Mutagenetix > Incidental Mutation

Incidental Mutation 'R5756:Cables1'

445074

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

043359-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.596) question?

Stock #

R5756 (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 12074410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 511 (D511G)

Ref Sequence

ENSEMBL: ENSMUSP00000040639 (fasta)

Gene Model

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

AlphaFold

Q9ESJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000046948
AA Change: D511G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040639
Gene: ENSMUSG00000040957
AA Change: D511G

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: D537G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129463
Gene: ENSMUSG00000040957
AA Change: D537G

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

0.6791

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (60/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	A	G	9: 89,010,919 (GRCm39)		noncoding transcript	Het
Aqp6	A	T	15: 99,500,623 (GRCm39)	I183F	probably damaging	Het
Asap1	A	T	15: 64,039,556 (GRCm39)	M218K	probably damaging	Het
Astn2	G	A	4: 66,037,425 (GRCm39)		probably benign	Het
Bmp5	A	G	9: 75,683,649 (GRCm39)	D92G	probably benign	Het
Cacna1e	A	G	1: 154,347,383 (GRCm39)	M928T	probably benign	Het
Calcoco1	T	C	15: 102,628,086 (GRCm39)	N16S	probably benign	Het
Catspere2	A	T	1: 177,943,793 (GRCm39)	Q710L	unknown	Het
Coro7	C	T	16: 4,450,148 (GRCm39)	R567Q	probably damaging	Het
Dgki	C	T	6: 36,913,993 (GRCm39)		probably benign	Het
Dusp11	T	C	6: 85,929,339 (GRCm39)	I147V	probably damaging	Het
Eif2ak4	T	C	2: 118,293,221 (GRCm39)	I1259T	possibly damaging	Het
Elapor2	A	C	5: 9,512,995 (GRCm39)	K996N	probably damaging	Het
Etfdh	T	C	3: 79,521,063 (GRCm39)	I219V	probably benign	Het
Ffar4	C	T	19: 38,102,406 (GRCm39)	T347I	probably damaging	Het
Fgf3	G	A	7: 144,396,688 (GRCm39)	S234N	probably benign	Het
Fnta	A	T	8: 26,499,735 (GRCm39)	I155N	possibly damaging	Het
Gcm2	G	A	13: 41,263,372 (GRCm39)	T20M	probably damaging	Het
Ggt5	A	T	10: 75,440,607 (GRCm39)	M243L	probably benign	Het
Ggta1	T	C	2: 35,292,395 (GRCm39)	Y304C	probably damaging	Het
Gm5454	A	G	13: 103,492,855 (GRCm39)		noncoding transcript	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hrc	T	C	7: 44,986,130 (GRCm39)	V427A	possibly damaging	Het
Ibtk	C	G	9: 85,613,307 (GRCm39)	V219L	possibly damaging	Het
Ift140	A	G	17: 25,247,787 (GRCm39)	H215R	possibly damaging	Het
Itln1	A	G	1: 171,344,485 (GRCm39)		probably benign	Het
Kif13b	T	C	14: 64,973,754 (GRCm39)	I368T	probably damaging	Het
Lars2	T	C	9: 123,267,264 (GRCm39)	Y529H	probably damaging	Het
Lrrc55	G	A	2: 85,026,727 (GRCm39)	T99I	probably benign	Het
Mycbp2	A	T	14: 103,371,410 (GRCm39)	I4156N	probably damaging	Het
Myo1c	T	G	11: 75,549,240 (GRCm39)	M137R	probably benign	Het
Or51i1	T	C	7: 103,670,889 (GRCm39)	D212G	probably damaging	Het
Or6c8b	A	G	10: 128,882,095 (GRCm39)	V279A	probably benign	Het
Or8b54	T	A	9: 38,686,554 (GRCm39)	M1K	probably null	Het
Pde7a	A	G	3: 19,319,009 (GRCm39)	V12A	probably benign	Het
Phyhip	T	G	14: 70,704,532 (GRCm39)	C250W	probably damaging	Het
Pisd	G	A	5: 32,895,842 (GRCm39)	T412I	probably damaging	Het
Polr3c	T	C	3: 96,621,450 (GRCm39)	N444S	probably damaging	Het
Sart1	T	C	19: 5,430,497 (GRCm39)	E750G	probably damaging	Het
Sh3rf3	T	C	10: 58,940,204 (GRCm39)	V675A	probably damaging	Het
Slc4a11	G	T	2: 130,529,783 (GRCm39)	D307E	probably benign	Het
Slc6a16	A	T	7: 44,910,274 (GRCm39)	I315F	possibly damaging	Het
Smarca5	A	C	8: 81,437,233 (GRCm39)	S708A	probably benign	Het
Sv2c	T	C	13: 96,122,475 (GRCm39)	I434V	probably benign	Het
Tars3	A	G	7: 65,325,724 (GRCm39)	K433E	probably benign	Het
Tbx15	A	T	3: 99,220,402 (GRCm39)	I165F	probably damaging	Het
Tep1	C	T	14: 51,074,836 (GRCm39)		probably null	Het
Tex15	G	A	8: 34,065,861 (GRCm39)	G1764S	probably benign	Het
Tnfrsf19	A	G	14: 61,262,224 (GRCm39)	L13P	probably benign	Het
Tnnt3	G	A	7: 142,056,495 (GRCm39)		probably null	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Usp24	T	A	4: 106,219,680 (GRCm39)	I597K	probably damaging	Het
Usp40	C	T	1: 87,879,413 (GRCm39)	R960Q	possibly damaging	Het
Vps53	A	T	11: 75,983,156 (GRCm39)		probably benign	Het
Xylt1	C	T	7: 117,249,927 (GRCm39)	T699I	probably damaging	Het
Zfp81	A	C	17: 33,553,307 (GRCm39)	Y502*	probably null	Het
Zfyve26	T	A	12: 79,311,131 (GRCm39)	H145L	probably 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
R5286:Cables1	UTSW	18	12,057,884 (GRCm39)	missense	probably benign	0.11
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'- CTCTAGCCTGAAAAGAGAGATGC -3'
(R):5'- GGCTGTGCGAATAACTATCCC -3'

Sequencing Primer
(F):5'- CGGAAGCTTGCCCAGGAG -3'
(R):5'- TATCCCTCATGCTAGCTGAGAAAGG -3'

Posted On

2016-11-21