Mutagenetix > Incidental Mutation

Incidental Mutation 'R2134:Cdkal1'

233661

Institutional Source

Beutler Lab

Gene Symbol

Cdkal1

Ensembl Gene

ENSMUSG00000006191

Gene Name

CDK5 regulatory subunit associated protein 1-like 1

Synonyms

1190005B03Rik, 6620401C13Rik

MMRRC Submission

040137-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2134 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29375729-30039657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29538660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 500 (S500P)

Ref Sequence

ENSEMBL: ENSMUSP00000122249 (fasta)

Gene Model

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

AlphaFold

Q91WE6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006353
AA Change: S500P

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006353
Gene: ENSMUSG00000006191
AA Change: S500P

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

possibly damaging
Transcript: ENSMUST00000140278
AA Change: S500P

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122249
Gene: ENSMUSG00000006191
AA Change: S500P

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 94.9%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,921,743 (GRCm39)	V1437E	probably null	Het
Adam12	G	A	7: 133,614,017 (GRCm39)	R80*	probably null	Het
Adgrb3	G	T	1: 25,133,038 (GRCm39)	F479L	probably damaging	Het
Atf7ip	T	A	6: 136,582,485 (GRCm39)	V1165E	possibly damaging	Het
Atm	C	T	9: 53,379,264 (GRCm39)		probably null	Het
Atp11c	A	G	X: 59,322,143 (GRCm39)	Y593H	probably damaging	Het
Btnl1	A	G	17: 34,604,608 (GRCm39)	D463G	possibly damaging	Het
Cdc34b	T	G	11: 94,633,252 (GRCm39)	W151G	probably damaging	Het
Cenpf	T	C	1: 189,390,839 (GRCm39)	N998D	probably benign	Het
Ces2e	T	A	8: 105,659,171 (GRCm39)		probably null	Het
Chd7	A	G	4: 8,753,147 (GRCm39)	Q548R	probably damaging	Het
Chfr	T	A	5: 110,292,627 (GRCm39)		probably null	Het
Clu	A	G	14: 66,212,290 (GRCm39)		probably null	Het
Cntnap5c	A	G	17: 58,714,717 (GRCm39)	D1235G	probably damaging	Het
Col6a4	T	C	9: 105,943,860 (GRCm39)	S1205G	probably benign	Het
Ddx47	G	T	6: 134,992,313 (GRCm39)	E113*	probably null	Het
Dock4	A	G	12: 40,795,667 (GRCm39)	Y828C	probably benign	Het
Dync1h1	T	A	12: 110,623,065 (GRCm39)	N3553K	possibly damaging	Het
Egflam	C	T	15: 7,263,760 (GRCm39)	C730Y	probably damaging	Het
Fam83b	T	C	9: 76,398,298 (GRCm39)	Y935C	probably damaging	Het
Fam83g	A	G	11: 61,594,510 (GRCm39)	I681M	probably benign	Het
Fastk	T	C	5: 24,650,139 (GRCm39)	R3G	probably damaging	Het
Fxr1	A	T	3: 34,112,196 (GRCm39)	E367D	probably damaging	Het
Gatb	A	G	3: 85,518,677 (GRCm39)	D261G	probably damaging	Het
Gm5617	T	C	9: 48,407,117 (GRCm39)	S84P	possibly damaging	Het
Hecw1	C	T	13: 14,552,285 (GRCm39)	E104K	probably damaging	Het
Il31ra	T	C	13: 112,680,422 (GRCm39)	K265R	possibly damaging	Het
Khsrp	GTCATT	GT	17: 57,331,410 (GRCm39)		probably null	Het
Lrp2	T	A	2: 69,341,411 (GRCm39)	D923V	probably damaging	Het
Ltn1	A	G	16: 87,179,601 (GRCm39)	L1520P	probably damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Map1s	T	G	8: 71,366,526 (GRCm39)	V477G	probably benign	Het
Mical1	T	C	10: 41,358,708 (GRCm39)	L542P	probably damaging	Het
Mtcl3	T	A	10: 29,072,395 (GRCm39)	Y562*	probably null	Het
Mycbp2	T	C	14: 103,446,329 (GRCm39)	Y1800C	probably damaging	Het
Mylk	A	T	16: 34,806,846 (GRCm39)	D1697V	probably benign	Het
Nlrp1a	A	T	11: 71,015,014 (GRCm39)	F79I	probably benign	Het
Or52d3	T	C	7: 104,228,848 (GRCm39)		probably benign	Het
Pde9a	A	G	17: 31,605,284 (GRCm39)	Y6C	probably damaging	Het
Plxnd1	A	T	6: 115,934,509 (GRCm39)	I1808N	probably damaging	Het
Ppp1r13b	T	A	12: 111,800,167 (GRCm39)	T537S	probably benign	Het
Ppp2r2a	A	G	14: 67,253,924 (GRCm39)	F415L	possibly damaging	Het
Rabgap1	C	T	2: 37,453,499 (GRCm39)	R976*	probably null	Het
Rbfox3	T	C	11: 118,387,842 (GRCm39)	H195R	probably damaging	Het
Ripk4	A	T	16: 97,544,933 (GRCm39)	D571E	probably damaging	Het
Sdhaf4	T	A	1: 24,044,634 (GRCm39)	R16S	probably benign	Het
Slc17a1	G	T	13: 24,059,658 (GRCm39)	G130*	probably null	Het
Slc6a1	G	T	6: 114,278,977 (GRCm39)	A23S	probably benign	Het
Slco1a8	T	C	6: 141,926,704 (GRCm39)	I541V	probably damaging	Het
Spock1	T	A	13: 57,583,952 (GRCm39)	Q321L	probably damaging	Het
Syne2	A	G	12: 75,999,560 (GRCm39)	I2318V	probably damaging	Het
Terf2ip	T	C	8: 112,738,271 (GRCm39)	V53A	possibly damaging	Het
Thrb	T	C	14: 18,033,487 (GRCm38)	F403L	probably benign	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Uqcrfs1	T	C	13: 30,724,787 (GRCm39)	K251R	probably benign	Het
Vmn2r111	T	C	17: 22,792,085 (GRCm39)	E57G	possibly damaging	Het
Vmn2r114	T	A	17: 23,510,737 (GRCm39)	Y581F	probably damaging	Het
Vps13d	A	G	4: 144,874,909 (GRCm39)	V1866A	probably benign	Het
Washc5	A	T	15: 59,241,083 (GRCm39)	F84Y	probably damaging	Het
Yars1	T	A	4: 129,090,992 (GRCm39)	Y28*	probably null	Het
Zfp638	A	G	6: 83,905,964 (GRCm39)	Y43C	probably damaging	Het
Zfp750	T	A	11: 121,404,758 (GRCm39)	H39L	probably damaging	Het
Zfr2	C	A	10: 81,078,735 (GRCm39)	S322R	probably damaging	Het
Zzef1	A	G	11: 72,771,450 (GRCm39)	D1644G	probably benign	Het

Other mutations in Cdkal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02090:Cdkal1	APN	13	29,701,493 (GRCm39)	missense	probably benign	0.01
IGL03111:Cdkal1	APN	13	29,538,684 (GRCm39)	missense	possibly damaging	0.52
R0450:Cdkal1	UTSW	13	29,875,579 (GRCm39)	splice site	probably null
R0510:Cdkal1	UTSW	13	29,875,579 (GRCm39)	splice site	probably null
R0513:Cdkal1	UTSW	13	29,809,948 (GRCm39)	intron	probably benign
R0631:Cdkal1	UTSW	13	29,538,667 (GRCm39)	nonsense	probably null
R1309:Cdkal1	UTSW	13	29,541,566 (GRCm39)	missense	possibly damaging	0.80
R1515:Cdkal1	UTSW	13	29,510,133 (GRCm39)	missense	probably damaging	0.98
R1774:Cdkal1	UTSW	13	30,034,031 (GRCm39)	missense	probably damaging	1.00
R1803:Cdkal1	UTSW	13	29,701,454 (GRCm39)	missense	probably damaging	1.00
R1815:Cdkal1	UTSW	13	29,901,774 (GRCm39)	missense	possibly damaging	0.52
R2219:Cdkal1	UTSW	13	29,538,741 (GRCm39)	missense	probably benign	0.01
R2220:Cdkal1	UTSW	13	29,538,741 (GRCm39)	missense	probably benign	0.01
R2389:Cdkal1	UTSW	13	29,736,219 (GRCm39)	missense	probably damaging	1.00
R2497:Cdkal1	UTSW	13	29,658,524 (GRCm39)	missense	unknown
R2964:Cdkal1	UTSW	13	29,628,018 (GRCm39)	missense	unknown
R3769:Cdkal1	UTSW	13	29,736,386 (GRCm39)	splice site	probably null
R5092:Cdkal1	UTSW	13	30,030,222 (GRCm39)	missense	probably damaging	1.00
R5164:Cdkal1	UTSW	13	29,809,702 (GRCm39)	missense	probably damaging	1.00
R5333:Cdkal1	UTSW	13	29,510,135 (GRCm39)	missense	probably benign	0.01
R5514:Cdkal1	UTSW	13	29,961,270 (GRCm39)	missense	probably damaging	1.00
R5630:Cdkal1	UTSW	13	29,961,198 (GRCm39)	critical splice donor site	probably null
R5838:Cdkal1	UTSW	13	29,875,669 (GRCm39)	missense	probably benign
R6729:Cdkal1	UTSW	13	29,658,678 (GRCm39)	missense	probably damaging	1.00
R8352:Cdkal1	UTSW	13	29,538,663 (GRCm39)	missense	probably benign	0.13
R8444:Cdkal1	UTSW	13	29,510,087 (GRCm39)	missense	probably benign	0.23
R8452:Cdkal1	UTSW	13	29,538,663 (GRCm39)	missense	probably benign	0.13
R8825:Cdkal1	UTSW	13	29,538,777 (GRCm39)	missense	probably benign	0.22
R8878:Cdkal1	UTSW	13	29,658,607 (GRCm39)	missense	probably damaging	1.00
R8903:Cdkal1	UTSW	13	29,809,918 (GRCm39)	makesense	probably null
R9535:Cdkal1	UTSW	13	30,034,007 (GRCm39)	missense	probably benign
R9763:Cdkal1	UTSW	13	29,809,692 (GRCm39)	nonsense	probably null
Z1088:Cdkal1	UTSW	13	29,961,219 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AAGAAGTGAAGCCTCGTGC -3'
(R):5'- GACTCCAAATCCTCCTGCAG -3'

Sequencing Primer
(F):5'- GAAGCCTCGTGCCTTCTTACAAAG -3'
(R):5'- TGTGACGATCAAGAAGCCTTCCTG -3'

Posted On

2014-10-01