Mutagenetix > Incidental Mutation

Incidental Mutation 'R7410:Cables1'

575047

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

045491-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.620) question?

Stock #

R7410 (G1)

Quality Score

215.009

Status

Not validated

Chromosome

Chromosomal Location

11972600-12078681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12074282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 494 (F494L)

Ref Sequence

ENSEMBL: ENSMUSP00000129463 (fasta)

Gene Model

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

AlphaFold

Q9ESJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000046948
AA Change: F468L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000040639
Gene: ENSMUSG00000040957
AA Change: F468L

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: F494L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129463
Gene: ENSMUSG00000040957
AA Change: F494L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,512,551 (GRCm39)	S3P	unknown	Het
Adgrv1	A	T	13: 81,711,738 (GRCm39)	D1079E	probably benign	Het
Agbl5	A	T	5: 31,048,032 (GRCm39)	Y102F	possibly damaging	Het
Ankfy1	T	C	11: 72,652,330 (GRCm39)	L1094S	probably damaging	Het
Ankrd42	A	T	7: 92,259,762 (GRCm39)	V337E	possibly damaging	Het
Axl	A	G	7: 25,458,208 (GRCm39)	L849P	probably benign	Het
Bmpr2	T	C	1: 59,907,652 (GRCm39)	I915T	probably benign	Het
Cacna1e	A	C	1: 154,347,980 (GRCm39)	V927G	probably benign	Het
Cavin1	A	T	11: 100,849,670 (GRCm39)	V320E	probably damaging	Het
Cemip	T	G	7: 83,602,042 (GRCm39)	S916R	probably damaging	Het
Cep57	G	A	9: 13,729,980 (GRCm39)		probably benign	Het
Ces1d	T	C	8: 93,919,433 (GRCm39)	N120D	probably damaging	Het
Cfap44	A	T	16: 44,288,776 (GRCm39)	S1509C	probably damaging	Het
Chga	A	G	12: 102,528,866 (GRCm39)	D281G	probably benign	Het
Clstn2	A	G	9: 97,423,920 (GRCm39)	F282L	probably benign	Het
Cnot1	A	T	8: 96,459,787 (GRCm39)	V1855E	possibly damaging	Het
Cnr1	T	A	4: 33,944,119 (GRCm39)	V169D	probably damaging	Het
Cpd	T	A	11: 76,673,134 (GRCm39)	H1337L	probably damaging	Het
Crabp2	T	A	3: 87,859,585 (GRCm39)	D78E	probably damaging	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cyp2ab1	G	A	16: 20,135,475 (GRCm39)	A9V	probably benign	Het
Cyp3a41b	T	C	5: 145,514,967 (GRCm39)	D86G	probably damaging	Het
Dner	T	A	1: 84,563,332 (GRCm39)	D96V	probably damaging	Het
Duox1	C	A	2: 122,176,874 (GRCm39)	T1465N	probably damaging	Het
Ehd3	T	A	17: 74,112,428 (GRCm39)	V64E	probably benign	Het
Ehmt1	A	G	2: 24,738,080 (GRCm39)	V508A	probably benign	Het
Ephb3	G	A	16: 21,040,158 (GRCm39)	V761I	possibly damaging	Het
Fam161b	T	C	12: 84,404,575 (GRCm39)	Q35R	probably benign	Het
Fam186a	T	A	15: 99,844,826 (GRCm39)	K473*	probably null	Het
Fam227b	A	T	2: 125,960,983 (GRCm39)	D215E	probably damaging	Het
Fkbp15	C	A	4: 62,258,536 (GRCm39)	D144Y	probably damaging	Het
Galt	T	C	4: 41,757,707 (GRCm39)	I259T	possibly damaging	Het
Gbp11	G	A	5: 105,491,774 (GRCm39)	P8S	probably damaging	Het
Gfap	A	T	11: 102,783,963 (GRCm39)	M339K	probably damaging	Het
Gm14443	C	T	2: 175,011,069 (GRCm39)	R459Q	possibly damaging	Het
Grip1	A	G	10: 119,855,925 (GRCm39)	N632S	probably benign	Het
H4c18	G	A	13: 22,016,211 (GRCm39)	R40W	probably damaging	Het
Hcar1	T	G	5: 124,017,161 (GRCm39)	I177L	possibly damaging	Het
Ighv1-37	A	G	12: 114,860,099 (GRCm39)	V37A	probably damaging	Het
Ilf3	T	A	9: 21,311,100 (GRCm39)	F657L	unknown	Het
Ints2	T	G	11: 86,124,052 (GRCm39)	T579P	probably benign	Het
Iqgap1	G	T	7: 80,372,778 (GRCm39)	Y1520*	probably null	Het
Kdm4a	T	C	4: 118,001,115 (GRCm39)	H884R	possibly damaging	Het
Krtap19-1	A	T	16: 88,666,132 (GRCm39)	Y52N	unknown	Het
Lama5	A	T	2: 179,844,183 (GRCm39)		probably null	Het
Lrrc72	T	C	12: 36,272,803 (GRCm39)	N89D	probably damaging	Het
Med13l	A	G	5: 118,698,897 (GRCm39)	D16G	possibly damaging	Het
Mefv	A	G	16: 3,533,545 (GRCm39)	L242P	probably damaging	Het
Mob3c	T	C	4: 115,688,784 (GRCm39)	Y106H	probably damaging	Het
Nlrp1a	A	G	11: 71,014,683 (GRCm39)	I189T	probably damaging	Het
Nudt7	T	C	8: 114,860,559 (GRCm39)		probably benign	Het
Or13p10	T	C	4: 118,523,629 (GRCm39)	L305P	probably benign	Het
Or4f7	T	A	2: 111,644,271 (GRCm39)	I267L	probably benign	Het
Pappa	A	G	4: 65,253,956 (GRCm39)	T1537A	probably damaging	Het
Pik3r4	T	A	9: 105,527,790 (GRCm39)	V381E	probably damaging	Het
Pkd1	T	A	17: 24,794,855 (GRCm39)	Y2181N	probably damaging	Het
Pmel	G	T	10: 128,552,353 (GRCm39)	V396F	probably benign	Het
Prdm9	A	G	17: 15,765,259 (GRCm39)	I507T	possibly damaging	Het
Psme4	C	T	11: 30,765,279 (GRCm39)	Q549*	probably null	Het
Ptprg	T	A	14: 11,962,657 (GRCm38)	W152R	probably damaging	Het
Ptprm	A	C	17: 67,000,561 (GRCm39)	V1141G	probably damaging	Het
Rapgef5	G	A	12: 117,685,063 (GRCm39)	V505M	probably damaging	Het
Rnf213	T	A	11: 119,325,877 (GRCm39)	M1558K		Het
Slc35a1	A	G	4: 34,675,034 (GRCm39)	V168A	probably benign	Het
Srebf1	T	C	11: 60,096,693 (GRCm39)	T347A	probably benign	Het
Stard9	T	A	2: 120,531,978 (GRCm39)	V2745D	probably benign	Het
Taar7e	A	T	10: 23,914,424 (GRCm39)	T305S	probably benign	Het
Tie1	T	C	4: 118,337,074 (GRCm39)	S551G	probably benign	Het
Tmc5	T	A	7: 118,222,820 (GRCm39)	Y173*	probably null	Het
Tns2	T	A	15: 102,018,961 (GRCm39)	V384D	probably damaging	Het
Tubgcp4	T	A	2: 121,014,890 (GRCm39)	Y267N	probably damaging	Het
Vmn1r53	A	G	6: 90,200,700 (GRCm39)	V208A	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdfy4	T	C	14: 32,696,191 (GRCm39)	D2784G		Het
Zfp712	A	C	13: 67,189,400 (GRCm39)	S376A	probably benign	Het
Znrf3	C	T	11: 5,238,955 (GRCm39)	C232Y	unknown	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
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
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'- CAGCTACATGGTTTGCTCCCAC -3'
(R):5'- TTAGCCATTAAGGTGCCCGG -3'

Sequencing Primer
(F):5'- TACATGGTTTGCTCCCACATCCC -3'
(R):5'- ACAGCCATCGAGCGCAG -3'

Posted On

2019-10-07