Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01373:Cables1'

84097

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cables1

Ensembl Gene

ENSMUSG00000040957

Gene Name

CDK5 and Abl enzyme substrate 1

Synonyms

ik3-1, interactor-1 with cdk3

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.596) question?

Stock #

IGL01373

Quality Score

Status

Chromosome

Chromosomal Location

11972600-12078681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12021821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 276 (R276S)

Ref Sequence

ENSEMBL: ENSMUSP00000129463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046948] [ENSMUST00000171109]

AlphaFold

Q9ESJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000046948
AA Change: R276S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040639
Gene: ENSMUSG00000040957
AA Change: R276S

Domain	Start	End	E-Value	Type
low complexity region	2	31	N/A	INTRINSIC
low complexity region	34	46	N/A	INTRINSIC
low complexity region	81	88	N/A	INTRINSIC
low complexity region	93	102	N/A	INTRINSIC
low complexity region	108	138	N/A	INTRINSIC
low complexity region	184	201	N/A	INTRINSIC
low complexity region	238	253	N/A	INTRINSIC
CYCLIN	456	544	1.83e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000171109
AA Change: R276S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129463
Gene: ENSMUSG00000040957
AA Change: R276S

Domain	Start	End	E-Value	Type
low complexity region	2	31	N/A	INTRINSIC
low complexity region	34	46	N/A	INTRINSIC
low complexity region	81	88	N/A	INTRINSIC
low complexity region	93	102	N/A	INTRINSIC
low complexity region	108	138	N/A	INTRINSIC
low complexity region	184	201	N/A	INTRINSIC
low complexity region	238	253	N/A	INTRINSIC
CYCLIN	482	570	1.83e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225430

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous null females exhibited reduced fertility and uterine hyperplasia. With chronic exposure to estrogen, homozygous females develop endometrial adenocarcinoma. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	C	T	7: 119,310,642 (GRCm39)	R510*	probably null	Het
Adamts12	A	T	15: 11,310,816 (GRCm39)	E1024D	probably benign	Het
Aff2	T	A	X: 68,911,335 (GRCm39)	D1239E	possibly damaging	Het
Agps	T	C	2: 75,683,128 (GRCm39)	V151A	probably benign	Het
Cep72	A	G	13: 74,207,578 (GRCm39)	S64P	probably damaging	Het
Cmah	A	T	13: 24,614,532 (GRCm39)	D159V	probably damaging	Het
Cox6a1	C	A	5: 115,483,898 (GRCm39)		probably benign	Het
Cpxm1	T	C	2: 130,236,055 (GRCm39)	E369G	probably damaging	Het
Dnah6	A	G	6: 73,051,731 (GRCm39)	L3021P	probably benign	Het
Esyt1	T	C	10: 128,354,810 (GRCm39)	E530G	possibly damaging	Het
Fancd2	A	G	6: 113,530,713 (GRCm39)	I449V	probably benign	Het
Fbxw24	C	T	9: 109,452,701 (GRCm39)	G98D	probably damaging	Het
Folh1	T	C	7: 86,395,350 (GRCm39)	I361V	probably benign	Het
Gpr19	T	A	6: 134,847,284 (GRCm39)	H41L	possibly damaging	Het
Kcnq4	A	G	4: 120,574,229 (GRCm39)	V143A	probably damaging	Het
Larp7-ps	A	G	4: 92,079,862 (GRCm39)	V42A	probably damaging	Het
Lmcd1	A	G	6: 112,287,586 (GRCm39)	I91V	probably benign	Het
Lpin3	G	T	2: 160,745,649 (GRCm39)	D651Y	probably damaging	Het
Ms4a6b	A	T	19: 11,506,871 (GRCm39)	H220L	possibly damaging	Het
Mxd4	G	A	5: 34,341,690 (GRCm39)		probably benign	Het
Nxnl2	T	C	13: 51,325,488 (GRCm39)	F44L	probably damaging	Het
Or11g2	T	A	14: 50,856,069 (GRCm39)	I130N	probably damaging	Het
Or2ag16	T	C	7: 106,351,653 (GRCm39)		probably benign	Het
Pcdhb20	A	T	18: 37,639,621 (GRCm39)	R716W	probably benign	Het
Pcx	T	A	19: 4,670,263 (GRCm39)		probably null	Het
Plekhf1	T	C	7: 37,921,221 (GRCm39)	T116A	probably benign	Het
Psmb2	G	T	4: 126,580,885 (GRCm39)	R93L	probably damaging	Het
Pstpip2	T	A	18: 77,922,916 (GRCm39)	L42*	probably null	Het
Ptpn22	A	T	3: 103,793,520 (GRCm39)	D557V	probably damaging	Het
Rbbp5	G	A	1: 132,420,339 (GRCm39)	V191I	probably benign	Het
Rgs1	T	A	1: 144,121,116 (GRCm39)	D185V	probably damaging	Het
Selenoh	A	G	2: 84,500,938 (GRCm39)		probably benign	Het
Slc6a5	C	T	7: 49,567,481 (GRCm39)	P312S	probably benign	Het
Snapc1	T	A	12: 74,011,454 (GRCm39)	M40K	probably benign	Het
Sptbn2	T	G	19: 4,796,000 (GRCm39)	Y1726*	probably null	Het
Syne2	T	C	12: 76,033,881 (GRCm39)	I3710T	probably damaging	Het
Tdrd9	G	A	12: 112,006,868 (GRCm39)	V911M	probably damaging	Het
Tex9	A	T	9: 72,388,036 (GRCm39)	D134E	possibly damaging	Het
Ttc41	G	T	10: 86,611,821 (GRCm39)	C1063F	possibly damaging	Het
Usp38	C	A	8: 81,716,647 (GRCm39)	A496S	possibly damaging	Het
Vmn2r13	T	A	5: 109,304,568 (GRCm39)	Y621F	probably damaging	Het
Vmn2r67	T	A	7: 84,785,834 (GRCm39)	M724L	probably benign	Het

Other mutations in Cables1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01289:Cables1	APN	18	12,077,621 (GRCm39)	missense	probably damaging	0.99
R0058:Cables1	UTSW	18	12,056,470 (GRCm39)	missense	possibly damaging	0.80
R0058:Cables1	UTSW	18	12,056,470 (GRCm39)	missense	possibly damaging	0.80
R2886:Cables1	UTSW	18	12,072,789 (GRCm39)	missense	possibly damaging	0.80
R4691:Cables1	UTSW	18	11,973,580 (GRCm39)	nonsense	probably null
R4845:Cables1	UTSW	18	12,077,545 (GRCm39)	missense	probably damaging	0.99
R4964:Cables1	UTSW	18	12,074,334 (GRCm39)	missense	possibly damaging	0.92
R5286:Cables1	UTSW	18	12,057,884 (GRCm39)	missense	probably benign	0.11
R5756:Cables1	UTSW	18	12,074,410 (GRCm39)	missense	probably damaging	1.00
R6755:Cables1	UTSW	18	12,072,882 (GRCm39)	missense	probably null	1.00
R7162:Cables1	UTSW	18	12,059,423 (GRCm39)	critical splice donor site	probably null
R7242:Cables1	UTSW	18	11,973,064 (GRCm39)	missense	possibly damaging	0.93
R7410:Cables1	UTSW	18	12,074,282 (GRCm39)	missense	probably benign
R7411:Cables1	UTSW	18	11,973,572 (GRCm39)	missense	probably benign	0.01
R7965:Cables1	UTSW	18	11,973,269 (GRCm39)	missense	probably benign	0.06
R8765:Cables1	UTSW	18	12,056,422 (GRCm39)	missense	probably benign	0.01
R9167:Cables1	UTSW	18	12,039,029 (GRCm39)	missense	possibly damaging	0.95
Z1177:Cables1	UTSW	18	12,074,374 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-11