Mutagenetix > Incidental Mutation

Incidental Mutation 'R6623:Cstdc2'

524589

Institutional Source

Beutler Lab

Gene Symbol

Cstdc2

Ensembl Gene

ENSMUSG00000027446

Gene Name

cystatin domain containing 2

Synonyms

9230104L09Rik, mCST E2

MMRRC Submission

044745-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6623 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148686540-148692882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148692682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 40 (I40K)

Ref Sequence

ENSEMBL: ENSMUSP00000028937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028937]

AlphaFold

Q9D264

Predicted Effect

probably benign
Transcript: ENSMUST00000028937
AA Change: I40K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000028937
Gene: ENSMUSG00000027446
AA Change: I40K

Domain	Start	End	E-Value	Type
Pfam:Cystatin	35	118	3.8e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149457

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

100% (29/29)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,634,388 (GRCm39)	K460E	probably damaging	Het
Acaca	A	C	11: 84,262,325 (GRCm39)		probably null	Het
Adamts1	A	G	16: 85,592,525 (GRCm39)	S628P	probably benign	Het
Ankrd13a	A	G	5: 114,924,818 (GRCm39)	N101S	probably benign	Het
Asic5	G	A	3: 81,915,892 (GRCm39)	V281M	probably damaging	Het
Atxn7	T	C	14: 14,099,972 (GRCm38)	S553P	probably damaging	Het
Fndc3c1	G	C	X: 105,478,679 (GRCm39)	L724V	possibly damaging	Homo
Hmcn1	A	G	1: 150,634,057 (GRCm39)	F843S	probably benign	Het
Igkv10-96	T	G	6: 68,609,158 (GRCm39)	S46R	probably damaging	Het
Itfg2	G	T	6: 128,388,620 (GRCm39)	A289D	probably damaging	Het
Klc1	C	A	12: 111,772,475 (GRCm39)	N597K	probably damaging	Het
Lnx2	A	G	5: 146,961,297 (GRCm39)	V545A	probably damaging	Het
Map3k11	A	G	19: 5,745,631 (GRCm39)	I344V	probably damaging	Het
Muc6	G	A	7: 141,223,981 (GRCm39)		probably benign	Het
Myrf	C	A	19: 10,200,723 (GRCm39)	A317S	probably benign	Het
Ncoa2	A	T	1: 13,251,521 (GRCm39)	C251S	probably damaging	Het
Or52i2	T	G	7: 102,319,241 (GRCm39)	M38R	possibly damaging	Het
Pcdhb12	C	T	18: 37,570,711 (GRCm39)	T619I	possibly damaging	Het
Plxna1	A	T	6: 89,299,753 (GRCm39)	M1672K	probably damaging	Het
Prl	G	T	13: 27,245,492 (GRCm39)	V72L	probably benign	Het
Prokr2	G	T	2: 132,215,494 (GRCm39)	N161K	probably damaging	Het
Ryr2	T	C	13: 11,724,951 (GRCm39)	D2454G	probably damaging	Het
Slc2a12	T	A	10: 22,540,799 (GRCm39)	M218K	probably damaging	Het
Sorcs3	C	T	19: 48,776,944 (GRCm39)	A992V	probably benign	Het
Stxbp2	T	C	8: 3,682,561 (GRCm39)	I50T	probably damaging	Het
Supt20	A	G	3: 54,625,715 (GRCm39)	I570M	possibly damaging	Het
Sv2b	T	A	7: 74,856,132 (GRCm39)	I53F	probably damaging	Het
Vmn1r113	T	A	7: 20,521,991 (GRCm39)	M261K	probably benign	Het
Vmn1r217	T	A	13: 23,298,846 (GRCm39)	I19F	possibly damaging	Het
Vmn2r45	T	C	7: 8,474,500 (GRCm39)	T843A	probably benign	Het
Vmn2r69	T	A	7: 85,056,309 (GRCm39)	I610L	possibly damaging	Het

Other mutations in Cstdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02414:Cstdc2	APN	2	148,692,598 (GRCm39)	missense	possibly damaging	0.70
R2973:Cstdc2	UTSW	2	148,692,706 (GRCm39)	missense	probably benign	0.20
R2974:Cstdc2	UTSW	2	148,692,706 (GRCm39)	missense	probably benign	0.20
R3789:Cstdc2	UTSW	2	148,689,878 (GRCm39)	nonsense	probably null
R3802:Cstdc2	UTSW	2	148,692,616 (GRCm39)	missense	probably benign	0.02
R4796:Cstdc2	UTSW	2	148,692,658 (GRCm39)	missense	probably damaging	0.99
R6330:Cstdc2	UTSW	2	148,692,745 (GRCm39)	missense	probably damaging	0.99
R7440:Cstdc2	UTSW	2	148,688,911 (GRCm39)	missense	probably damaging	1.00
R7809:Cstdc2	UTSW	2	148,688,910 (GRCm39)	missense	probably damaging	0.99
R9169:Cstdc2	UTSW	2	148,692,589 (GRCm39)	critical splice donor site	probably null
R9443:Cstdc2	UTSW	2	148,689,878 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGTTGCAAATGTCTAGCCAAG -3'
(R):5'- AGTGATGATCAAGAGAATCCCCAG -3'

Sequencing Primer
(F):5'- GTATCACCCTGTAGGCAT -3'
(R):5'- GCCCAGGAAATTAATTTAAGGGTTAG -3'

Posted On

2018-06-22