Mutagenetix > Incidental Mutations

Incidental Mutation 'R5252:Cdk12'

399131

Institutional Source

Beutler Lab

Gene Symbol

Cdk12

Ensembl Gene

ENSMUSG00000003119

Gene Name

cyclin-dependent kinase 12

Synonyms

Crkrs, 1810022J16Rik, D11Ertd752e, Crk7

MMRRC Submission

042823-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5252 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98203059-98278504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98243509 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 1078 (N1078Y)

Ref Sequence

ENSEMBL: ENSMUSP00000103163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003203] [ENSMUST00000107538] [ENSMUST00000107539]

Predicted Effect

unknown
Transcript: ENSMUST00000003203
AA Change: N1078Y

SMART Domains

Protein: ENSMUSP00000003203
Gene: ENSMUSG00000003119
AA Change: N1078Y

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC
low complexity region	40	51	N/A	INTRINSIC
low complexity region	74	92	N/A	INTRINSIC
low complexity region	103	123	N/A	INTRINSIC
low complexity region	124	135	N/A	INTRINSIC
low complexity region	166	177	N/A	INTRINSIC
low complexity region	214	227	N/A	INTRINSIC
low complexity region	286	384	N/A	INTRINSIC
low complexity region	511	568	N/A	INTRINSIC
low complexity region	623	633	N/A	INTRINSIC
low complexity region	666	684	N/A	INTRINSIC
S_TKc	723	1016	1.49e-95	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000107538
AA Change: N1078Y

SMART Domains

Protein: ENSMUSP00000103162
Gene: ENSMUSG00000003119
AA Change: N1078Y

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC
low complexity region	40	51	N/A	INTRINSIC
low complexity region	74	92	N/A	INTRINSIC
low complexity region	103	123	N/A	INTRINSIC
low complexity region	124	135	N/A	INTRINSIC
low complexity region	166	177	N/A	INTRINSIC
low complexity region	214	227	N/A	INTRINSIC
low complexity region	286	384	N/A	INTRINSIC
low complexity region	511	568	N/A	INTRINSIC
low complexity region	623	633	N/A	INTRINSIC
low complexity region	666	684	N/A	INTRINSIC
S_TKc	723	1016	1.49e-95	SMART
low complexity region	1252	1276	N/A	INTRINSIC
low complexity region	1467	1483	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000107539
AA Change: N1078Y

SMART Domains

Protein: ENSMUSP00000103163
Gene: ENSMUSG00000003119
AA Change: N1078Y

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC
low complexity region	40	51	N/A	INTRINSIC
low complexity region	74	92	N/A	INTRINSIC
low complexity region	103	123	N/A	INTRINSIC
low complexity region	124	135	N/A	INTRINSIC
low complexity region	166	177	N/A	INTRINSIC
low complexity region	214	227	N/A	INTRINSIC
low complexity region	286	384	N/A	INTRINSIC
low complexity region	511	568	N/A	INTRINSIC
low complexity region	623	633	N/A	INTRINSIC
low complexity region	666	684	N/A	INTRINSIC
S_TKc	723	1016	1.49e-95	SMART
low complexity region	1253	1267	N/A	INTRINSIC
low complexity region	1458	1474	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147441

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184250

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality between implantation and E6.5 with decreased proliferation and increased apoptosis in the inner cell mass. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	A	4: 42,971,706	F346L	probably benign	Het
Alox12b	G	T	11: 69,165,936	R386L	probably damaging	Het
Ano8	A	T	8: 71,482,617	Y346N	probably damaging	Het
Cabp4	T	C	19: 4,136,068		probably benign	Het
Canx	A	T	11: 50,308,794	I148N	probably damaging	Het
Ccdc141	A	G	2: 77,132,249	V117A	probably benign	Het
Cdk7	T	A	13: 100,730,460	K42*	probably null	Het
Col6a5	T	C	9: 105,940,290	D274G	unknown	Het
Cux1	T	C	5: 136,308,297	E696G	probably damaging	Het
Cxxc1	C	T	18: 74,219,951	A444V	probably benign	Het
Dll1	T	C	17: 15,368,689	K575E	probably damaging	Het
Dnah11	A	G	12: 118,125,941	F1130S	probably damaging	Het
Dnah2	A	G	11: 69,529,469	F140L	probably damaging	Het
Dysf	T	C	6: 84,186,468	V1625A	probably damaging	Het
Evi5	T	C	5: 107,795,752	T592A	probably benign	Het
Fam46c	A	G	3: 100,472,708	L244P	probably damaging	Het
Fas	T	C	19: 34,316,643	S133P	probably damaging	Het
Gpr139	A	G	7: 119,145,204	S53P	probably benign	Het
H2-Q4	T	C	17: 35,380,435	F165L	probably benign	Het
Ighv9-2	A	G	12: 114,109,218	V45A	probably benign	Het
Inpp1	T	G	1: 52,794,547	D130A	probably benign	Het
Lin54	C	T	5: 100,480,204	V47I	probably benign	Het
Nav3	TGAAGAAGAAGAAGA	TGAAGAAGAAGA	10: 109,714,291		probably benign	Het
Nexn	T	C	3: 152,237,953	T438A	probably benign	Het
Olfr1217	A	T	2: 89,023,254	F250I	probably damaging	Het
Olfr967	T	G	9: 39,750,488	I34S	probably damaging	Het
Pilrb1	T	A	5: 137,855,053	M163L	probably benign	Het
Pkhd1	A	T	1: 20,350,411		probably null	Het
Ppard	G	A	17: 28,298,848	V297I	probably benign	Het
Rabgap1	T	C	2: 37,475,357	V214A	probably benign	Het
Serpinc1	T	C	1: 160,989,621	F95S	probably damaging	Het
Slc5a8	T	C	10: 88,906,347	Y302H	probably damaging	Het
Slco4a1	G	A	2: 180,464,459	A145T	possibly damaging	Het
Sptlc2	A	T	12: 87,336,055	M425K	possibly damaging	Het
Trp53bp1	A	G	2: 121,243,983	S429P	probably benign	Het
Unc13a	T	A	8: 71,652,564	T723S	probably damaging	Het
Ush2a	A	T	1: 188,821,717	I3468F	possibly damaging	Het
Utp20	A	T	10: 88,750,670	D2547E	probably benign	Het
Wnk4	A	G	11: 101,268,748	D593G	possibly damaging	Het
Zfyve26	A	G	12: 79,268,982	L1240P	probably damaging	Het

Other mutations in Cdk12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Cdk12	APN	11	98245388	missense	unknown
IGL00718:Cdk12	APN	11	98249676	intron	probably benign
IGL00850:Cdk12	APN	11	98222665	missense	unknown
IGL01299:Cdk12	APN	11	98210446	missense	unknown
IGL01443:Cdk12	APN	11	98245469	missense	unknown
IGL01597:Cdk12	APN	11	98250264	unclassified	probably benign
capsized	UTSW	11	98241785	missense	unknown
Listing	UTSW	11	98224467	nonsense	probably null
R0124:Cdk12	UTSW	11	98211247	splice site	probably benign
R0157:Cdk12	UTSW	11	98249776	unclassified	probably benign
R0190:Cdk12	UTSW	11	98241831	critical splice donor site	probably null
R0230:Cdk12	UTSW	11	98203991	missense	probably damaging	1.00
R0467:Cdk12	UTSW	11	98203579	missense	probably damaging	0.99
R0577:Cdk12	UTSW	11	98203506	missense	probably damaging	0.99
R0671:Cdk12	UTSW	11	98230109	splice site	probably benign
R0834:Cdk12	UTSW	11	98204385	missense	probably benign	0.23
R1129:Cdk12	UTSW	11	98245375	missense	unknown
R1337:Cdk12	UTSW	11	98245671	critical splice donor site	probably null
R1344:Cdk12	UTSW	11	98241785	missense	unknown
R1418:Cdk12	UTSW	11	98241785	missense	unknown
R1729:Cdk12	UTSW	11	98249970	unclassified	probably benign
R1756:Cdk12	UTSW	11	98241761	nonsense	probably null
R1784:Cdk12	UTSW	11	98249970	unclassified	probably benign
R1807:Cdk12	UTSW	11	98210377	missense	unknown
R1956:Cdk12	UTSW	11	98219216	missense	probably benign	0.23
R1966:Cdk12	UTSW	11	98204090	nonsense	probably null
R2202:Cdk12	UTSW	11	98210638	missense	unknown
R2422:Cdk12	UTSW	11	98219074	missense	probably benign	0.23
R2570:Cdk12	UTSW	11	98203792	missense	possibly damaging	0.94
R4574:Cdk12	UTSW	11	98220988	intron	probably benign
R4614:Cdk12	UTSW	11	98249777	unclassified	probably benign
R4882:Cdk12	UTSW	11	98210446	missense	unknown
R4921:Cdk12	UTSW	11	98222687	missense	unknown
R5151:Cdk12	UTSW	11	98249923	unclassified	probably benign
R5348:Cdk12	UTSW	11	98204292	missense	probably benign	0.23
R5620:Cdk12	UTSW	11	98210983	missense	unknown
R5779:Cdk12	UTSW	11	98219074	missense	probably benign	0.23
R6085:Cdk12	UTSW	11	98243429	missense	unknown
R6293:Cdk12	UTSW	11	98224553	missense	unknown
R6371:Cdk12	UTSW	11	98245288	missense	unknown
R6438:Cdk12	UTSW	11	98224467	nonsense	probably null
R6765:Cdk12	UTSW	11	98224529	missense	unknown
R6958:Cdk12	UTSW	11	98241699	missense	unknown
R7205:Cdk12	UTSW	11	98224625	missense	unknown
R7307:Cdk12	UTSW	11	98249800	nonsense	probably null
R7361:Cdk12	UTSW	11	98210468	nonsense	probably null
R7365:Cdk12	UTSW	11	98221084	missense	unknown
R7447:Cdk12	UTSW	11	98245280	missense	unknown
R7514:Cdk12	UTSW	11	98222658	missense	unknown
R7831:Cdk12	UTSW	11	98249827	missense	unknown
R7877:Cdk12	UTSW	11	98240835	missense	unknown
R7914:Cdk12	UTSW	11	98249827	missense	unknown
R7960:Cdk12	UTSW	11	98240835	missense	unknown
Z1176:Cdk12	UTSW	11	98203941	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATAGGAGTTGGTTCTAGTATCAGTAAG -3'
(R):5'- TTCTAATGTTCCAGTGGATAAAACC -3'

Sequencing Primer
(F):5'- TTGAACTCCTGACCTTCGGAAGAG -3'
(R):5'- CCACAGTGATATGGACATATATGC -3'

Posted On

2016-07-06