Mutagenetix > Incidental Mutations

Incidental Mutation 'R1129:Cdk12'

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96497

Institutional Source

Beutler Lab

Gene Symbol

Cdk12

Ensembl Gene

ENSMUSG00000003119

Gene Name

cyclin-dependent kinase 12

Synonyms

Crkrs, 1810022J16Rik, D11Ertd752e, Crk7

MMRRC Submission

039202-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1129 (G1)

Quality Score

156

Status

Not validated

Chromosome

Chromosomal Location

98203059-98278504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98245375 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1152 (S1152P)

Ref Sequence

ENSEMBL: ENSMUSP00000103163 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000003203
AA Change: S1152P

SMART Domains

Protein: ENSMUSP00000003203
Gene: ENSMUSG00000003119
AA Change: S1152P

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: S1152P

SMART Domains

Protein: ENSMUSP00000103162
Gene: ENSMUSG00000003119
AA Change: S1152P

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: S1152P

SMART Domains

Protein: ENSMUSP00000103163
Gene: ENSMUSG00000003119
AA Change: S1152P

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.1%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1	G	C	2: 180,172,919		probably benign	Het
Bub1b	A	T	2: 118,615,006	D269V	probably damaging	Het
Ccdc73	A	G	2: 104,992,190	N828S	possibly damaging	Het
Cnnm3	T	C	1: 36,513,016	L369P	probably damaging	Het
Cxadr	A	G	16: 78,336,433	K360R	probably benign	Het
Dlg2	G	A	7: 92,431,174		probably null	Het
Dst	T	C	1: 34,199,554	V3779A	probably benign	Het
Fbxo16	G	A	14: 65,295,532	R161K	probably benign	Het
Gm9726	T	A	12: 93,928,526		noncoding transcript	Het
Hectd4	A	G	5: 121,310,599	T337A	possibly damaging	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Ints1	A	G	5: 139,758,471	L1510S	probably benign	Het
Kansl2	T	C	15: 98,533,581	Y63C	probably damaging	Het
Lats2	T	C	14: 57,700,333	E233G	possibly damaging	Het
Naca	T	C	10: 128,040,202		probably benign	Het
Pprc1	G	T	19: 46,063,806	A591S	probably benign	Het
Sbsn	C	T	7: 30,753,440	P627S	probably benign	Het
Sema6b	T	C	17: 56,124,347	E772G	probably benign	Het
Tmem33	A	G	5: 67,264,460		probably null	Het
Tmtc4	A	G	14: 122,943,153		probably null	Het
Ubqlnl	A	T	7: 104,149,650	H213Q	probably damaging	Het
Ugt1a10	T	C	1: 88,055,609	M43T	probably benign	Het
Vmn2r68	T	C	7: 85,237,504		probably null	Het
Zcchc14	A	G	8: 121,608,415		probably benign	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
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
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
Z1176:Cdk12	UTSW	11	98203941	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGTGACATCACACAGCAGTTGAATC -3'
(R):5'- TTTAAGAGGATCAACAGCACCTGAGC -3'

Sequencing Primer
(F):5'- TCACACAGCAGTTGAATCAAAGTG -3'
(R):5'- GCTCAATGAGATTCATGACCG -3'

Posted On

2014-01-05