: 63,104,969 (GRCm39)	L369H	probably damaging	Het
Kank1	A	T	19: 25,388,798 (GRCm39)	M824L	probably benign	Het
Lilrb4b	T	C	10: 51,356,801 (GRCm39)		probably benign	Het
Ltbp4	T	A	7: 27,021,578 (GRCm39)	D1003V	probably damaging	Het
Mapk8ip2	T	C	15: 89,341,886 (GRCm39)	S366P	probably damaging	Het
Mdga1	T	C	17: 30,069,512 (GRCm39)	H178R	probably benign	Het
Mlh3	A	G	12: 85,292,613 (GRCm39)	V1266A	possibly damaging	Het
Nrp1	A	G	8: 129,089,859 (GRCm39)	E78G	probably damaging	Het
Or1l4	A	T	2: 37,091,255 (GRCm39)	M1L	probably benign	Het
Or4z4	A	T	19: 12,076,826 (GRCm39)	M59K	probably damaging	Het
Or5d16	A	G	2: 87,773,297 (GRCm39)	V225A	probably benign	Het
Or8k33	A	G	2: 86,383,818 (GRCm39)	S217P	possibly damaging	Het
Ovch2	A	G	7: 107,395,815 (GRCm39)	S68P	probably damaging	Het
Pappa2	T	A	1: 158,672,614 (GRCm39)	I1110F	probably damaging	Het
Pcyox1	A	C	6: 86,369,241 (GRCm39)	L195R	possibly damaging	Het
Pde11a	A	G	2: 75,848,217 (GRCm39)	L870P	probably damaging	Het
Pgpep1	G	A	8: 71,103,418 (GRCm39)	T152M	probably damaging	Het
Pik3c2a	A	T	7: 115,945,413 (GRCm39)	D1464E	probably damaging	Het
Plcb1	A	G	2: 135,167,610 (GRCm39)	K468R	possibly damaging	Het
Postn	C	T	3: 54,292,659 (GRCm39)	T742I	probably benign	Het
Ppm1j	T	A	3: 104,691,057 (GRCm39)	Y274N	probably damaging	Het
Ppp2cb	T	C	8: 34,090,038 (GRCm39)	C32R	possibly damaging	Het
Prmt9	T	A	8: 78,282,374 (GRCm39)	Y90*	probably null	Het
Ptk2	T	C	15: 73,146,346 (GRCm39)	Y441C	probably damaging	Het
Rabggta	T	A	14: 55,957,083 (GRCm39)	I266L	probably benign	Het
Rft1	C	T	14: 30,398,812 (GRCm39)	R261W	probably damaging	Het
Rsrc1	C	T	3: 67,197,680 (GRCm39)	A195V	probably damaging	Het
Rtkn2	T	G	10: 67,871,677 (GRCm39)	L355R	possibly damaging	Het
Runx1t1	A	T	4: 13,875,477 (GRCm39)	D427V	possibly damaging	Het
Slc15a4	T	G	5: 127,673,812 (GRCm39)	H534P	probably benign	Het
Slc16a7	T	C	10: 125,066,880 (GRCm39)	N253S	probably damaging	Het
Slc29a1	A	G	17: 45,897,063 (GRCm39)	S408P	probably damaging	Het
Slc52a2	G	A	15: 76,424,406 (GRCm39)	A215T	probably damaging	Het
Smc1b	T	A	15: 85,011,995 (GRCm39)	I126L	probably damaging	Het
Sycp2	A	T	2: 178,023,650 (GRCm39)	N455K	probably benign	Het
Tbck	T	C	3: 132,543,738 (GRCm39)	V863A	probably benign	Het
Tfap2c	A	G	2: 172,395,347 (GRCm39)	M263V	probably benign	Het
Tmem45a	A	G	16: 56,627,134 (GRCm39)	V245A	probably damaging	Het
Top2a	C	T	11: 98,897,790 (GRCm39)	G759D	probably damaging	Het
Traf5	A	G	1: 191,729,489 (GRCm39)	S218P		Het
Tsfm	T	C	10: 126,866,502 (GRCm39)	R20G	probably benign	Het
Ugt2a2	G	T	5: 87,608,382 (GRCm39)	Q486K	probably damaging	Het
Usp34	T	A	11: 23,422,951 (GRCm39)	D3108E		Het
Wnt11	A	G	7: 98,495,796 (GRCm39)	Y100C	probably damaging	Het
Zbtb49	A	G	5: 38,370,931 (GRCm39)	C317R	probably benign	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
R1706:Cstl1	UTSW	2	148,593,079 (GRCm39)	splice site	probably null
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

Predicted Primers

PCR Primer
(F):5'- TGAAGCTGTCTCCCAGGAAG -3'
(R):5'- TCCCCATATGTCTCAAGAAGCAG -3'

Sequencing Primer
(F):5'- TGTCTCCCAGGAAGCCAATG -3'
(R):5'- CCATATGTCTCAAGAAGCAGGATGG -3'

Posted On

2022-03-25