Mutagenetix > Incidental Mutation

Incidental Mutation 'R4691:Cables1'

354948

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

041942-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.620) question?

Stock #

R4691 (G1)

Quality Score

147

Status

Validated

Chromosome

Chromosomal Location

11972600-12078681 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 11973580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 240 (Q240*)

Ref Sequence

ENSEMBL: ENSMUSP00000129463 (fasta)

Gene Model

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

AlphaFold

Q9ESJ1

Predicted Effect

probably null
Transcript: ENSMUST00000046948
AA Change: Q240*

SMART Domains

Protein: ENSMUSP00000040639
Gene: ENSMUSG00000040957
AA Change: Q240*

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

noncoding transcript
Transcript: ENSMUST00000122616

Predicted Effect

probably null
Transcript: ENSMUST00000171109
AA Change: Q240*

SMART Domains

Protein: ENSMUSP00000129463
Gene: ENSMUSG00000040957
AA Change: Q240*

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: ENSMUST00000180860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225430

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (70/72)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,384,195 (GRCm39)	R3882S	probably damaging	Het
Adamts2	G	T	11: 50,647,523 (GRCm39)	V299F	probably damaging	Het
Ankrd50	A	G	3: 38,537,159 (GRCm39)	S65P	probably benign	Het
Ap4e1	T	C	2: 126,903,791 (GRCm39)	C898R	probably benign	Het
Arel1	A	T	12: 84,977,023 (GRCm39)		probably null	Het
Bag6	T	A	17: 35,358,224 (GRCm39)	V164D	probably damaging	Het
C2cd5	A	G	6: 142,975,874 (GRCm39)	S769P	possibly damaging	Het
Ccnb1-ps	T	A	7: 41,755,516 (GRCm39)		noncoding transcript	Het
Ccz1	A	T	5: 143,928,380 (GRCm39)	I390N	possibly damaging	Het
Ceacam23	T	A	7: 17,642,891 (GRCm39)	S434T	possibly damaging	Het
Ces1a	T	C	8: 93,759,287 (GRCm39)	H283R	probably benign	Het
Clca3b	G	A	3: 144,544,853 (GRCm39)	T378I	probably benign	Het
Cpne2	A	T	8: 95,284,849 (GRCm39)	I342F	probably damaging	Het
Cyp2d9	A	G	15: 82,340,033 (GRCm39)	D141G	probably damaging	Het
Ddias	T	A	7: 92,508,024 (GRCm39)	K630N	probably damaging	Het
Dennd4b	A	G	3: 90,179,619 (GRCm39)	T626A	probably damaging	Het
Disc1	T	C	8: 125,875,186 (GRCm39)	V554A	possibly damaging	Het
Dnah10	A	G	5: 124,852,581 (GRCm39)	T1880A	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Epop	C	T	11: 97,519,719 (GRCm39)	G130D	possibly damaging	Het
Erap1	T	C	13: 74,821,811 (GRCm39)	L722P	probably damaging	Het
Eya4	T	A	10: 23,015,966 (GRCm39)	T334S	probably benign	Het
Ezr	T	C	17: 7,026,961 (GRCm39)	I5V	probably benign	Het
Fam53c	A	C	18: 34,901,743 (GRCm39)	E220A	probably damaging	Het
Galnt12	T	C	4: 47,104,143 (GRCm39)	S134P	probably damaging	Het
Gcfc2	T	A	6: 81,918,408 (GRCm39)	L366*	probably null	Het
Gins4	T	A	8: 23,727,075 (GRCm39)	D6V	probably benign	Het
Grid1	A	G	14: 35,291,514 (GRCm39)	H807R	probably benign	Het
H2-T22	GTTTT	GTTT	17: 36,352,462 (GRCm39)		probably null	Het
Ighv1-66	T	C	12: 115,556,929 (GRCm39)	Y51C	probably benign	Het
Inpp4b	A	T	8: 82,849,282 (GRCm39)	Y901F	probably damaging	Het
Irf2	T	A	8: 47,299,222 (GRCm39)	S339T	probably damaging	Het
Itgae	G	T	11: 73,010,345 (GRCm39)	G612*	probably null	Het
Kdr	T	C	5: 76,105,259 (GRCm39)	K1037R	possibly damaging	Het
Mro	A	T	18: 74,006,397 (GRCm39)	M115L	probably benign	Het
Myo5a	A	G	9: 75,087,438 (GRCm39)	E1098G	probably damaging	Het
Nkx2-1	T	A	12: 56,580,350 (GRCm39)	M197L	probably benign	Het
Or7e165	T	C	9: 19,694,678 (GRCm39)	I83T	probably benign	Het
Pank2	T	A	2: 131,138,201 (GRCm39)	F430L	possibly damaging	Het
Pcx	T	A	19: 4,669,505 (GRCm39)	V794E	probably damaging	Het
Pdgfd	C	T	9: 6,288,556 (GRCm39)	P70L	probably damaging	Het
Pla2g4e	T	C	2: 120,004,781 (GRCm39)	Y521C	probably damaging	Het
Pou5f1	T	A	17: 35,817,028 (GRCm39)	F11Y	probably damaging	Het
Prdm9	A	G	17: 15,773,640 (GRCm39)	M252T	probably benign	Het
Ptk2b	C	T	14: 66,394,518 (GRCm39)	G859S	probably benign	Het
Rad51ap1	A	G	6: 126,904,516 (GRCm39)	S123P	probably benign	Het
Robo3	T	C	9: 37,336,514 (GRCm39)	E418G	probably damaging	Het
Sos2	C	T	12: 69,663,102 (GRCm39)	R631H	probably damaging	Het
Sp140l1	C	T	1: 85,066,521 (GRCm39)		probably benign	Het
St3gal2	C	T	8: 111,684,417 (GRCm39)	T25I	probably benign	Het
Stra6l	G	A	4: 45,882,851 (GRCm39)	A521T	probably benign	Het
Syt7	T	A	19: 10,403,845 (GRCm39)	L177Q	probably damaging	Het
Tet2	T	A	3: 133,191,844 (GRCm39)	Q863H	possibly damaging	Het
Tmem232	T	C	17: 65,572,237 (GRCm39)	K585E	possibly damaging	Het
Trpc6	A	C	9: 8,652,979 (GRCm39)	E595A	probably damaging	Het
Txnl1	A	G	18: 63,804,750 (GRCm39)	V248A	possibly damaging	Het
Vmn2r72	A	T	7: 85,387,119 (GRCm39)	L815*	probably null	Het
Vmn2r81	C	T	10: 79,129,211 (GRCm39)	Q701*	probably null	Het
Vps13c	T	C	9: 67,860,217 (GRCm39)	V2811A	possibly damaging	Het
Vsig10l2	T	C	9: 35,428,158 (GRCm39)	S106G	possibly damaging	Het
Zfp354a	A	G	11: 50,961,064 (GRCm39)	E425G	probably damaging	Het
Zfp617	A	T	8: 72,686,659 (GRCm39)	T330S	probably benign	Het
Zfp663	G	T	2: 165,201,050 (GRCm39)		probably benign	Het
Zfp84	T	C	7: 29,476,505 (GRCm39)	L399P	probably damaging	Het
Zfp869	A	T	8: 70,159,513 (GRCm39)	C353*	probably null	Het
Zscan22	C	T	7: 12,640,488 (GRCm39)	A85V	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACGATGCCTTCACCAACGTG -3'
(R):5'- CCAAAGCAAGAGCATGGTGC -3'

Sequencing Primer
(F):5'- AACGTGCAGGTGCCATC -3'
(R):5'- CTCTGCTAGTGCCGGGTTC -3'

Posted On

2015-10-21