Mutagenetix > Incidental Mutation

Incidental Mutation 'R8352:Cdkal1'

645582

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

067733-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29375729-30039657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29538663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 499 (P499S)

Ref Sequence

ENSEMBL: ENSMUSP00000006353 (fasta)

Gene Model

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

AlphaFold

Q91WE6

Predicted Effect

probably benign
Transcript: ENSMUST00000006353
AA Change: P499S

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000006353
Gene: ENSMUSG00000006191
AA Change: P499S

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: ENSMUST00000140278
AA Change: P499S

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000122249
Gene: ENSMUSG00000006191
AA Change: P499S

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,561,188 (GRCm39)	T158M	probably benign	Het
Actl7b	T	A	4: 56,740,251 (GRCm39)	D369V	probably damaging	Het
Apc	A	G	18: 34,445,804 (GRCm39)	D900G	possibly damaging	Het
Bola1	G	A	3: 96,104,573 (GRCm39)	A7V	probably benign	Het
Bud13	A	G	9: 46,199,377 (GRCm39)	N246S	possibly damaging	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cntnap5c	C	T	17: 58,362,687 (GRCm39)	R347W	probably damaging	Het
Cox8b	T	A	7: 140,478,929 (GRCm39)	E62V	probably null	Het
Cyp2t4	G	A	7: 26,857,162 (GRCm39)	A342T	probably benign	Het
Cyp8b1	A	G	9: 121,744,997 (GRCm39)	Y112H	probably damaging	Het
Dlg5	G	T	14: 24,241,261 (GRCm39)	A212D	probably damaging	Het
Dnah7a	T	C	1: 53,466,986 (GRCm39)	E3626G	probably null	Het
Dpys	T	C	15: 39,656,720 (GRCm39)	E449G	possibly damaging	Het
Fam187a	C	A	11: 102,777,400 (GRCm39)	C401*	probably null	Het
Fsip2	A	T	2: 82,814,937 (GRCm39)	I3557L	probably benign	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
H2bc7	A	G	13: 23,758,219 (GRCm39)	V49A	probably damaging	Het
Ifi213	T	C	1: 173,422,835 (GRCm39)	K10R	possibly damaging	Het
Lrrfip1	T	C	1: 90,926,541 (GRCm39)	S8P	probably benign	Het
Morc2b	T	C	17: 33,356,476 (GRCm39)	D432G	probably damaging	Het
Mrgpra4	T	A	7: 47,631,425 (GRCm39)	I59F	probably damaging	Het
Mttp	A	T	3: 137,818,374 (GRCm39)	D361E	probably damaging	Het
Mysm1	A	G	4: 94,863,510 (GRCm39)	S28P	probably damaging	Het
Nrdc	T	A	4: 108,876,260 (GRCm39)	V284D	probably damaging	Het
Nrip2	A	T	6: 128,384,957 (GRCm39)	D203V	probably damaging	Het
Oog4	A	T	4: 143,164,047 (GRCm39)	Y495N	probably benign	Het
Or52h1	A	T	7: 103,829,103 (GRCm39)	C171S	probably damaging	Het
Or52n4	A	T	7: 104,293,736 (GRCm39)	V281E	possibly damaging	Het
Or7g19	T	A	9: 18,856,459 (GRCm39)	L172M	possibly damaging	Het
Or8c11	A	T	9: 38,289,647 (GRCm39)	M151L	probably benign	Het
Pacrg	T	A	17: 10,795,523 (GRCm39)	R146*	probably null	Het
Pcdh18	A	T	3: 49,699,624 (GRCm39)	M946K	possibly damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pign	A	G	1: 105,575,917 (GRCm39)	I241T	probably benign	Het
Pik3cg	A	G	12: 32,243,639 (GRCm39)	I944T	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp2r5c	T	A	12: 110,510,511 (GRCm39)	F99L	probably benign	Het
Prex1	A	T	2: 166,431,493 (GRCm39)	N756K	probably benign	Het
Prex2	A	T	1: 11,355,363 (GRCm39)	M1555L	probably benign	Het
Prex2	T	G	1: 11,355,364 (GRCm39)	M1555R	probably benign	Het
Prl3c1	T	A	13: 27,386,385 (GRCm39)	D123E	probably benign	Het
Prr22	G	A	17: 57,078,311 (GRCm39)	G155R	probably damaging	Het
Rev3l	A	G	10: 39,698,899 (GRCm39)	D1132G	probably damaging	Het
Rnf180	A	T	13: 105,318,056 (GRCm39)	F452Y	probably damaging	Het
Scn4b	A	T	9: 45,058,039 (GRCm39)	I44F	possibly damaging	Het
Sirpb1b	T	A	3: 15,607,410 (GRCm39)	I291L	probably benign	Het
Slc12a9	C	A	5: 137,313,737 (GRCm39)	V741L	probably benign	Het
Tbc1d8	G	T	1: 39,444,438 (GRCm39)	R174S	probably damaging	Het
Tenm2	A	G	11: 35,914,428 (GRCm39)	F2370L	probably damaging	Het
Tfec	T	A	6: 16,844,202 (GRCm39)	H115L	probably damaging	Het
Tnxb	A	T	17: 34,908,381 (GRCm39)	T1345S	probably damaging	Het
Ttn	T	A	2: 76,568,831 (GRCm39)	N27354I	probably damaging	Het
Unc13c	A	G	9: 73,838,290 (GRCm39)	Y854H	probably damaging	Het
Utrn	A	T	10: 12,689,253 (GRCm39)	W11R	probably benign	Het
Vmn2r26	A	G	6: 124,016,577 (GRCm39)	Q347R	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
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
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'- AAGCCTCGTGCCTTCTTACAAAG -3'
(R):5'- GACTCCAAATCCTCCTGCAG -3'

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

Posted On

2020-09-02