Mutagenetix > Incidental Mutation

Incidental Mutation 'R0577:Cdk12'

56269

Institutional Source

Beutler Lab

Gene Symbol

Cdk12

Ensembl Gene

ENSMUSG00000003119

Gene Name

cyclin dependent kinase 12

Synonyms

Crkrs, Crk7, D11Ertd752e, 1810022J16Rik

MMRRC Submission

038767-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0577 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98093885-98169330 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98094332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 47 (S47P)

Ref Sequence

ENSEMBL: ENSMUSP00000103163 (fasta)

Gene Model

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

AlphaFold

Q14AX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000003203
AA Change: S47P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000003203
Gene: ENSMUSG00000003119
AA Change: S47P

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 damaging
Transcript: ENSMUST00000107538
AA Change: S47P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103162
Gene: ENSMUSG00000003119
AA Change: S47P

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 damaging
Transcript: ENSMUST00000107539
AA Change: S47P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103163
Gene: ENSMUSG00000003119
AA Change: S47P

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

Meta Mutation Damage Score

0.0747

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

97% (30/31)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,769,910 (GRCm39)	H336Q	probably benign	Het
Abcc2	A	T	19: 43,807,840 (GRCm39)	D827V	probably damaging	Het
Asph	G	T	4: 9,604,620 (GRCm39)	A139E	probably benign	Het
Bag3	T	C	7: 128,125,611 (GRCm39)	M10T	probably benign	Het
Bod1l	T	C	5: 41,952,230 (GRCm39)	D2894G	probably damaging	Het
Dchs1	C	T	7: 105,413,462 (GRCm39)	V1118I	possibly damaging	Het
Ddi2	A	T	4: 141,411,818 (GRCm39)	C365S	possibly damaging	Het
Eef1g	A	G	19: 8,950,406 (GRCm39)	D264G	probably benign	Het
Fbxw17	T	C	13: 50,585,619 (GRCm39)	L274P	probably benign	Het
Gpc6	A	G	14: 117,673,420 (GRCm39)	T226A	probably benign	Het
Klf12	T	A	14: 100,260,585 (GRCm39)	Y48F	probably damaging	Het
Klhdc4	C	T	8: 122,548,090 (GRCm39)	A67T	probably damaging	Het
Macir	C	T	1: 97,589,551 (GRCm39)		probably null	Het
Madd	C	T	2: 90,968,740 (GRCm39)	E1596K	possibly damaging	Het
Mov10l1	A	G	15: 88,889,930 (GRCm39)	Y533C	probably damaging	Het
Mtif2	G	T	11: 29,490,862 (GRCm39)		probably null	Het
Mtmr6	G	A	14: 60,534,087 (GRCm39)	V442I	possibly damaging	Het
Or4k15b	C	T	14: 50,272,249 (GRCm39)	G204R	probably damaging	Het
Or5ac23	A	T	16: 59,149,061 (GRCm39)	D270E	probably benign	Het
Or9i16	T	C	19: 13,865,167 (GRCm39)	T136A	probably damaging	Het
Pdcd11	A	G	19: 47,087,271 (GRCm39)	N277S	probably benign	Het
Pias2	A	T	18: 77,184,977 (GRCm39)	L12F	probably damaging	Het
Potefam1	G	T	2: 111,024,694 (GRCm39)	Q57K	probably benign	Het
Rnf213	G	T	11: 119,334,106 (GRCm39)	R3105L	probably damaging	Het
Rps11	A	G	7: 44,772,274 (GRCm39)	V111A	probably benign	Het
Rrs1	C	A	1: 9,616,026 (GRCm39)		probably null	Het
Thsd7a	T	C	6: 12,321,047 (GRCm39)	T1543A	possibly damaging	Het
Vmn2r86	C	A	10: 130,288,444 (GRCm39)	R352S	probably benign	Het
Zfp141	T	C	7: 42,125,938 (GRCm39)	N178S	probably benign	Het
Zfp955a	A	T	17: 33,461,068 (GRCm39)	F355I	probably damaging	Het

Other mutations in Cdk12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Cdk12	APN	11	98,136,214 (GRCm39)	missense	unknown
IGL00718:Cdk12	APN	11	98,140,502 (GRCm39)	intron	probably benign
IGL00850:Cdk12	APN	11	98,113,491 (GRCm39)	missense	unknown
IGL01299:Cdk12	APN	11	98,101,272 (GRCm39)	missense	unknown
IGL01443:Cdk12	APN	11	98,136,295 (GRCm39)	missense	unknown
IGL01597:Cdk12	APN	11	98,141,090 (GRCm39)	unclassified	probably benign
capsized	UTSW	11	98,132,611 (GRCm39)	missense	unknown
Listing	UTSW	11	98,115,293 (GRCm39)	nonsense	probably null
Torpedoed	UTSW	11	98,111,928 (GRCm39)	missense	unknown
R0124:Cdk12	UTSW	11	98,102,073 (GRCm39)	splice site	probably benign
R0157:Cdk12	UTSW	11	98,140,602 (GRCm39)	unclassified	probably benign
R0190:Cdk12	UTSW	11	98,132,657 (GRCm39)	critical splice donor site	probably null
R0230:Cdk12	UTSW	11	98,094,817 (GRCm39)	missense	probably damaging	1.00
R0467:Cdk12	UTSW	11	98,094,405 (GRCm39)	missense	probably damaging	0.99
R0671:Cdk12	UTSW	11	98,120,935 (GRCm39)	splice site	probably benign
R0834:Cdk12	UTSW	11	98,095,211 (GRCm39)	missense	probably benign	0.23
R1129:Cdk12	UTSW	11	98,136,201 (GRCm39)	missense	unknown
R1337:Cdk12	UTSW	11	98,136,497 (GRCm39)	critical splice donor site	probably null
R1344:Cdk12	UTSW	11	98,132,611 (GRCm39)	missense	unknown
R1418:Cdk12	UTSW	11	98,132,611 (GRCm39)	missense	unknown
R1729:Cdk12	UTSW	11	98,140,796 (GRCm39)	unclassified	probably benign
R1756:Cdk12	UTSW	11	98,132,587 (GRCm39)	nonsense	probably null
R1784:Cdk12	UTSW	11	98,140,796 (GRCm39)	unclassified	probably benign
R1807:Cdk12	UTSW	11	98,101,203 (GRCm39)	missense	unknown
R1956:Cdk12	UTSW	11	98,110,042 (GRCm39)	missense	probably benign	0.23
R1966:Cdk12	UTSW	11	98,094,916 (GRCm39)	nonsense	probably null
R2202:Cdk12	UTSW	11	98,101,464 (GRCm39)	missense	unknown
R2422:Cdk12	UTSW	11	98,109,900 (GRCm39)	missense	probably benign	0.23
R2570:Cdk12	UTSW	11	98,094,618 (GRCm39)	missense	possibly damaging	0.94
R4574:Cdk12	UTSW	11	98,111,814 (GRCm39)	intron	probably benign
R4614:Cdk12	UTSW	11	98,140,603 (GRCm39)	unclassified	probably benign
R4882:Cdk12	UTSW	11	98,101,272 (GRCm39)	missense	unknown
R4921:Cdk12	UTSW	11	98,113,513 (GRCm39)	missense	unknown
R5151:Cdk12	UTSW	11	98,140,749 (GRCm39)	unclassified	probably benign
R5252:Cdk12	UTSW	11	98,134,335 (GRCm39)	missense	unknown
R5348:Cdk12	UTSW	11	98,095,118 (GRCm39)	missense	probably benign	0.23
R5620:Cdk12	UTSW	11	98,101,809 (GRCm39)	missense	unknown
R5779:Cdk12	UTSW	11	98,109,900 (GRCm39)	missense	probably benign	0.23
R6085:Cdk12	UTSW	11	98,134,255 (GRCm39)	missense	unknown
R6293:Cdk12	UTSW	11	98,115,379 (GRCm39)	missense	unknown
R6371:Cdk12	UTSW	11	98,136,114 (GRCm39)	missense	unknown
R6438:Cdk12	UTSW	11	98,115,293 (GRCm39)	nonsense	probably null
R6765:Cdk12	UTSW	11	98,115,355 (GRCm39)	missense	unknown
R6958:Cdk12	UTSW	11	98,132,525 (GRCm39)	missense	unknown
R7205:Cdk12	UTSW	11	98,115,451 (GRCm39)	missense	unknown
R7307:Cdk12	UTSW	11	98,140,626 (GRCm39)	nonsense	probably null
R7361:Cdk12	UTSW	11	98,101,294 (GRCm39)	nonsense	probably null
R7365:Cdk12	UTSW	11	98,111,910 (GRCm39)	missense	unknown
R7447:Cdk12	UTSW	11	98,136,106 (GRCm39)	missense	unknown
R7514:Cdk12	UTSW	11	98,113,484 (GRCm39)	missense	unknown
R7831:Cdk12	UTSW	11	98,140,653 (GRCm39)	missense	unknown
R7877:Cdk12	UTSW	11	98,131,661 (GRCm39)	missense	unknown
R7975:Cdk12	UTSW	11	98,111,928 (GRCm39)	missense	unknown
R8507:Cdk12	UTSW	11	98,141,111 (GRCm39)	missense	unknown
R8558:Cdk12	UTSW	11	98,101,915 (GRCm39)	missense	unknown
R8693:Cdk12	UTSW	11	98,141,133 (GRCm39)	missense	unknown
R9250:Cdk12	UTSW	11	98,101,398 (GRCm39)	missense	probably benign	0.23
R9517:Cdk12	UTSW	11	98,109,910 (GRCm39)	missense	unknown
R9562:Cdk12	UTSW	11	98,140,628 (GRCm39)	missense	unknown
R9565:Cdk12	UTSW	11	98,140,628 (GRCm39)	missense	unknown
R9792:Cdk12	UTSW	11	98,102,051 (GRCm39)	missense	unknown
R9793:Cdk12	UTSW	11	98,102,051 (GRCm39)	missense	unknown
R9795:Cdk12	UTSW	11	98,102,051 (GRCm39)	missense	unknown
Z1176:Cdk12	UTSW	11	98,094,767 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCTCATGTAGGAGGGCGCTGA -3'
(R):5'- GGACCGTTTGGAACTGCCCGAT -3'

Sequencing Primer
(F):5'- AGGAGGAGCCTCGCCTG -3'
(R):5'- CGATACCCGGTCCTTCATAG -3'

Posted On

2013-07-11