Mutagenetix > Incidental Mutation

Incidental Mutation 'R9763:Cdkal1'

735828

Institutional Source

Beutler Lab

Gene Symbol

Cdkal1

Ensembl Gene

ENSMUSG00000006191

Gene Name

CDK5 regulatory subunit associated protein 1-like 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9763 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29191746-29855674 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 29625709 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 217 (C217*)

Ref Sequence

ENSEMBL: ENSMUSP00000006353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006353] [ENSMUST00000137225] [ENSMUST00000140278]

AlphaFold

Q91WE6

Predicted Effect

probably null
Transcript: ENSMUST00000006353
AA Change: C217*

SMART Domains

Protein: ENSMUSP00000006353
Gene: ENSMUSG00000006191
AA Change: C217*

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
Pfam:UPF0004	64	152	5.7e-24	PFAM
Elp3	202	421	1.88e-40	SMART
Pfam:TRAM	430	491	7e-9	PFAM
low complexity region	554	568	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137225

SMART Domains

Protein: ENSMUSP00000117404
Gene: ENSMUSG00000006191

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
Pfam:UPF0004	64	152	9.9e-25	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000140278
AA Change: C217*

SMART Domains

Protein: ENSMUSP00000122249
Gene: ENSMUSG00000006191
AA Change: C217*

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
Pfam:UPF0004	64	152	8.7e-24	PFAM
Elp3	202	421	1.88e-40	SMART
Pfam:TRAM	430	491	9.6e-10	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a targeted allele exhibit impaired tRNALys modification. Mice homozygous for a gene trap allele exhibit altered glucose homeostasis and lipid accumulation at early stages when fed a high fat diet. [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
Abca12	A	T	1: 71,263,558	D2167E	possibly damaging	Het
Acadsb	T	A	7: 131,443,598	Y420N	probably benign	Het
Adcy1	T	A	11: 7,064,126	L176Q	probably damaging	Het
Amdhd1	T	A	10: 93,531,536	K252M	possibly damaging	Het
Aspa	C	A	11: 73,322,268	E83*	probably null	Het
Atat1	A	G	17: 35,910,007	L10P	probably damaging	Het
Ccdc141	T	A	2: 77,039,575	N862I	probably damaging	Het
Cttnbp2	C	T	6: 18,435,241	S206N	probably benign	Het
Dner	A	T	1: 84,383,935	I651N	possibly damaging	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Ercc6l2	T	C	13: 63,834,624	V91A	probably damaging	Het
Fam198a	A	G	9: 121,976,355	D404G	probably damaging	Het
Gm11639	G	A	11: 104,999,659	G4189E	possibly damaging	Het
Gm13941	A	G	2: 111,101,173	L38S	unknown	Het
Golph3l	G	A	3: 95,609,774	E198K	possibly damaging	Het
Hecw2	A	C	1: 53,923,915	D812E	probably damaging	Het
Ikzf2	T	A	1: 69,548,676	E212V	possibly damaging	Het
Il6st	C	T	13: 112,490,517	S281F	probably damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,845,176		probably benign	Het
Krt71	T	G	15: 101,738,322	K317T	probably damaging	Het
Lgi4	T	C	7: 31,060,595	F72S	probably damaging	Het
Map3k1	C	T	13: 111,775,965	R174H	probably damaging	Het
Marveld3	T	A	8: 109,961,743	H122L	probably benign	Het
Mrgprb2	A	G	7: 48,552,426	S184P	probably benign	Het
Mylk	G	T	16: 34,879,112	G282*	probably null	Het
Myo16	T	A	8: 10,400,528	M510K	unknown	Het
Naip5	C	G	13: 100,230,761	A276P	probably damaging	Het
Olfr1016	T	G	2: 85,799,716	N185H	possibly damaging	Het
Olfr1045	A	T	2: 86,197,837	M305K	probably benign	Het
Olfr1507	T	G	14: 52,490,850	Y38S	probably damaging	Het
Olfr411	T	C	11: 74,347,215	Y3C	probably damaging	Het
Olfr518	T	A	7: 108,881,667		probably benign	Het
Olfr519	T	G	7: 108,894,003	I140L	probably benign	Het
Pdzrn4	T	C	15: 92,770,495	Y843H	probably damaging	Het
Prkca	A	G	11: 108,013,041	V242A	possibly damaging	Het
Rbbp8	A	T	18: 11,732,204	M717L	probably benign	Het
Rnf150	T	C	8: 83,006,339	S272P	probably benign	Het
Rtraf	A	G	14: 19,816,246	V134A	probably damaging	Het
Rubcnl	T	A	14: 75,049,668	L592*	probably null	Het
Slc23a1	A	G	18: 35,622,311	S484P	probably damaging	Het
Slmap	A	G	14: 26,482,963	Y68H	probably damaging	Het
Speer4b	C	A	5: 27,500,208	V56L	probably damaging	Het
Sycp2l	T	A	13: 41,152,756	S84T		Het
Syne1	T	C	10: 5,057,858	D122G	probably benign	Het
Timd2	G	T	11: 46,682,713	P155T	probably benign	Het
Topbp1	G	A	9: 103,346,724	R1401Q	probably benign	Het
Trim36	C	A	18: 46,176,058	D312Y	probably benign	Het
Vps13c	A	G	9: 67,911,578	T1094A	probably benign	Het
Vwa8	T	A	14: 78,949,548	Y465N	probably damaging	Het
Zfpm1	T	C	8: 122,335,792	L530P	probably damaging	Het
Zmynd10	A	T	9: 107,548,766	T100S	probably benign	Het

Other mutations in Cdkal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02090:Cdkal1	APN	13	29517510	missense	probably benign	0.01
IGL03111:Cdkal1	APN	13	29354701	missense	possibly damaging	0.52
R0450:Cdkal1	UTSW	13	29691596	splice site	probably null
R0510:Cdkal1	UTSW	13	29691596	splice site	probably null
R0513:Cdkal1	UTSW	13	29625965	intron	probably benign
R0631:Cdkal1	UTSW	13	29354684	nonsense	probably null
R1309:Cdkal1	UTSW	13	29357583	missense	possibly damaging	0.80
R1515:Cdkal1	UTSW	13	29326150	missense	probably damaging	0.98
R1774:Cdkal1	UTSW	13	29850048	missense	probably damaging	1.00
R1803:Cdkal1	UTSW	13	29517471	missense	probably damaging	1.00
R1815:Cdkal1	UTSW	13	29717791	missense	possibly damaging	0.52
R2134:Cdkal1	UTSW	13	29354677	missense	possibly damaging	0.93
R2219:Cdkal1	UTSW	13	29354758	missense	probably benign	0.01
R2220:Cdkal1	UTSW	13	29354758	missense	probably benign	0.01
R2389:Cdkal1	UTSW	13	29552236	missense	probably damaging	1.00
R2497:Cdkal1	UTSW	13	29474541	missense	unknown
R2964:Cdkal1	UTSW	13	29444035	missense	unknown
R3769:Cdkal1	UTSW	13	29552403	splice site	probably null
R5092:Cdkal1	UTSW	13	29846239	missense	probably damaging	1.00
R5164:Cdkal1	UTSW	13	29625719	missense	probably damaging	1.00
R5333:Cdkal1	UTSW	13	29326152	missense	probably benign	0.01
R5514:Cdkal1	UTSW	13	29777287	missense	probably damaging	1.00
R5630:Cdkal1	UTSW	13	29777215	critical splice donor site	probably null
R5838:Cdkal1	UTSW	13	29691686	missense	probably benign
R6729:Cdkal1	UTSW	13	29474695	missense	probably damaging	1.00
R8352:Cdkal1	UTSW	13	29354680	missense	probably benign	0.13
R8444:Cdkal1	UTSW	13	29326104	missense	probably benign	0.23
R8452:Cdkal1	UTSW	13	29354680	missense	probably benign	0.13
R8825:Cdkal1	UTSW	13	29354794	missense	probably benign	0.22
R8878:Cdkal1	UTSW	13	29474624	missense	probably damaging	1.00
R8903:Cdkal1	UTSW	13	29625935	makesense	probably null
R9535:Cdkal1	UTSW	13	29850024	missense	probably benign
Z1088:Cdkal1	UTSW	13	29777236	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGAAACTGGAACCTTTAACGGG -3'
(R):5'- CTCTCCTAGTTAAAAGTCACAAGGC -3'

Sequencing Primer
(F):5'- AAGGATTGCTTGGCTCTC -3'
(R):5'- AGTCACAAGGCTTACTAACTCTG -3'

Posted On

2022-11-14