Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02275:Casc1'

287321

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Casc1

Ensembl Gene

ENSMUSG00000043541

Gene Name

cancer susceptibility candidate 1

Synonyms

A230084G12Rik, Las1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL02275

Quality Score

Status

Chromosome

Chromosomal Location

145174834-145211005 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 145177364 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 592 (Y592C)

Ref Sequence

ENSEMBL: ENSMUSP00000144783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032396] [ENSMUST00000060797] [ENSMUST00000111728] [ENSMUST00000135984] [ENSMUST00000204105]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032396

SMART Domains

Protein: ENSMUSP00000032396
Gene: ENSMUSG00000030263

Domain	Start	End	E-Value	Type
Pfam:MRVI1	10	539	3.2e-265	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000060797
AA Change: Y592C

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

SMART Domains

Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541
AA Change: Y592C

Domain	Start	End	E-Value	Type
low complexity region	1	14	N/A	INTRINSIC
Pfam:Casc1_N	29	229	5.5e-61	PFAM
Pfam:Casc1	241	469	3.4e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000111727

Predicted Effect

probably damaging
Transcript: ENSMUST00000111728
AA Change: Y579C

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

SMART Domains

Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541
AA Change: Y579C

Domain	Start	End	E-Value	Type
coiled coil region	1	45	N/A	INTRINSIC
Pfam:Casc1	228	456	6.1e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132948

SMART Domains

Protein: ENSMUSP00000120248
Gene: ENSMUSG00000030263

Domain	Start	End	E-Value	Type
Pfam:MRVI1	8	504	3.7e-248	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135191

Predicted Effect

probably benign
Transcript: ENSMUST00000135984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141307

Predicted Effect

probably damaging
Transcript: ENSMUST00000204105
AA Change: Y592C

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

SMART Domains

Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541
AA Change: Y592C

Domain	Start	End	E-Value	Type
low complexity region	1	14	N/A	INTRINSIC
Pfam:Casc1_N	29	229	3.4e-57	PFAM
Pfam:Casc1	241	469	2.3e-11	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice with disruptions of this gene display a higher incidence of lung tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	T	A	16: 3,906,282	D130V	probably damaging	Het
4930596D02Rik	T	C	14: 35,811,923	T9A	probably benign	Het
Anapc1	C	A	2: 128,659,852	A757S	probably benign	Het
Bpifa6	A	T	2: 153,992,272	D328V	probably benign	Het
Cdh19	T	A	1: 110,925,886	K275I	probably benign	Het
Col18a1	A	G	10: 77,059,383	I1148T	possibly damaging	Het
Commd1	A	T	11: 22,900,017	V222D	probably damaging	Het
Crim1	T	A	17: 78,369,998	M876K	possibly damaging	Het
Dennd1b	C	A	1: 139,081,254	H232N	probably damaging	Het
Dhx57	T	C	17: 80,274,839	T393A	probably benign	Het
Gabrb2	G	T	11: 42,591,894	R193L	probably benign	Het
Gm5828	T	A	1: 16,769,118		noncoding transcript	Het
Gm6483	C	T	8: 19,691,613	P55S	probably damaging	Het
Hsp90ab1	T	C	17: 45,568,438	Y619C	possibly damaging	Het
Kctd19	A	G	8: 105,396,374	I136T	probably damaging	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr1361	A	C	13: 21,659,000	F108V	probably benign	Het
Sel1l	T	C	12: 91,815,015	Y532C	probably damaging	Het
Sirpb1a	A	G	3: 15,410,409		probably null	Het
Ush2a	C	T	1: 188,263,269	T79M	possibly damaging	Het
Usp24	T	C	4: 106,387,493	V1215A	probably damaging	Het
Vdac3-ps1	T	C	13: 18,030,794		noncoding transcript	Het
Vmn2r75	T	C	7: 86,165,140	T382A	probably benign	Het
Vps53	T	C	11: 76,047,123	Y728C	probably benign	Het

Other mutations in Casc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Casc1	APN	6	145175290	missense	probably benign	0.00
IGL00586:Casc1	APN	6	145191576	missense	possibly damaging	0.53
IGL01066:Casc1	APN	6	145176222	missense	probably damaging	0.96
IGL01413:Casc1	APN	6	145175086	missense	probably damaging	1.00
IGL02668:Casc1	APN	6	145205257	missense	unknown
IGL03018:Casc1	APN	6	145183305	missense	probably damaging	1.00
IGL03233:Casc1	APN	6	145181885	missense	probably damaging	1.00
R0011:Casc1	UTSW	6	145179055	missense	probably damaging	1.00
R0011:Casc1	UTSW	6	145179055	missense	probably damaging	1.00
R0180:Casc1	UTSW	6	145183218	critical splice donor site	probably benign
R0786:Casc1	UTSW	6	145181757	critical splice donor site	probably null
R1916:Casc1	UTSW	6	145176200	missense	probably benign	0.37
R2117:Casc1	UTSW	6	145205241	critical splice donor site	probably null
R2174:Casc1	UTSW	6	145175170	missense	probably damaging	1.00
R2264:Casc1	UTSW	6	145208429	utr 5 prime	probably benign
R4393:Casc1	UTSW	6	145194578	missense	possibly damaging	0.49
R4467:Casc1	UTSW	6	145183218	critical splice donor site	probably null
R4847:Casc1	UTSW	6	145175185	missense	probably damaging	1.00
R5014:Casc1	UTSW	6	145183266	missense	probably damaging	1.00
R5207:Casc1	UTSW	6	145179068	missense	probably damaging	1.00
R5264:Casc1	UTSW	6	145181776	missense	probably benign	0.02
R5359:Casc1	UTSW	6	145196892	missense	probably damaging	1.00
R5499:Casc1	UTSW	6	145177431	missense	probably damaging	1.00
R6211:Casc1	UTSW	6	145200491	missense	probably damaging	1.00
R6579:Casc1	UTSW	6	145179018	missense	probably benign	0.19
R6939:Casc1	UTSW	6	145175219	missense	possibly damaging	0.46
R7108:Casc1	UTSW	6	145185865	nonsense	probably null
R7131:Casc1	UTSW	6	145177406	missense	probably null	0.97
R7810:Casc1	UTSW	6	145194586	missense	probably benign	0.28
R8017:Casc1	UTSW	6	145194557	missense	probably damaging	1.00
R8385:Casc1	UTSW	6	145175192	missense	probably damaging	1.00
R8680:Casc1	UTSW	6	145181816	missense	probably benign	0.13
R8720:Casc1	UTSW	6	145205257	missense	unknown
R9118:Casc1	UTSW	6	145175174	missense	probably damaging	1.00
R9118:Casc1	UTSW	6	145175245	missense	probably damaging	1.00
R9172:Casc1	UTSW	6	145177449	missense	probably benign
R9290:Casc1	UTSW	6	145202962	missense	unknown
X0063:Casc1	UTSW	6	145175271	missense	probably benign	0.13
Z1176:Casc1	UTSW	6	145205293	nonsense	probably null

Posted On

2015-04-16