Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01434:Cstdc4'

84265

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cstdc4

Ensembl Gene

ENSMUSG00000079597

Gene Name

cystatin domain containing 4

Synonyms

Gm5483

Accession Numbers

Essential gene?

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

Stock #

IGL01434

Quality Score

Status

Chromosome

Chromosomal Location

36004582-36008481 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36006777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 37 (V37E)

Ref Sequence

ENSEMBL: ENSMUSP00000110508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114858]

AlphaFold

B2RV77

Predicted Effect

probably benign
Transcript: ENSMUST00000114858
AA Change: V37E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110508
Gene: ENSMUSG00000079597
AA Change: V37E

Domain	Start	End	E-Value	Type
CY	1	97	6.58e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179667

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231731

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	G	7: 119,380,297 (GRCm39)		probably benign	Het
Adcy7	A	G	8: 89,051,472 (GRCm39)	N864S	probably damaging	Het
Anapc7	A	G	5: 122,576,279 (GRCm39)	D302G	probably benign	Het
Atm	A	T	9: 53,419,107 (GRCm39)	C782S	probably benign	Het
Bicdl1	G	A	5: 115,808,215 (GRCm39)	Q37*	probably null	Het
Cabin1	T	C	10: 75,561,420 (GRCm39)	D1027G	possibly damaging	Het
Cbl	T	C	9: 44,075,503 (GRCm39)	I364V	probably damaging	Het
Ccer1	T	C	10: 97,529,459 (GRCm39)	S41P	unknown	Het
Cenpf	G	A	1: 189,390,065 (GRCm39)	Q1256*	probably null	Het
Copa	T	A	1: 171,947,128 (GRCm39)	I1093N	probably benign	Het
Cped1	C	T	6: 22,017,004 (GRCm39)	L118F	probably damaging	Het
Cplane2	T	C	4: 140,945,964 (GRCm39)	V169A	probably benign	Het
Dner	T	C	1: 84,361,731 (GRCm39)	H626R	probably benign	Het
Ears2	G	A	7: 121,662,311 (GRCm39)		probably benign	Het
Eif3c	A	G	7: 126,155,582 (GRCm39)	I562T	probably damaging	Het
Eml6	T	C	11: 29,769,090 (GRCm39)	Y685C	probably damaging	Het
Garin1b	T	C	6: 29,320,700 (GRCm39)	V108A	probably damaging	Het
Gpt	A	G	15: 76,582,982 (GRCm39)	K321E	probably damaging	Het
Hspd1	C	T	1: 55,120,285 (GRCm39)	G306R	probably damaging	Het
Kmt2c	T	C	5: 25,614,306 (GRCm39)	Y138C	probably damaging	Het
Lhcgr	A	G	17: 89,049,865 (GRCm39)	Y554H	probably damaging	Het
Nell1	A	T	7: 50,350,956 (GRCm39)	K534N	probably benign	Het
Nob1	A	G	8: 108,151,360 (GRCm39)		probably benign	Het
Or13a17	G	A	7: 140,271,531 (GRCm39)	A238T	probably damaging	Het
Phf12	C	T	11: 77,914,385 (GRCm39)	P60L	probably damaging	Het
Prkdc	A	G	16: 15,531,451 (GRCm39)	E1358G	probably benign	Het
Rimbp3	A	G	16: 17,029,566 (GRCm39)	T997A	probably benign	Het
Slc9a9	T	A	9: 94,901,247 (GRCm39)	N393K	possibly damaging	Het
Sohlh2	T	C	3: 55,102,582 (GRCm39)	S206P	probably damaging	Het
Stard10	G	A	7: 100,971,187 (GRCm39)	V125M	probably benign	Het
Tff2	G	T	17: 31,362,240 (GRCm39)		probably null	Het
Tha1	T	C	11: 117,759,425 (GRCm39)	T355A	probably benign	Het
Tmem120a	G	T	5: 135,765,864 (GRCm39)	F127L	possibly damaging	Het
Tmem41b	A	G	7: 109,577,909 (GRCm39)		probably benign	Het
Tonsl	T	C	15: 76,515,302 (GRCm39)	D1028G	probably benign	Het

Other mutations in Cstdc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02715:Cstdc4	APN	16	36,008,315 (GRCm39)	missense	possibly damaging	0.92
R0361:Cstdc4	UTSW	16	36,004,648 (GRCm39)	missense	probably damaging	0.97
R5015:Cstdc4	UTSW	16	36,006,837 (GRCm39)	critical splice donor site	probably null
R5799:Cstdc4	UTSW	16	36,004,631 (GRCm39)	start codon destroyed	probably null	0.40
R8178:Cstdc4	UTSW	16	36,006,772 (GRCm39)	nonsense	probably null
R9100:Cstdc4	UTSW	16	36,008,285 (GRCm39)	missense	possibly damaging	0.92

Posted On

2013-11-11