Mutagenetix > Incidental Mutation

Incidental Mutation 'R0834:Cdk12'

77750

Institutional Source

Beutler Lab

Gene Symbol

Cdk12

Ensembl Gene

ENSMUSG00000003119

Gene Name

cyclin dependent kinase 12

Synonyms

Crkrs, Crk7, D11Ertd752e, 1810022J16Rik

MMRRC Submission

039013-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0834 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98093885-98169330 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98095211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 340 (S340T)

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: S340T

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

SMART Domains

Protein: ENSMUSP00000003203
Gene: ENSMUSG00000003119
AA Change: S340T

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: S340T

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

SMART Domains

Protein: ENSMUSP00000103162
Gene: ENSMUSG00000003119
AA Change: S340T

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: S340T

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

SMART Domains

Protein: ENSMUSP00000103163
Gene: ENSMUSG00000003119
AA Change: S340T

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

0.0837

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

100% (86/86)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	T	6: 86,063,899 (GRCm39)	E66V	probably damaging	Het
Aldh1a3	T	C	7: 66,062,658 (GRCm39)	I156V	probably benign	Het
Ang4	T	A	14: 52,001,725 (GRCm39)	K74N	probably benign	Het
Arcn1	A	T	9: 44,670,172 (GRCm39)		probably benign	Het
Arhgef33	T	A	17: 80,655,026 (GRCm39)		probably benign	Het
Atn1	A	G	6: 124,720,188 (GRCm39)		probably benign	Het
Bmal2	A	G	6: 146,724,185 (GRCm39)	H359R	probably damaging	Het
Bmerb1	T	C	16: 13,911,795 (GRCm39)	L47P	probably damaging	Het
Brip1	T	C	11: 86,083,653 (GRCm39)	T123A	probably benign	Het
Camkv	A	G	9: 107,823,045 (GRCm39)	Y95C	probably damaging	Het
Ckap2l	G	A	2: 129,138,224 (GRCm39)		probably benign	Het
Clmn	A	T	12: 104,738,085 (GRCm39)	L1042Q	probably damaging	Het
Clmn	G	T	12: 104,738,086 (GRCm39)	L1042M	probably damaging	Het
Cluh	T	C	11: 74,554,631 (GRCm39)	V737A	probably benign	Het
Cpne8	A	G	15: 90,424,462 (GRCm39)	V309A	probably benign	Het
Cpxm2	T	A	7: 131,756,342 (GRCm39)		probably benign	Het
Csmd3	A	T	15: 47,747,073 (GRCm39)		probably benign	Het
Ctr9	T	A	7: 110,650,159 (GRCm39)	S818T	probably benign	Het
Cyp26a1	C	T	19: 37,688,405 (GRCm39)	A309V	probably damaging	Het
Dbndd2	C	T	2: 164,332,122 (GRCm39)	T115I	possibly damaging	Het
Dhcr7	A	G	7: 143,394,964 (GRCm39)	N157S	probably benign	Het
Dlx2	C	A	2: 71,375,859 (GRCm39)	V155F	probably damaging	Het
Duox1	A	T	2: 122,176,982 (GRCm39)	I1470F	probably damaging	Het
Esrrb	A	T	12: 86,517,071 (GRCm39)	I68F	probably benign	Het
Fhod3	T	A	18: 25,248,862 (GRCm39)	L1347*	probably null	Het
Fip1l1	T	C	5: 74,755,721 (GRCm39)		probably benign	Het
Frem3	A	G	8: 81,413,637 (GRCm39)	Y1966C	probably damaging	Het
Gatd3a	T	C	10: 77,998,539 (GRCm39)	D229G	probably damaging	Het
Ggt5	C	T	10: 75,440,604 (GRCm39)	R242C	possibly damaging	Het
Gm14496	G	A	2: 181,637,480 (GRCm39)	V185I	probably benign	Het
Gnptab	T	C	10: 88,265,814 (GRCm39)	V409A	probably damaging	Het
Gramd1a	A	G	7: 30,837,589 (GRCm39)	F390S	possibly damaging	Het
Helz2	A	G	2: 180,872,570 (GRCm39)	S2477P	probably damaging	Het
Hsd17b3	T	C	13: 64,236,936 (GRCm39)	K3E	probably benign	Het
Ift172	T	C	5: 31,414,715 (GRCm39)	H1395R	probably benign	Het
Jam2	T	A	16: 84,609,855 (GRCm39)	C180S	probably damaging	Het
Kalrn	A	C	16: 33,870,289 (GRCm39)	S160A	possibly damaging	Het
Kcnk3	T	C	5: 30,779,979 (GRCm39)	I343T	probably damaging	Het
Kif13a	T	C	13: 46,967,712 (GRCm39)	E334G	probably damaging	Het
Klhl41	A	G	2: 69,508,491 (GRCm39)	K482E	possibly damaging	Het
Lig3	A	G	11: 82,689,113 (GRCm39)	E794G	probably damaging	Het
Myh13	T	C	11: 67,240,436 (GRCm39)	M780T	possibly damaging	Het
Ndst2	A	G	14: 20,779,761 (GRCm39)	Y160H	probably damaging	Het
Ndufb10	T	C	17: 24,941,648 (GRCm39)	M90V	probably damaging	Het
Obscn	T	C	11: 59,024,104 (GRCm39)	K522R	probably benign	Het
Olfml2b	T	C	1: 170,475,413 (GRCm39)	S113P	probably benign	Het
Or14a257	T	A	7: 86,138,698 (GRCm39)	E20D	probably benign	Het
Or4a78	A	G	2: 89,497,423 (GRCm39)	I269T	probably benign	Het
Or4d10b	T	A	19: 12,036,979 (GRCm39)	M46L	probably benign	Het
Or51v14	T	C	7: 103,261,444 (GRCm39)	T39A	probably benign	Het
Or6k2	T	A	1: 173,986,930 (GRCm39)	M197K	possibly damaging	Het
Parg	T	C	14: 31,936,511 (GRCm39)		probably benign	Het
Pde7a	C	T	3: 19,284,482 (GRCm39)	C367Y	probably damaging	Het
Pigr	T	A	1: 130,772,281 (GRCm39)	C166*	probably null	Het
Pip4k2c	A	T	10: 127,036,704 (GRCm39)		probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prkd2	A	T	7: 16,599,602 (GRCm39)		probably benign	Het
Ptprt	G	T	2: 161,654,059 (GRCm39)		probably null	Het
Rapgef5	C	T	12: 117,610,741 (GRCm39)		probably benign	Het
Retreg1	T	C	15: 25,971,756 (GRCm39)	L356P	probably benign	Het
Rigi	T	A	4: 40,239,596 (GRCm39)	E34V	possibly damaging	Het
Rnf43	A	G	11: 87,622,077 (GRCm39)	T393A	probably benign	Het
Samd3	T	C	10: 26,147,725 (GRCm39)	S467P	probably benign	Het
Scarf1	C	A	11: 75,405,229 (GRCm39)	C89*	probably null	Het
Sdk1	T	C	5: 141,227,779 (GRCm39)	L59S	probably benign	Het
Sgca	C	T	11: 94,861,512 (GRCm39)	W244*	probably null	Het
Sh3d21	T	C	4: 126,045,065 (GRCm39)	K538R	probably benign	Het
Smyd4	T	A	11: 75,281,958 (GRCm39)	L477Q	possibly damaging	Het
Sra1	A	G	18: 36,801,829 (GRCm39)	M87T	probably benign	Het
Ssh2	T	C	11: 77,328,459 (GRCm39)	Y336H	possibly damaging	Het
Steap1	T	C	5: 5,790,357 (GRCm39)	Y197C	probably damaging	Het
Strn3	A	G	12: 51,673,879 (GRCm39)		probably benign	Het
Tgm3	A	G	2: 129,868,677 (GRCm39)	T205A	probably benign	Het
Tll2	G	A	19: 41,101,512 (GRCm39)	T374I	probably damaging	Het
Tmem63b	C	A	17: 45,971,870 (GRCm39)	D782Y	possibly damaging	Het
Trim10	G	A	17: 37,183,283 (GRCm39)	S193N	probably benign	Het
Ttf1	A	T	2: 28,963,962 (GRCm39)	K613*	probably null	Het
Tube1	T	A	10: 39,010,168 (GRCm39)		probably null	Het
Uimc1	T	A	13: 55,224,222 (GRCm39)		probably null	Het
Wwp2	G	T	8: 108,283,428 (GRCm39)		probably benign	Het
Zfp101	C	T	17: 33,601,418 (GRCm39)	V113I	probably benign	Het
Zfp292	T	C	4: 34,809,114 (GRCm39)	D1310G	probably benign	Het
Zfp575	A	T	7: 24,285,245 (GRCm39)	L132H	probably damaging	Het
Zmym2	T	C	14: 57,194,420 (GRCm39)	F1226S	probably damaging	Het
Zswim6	A	C	13: 107,862,989 (GRCm39)		noncoding transcript	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
R0577:Cdk12	UTSW	11	98,094,332 (GRCm39)	missense	probably damaging	0.99
R0671:Cdk12	UTSW	11	98,120,935 (GRCm39)	splice site	probably benign
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'- CAAAGAGCCTTCTGCTTACCAGTCC -3'
(R):5'- CGAGTTCTGAAGACTATGCACCCG -3'

Sequencing Primer
(F):5'- TTACCAGTCCAGCACTCGG -3'
(R):5'- CCGCTAGGTAGAAGCAAGTTCTC -3'

Posted On

2013-10-16