Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01356:Cst12'

75544

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cst12

Ensembl Gene

ENSMUSG00000027443

Gene Name

cystatin 12

Synonyms

1700006F03Rik, cystatin TE-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL01356

Quality Score

Status

Chromosome

Chromosomal Location

148631285-148635352 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 148631468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 50 (D50A)

Ref Sequence

ENSEMBL: ENSMUSP00000028932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028932] [ENSMUST00000028933] [ENSMUST00000168443]

AlphaFold

Q9DAN8

Predicted Effect

probably damaging
Transcript: ENSMUST00000028932
AA Change: D50A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028932
Gene: ENSMUSG00000027443
AA Change: D50A

Domain	Start	End	E-Value	Type
CY	18	126	9.57e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000028933

SMART Domains

Protein: ENSMUSP00000028933
Gene: ENSMUSG00000027444

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168443
AA Change: D63A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126008
Gene: ENSMUSG00000027443
AA Change: D63A

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CY	31	139	4.8e-5	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA474408	T	C	7: 109,660,189 (GRCm39)		probably benign	Het
Acsl1	T	C	8: 46,964,500 (GRCm39)		probably null	Het
Adck2	T	C	6: 39,560,854 (GRCm39)	V463A	probably benign	Het
Armh3	C	T	19: 45,954,742 (GRCm39)	C149Y	possibly damaging	Het
B4galt4	T	A	16: 38,574,506 (GRCm39)	I224N	probably damaging	Het
Caprin1	T	C	2: 103,605,801 (GRCm39)	T396A	probably benign	Het
Cbx3	T	C	6: 51,452,281 (GRCm39)	V32A	probably damaging	Het
Chd1	A	T	17: 15,970,127 (GRCm39)	K960I	probably damaging	Het
Cldn4	A	G	5: 134,975,343 (GRCm39)	I86T	probably benign	Het
Dock10	A	G	1: 80,501,459 (GRCm39)	Y1864H	probably damaging	Het
Dscaml1	G	A	9: 45,658,155 (GRCm39)	G1642E	probably benign	Het
Jakmip3	T	C	7: 138,619,341 (GRCm39)	L241P	probably damaging	Het
Kdm1a	C	T	4: 136,281,202 (GRCm39)	R669H	probably damaging	Het
Lin54	G	A	5: 100,601,876 (GRCm39)	P455S	probably damaging	Het
Lrig1	A	G	6: 94,631,901 (GRCm39)	Y100H	probably benign	Het
Lrig1	G	A	6: 94,586,874 (GRCm39)	P601S	probably damaging	Het
Mtrf1	A	G	14: 79,660,865 (GRCm39)	D419G	probably benign	Het
Naca	C	T	10: 127,877,584 (GRCm39)		probably benign	Het
Naip1	A	G	13: 100,559,722 (GRCm39)	L1094P	probably damaging	Het
Nell2	A	T	15: 95,127,064 (GRCm39)	N770K	probably damaging	Het
Notch4	A	G	17: 34,800,000 (GRCm39)	H987R	possibly damaging	Het
Or2a52	T	A	6: 43,144,324 (GRCm39)	C111S	probably damaging	Het
Or5p63	T	A	7: 107,810,933 (GRCm39)	I268F	probably benign	Het
Or7g26	T	A	9: 19,230,238 (GRCm39)	M142K	probably damaging	Het
Pate13	T	A	9: 35,820,244 (GRCm39)	C33*	probably null	Het
Plcg1	G	T	2: 160,595,813 (GRCm39)	G561W	probably damaging	Het
Ripor3	T	A	2: 167,835,495 (GRCm39)	M159L	probably benign	Het
Serpinb6a	A	G	13: 34,109,400 (GRCm39)	S111P	possibly damaging	Het
Tas1r3	A	T	4: 155,945,784 (GRCm39)	H537Q	probably benign	Het
Tefm	G	A	11: 80,028,823 (GRCm39)	R43*	probably null	Het
Tiam1	A	G	16: 89,634,676 (GRCm39)	V878A	probably damaging	Het
Vmn1r203	A	G	13: 22,708,947 (GRCm39)	S243G	probably damaging	Het
Vmn2r124	G	T	17: 18,293,733 (GRCm39)	V607L	probably benign	Het
Vps8	T	G	16: 21,336,107 (GRCm39)		probably null	Het
Ythdf2	A	T	4: 131,932,661 (GRCm39)	D166E	possibly damaging	Het
Zan	A	G	5: 137,434,694 (GRCm39)	V2203A	unknown	Het

Other mutations in Cst12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02069:Cst12	APN	2	148,634,368 (GRCm39)	missense	probably damaging	1.00
R1517:Cst12	UTSW	2	148,635,172 (GRCm39)	missense	possibly damaging	0.49
R4464:Cst12	UTSW	2	148,631,437 (GRCm39)	missense	possibly damaging	0.89
R4764:Cst12	UTSW	2	148,631,393 (GRCm39)	missense	possibly damaging	0.78
R7862:Cst12	UTSW	2	148,631,495 (GRCm39)	missense	probably damaging	0.97
R8199:Cst12	UTSW	2	148,631,459 (GRCm39)	missense	probably benign	0.31

Posted On

2013-10-07