Mutagenetix > Incidental Mutations

Incidental Mutation 'R5499:Casc1'

430514

Institutional Source

Beutler Lab

Gene Symbol

Casc1

Ensembl Gene

ENSMUSG00000043541

Gene Name

cancer susceptibility candidate 1

Synonyms

A230084G12Rik, Las1

MMRRC Submission

043060-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5499 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

145174834-145211005 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 145177431 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 570 (W570R)

Ref Sequence

ENSEMBL: ENSMUSP00000144783 (fasta)

Gene Model

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

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: W570R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541
AA Change: W570R

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: W557R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541
AA Change: W557R

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: W570R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541
AA Change: W570R

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

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.0%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	G	A	2: 68,601,793	E74K	unknown	Het
Adam10	A	T	9: 70,740,117	H176L	probably benign	Het
Anapc5	C	T	5: 122,788,413	E621K	probably damaging	Het
Asf1a	T	A	10: 53,606,170	L26Q	probably damaging	Het
Atxn1l	A	G	8: 109,731,632	L666P	probably damaging	Het
Cep290	G	A	10: 100,537,653	R1265H	probably damaging	Het
Chd8	A	G	14: 52,204,431		probably null	Het
Ctse	T	A	1: 131,672,513	Y333*	probably null	Het
Diras2	C	T	13: 52,507,750	V174M	probably benign	Het
Dnah11	A	T	12: 118,106,474	V1532D	possibly damaging	Het
Ercc6	G	A	14: 32,516,959	M1I	probably null	Het
Fbxl4	A	G	4: 22,386,017	E208G	probably damaging	Het
Fstl4	G	T	11: 53,068,547	M138I	probably benign	Het
Galnt17	T	A	5: 130,900,628	Q447L	probably benign	Het
H2-Q7	T	A	17: 35,439,940	C122*	probably null	Het
Herpud1	C	T	8: 94,389,413	L69F	probably damaging	Het
Hnrnpa3	A	G	2: 75,665,240	Y365C	probably benign	Het
Ino80	A	T	2: 119,441,647	V553E	probably damaging	Het
Kif13a	A	G	13: 46,832,736	Y38H	probably damaging	Het
Klk1b21	A	G	7: 44,105,676	I132V	probably benign	Het
Lamb2	T	C	9: 108,487,802	S1252P	possibly damaging	Het
Lct	T	A	1: 128,286,677	D1786V	probably damaging	Het
Lrig2	T	A	3: 104,461,557	M572L	probably benign	Het
Lrp1	C	T	10: 127,572,944	V1710I	possibly damaging	Het
Mmp12	C	A	9: 7,353,000	S250R	probably benign	Het
Mycbp2	T	C	14: 103,242,179	D1226G	probably damaging	Het
Myocd	A	G	11: 65,178,749	I755T	possibly damaging	Het
Nup210l	T	C	3: 90,174,370	L1003P	probably damaging	Het
Olfr366	T	C	2: 37,219,765	I92T	possibly damaging	Het
Olfr675	A	T	7: 105,024,977	M1K	probably null	Het
Olfr748	G	A	14: 50,710,867	C179Y	probably damaging	Het
Palmd	T	A	3: 116,923,832	M339L	probably benign	Het
Phtf1	T	A	3: 103,991,175	N307K	probably benign	Het
Ppp2r3c	T	C	12: 55,288,626	I243V	probably benign	Het
Ptafr	A	G	4: 132,579,335	E12G	probably damaging	Het
Rpgrip1	T	A	14: 52,140,585	N463K	probably benign	Het
Sgcb	T	C	5: 73,644,405	N39S	probably damaging	Het
Skint5	A	G	4: 113,942,503		probably null	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Slfn8	C	A	11: 83,004,216	S588I	probably damaging	Het
Tcea2	A	G	2: 181,680,434	I10V	probably damaging	Het
Tlr3	C	T	8: 45,398,814	D349N	possibly damaging	Het
Top2a	C	T	11: 99,022,376	V77I	probably benign	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Vrk1	A	G	12: 106,051,765	K98E	possibly damaging	Het
Zcchc2	C	T	1: 106,030,592	T931I	possibly damaging	Het
Zfc3h1	T	A	10: 115,410,693	L895H	probably damaging	Het
Zfp101	T	C	17: 33,382,344	E108G	probably benign	Het
Zfp609	A	G	9: 65,702,855	V942A	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
IGL02275:Casc1	APN	6	145177364	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
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
X0063:Casc1	UTSW	6	145175271	missense	probably benign	0.13
Z1176:Casc1	UTSW	6	145205293	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTTAGCTGAGAGGAACCTGGG -3'
(R):5'- AGCTTCCAGAAGAGTCCCAAG -3'

Sequencing Primer
(F):5'- TCCTGGTGTTTTCCCTGACACAG -3'
(R):5'- GACAGACCAGAGGCATTATTTAGTG -3'

Posted On

2016-10-05