Mutagenetix > Incidental Mutation

Incidental Mutation 'R8385:Casc1'

647116

Institutional Source

Beutler Lab

Gene Symbol

Casc1

Ensembl Gene

ENSMUSG00000043541

Gene Name

cancer susceptibility candidate 1

Synonyms

A230084G12Rik, Las1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R8385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

145174834-145211005 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 145175192 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 685 (E685K)

Ref Sequence

ENSEMBL: ENSMUSP00000062279 (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: E685K

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

SMART Domains

Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541
AA Change: E685K

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

probably damaging
Transcript: ENSMUST00000111728
AA Change: E634K

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

SMART Domains

Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541
AA Change: E634K

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

probably benign
Transcript: ENSMUST00000135984

Predicted Effect

probably benign
Transcript: ENSMUST00000204105

SMART Domains

Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930572O03Rik	A	T	5: 15,652,671	S203T	unknown	Het
4933406M09Rik	A	G	1: 134,390,638	K383E	probably benign	Het
Brap	C	T	5: 121,685,134	T473I	probably benign	Het
Cacna1e	T	A	1: 154,443,941	M1400L	probably damaging	Het
Catsper2	A	G	2: 121,410,140	I127T	possibly damaging	Het
Dbt	A	T	3: 116,523,390	I72F	probably damaging	Het
Ddhd2	T	C	8: 25,735,014	H592R	probably damaging	Het
Disp2	T	A	2: 118,790,410	M541K	probably damaging	Het
Dnmbp	T	C	19: 43,889,651	D327G	probably benign	Het
Dvl1	A	G	4: 155,855,580	S390G	possibly damaging	Het
Fam205a1	C	T	4: 42,850,509	R549H	possibly damaging	Het
Fbxo22	A	G	9: 55,213,949	D106G	probably damaging	Het
Gfm2	A	G	13: 97,165,011	T441A	probably benign	Het
Gm5431	T	C	11: 48,889,520	I192V	probably damaging	Het
Gosr1	T	A	11: 76,730,141	T241S	possibly damaging	Het
Hk2	T	C	6: 82,729,546	S792G	probably benign	Het
Itsn1	A	C	16: 91,893,811	K1302Q	unknown	Het
Kif16b	T	C	2: 142,712,338	K847E	probably benign	Het
Lfng	G	A	5: 140,613,226	E297K	probably damaging	Het
Mark3	A	G	12: 111,655,374	D650G	possibly damaging	Het
Mob3b	T	C	4: 34,985,980	Y186C	probably damaging	Het
Mphosph9	T	C	5: 124,312,722	K329E	probably benign	Het
Mta1	A	T	12: 113,131,465	M448L	probably benign	Het
Mterf1a	A	T	5: 3,891,384	N161K	probably damaging	Het
Myo10	T	A	15: 25,804,398	I1593N	probably damaging	Het
Naca	A	G	10: 128,042,438	N1113S	unknown	Het
Olfr1362	T	C	13: 21,611,352	I206V	probably benign	Het
Olfr513	T	G	7: 108,755,304	Y149*	probably null	Het
Pcdhga1	A	T	18: 37,662,096	D51V	probably damaging	Het
Peg3	T	C	7: 6,708,083	E1380G	probably damaging	Het
Pkd1	G	A	17: 24,575,728	V2130M	possibly damaging	Het
Pla2g4c	C	T	7: 13,329,664	P19S	probably benign	Het
Popdc2	G	A	16: 38,362,900	V82I	probably benign	Het
Ppfibp2	A	G	7: 107,697,687	R203G	probably benign	Het
Rab19	T	A	6: 39,383,958	N13K	probably benign	Het
Raet1d	T	A	10: 22,370,918	D48E	probably benign	Het
Rell1	T	A	5: 63,930,518	K136*	probably null	Het
Slc38a4	A	G	15: 96,999,512	I474T	probably damaging	Het
Slf1	T	C	13: 77,105,990	M243V	probably benign	Het
Spg11	A	T	2: 122,097,321	S661T	probably benign	Het
Thra	C	G	11: 98,768,351	S435R	probably benign	Het
Tmem181a	T	C	17: 6,288,999	I61T	probably benign	Het
Ttpa	G	A	4: 20,028,483	G247S	probably damaging	Het
Usp17lb	C	T	7: 104,840,623	V366I	possibly damaging	Het
Vit	A	T	17: 78,619,637	Q337L	probably benign	Het
Vmn2r102	A	G	17: 19,693,826	Y551C	possibly damaging	Het
Vps52	T	C	17: 33,962,817	L539P	probably damaging	Het
Ythdc1	C	A	5: 86,828,102	P529T	possibly damaging	Het
Zdhhc13	T	C	7: 48,805,696		probably null	Het
Zfp282	A	T	6: 47,905,089	Y570F	possibly damaging	Het
Zfp872	A	T	9: 22,200,111	K295N	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACACACGCTGTAAGGGCTAG -3'
(R):5'- TGAGAGACTTATCTGCAAGCTG -3'

Sequencing Primer
(F):5'- CGCTGTAAGGGCTAGGAATAGC -3'
(R):5'- GGTACCCAGCAGTTCCATC -3'

Posted On

2020-09-02