Mutagenetix > Incidental Mutation

Incidental Mutation 'R8878:Cdkal1'

676720

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 #

R8878 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29191746-29855674 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 29474624 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 380 (V380F)

Ref Sequence

ENSEMBL: ENSMUSP00000006353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006353] [ENSMUST00000110323] [ENSMUST00000140278]

AlphaFold

Q91WE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000006353
AA Change: V380F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000006353
Gene: ENSMUSG00000006191
AA Change: V380F

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: ENSMUST00000110323

Predicted Effect

probably damaging
Transcript: ENSMUST00000140278
AA Change: V380F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122249
Gene: ENSMUSG00000006191
AA Change: V380F

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

SMART Domains

Protein: ENSMUSP00000121792
Gene: ENSMUSG00000006191
AA Change: V43F

Domain	Start	End	E-Value	Type
Blast:Elp3	2	89	1e-55	BLAST
PDB:2QGQ\|H	4	83	2e-8	PDB

Meta Mutation Damage Score

0.4046

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (73/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	C	A	2: 155,556,404	H348Q	probably benign	Het
Ago1	T	A	4: 126,463,723	Y53F	probably benign	Het
Arrdc5	A	G	17: 56,294,342	L261P	probably benign	Het
Asb2	C	A	12: 103,323,879	W551L	possibly damaging	Het
Atl2	T	C	17: 79,852,803	I452V	probably benign	Het
Atxn7l3	T	C	11: 102,292,719	S203G	probably benign	Het
Bche	A	G	3: 73,701,173	F307L	probably benign	Het
C6	T	C	15: 4,796,972	V679A	probably benign	Het
Cd163	A	T	6: 124,320,510	N872Y	probably damaging	Het
Ceacam11	A	T	7: 17,975,611	I245L	probably benign	Het
Ceacam16	G	T	7: 19,858,731	T84K	possibly damaging	Het
Ceacam2	T	A	7: 25,527,926	Q172L	probably benign	Het
Chga	T	G	12: 102,561,461	S125A	possibly damaging	Het
Col9a1	T	C	1: 24,196,967		probably null	Het
Crybg3	C	A	16: 59,560,184	A236S	probably benign	Het
Csmd1	A	G	8: 15,910,528	Y3296H	probably damaging	Het
Cyp2j8	C	A	4: 96,470,570	V371L	possibly damaging	Het
Des	C	A	1: 75,360,493	L26M	unknown	Het
Edc3	A	G	9: 57,716,201	S140G	possibly damaging	Het
Fam105a	T	A	15: 27,664,798	H24L	probably benign	Het
Fam129b	A	T	2: 32,921,093	M372L	probably benign	Het
Fam161a	C	T	11: 23,020,092	T90I	probably benign	Het
Fancm	T	C	12: 65,126,748	Y1945H	probably damaging	Het
Fbn2	C	T	18: 58,124,246	V350I	probably benign	Het
Git2	A	G	5: 114,761,588	C235R	possibly damaging	Het
Gk2	T	C	5: 97,456,482	K166E	probably benign	Het
Gm12258	G	A	11: 58,859,286	R429H	unknown	Het
Gm7247	T	G	14: 51,428,753		probably benign	Het
Gmppa	A	G	1: 75,438,288	Y59C	probably damaging	Het
Has1	G	T	17: 17,850,059	A200E	possibly damaging	Het
Hbs1l	T	C	10: 21,358,812	I588T	possibly damaging	Het
Helz2	A	G	2: 181,232,767	V1978A	possibly damaging	Het
Hoxb9	T	C	11: 96,274,731	Y209H	probably damaging	Het
Hps5	T	C	7: 46,771,921	D706G	probably benign	Het
Hydin	T	C	8: 110,309,088	V137A	probably benign	Het
Ifngr2	T	C	16: 91,562,959	I318T	probably benign	Het
Iqgap3	C	T	3: 88,113,225	T1290I	probably damaging	Het
Jrk	A	T	15: 74,707,139	V99E	probably benign	Het
Kalrn	G	A	16: 34,198,460	P1311S	probably benign	Het
Kalrn	G	A	16: 34,205,326	T931M	probably damaging	Het
Kirrel3	A	G	9: 34,939,265		probably benign	Het
Klk9	T	C	7: 43,794,358	F99L	possibly damaging	Het
Lamb3	T	C	1: 193,330,816	C450R	probably damaging	Het
Lyst	T	A	13: 13,641,076	S1182T	probably benign	Het
Map1a	T	C	2: 121,307,644	V2933A	probably damaging	Het
Map2k5	A	T	9: 63,343,385		probably null	Het
Mcm6	A	G	1: 128,355,511		probably null	Het
Mmp17	G	A	5: 129,606,314	V505M	probably damaging	Het
Mpped2	A	G	2: 106,744,720	D50G	probably damaging	Het
Mtf1	T	A	4: 124,821,230	L216*	probably null	Het
Obscn	T	C	11: 58,999,812	E7298G	unknown	Het
Olfr39	A	G	9: 20,286,062	D129G	probably damaging	Het
Olfr598	A	T	7: 103,329,005	H173L	possibly damaging	Het
Olfr679	T	C	7: 105,086,556	L280P	probably damaging	Het
Olfr775	T	C	10: 129,251,014	L160P	probably benign	Het
Pax2	G	A	19: 44,788,776		probably null	Het
Pcnt	T	A	10: 76,408,841	E1135V	probably damaging	Het
Pgap3	A	T	11: 98,391,098	V129D	probably benign	Het
Polq	A	G	16: 37,040,507	N497S	probably benign	Het
Ppfia4	T	C	1: 134,299,384	T1138A		Het
Prickle4	A	G	17: 47,690,662	L32P		Het
Prl2c2	C	T	13: 12,997,311	G158R	probably damaging	Het
Psd3	A	G	8: 67,758,098	I752T	probably benign	Het
Sag	A	T	1: 87,828,436	Y255F	probably benign	Het
Scn7a	A	T	2: 66,675,855	D1563E	probably damaging	Het
Secisbp2	A	G	13: 51,683,368	N855S	probably benign	Het
Setd2	T	C	9: 110,592,399	V2011A	probably benign	Het
Slc30a6	T	C	17: 74,423,117	V334A	probably damaging	Het
Spen	A	G	4: 141,477,209	V1369A	unknown	Het
Stac2	T	C	11: 98,041,547	T207A	probably benign	Het
Syne2	T	C	12: 75,905,293	V445A	probably benign	Het
Tas2r131	C	A	6: 132,957,504	W114L	probably damaging	Het
Tgfbrap1	G	A	1: 43,049,799	R815*	probably null	Het
Trpv2	A	T	11: 62,590,286	I404L	probably benign	Het
Zfp236	G	A	18: 82,598,997	T1791M	probably damaging	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
R8903:Cdkal1	UTSW	13	29625935	makesense	probably null
R9535:Cdkal1	UTSW	13	29850024	missense	probably benign
R9763:Cdkal1	UTSW	13	29625709	nonsense	probably null
Z1088:Cdkal1	UTSW	13	29777236	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGAGAGGCAACACAGGTTTGTC -3'
(R):5'- TGACCAGGGACCACTATTCATTG -3'

Sequencing Primer
(F):5'- GCAACACAGGTTTGTCTATGTAGC -3'
(R):5'- CAGGGACCACTATTCATTGTATTTC -3'

Posted On

2021-07-15