Mutagenetix > Incidental Mutations

Incidental Mutation 'R5779:Cdk12'

501513

Institutional Source

Beutler Lab

Gene Symbol

Cdk12

Ensembl Gene

ENSMUSG00000003119

Gene Name

cyclin-dependent kinase 12

Synonyms

Crkrs, 1810022J16Rik, D11Ertd752e, Crk7

MMRRC Submission

043377-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5779 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98203059-98278504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98219074 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 640 (S640R)

Ref Sequence

ENSEMBL: ENSMUSP00000103163 (fasta)

Gene Model

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

AlphaFold

Q14AX6

Predicted Effect

probably benign
Transcript: ENSMUST00000003203
AA Change: S640R

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000003203
Gene: ENSMUSG00000003119
AA Change: S640R

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
AA Change: S640R

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103162
Gene: ENSMUSG00000003119
AA Change: S640R

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
AA Change: S640R

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103163
Gene: ENSMUSG00000003119
AA Change: S640R

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: ENSMUST00000145113

Meta Mutation Damage Score

0.0720

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

88% (52/59)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,881,061	N190Y	probably benign	Het
2310035C23Rik	T	G	1: 105,687,347	N246K	probably damaging	Het
Abca6	T	C	11: 110,184,670	M1332V	probably benign	Het
Afg3l2	T	C	18: 67,440,443	K132R	probably null	Het
Arap3	T	C	18: 37,984,365	D886G	probably damaging	Het
B3gntl1	G	T	11: 121,651,676		probably null	Het
Ceacam12	C	A	7: 18,069,154	P162T	probably benign	Het
Chrna5	C	A	9: 54,998,104	H67N	probably benign	Het
Copb1	T	A	7: 114,219,572	D837V	probably damaging	Het
D11Wsu47e	A	G	11: 113,687,992	D71G	probably benign	Het
Dcaf5	C	T	12: 80,338,832	R840H	probably benign	Het
Ect2l	T	A	10: 18,163,438	Q324L	probably benign	Het
Eef1e1	T	C	13: 38,646,273	N141S	probably damaging	Het
Eif2ak4	A	C	2: 118,412,963	N208T	possibly damaging	Het
Ext1	A	G	15: 53,344,553	Y271H	probably damaging	Het
Fam173a	A	G	17: 25,790,657	V194A	probably benign	Het
Fbxo5	G	A	10: 5,800,303	R323C	possibly damaging	Het
Fpr-rs3	C	A	17: 20,624,226	A218S	possibly damaging	Het
Gm20499	G	A	5: 114,817,021		probably benign	Het
Gucy1b2	C	A	14: 62,414,301	L400F	possibly damaging	Het
Hgd	T	A	16: 37,593,371	L24H	probably benign	Het
Hmx3	C	A	7: 131,544,328	S255*	probably null	Het
Ifrd1	A	T	12: 40,203,370	F448I	probably damaging	Het
Igfn1	T	A	1: 135,966,840	E1996V	probably benign	Het
Itpr1	G	A	6: 108,352,143	G173R	probably damaging	Het
Kbtbd8	T	C	6: 95,118,534	S26P	probably benign	Het
Kctd17	A	T	15: 78,437,133		probably benign	Het
Matr3	T	C	18: 35,584,522	S258P	possibly damaging	Het
Mpp4	G	A	1: 59,151,666	A90V	probably benign	Het
Mrpl20	G	A	4: 155,806,921	R34Q	probably damaging	Het
Neb	A	T	2: 52,245,301	S3266T	probably damaging	Het
Nipal3	A	G	4: 135,452,339		probably benign	Het
Npas2	A	T	1: 39,287,571	T46S	possibly damaging	Het
Nsd3	G	T	8: 25,682,669	E815*	probably null	Het
Nup98	C	A	7: 102,152,361	V786L	probably benign	Het
Olfr730	A	T	14: 50,186,746	M157K	possibly damaging	Het
Pcdhb3	T	C	18: 37,301,467	V162A	probably benign	Het
Pcgf2	G	A	11: 97,690,291	P58L	probably damaging	Het
Penk	A	G	4: 4,134,318	F110L	probably damaging	Het
Scfd1	A	G	12: 51,431,529	N508S	probably benign	Het
Scn2a	T	C	2: 65,764,483	V1892A	probably benign	Het
Sema6a	G	A	18: 47,248,826	R885C	probably damaging	Het
Sik2	T	C	9: 50,895,845	H755R	probably benign	Het
Slc36a3	A	T	11: 55,135,268	Y241*	probably null	Het
Smg5	T	C	3: 88,351,618		probably benign	Het
Spag9	A	G	11: 94,114,253	T1049A	probably benign	Het
Tas2r103	T	C	6: 133,036,945	M53V	probably benign	Het
Tpr	C	T	1: 150,423,541	A1090V	probably damaging	Het
Traf5	T	A	1: 191,997,672	R473W	probably damaging	Het
Ush2a	T	C	1: 188,443,510		probably null	Het
Vit	A	G	17: 78,546,426	T34A	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
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
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
Z1176:Cdk12	UTSW	11	98203941	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTCAGGTGTTCCATAGAGTTTT -3'
(R):5'- CATCCTGTTAAACTTACTTTGGTCT -3'

Sequencing Primer
(F):5'- ATCCCACTATAGATGGCTGTGAGC -3'
(R):5'- CTCTTTTTATATGGTTGTTGAGGTGG -3'

Posted On

2017-12-01