Mutagenetix > Incidental Mutation

Incidental Mutation 'R5362:Cstdc1'

422856

Institutional Source

Beutler Lab

Gene Symbol

Cstdc1

Ensembl Gene

ENSMUSG00000027444

Gene Name

cystatin domain containing 1

Synonyms

8030411F24Rik, cystatin SC

MMRRC Submission

043264-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R5362 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148623929-148627856 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 148625298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 77 (L77F)

Ref Sequence

ENSEMBL: ENSMUSP00000028933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028933]

AlphaFold

Q8VII3

Predicted Effect

probably damaging
Transcript: ENSMUST00000028933
AA Change: L77F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028933
Gene: ENSMUSG00000027444
AA Change: L77F

Domain	Start	End	E-Value	Type
CY	20	128	2.25e-3	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	A	T	6: 133,271,445 (GRCm39)	D163V	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ankrd17	G	A	5: 90,413,404 (GRCm39)	A1170V	probably damaging	Het
Ano1	A	C	7: 144,202,337 (GRCm39)		probably benign	Het
Atl2	T	C	17: 80,168,890 (GRCm39)	N37D	probably damaging	Het
C2cd5	T	C	6: 143,028,969 (GRCm39)	Y90C	probably damaging	Het
Carm1	A	G	9: 21,498,655 (GRCm39)	N499S	probably benign	Het
Ccdc47	G	A	11: 106,099,039 (GRCm39)		probably null	Het
Cd300lf	G	T	11: 115,007,940 (GRCm39)	L251M	probably damaging	Het
Cfap74	A	G	4: 155,522,623 (GRCm39)	S670G	probably damaging	Het
Clec4a1	A	G	6: 122,909,196 (GRCm39)	D188G	probably damaging	Het
Col4a1	T	C	8: 11,295,760 (GRCm39)		probably benign	Het
Csn2	T	A	5: 87,842,508 (GRCm39)	H165L	probably benign	Het
Dlx3	T	C	11: 95,011,326 (GRCm39)	V60A	possibly damaging	Het
Elp1	A	C	4: 56,778,969 (GRCm39)	I616S	probably damaging	Het
Fam221a	A	G	6: 49,353,049 (GRCm39)	H21R	probably damaging	Het
Foxj3	T	A	4: 119,477,340 (GRCm39)	H349Q	unknown	Het
Gm37240	G	A	3: 84,423,000 (GRCm39)	T123I	probably damaging	Het
Gpc1	A	T	1: 92,782,615 (GRCm39)	T121S	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Itga2b	A	G	11: 102,351,961 (GRCm39)	V512A	probably damaging	Het
Itgae	A	G	11: 73,002,675 (GRCm39)	Y144C	probably damaging	Het
Izumo3	A	T	4: 92,035,037 (GRCm39)	I60K	possibly damaging	Het
Kif9	G	A	9: 110,319,012 (GRCm39)	V159M	probably damaging	Het
Lrp1b	T	C	2: 41,265,914 (GRCm39)	D229G	probably damaging	Het
Nkpd1	G	A	7: 19,257,193 (GRCm39)	G324D	probably damaging	Het
Nrp2	T	A	1: 62,808,221 (GRCm39)	Y617N	probably benign	Het
Ocm	T	C	5: 143,960,674 (GRCm39)	D91G	probably damaging	Het
Or4l15	A	G	14: 50,197,986 (GRCm39)	L181P	possibly damaging	Het
Or52ad1	A	G	7: 102,995,454 (GRCm39)	V227A	probably damaging	Het
Or52n2b	A	G	7: 104,565,834 (GRCm39)	I223T	probably damaging	Het
Or6c70	T	C	10: 129,710,422 (GRCm39)	E68G	probably damaging	Het
Pex5l	G	A	3: 33,047,065 (GRCm39)	A295V	probably damaging	Het
Plekhg4	T	A	8: 106,108,030 (GRCm39)	V1029E	possibly damaging	Het
Pou2f2	G	A	7: 24,792,320 (GRCm39)	P512S	probably benign	Het
Prpf8	G	A	11: 75,397,236 (GRCm39)	R2023Q	possibly damaging	Het
Ptprd	A	T	4: 76,047,050 (GRCm39)	S399R	probably damaging	Het
Qrich2	T	C	11: 116,337,976 (GRCm39)	Y1889C	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Ranbp6	G	T	19: 29,789,128 (GRCm39)	T408K	probably benign	Het
Scn7a	G	A	2: 66,530,342 (GRCm39)	R668C	probably damaging	Het
Sertad4	T	C	1: 192,529,414 (GRCm39)	N134S	probably damaging	Het
Spg11	G	T	2: 121,891,481 (GRCm39)	N1963K	probably damaging	Het
Svil	C	T	18: 5,057,345 (GRCm39)	P598S	probably damaging	Het
Top2a	T	C	11: 98,909,738 (GRCm39)	N120S	probably damaging	Het
Trappc9	C	T	15: 72,930,066 (GRCm39)	E97K	possibly damaging	Het
Vmn1r91	A	T	7: 19,835,386 (GRCm39)	T102S	probably benign	Het
Vmn2r99	G	T	17: 19,599,601 (GRCm39)	M428I	probably benign	Het
Zfp62	A	T	11: 49,107,439 (GRCm39)	H510L	probably damaging	Het

Other mutations in Cstdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Cstdc1	APN	2	148,624,170 (GRCm39)	missense	possibly damaging	0.93
IGL00936:Cstdc1	APN	2	148,627,724 (GRCm39)	missense	probably benign	0.05
IGL02353:Cstdc1	APN	2	148,625,387 (GRCm39)	splice site	probably benign
IGL03088:Cstdc1	APN	2	148,625,327 (GRCm39)	missense	possibly damaging	0.81
R0078:Cstdc1	UTSW	2	148,627,745 (GRCm39)	makesense	probably null
R0465:Cstdc1	UTSW	2	148,625,345 (GRCm39)	missense	probably benign	0.14
R0542:Cstdc1	UTSW	2	148,624,092 (GRCm39)	missense	probably benign
R0723:Cstdc1	UTSW	2	148,625,282 (GRCm39)	missense	probably damaging	0.98
R2025:Cstdc1	UTSW	2	148,624,148 (GRCm39)	missense	probably damaging	0.98
R5153:Cstdc1	UTSW	2	148,625,360 (GRCm39)	missense	probably benign	0.12
R5360:Cstdc1	UTSW	2	148,625,298 (GRCm39)	missense	probably damaging	1.00
R5363:Cstdc1	UTSW	2	148,625,298 (GRCm39)	missense	probably damaging	1.00
R8332:Cstdc1	UTSW	2	148,625,377 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCCAGACTTCAGCAGGAAATG -3'
(R):5'- TTCCAGTGAAGGAGTCCTGAG -3'

Sequencing Primer
(F):5'- TGTCTTTCAAAGGCACATTTCTG -3'
(R):5'- GGAGTCCTGAGATATAATCTTGTCC -3'

Posted On

2016-08-04