Mutagenetix > Incidental Mutation

Incidental Mutation 'R5286:Cables1'

424383

Institutional Source

Beutler Lab

Gene Symbol

Cables1

Ensembl Gene

ENSMUSG00000040957

Gene Name

CDK5 and Abl enzyme substrate 1

Synonyms

ik3-1, interactor-1 with cdk3

MMRRC Submission

042870-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.620) question?

Stock #

R5286 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11972600-12078681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12057884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 335 (T335A)

Ref Sequence

ENSEMBL: ENSMUSP00000040639 (fasta)

Gene Model

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

AlphaFold

Q9ESJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000046948
AA Change: T335A

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000040639
Gene: ENSMUSG00000040957
AA Change: T335A

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 benign
Transcript: ENSMUST00000171109
AA Change: T361A

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000129463
Gene: ENSMUSG00000040957
AA Change: T361A

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

Meta Mutation Damage Score

0.0939

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (64/64)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,742,358 (GRCm39)	I417V	probably benign	Het
Adad1	T	C	3: 37,119,399 (GRCm39)	V160A	possibly damaging	Het
Adcy7	A	G	8: 89,051,487 (GRCm39)	E869G	probably damaging	Het
Birc6	G	A	17: 74,977,242 (GRCm39)	A4352T	probably damaging	Het
Brd2	T	A	17: 34,334,205 (GRCm39)	T286S	probably damaging	Het
Bsn	G	T	9: 107,988,123 (GRCm39)		probably benign	Het
Cacna1d	A	T	14: 30,072,682 (GRCm39)	S98T	possibly damaging	Het
Ccdc181	A	G	1: 164,105,810 (GRCm39)	Y15C	probably damaging	Het
Dlgap4	T	G	2: 156,587,839 (GRCm39)	V39G	probably damaging	Het
Epb41l3	G	A	17: 69,569,268 (GRCm39)	R504H	probably benign	Het
Fbxo7	T	C	10: 85,857,954 (GRCm39)	L23P	probably damaging	Het
Gm42791	A	C	5: 148,887,178 (GRCm39)		probably benign	Het
Gprc5b	A	T	7: 118,582,910 (GRCm39)	F320I	possibly damaging	Het
Gtf3c1	G	A	7: 125,262,580 (GRCm39)	T1093M	possibly damaging	Het
Hddc3	G	T	7: 79,993,543 (GRCm39)	R83L	probably damaging	Het
Iars2	T	C	1: 185,055,318 (GRCm39)		probably benign	Het
Ift25	T	A	4: 107,136,998 (GRCm39)	I132N	probably damaging	Het
Igfn1	T	C	1: 135,895,599 (GRCm39)	K1656E	probably benign	Het
Itk	A	C	11: 46,228,926 (GRCm39)		probably null	Het
Klra6	G	A	6: 129,995,932 (GRCm39)	T142I	probably benign	Het
Knop1	C	T	7: 118,454,993 (GRCm39)	A3T	probably damaging	Het
Lamc3	A	G	2: 31,808,608 (GRCm39)	H788R	probably damaging	Het
Lrif1	A	G	3: 106,639,859 (GRCm39)	R315G	probably damaging	Het
Mfap3l	A	G	8: 61,109,903 (GRCm39)	D93G	probably benign	Het
Ngef	T	C	1: 87,473,552 (GRCm39)	S77G	probably benign	Het
Nt5dc3	T	C	10: 86,640,656 (GRCm39)	S13P	probably benign	Het
Or9s13	T	C	1: 92,548,084 (GRCm39)	V152A	probably benign	Het
Pclo	T	C	5: 14,729,761 (GRCm39)		probably benign	Het
Pkhd1l1	C	T	15: 44,378,368 (GRCm39)	Q1041*	probably null	Het
Ppl	G	A	16: 4,906,987 (GRCm39)	R1103*	probably null	Het
Ppp4r3b	T	A	11: 29,161,667 (GRCm39)	D680E	probably benign	Het
Rasgrf2	T	G	13: 92,267,941 (GRCm39)	K21T	possibly damaging	Het
Rev1	T	A	1: 38,094,407 (GRCm39)	K1004*	probably null	Het
Rgs9	T	G	11: 109,130,277 (GRCm39)		probably null	Het
Rnf31	T	C	14: 55,829,693 (GRCm39)	L86P	probably damaging	Het
Rps13	A	G	7: 115,933,155 (GRCm39)	Y18H	probably damaging	Het
Rxfp2	T	C	5: 149,958,909 (GRCm39)	F33S	probably damaging	Het
Sfmbt1	G	A	14: 30,538,777 (GRCm39)	V799M	probably damaging	Het
Stard9	T	A	2: 120,532,428 (GRCm39)	V2895D	probably benign	Het
Syn3	T	C	10: 86,187,428 (GRCm39)	N232S	possibly damaging	Het
Taok3	T	A	5: 117,404,140 (GRCm39)	Y772N	probably damaging	Het
Tspan4	A	G	7: 141,062,483 (GRCm39)		probably null	Het
Ttn	C	A	2: 76,684,530 (GRCm39)		probably benign	Het
Vwa3b	T	A	1: 37,084,120 (GRCm39)	W98R	probably damaging	Het
Vwa5b2	A	T	16: 20,415,058 (GRCm39)	D360V	probably damaging	Het
Wdr73	A	T	7: 80,541,557 (GRCm39)	D328E	probably benign	Het
Xpo5	A	G	17: 46,545,406 (GRCm39)	N824S	probably benign	Het
Zbtb2	C	T	10: 4,318,566 (GRCm39)	G487S	possibly damaging	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
IGL01373:Cables1	APN	18	12,021,821 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- ATGTAGCACACATTTGGCACAAG -3'
(R):5'- ATCTGCCCTGTAAAGCAAGG -3'

Sequencing Primer
(F):5'- GTGGATACCAAACGAGCTGTGTTTTC -3'
(R):5'- GGCAACTCCCTACTTTGAACC -3'

Posted On

2016-08-04