Mutagenetix > Incidental Mutation

Incidental Mutation 'R2206:Cst13'

239025

Institutional Source

Beutler Lab

Gene Symbol

Cst13

Ensembl Gene

ENSMUSG00000036924

Gene Name

cystatin 13

Synonyms

cystatin T, Cymg1, 1700006C19Rik

MMRRC Submission

040208-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R2206 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148662001-148672330 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148665202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 66 (R66W)

Ref Sequence

ENSEMBL: ENSMUSP00000036005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046589]

AlphaFold

Q80ZN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000046589
AA Change: R66W

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

SMART Domains

Protein: ENSMUSP00000036005
Gene: ENSMUSG00000036924
AA Change: R66W

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
CY	29	139	2.2e-18	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,964,331 (GRCm39)	C24S	probably benign	Het
2410137M14Rik	A	G	17: 37,288,965 (GRCm39)		probably benign	Het
Abhd18	G	A	3: 40,865,008 (GRCm39)	G83D	probably benign	Het
Adam34	T	C	8: 44,105,274 (GRCm39)	I124V	probably benign	Het
Adck2	A	G	6: 39,560,773 (GRCm39)	D123G	probably damaging	Het
Arhgef2	A	G	3: 88,537,221 (GRCm39)	E37G	probably damaging	Het
Axl	T	C	7: 25,470,061 (GRCm39)	Y466C	probably damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bpifb9a	A	T	2: 154,106,161 (GRCm39)		probably null	Het
Brip1	A	G	11: 85,952,703 (GRCm39)	V1026A	probably benign	Het
Cacna1h	A	T	17: 25,603,987 (GRCm39)	S1282T	probably benign	Het
Calcr	T	C	6: 3,717,133 (GRCm39)	Y109C	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cstf2t	A	G	19: 31,061,175 (GRCm39)	N237S	probably benign	Het
Dhx8	A	G	11: 101,641,797 (GRCm39)	T632A	probably benign	Het
Disp2	G	T	2: 118,622,725 (GRCm39)	Q1152H	probably benign	Het
Dlg1	A	G	16: 31,672,664 (GRCm39)	H599R	probably benign	Het
Dmxl1	T	C	18: 50,027,161 (GRCm39)	S2090P	probably benign	Het
Dnajc13	C	G	9: 104,080,717 (GRCm39)	V821L	probably damaging	Het
Dop1a	T	A	9: 86,403,652 (GRCm39)	H1617Q	probably benign	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Ephb4	T	C	5: 137,355,981 (GRCm39)	C197R	probably damaging	Het
Foxn1	C	A	11: 78,249,630 (GRCm39)	A632S	probably benign	Het
Fpr3	A	C	17: 18,190,908 (GRCm39)	T60P	probably damaging	Het
Gja4	A	T	4: 127,206,410 (GRCm39)	S118T	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Itfg1	A	T	8: 86,502,827 (GRCm39)	S246R	probably benign	Het
Kazn	A	T	4: 141,845,603 (GRCm39)		probably null	Het
Mdn1	T	C	4: 32,716,271 (GRCm39)	L2111P	possibly damaging	Het
Myo6	A	G	9: 80,165,737 (GRCm39)	Y374C	probably benign	Het
Odad2	C	A	18: 7,223,676 (GRCm39)	G456W	probably benign	Het
Or1a1	G	T	11: 74,087,150 (GRCm39)	V274L	possibly damaging	Het
Or1j16	G	T	2: 36,530,201 (GRCm39)	R50M	possibly damaging	Het
Or5b99	A	G	19: 12,976,404 (GRCm39)	D18G	probably benign	Het
Or9m1b	A	G	2: 87,836,579 (GRCm39)	V181A	probably benign	Het
Pcdhb15	A	T	18: 37,608,075 (GRCm39)	T436S	probably benign	Het
Pcdhb18	T	A	18: 37,624,342 (GRCm39)	N557K	probably damaging	Het
Pcdhb6	T	C	18: 37,468,633 (GRCm39)	M518T	probably benign	Het
Pcmtd1	A	T	1: 7,239,807 (GRCm39)	I83L	probably benign	Het
Pitrm1	T	A	13: 6,619,327 (GRCm39)	Y721N	probably damaging	Het
Prcp	C	T	7: 92,577,820 (GRCm39)	T328I	probably damaging	Het
Psg27	C	A	7: 18,301,036 (GRCm39)	E6*	probably null	Het
Pth1r	T	A	9: 110,552,655 (GRCm39)	E465V	probably damaging	Het
Pus7l	T	C	15: 94,421,471 (GRCm39)	Y613C	probably damaging	Het
Rsl1	A	G	13: 67,330,892 (GRCm39)	T447A	probably benign	Het
Setd3	C	T	12: 108,073,544 (GRCm39)	V578M	probably benign	Het
Slc10a1	T	C	12: 81,014,402 (GRCm39)	N106S	probably damaging	Het
Slc29a3	T	C	10: 60,551,686 (GRCm39)	M453V	possibly damaging	Het
Slc4a8	T	C	15: 100,705,326 (GRCm39)	V844A	probably damaging	Het
Sorcs1	T	C	19: 50,218,655 (GRCm39)	H609R	possibly damaging	Het
Spata31d1e	A	G	13: 59,890,920 (GRCm39)	V300A	probably benign	Het
Tmppe	C	G	9: 114,234,640 (GRCm39)	P313R	probably benign	Het
Tnxb	A	C	17: 34,928,391 (GRCm39)	T2602P	possibly damaging	Het
Trip11	T	C	12: 101,839,701 (GRCm39)	N1643S	probably benign	Het
Trmt1l	T	C	1: 151,311,594 (GRCm39)		probably null	Het
Vmn1r177	A	T	7: 23,565,556 (GRCm39)	C107S	probably damaging	Het
Vmn1r225	A	G	17: 20,722,611 (GRCm39)	I17M	possibly damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Wdr7	T	A	18: 63,910,678 (GRCm39)	V690E	possibly damaging	Het
Xaf1	A	T	11: 72,194,228 (GRCm39)	E36D	possibly damaging	Het
Zbtb40	G	A	4: 136,744,596 (GRCm39)	Q275*	probably null	Het
Zfp513	T	G	5: 31,357,767 (GRCm39)	K202T	probably damaging	Het

Other mutations in Cst13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Cst13	APN	2	148,672,224 (GRCm39)	missense	probably damaging	0.96
R0800:Cst13	UTSW	2	148,672,247 (GRCm39)	missense	possibly damaging	0.95
R1037:Cst13	UTSW	2	148,672,251 (GRCm39)	unclassified	probably benign
R1401:Cst13	UTSW	2	148,665,016 (GRCm39)	missense	probably benign	0.00
R2207:Cst13	UTSW	2	148,665,202 (GRCm39)	missense	probably damaging	0.99
R4350:Cst13	UTSW	2	148,672,169 (GRCm39)	missense	probably benign	0.00
R4667:Cst13	UTSW	2	148,665,001 (GRCm39)	start gained	probably benign
R5193:Cst13	UTSW	2	148,670,143 (GRCm39)	nonsense	probably null
R5854:Cst13	UTSW	2	148,670,094 (GRCm39)	missense	probably benign	0.01
R6391:Cst13	UTSW	2	148,670,111 (GRCm39)	missense	probably damaging	1.00
R7020:Cst13	UTSW	2	148,665,129 (GRCm39)	nonsense	probably null
R7532:Cst13	UTSW	2	148,665,127 (GRCm39)	missense	probably benign	0.11
R8407:Cst13	UTSW	2	148,665,124 (GRCm39)	missense	probably damaging	0.99
R9377:Cst13	UTSW	2	148,670,165 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- GCACCATGGCCAGATTCTTAC -3'
(R):5'- ATGCCCTTTCTGAGCTATGATC -3'

Sequencing Primer
(F):5'- ATGGCCAGATTCTTACAGACCCTG -3'
(R):5'- ATACCATGTACATGCCTGGG -3'

Posted On

2014-10-02