Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4486001:Cks1b'

556091

Institutional Source

Beutler Lab

Gene Symbol

Cks1b

Ensembl Gene

ENSMUSG00000028044

Gene Name

CDC28 protein kinase 1b

Synonyms

2610005D03Rik, Cks1, 2410005G18Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

PIT4486001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89322779-89325598 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 89323621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 49 (Q49H)

Ref Sequence

ENSEMBL: ENSMUSP00000029679 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029679] [ENSMUST00000039110] [ENSMUST00000050398] [ENSMUST00000107417] [ENSMUST00000107422] [ENSMUST00000107426] [ENSMUST00000107429] [ENSMUST00000125036] [ENSMUST00000128238] [ENSMUST00000129308] [ENSMUST00000154791] [ENSMUST00000162701] [ENSMUST00000183484] [ENSMUST00000191485]

AlphaFold

P61025

Predicted Effect

probably damaging
Transcript: ENSMUST00000029679
AA Change: Q49H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029679
Gene: ENSMUSG00000028044
AA Change: Q49H

Domain	Start	End	E-Value	Type
CKS	5	74	4.1e-48	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000039110

SMART Domains

Protein: ENSMUSP00000035361
Gene: ENSMUSG00000042626

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
PTB	47	211	2.15e-31	SMART
SH2	372	451	1.71e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000050398

SMART Domains

Protein: ENSMUSP00000051366
Gene: ENSMUSG00000042642

Domain	Start	End	E-Value	Type
MoCF_biosynth	19	180	7.52e-24	SMART
Pfam:PAPS_reduct	303	460	5.2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107417

SMART Domains

Protein: ENSMUSP00000103040
Gene: ENSMUSG00000042626

Domain	Start	End	E-Value	Type
PTB	2	166	2.15e-31	SMART
SH2	327	406	1.71e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107422
AA Change: Q27H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103045
Gene: ENSMUSG00000028044
AA Change: Q27H

Domain	Start	End	E-Value	Type
CKS	1	52	3.88e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107426

SMART Domains

Protein: ENSMUSP00000103049
Gene: ENSMUSG00000042642

Domain	Start	End	E-Value	Type
MoCF_biosynth	19	180	7.52e-24	SMART
Pfam:PAPS_reduct	303	460	4.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107429

SMART Domains

Protein: ENSMUSP00000103052
Gene: ENSMUSG00000042642

Domain	Start	End	E-Value	Type
MoCF_biosynth	19	174	2.06e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125036

SMART Domains

Protein: ENSMUSP00000115509
Gene: ENSMUSG00000042626

Domain	Start	End	E-Value	Type
PTB	1	155	1.5e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128238

SMART Domains

Protein: ENSMUSP00000119293
Gene: ENSMUSG00000042626

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
Pfam:PID	52	144	7.7e-19	PFAM
Pfam:PID	134	190	7.8e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129308

SMART Domains

Protein: ENSMUSP00000122252
Gene: ENSMUSG00000042642

Domain	Start	End	E-Value	Type
MoCF_biosynth	19	180	7.52e-24	SMART
Pfam:PAPS_reduct	303	460	4.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154791

SMART Domains

Protein: ENSMUSP00000123635
Gene: ENSMUSG00000042626

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
Pfam:PID	52	100	5.7e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162701

SMART Domains

Protein: ENSMUSP00000125654
Gene: ENSMUSG00000042642

Domain	Start	End	E-Value	Type
MoCF_biosynth	19	99	1.11e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183484

SMART Domains

Protein: ENSMUSP00000138900
Gene: ENSMUSG00000028044

Domain	Start	End	E-Value	Type
Pfam:CKS	5	36	2.4e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191485

SMART Domains

Protein: ENSMUSP00000140336
Gene: ENSMUSG00000042626

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
PTB	47	211	2.15e-31	SMART
SH2	372	451	1.71e-26	SMART

Coding Region Coverage

1x: 93.0%
3x: 90.5%
10x: 84.1%
20x: 70.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. At least two transcript variants have been identified for this gene, and it appears that only one of them encodes a protein. [provided by RefSeq, Sep 2008]
PHENOTYPE: Embryos homozygous for a knock-out allele exhibit a reduced body size that persists through adulthood while heterozygous mice are intermediate in size. Mutant mouse embryonic fibroblasts (MEFs) proliferate poorly and senesce earlier than wild-type MEFs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	C	5: 144,980,914 (GRCm39)	S108P	probably damaging	Het
Abhd16b	A	T	2: 181,135,752 (GRCm39)	Q218L	probably benign	Het
Abhd3	T	A	18: 10,645,233 (GRCm39)	I354F	probably benign	Het
Abt1	T	C	13: 23,607,851 (GRCm39)	Y51C	possibly damaging	Het
Actl9	T	A	17: 33,653,172 (GRCm39)	Y411N	possibly damaging	Het
Ano4	A	G	10: 88,828,891 (GRCm39)	V516A	probably damaging	Het
Bptf	A	T	11: 106,945,614 (GRCm39)	S2542T	probably damaging	Het
Card11	C	T	5: 140,862,163 (GRCm39)	V1045M	probably damaging	Het
Ccdc121	T	A	5: 31,645,087 (GRCm39)	I280K	probably damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cdh3	A	G	8: 107,268,122 (GRCm39)	K386E	possibly damaging	Het
Clpb	A	T	7: 101,313,139 (GRCm39)	D41V	probably benign	Het
Cyp3a11	A	T	5: 145,797,302 (GRCm39)	M359K	probably damaging	Het
Cyp3a13	A	T	5: 137,908,228 (GRCm39)	I207N	probably benign	Het
Dennd4c	T	A	4: 86,717,701 (GRCm39)	L566*	probably null	Het
Dhtkd1	A	T	2: 5,904,806 (GRCm39)	D859E	probably benign	Het
Efcab6	T	C	15: 83,857,514 (GRCm39)	D295G	probably benign	Het
Fcgbp	A	G	7: 27,774,698 (GRCm39)	T91A	possibly damaging	Het
Gm11569	GCAGCTGGGCCTGCAGCAGCTGGAAATGCAGCAGCTAGGACGGCAACA	GCA	11: 99,689,491 (GRCm39)		probably benign	Het
Gsdma3	A	G	11: 98,528,880 (GRCm39)	K454E	unknown	Het
Herc1	T	A	9: 66,279,671 (GRCm39)	I193N	probably damaging	Het
Kdm5b	T	A	1: 134,556,423 (GRCm39)	L1370Q	probably damaging	Het
Lrrc37	A	T	11: 103,509,027 (GRCm39)	H980Q	unknown	Het
Map4	T	G	9: 109,901,682 (GRCm39)	V965G	probably damaging	Het
Mkrn2os	T	C	6: 115,562,444 (GRCm39)	D173G	probably benign	Het
Ndfip2	A	G	14: 105,532,300 (GRCm39)	D232G	probably damaging	Het
Nipal2	C	T	15: 34,584,875 (GRCm39)	G231D	probably damaging	Het
Notch3	A	T	17: 32,373,737 (GRCm39)	N490K	probably damaging	Het
Or5p68	A	G	7: 107,945,529 (GRCm39)	S220P	possibly damaging	Het
Or8g50	T	A	9: 39,648,535 (GRCm39)	C141*	probably null	Het
Prkar2a	T	C	9: 108,610,326 (GRCm39)	L185S	probably damaging	Het
Ptpn9	T	G	9: 56,968,287 (GRCm39)	N542K	probably damaging	Het
Pus10	G	A	11: 23,662,326 (GRCm39)		probably null	Het
Pyroxd2	A	G	19: 42,728,828 (GRCm39)	S191P	probably benign	Het
Rab15	T	A	12: 76,848,716 (GRCm39)	K122*	probably null	Het
Rara	A	G	11: 98,864,321 (GRCm39)	N416S	possibly damaging	Het
Rims2	T	C	15: 39,339,916 (GRCm39)	V870A	possibly damaging	Het
Sec16a	T	C	2: 26,315,785 (GRCm39)	T293A		Het
Slc26a3	G	A	12: 31,520,949 (GRCm39)	D718N	probably benign	Het
Slc44a5	G	A	3: 153,964,659 (GRCm39)	V520I	possibly damaging	Het
Spata31e2	G	A	1: 26,724,410 (GRCm39)	P257S	probably damaging	Het
Tgfb2	A	T	1: 186,422,924 (GRCm39)	Y142N	probably benign	Het
Tgfbi	A	T	13: 56,777,607 (GRCm39)	I364F	probably damaging	Het
Tmem144	A	C	3: 79,734,174 (GRCm39)	D176E	probably benign	Het
Tns4	A	T	11: 98,962,161 (GRCm39)	L612Q	probably damaging	Het
Toe1	A	G	4: 116,663,692 (GRCm39)	L76S	probably damaging	Het
Trank1	T	C	9: 111,219,175 (GRCm39)	F1971L	probably damaging	Het
Tsen54	G	T	11: 115,713,422 (GRCm39)	V481F	probably damaging	Het
Uimc1	A	G	13: 55,223,381 (GRCm39)	L297P	probably damaging	Het
Wnt8a	T	C	18: 34,680,636 (GRCm39)	Y334H	probably damaging	Het
Zfp281	A	G	1: 136,554,741 (GRCm39)	D573G	possibly damaging	Het

Other mutations in Cks1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1164:Cks1b	UTSW	3	89,323,249 (GRCm39)	unclassified	probably benign
R5378:Cks1b	UTSW	3	89,323,608 (GRCm39)	missense	probably damaging	1.00
R7719:Cks1b	UTSW	3	89,323,635 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGACTCTTCACAGCATGCAG -3'
(R):5'- GCTCTCAGTATGTAGGTCAGTG -3'

Sequencing Primer
(F):5'- AACTGTCTTTGCTTATCTGGAAC -3'
(R):5'- CTCAGTATGTAGGTCAGTGTCTGGC -3'

Posted On

2019-06-07