Mutagenetix > Incidental Mutation

Incidental Mutation 'R0124:Cdk12'

21232

Institutional Source

Beutler Lab

Gene Symbol

Cdk12

Ensembl Gene

ENSMUSG00000003119

Gene Name

cyclin-dependent kinase 12

Synonyms

Crkrs, 1810022J16Rik, D11Ertd752e, Crk7

MMRRC Submission

038409-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0124 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

98203059-98278504 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 98211247 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103163 (fasta)

Gene Model

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

AlphaFold

Q14AX6

Predicted Effect

probably benign
Transcript: ENSMUST00000003203

SMART Domains

Protein: ENSMUSP00000003203
Gene: ENSMUSG00000003119

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

probably benign
Transcript: ENSMUST00000107538

SMART Domains

Protein: ENSMUSP00000103162
Gene: ENSMUSG00000003119

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

probably benign
Transcript: ENSMUST00000107539

SMART Domains

Protein: ENSMUSP00000103163
Gene: ENSMUSG00000003119

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

Coding Region Coverage

1x: 99.3%
3x: 98.3%
10x: 95.7%
20x: 89.8%

Validation Efficiency

100% (67/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,161,674	T194A	probably benign	Het
Afap1	C	T	5: 35,945,209	P82S	probably damaging	Het
Ankrd28	A	G	14: 31,727,741	Y481H	probably damaging	Het
Arid1b	C	T	17: 5,339,330	T1717I	probably damaging	Het
Atad2b	A	G	12: 4,952,676	K348R	probably benign	Het
B020004J07Rik	A	G	4: 101,835,373	*477Q	probably null	Het
Bcl3	C	T	7: 19,809,651	V5M	probably damaging	Het
C2cd3	A	G	7: 100,469,518	E2321G	probably benign	Het
Casq1	C	T	1: 172,210,425	V380M	probably damaging	Het
Cd209e	T	A	8: 3,851,274	T127S	probably benign	Het
Cdh23	G	T	10: 60,308,056	Y2921*	probably null	Het
Cdh6	A	G	15: 13,034,324	L750P	probably damaging	Het
Ces5a	T	C	8: 93,528,555	E170G	probably damaging	Het
Clec4f	A	G	6: 83,652,353		probably null	Het
Col19a1	T	C	1: 24,526,458	N264S	unknown	Het
Col2a1	T	A	15: 97,998,862	I43F	unknown	Het
Col4a2	A	G	8: 11,408,871		probably benign	Het
Csmd3	T	A	15: 47,590,716	D3578V	probably damaging	Het
Cyp2c37	T	C	19: 39,994,102	L128P	probably damaging	Het
Dysf	A	G	6: 84,065,102		probably benign	Het
Eml1	T	C	12: 108,506,608	V225A	probably benign	Het
Eml1	A	G	12: 108,509,178	Y256C	probably damaging	Het
Epb41l5	T	A	1: 119,633,640	K64*	probably null	Het
Fat2	A	G	11: 55,283,678	F2070L	probably damaging	Het
Fbxw18	G	T	9: 109,691,515	H259N	probably benign	Het
Gm10764	A	T	10: 87,290,748	T6S	unknown	Het
Gm14412	A	G	2: 177,315,912		probably benign	Het
Heatr5b	A	T	17: 78,826,217		probably benign	Het
Hid1	T	C	11: 115,356,823	T250A	probably damaging	Het
Hnf4g	A	G	3: 3,643,082		probably benign	Het
Ifnar1	C	T	16: 91,499,537	Q309*	probably null	Het
Lrriq1	C	T	10: 103,170,420		probably null	Het
Map3k13	A	G	16: 21,903,756	T223A	possibly damaging	Het
Matn2	C	T	15: 34,426,151		probably benign	Het
Myo6	A	G	9: 80,307,774	E1253G	probably damaging	Het
Nomo1	G	T	7: 46,083,228		probably benign	Het
Olfr1221	A	T	2: 89,111,744	I256K	possibly damaging	Het
Olfr160	A	G	9: 37,711,463	V272A	possibly damaging	Het
Olfr356	A	T	2: 36,937,256	I46F	possibly damaging	Het
Papolg	C	T	11: 23,867,535	A582T	probably benign	Het
Plekhm3	C	T	1: 64,921,751	E449K	probably damaging	Het
Pole	T	G	5: 110,303,992	M900R	probably damaging	Het
Ppp1cb	T	A	5: 32,483,478		probably benign	Het
Pros1	A	G	16: 62,913,946	T372A	possibly damaging	Het
Scara3	A	T	14: 65,931,221	S316T	probably benign	Het
St5	A	G	7: 109,542,511	S132P	possibly damaging	Het
Stau2	C	T	1: 16,463,128	A61T	probably damaging	Het
Stx3	T	C	19: 11,791,799	E54G	possibly damaging	Het
Sun1	T	C	5: 139,246,679		probably benign	Het
Swt1	A	T	1: 151,391,529	C634S	probably damaging	Het
Syt6	A	G	3: 103,587,526	Y269C	probably damaging	Het
Tfap2a	G	A	13: 40,717,411		probably benign	Het
Tmx4	A	T	2: 134,639,720		probably null	Het
Ttc39d	T	C	17: 80,216,946	C345R	probably damaging	Het
Vmn1r27	T	C	6: 58,215,248	Y257C	probably damaging	Het
Vmn2r27	T	A	6: 124,231,619	T56S	probably benign	Het
Vps13b	T	C	15: 35,576,528		probably null	Het
Wdr17	A	G	8: 54,635,491	S1175P	probably damaging	Het
Wsb2	T	C	5: 117,363,758	F63L	probably benign	Het
Zfp142	A	G	1: 74,568,623	Y1561H	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
Torpedoed	UTSW	11	98221102	missense	unknown
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
R5252:Cdk12	UTSW	11	98243509	missense	unknown
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
R7975:Cdk12	UTSW	11	98221102	missense	unknown
R8507:Cdk12	UTSW	11	98250285	missense	unknown
R8558:Cdk12	UTSW	11	98211089	missense	unknown
R8693:Cdk12	UTSW	11	98250307	missense	unknown
R9250:Cdk12	UTSW	11	98210572	missense	probably benign	0.23
R9517:Cdk12	UTSW	11	98219084	missense	unknown
R9562:Cdk12	UTSW	11	98249802	missense	unknown
R9565:Cdk12	UTSW	11	98249802	missense	unknown
R9792:Cdk12	UTSW	11	98211225	missense	unknown
R9793:Cdk12	UTSW	11	98211225	missense	unknown
R9795:Cdk12	UTSW	11	98211225	missense	unknown
Z1176:Cdk12	UTSW	11	98203941	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTGTAGCACCGAAAGAGGTGATTG -3'
(R):5'- CAGTGAGTGTAACAAGACCCCATCC -3'

Sequencing Primer
(F):5'- AACCACCATTTAGTCAAGTTCCTG -3'
(R):5'- tgccaccaagcctaatgac -3'

Posted On

2013-04-11