Mutagenetix > Incidental Mutation

Incidental Mutation 'R0450:Cdkal1'

39630

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

038650-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0450 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29375729-30039657 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

C to A at 29875579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000006353 (fasta)

Gene Model

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

AlphaFold

Q91WE6

Predicted Effect

probably null
Transcript: ENSMUST00000006353

SMART Domains

Protein: ENSMUSP00000006353
Gene: ENSMUSG00000006191

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

noncoding transcript
Transcript: ENSMUST00000131792

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 benign
Transcript: ENSMUST00000140278

SMART Domains

Protein: ENSMUSP00000122249
Gene: ENSMUSG00000006191

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153086

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 94.2%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	G	A	2: 127,722,423 (GRCm39)		probably null	Het
AI606181	A	C	19: 41,582,170 (GRCm39)	K113N	unknown	Het
Ankrd11	T	C	8: 123,618,914 (GRCm39)	D1646G	possibly damaging	Het
Ap2m1	T	A	16: 20,360,990 (GRCm39)	I334N	possibly damaging	Het
Arih2	T	A	9: 108,482,291 (GRCm39)	H490L	possibly damaging	Het
Ccdc168	T	A	1: 44,100,257 (GRCm39)	K280N	possibly damaging	Het
Cdhr1	T	C	14: 36,802,633 (GRCm39)	Y610C	probably damaging	Het
Cep76	A	T	18: 67,767,850 (GRCm39)	N227K	probably benign	Het
Clca4b	A	T	3: 144,619,112 (GRCm39)	Y676N	probably damaging	Het
Cog2	T	C	8: 125,255,797 (GRCm39)		probably null	Het
Col6a4	A	T	9: 105,957,746 (GRCm39)	V26D	probably damaging	Het
Dcaf11	T	C	14: 55,806,537 (GRCm39)	V446A	probably damaging	Het
Dync1h1	C	A	12: 110,606,378 (GRCm39)	Q2483K	probably benign	Het
Enpp3	A	T	10: 24,652,679 (GRCm39)	D759E	probably damaging	Het
Etfbkmt	C	T	6: 149,052,082 (GRCm39)	R96W	probably benign	Het
Fam83a	C	A	15: 57,873,322 (GRCm39)	Q384K	probably benign	Het
Glipr1l2	A	G	10: 111,928,477 (GRCm39)	D124G	probably benign	Het
Gucy2e	T	C	11: 69,126,402 (GRCm39)	D326G	probably benign	Het
Hnrnph3	T	A	10: 62,853,994 (GRCm39)	R41S	probably benign	Het
Hnrnph3	T	A	10: 62,855,279 (GRCm39)	D2V	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Itpr2	T	C	6: 146,319,477 (GRCm39)	T188A	possibly damaging	Het
Krt23	T	A	11: 99,377,608 (GRCm39)	I133L	probably damaging	Het
Krt74	T	C	15: 101,671,751 (GRCm39)		noncoding transcript	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Map1a	A	T	2: 121,136,255 (GRCm39)	H2357L	probably benign	Het
Mbl1	A	G	14: 40,880,706 (GRCm39)	N198S	probably damaging	Het
Mcf2l	A	G	8: 13,047,337 (GRCm39)	D233G	probably damaging	Het
Mdga2	T	C	12: 66,517,700 (GRCm39)	K45E	possibly damaging	Het
Mdn1	A	G	4: 32,738,619 (GRCm39)	N3524S	probably benign	Het
Mospd3	A	G	5: 137,595,294 (GRCm39)	L233P	probably damaging	Het
Msto1	A	G	3: 88,818,848 (GRCm39)	L269P	probably benign	Het
Or4a39	A	T	2: 89,237,135 (GRCm39)	M96K	probably damaging	Het
Or5p5	T	C	7: 107,413,895 (GRCm39)	Y35H	probably damaging	Het
Or5w15	A	G	2: 87,567,825 (GRCm39)	V281A	probably damaging	Het
Or8b12i	T	C	9: 20,082,561 (GRCm39)	Y102C	probably benign	Het
Or8g27	G	A	9: 39,129,024 (GRCm39)	V124I	possibly damaging	Het
Parp2	T	A	14: 51,057,130 (GRCm39)	Y361N	probably damaging	Het
Pcf11	G	A	7: 92,307,039 (GRCm39)	P1043L	probably damaging	Het
Phf24	G	T	4: 42,933,761 (GRCm39)	V48L	possibly damaging	Het
Pkn1	C	A	8: 84,398,953 (GRCm39)	C678F	probably damaging	Het
Plcl2	T	C	17: 50,915,010 (GRCm39)	L673P	probably damaging	Het
Ppp1r3c	A	T	19: 36,711,617 (GRCm39)	F51Y	possibly damaging	Het
Rem2	T	C	14: 54,713,754 (GRCm39)		probably benign	Het
Smpdl3b	A	G	4: 132,472,449 (GRCm39)	V108A	probably damaging	Het
Sncaip	A	G	18: 53,001,781 (GRCm39)	T101A	probably benign	Het
Stk11	T	C	10: 79,961,920 (GRCm39)	V47A	probably damaging	Het
Tmpo	A	C	10: 90,998,958 (GRCm39)	I276M	probably benign	Het
Trim55	G	T	3: 19,725,256 (GRCm39)	V258L	possibly damaging	Het
Ttn	A	G	2: 76,560,756 (GRCm39)	V29215A	probably damaging	Het
Ubr4	T	G	4: 139,157,534 (GRCm39)	S2364A	probably benign	Het
Unc79	T	A	12: 103,045,329 (GRCm39)		probably null	Het
Upb1	T	C	10: 75,250,917 (GRCm39)		probably null	Het
Usp47	T	C	7: 111,655,787 (GRCm39)	S155P	possibly damaging	Het
Zfp628	A	T	7: 4,922,732 (GRCm39)	Q318L	probably benign	Het
Zfp729b	A	T	13: 67,739,253 (GRCm39)	V1004E	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
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
R2134:Cdkal1	UTSW	13	29,538,660 (GRCm39)	missense	possibly damaging	0.93
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'- ACGTGTACTGCCCAAAATGAGAAAAGT -3'
(R):5'- TCTAAGGACACAGAGGCTCTCCCA -3'

Sequencing Primer
(F):5'- TCCTGACTCAAGCATACATGTC -3'
(R):5'- AGAGGCTCTCCCAAATGTGTG -3'

Posted On

2013-05-23