Mutagenetix > Incidental Mutation

Incidental Mutation 'R2202:Cdk12'

238771

Institutional Source

Beutler Lab

Gene Symbol

Cdk12

Ensembl Gene

ENSMUSG00000003119

Gene Name

cyclin dependent kinase 12

Synonyms

Crkrs, Crk7, D11Ertd752e, 1810022J16Rik

MMRRC Submission

040204-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2202 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98093885-98169330 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 98101464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 441 (S441A)

Ref Sequence

ENSEMBL: ENSMUSP00000103163 (fasta)

Gene Model

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

AlphaFold

Q14AX6

Predicted Effect

unknown
Transcript: ENSMUST00000003203
AA Change: S441A

SMART Domains

Protein: ENSMUSP00000003203
Gene: ENSMUSG00000003119
AA Change: S441A

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: S441A

SMART Domains

Protein: ENSMUSP00000103162
Gene: ENSMUSG00000003119
AA Change: S441A

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: S441A

SMART Domains

Protein: ENSMUSP00000103163
Gene: ENSMUSG00000003119
AA Change: S441A

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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 64,056,011 (GRCm39)	V249A	possibly damaging	Het
9930111J21Rik2	C	G	11: 48,910,149 (GRCm39)	L761F	probably damaging	Het
Abca1	G	A	4: 53,090,291 (GRCm39)	T386I	probably damaging	Het
Abca14	T	C	7: 119,888,764 (GRCm39)	Y1237H	probably benign	Het
Abi3bp	C	T	16: 56,471,088 (GRCm39)	R578*	probably null	Het
Abi3bp	T	G	16: 56,433,566 (GRCm39)	L550R	probably benign	Het
Adamts7	A	T	9: 90,062,729 (GRCm39)	K394N	probably damaging	Het
Ahdc1	A	G	4: 132,793,220 (GRCm39)	E1487G	possibly damaging	Het
AI987944	T	C	7: 41,023,950 (GRCm39)	E343G	probably damaging	Het
Ankrd26	T	A	6: 118,500,843 (GRCm39)	H876L	possibly damaging	Het
Atg16l1	A	C	1: 87,694,737 (GRCm39)	Q138P	probably benign	Het
Atp1b1	G	T	1: 164,281,084 (GRCm39)	T11K	probably benign	Het
Calr3	A	G	8: 73,188,683 (GRCm39)	L40S	probably damaging	Het
Ccar1	A	C	10: 62,581,066 (GRCm39)	D1119E	unknown	Het
Cdan1	C	A	2: 120,551,241 (GRCm39)	C1093F	probably damaging	Het
Ces4a	T	A	8: 105,872,746 (GRCm39)	V333E	probably damaging	Het
Cfap61	T	C	2: 146,056,600 (GRCm39)	L1193P	probably damaging	Het
Chd2	A	T	7: 73,128,416 (GRCm39)	D856E	probably benign	Het
Chil3	T	C	3: 106,071,562 (GRCm39)	D34G	probably benign	Het
Cln3	T	A	7: 126,178,390 (GRCm39)	H211L	probably benign	Het
Cpa1	A	G	6: 30,641,818 (GRCm39)	D214G	probably damaging	Het
Cttnbp2	T	G	6: 18,408,693 (GRCm39)	D976A	probably benign	Het
Dcstamp	T	A	15: 39,617,708 (GRCm39)	V39E	probably damaging	Het
Dicer1	C	T	12: 104,697,297 (GRCm39)	V87M	possibly damaging	Het
Duox1	A	G	2: 122,175,194 (GRCm39)	T1331A	probably benign	Het
Elapor1	C	T	3: 108,382,359 (GRCm39)	G270E	probably damaging	Het
Fam184a	T	A	10: 53,528,530 (GRCm39)	Q29L	probably damaging	Het
Fcer2a	T	C	8: 3,738,557 (GRCm39)	E60G	possibly damaging	Het
Flnc	C	T	6: 29,459,507 (GRCm39)	P2536S	probably damaging	Het
Fnbp1l	A	T	3: 122,340,611 (GRCm39)	M463K	probably benign	Het
Garem2	A	G	5: 30,319,762 (GRCm39)	D408G	probably benign	Het
Gm6370	T	A	5: 146,430,539 (GRCm39)	D241E	probably benign	Het
Gpc3	T	A	X: 51,486,083 (GRCm39)	I344F	probably damaging	Het
Gtf2e1	T	A	16: 37,331,904 (GRCm39)	E390D	possibly damaging	Het
Hmgcs2	T	A	3: 98,198,499 (GRCm39)	I134N	probably damaging	Het
Il15ra	T	A	2: 11,723,155 (GRCm39)		probably null	Het
Ints8	A	T	4: 11,225,712 (GRCm39)	M615K	possibly damaging	Het
Irak1	G	A	X: 73,060,744 (GRCm39)	T193I	probably damaging	Het
Jmjd1c	A	G	10: 67,075,242 (GRCm39)		probably null	Het
Knstrn	T	A	2: 118,661,456 (GRCm39)		probably null	Het
Letm1	C	A	5: 33,926,830 (GRCm39)	V156L	possibly damaging	Het
Lrrc24	G	A	15: 76,607,111 (GRCm39)	P95L	probably damaging	Het
Map2k2	T	C	10: 80,955,213 (GRCm39)	S14P	probably damaging	Het
Me3	T	C	7: 89,499,589 (GRCm39)	Y535H	probably damaging	Het
Nfatc2ip	T	C	7: 125,990,467 (GRCm39)	E178G	probably benign	Het
Nop56	T	A	2: 130,119,488 (GRCm39)	I51N	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Nudt5	A	T	2: 5,860,794 (GRCm39)	I22F	possibly damaging	Het
Or10a2	T	A	7: 106,673,523 (GRCm39)	W163R	probably damaging	Het
Or2m12	C	T	16: 19,105,047 (GRCm39)	A149T	probably benign	Het
Or4p23	C	G	2: 88,576,953 (GRCm39)	G93A	probably benign	Het
Pbrm1	A	G	14: 30,754,406 (GRCm39)	D142G	possibly damaging	Het
Pdcl	A	T	2: 37,242,056 (GRCm39)	N231K	probably benign	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pid1	T	A	1: 84,016,159 (GRCm39)	I69F	probably damaging	Het
Pkhd1	A	G	1: 20,607,584 (GRCm39)	S1091P	probably benign	Het
Plcb4	T	C	2: 135,844,514 (GRCm39)	I144T	probably benign	Het
Plxnd1	T	C	6: 115,939,725 (GRCm39)	N1418S	probably benign	Het
Pmm1	T	C	15: 81,840,601 (GRCm39)	T82A	probably benign	Het
Prrc2b	C	A	2: 32,113,476 (GRCm39)	Q1970K	probably damaging	Het
Ptprz1	C	T	6: 23,000,649 (GRCm39)	T913M	possibly damaging	Het
Ralgapa1	T	C	12: 55,659,585 (GRCm39)		probably null	Het
Rbm8a2	T	C	1: 175,806,420 (GRCm39)	E19G	possibly damaging	Het
Rgs3	T	C	4: 62,608,741 (GRCm39)	S336P	probably damaging	Het
Saxo5	A	T	8: 3,529,028 (GRCm39)	D201V	probably benign	Het
Serpina11	G	T	12: 103,952,233 (GRCm39)	T179K	probably damaging	Het
Serpina1f	T	C	12: 103,659,655 (GRCm39)	N209S	possibly damaging	Het
Serpinf2	G	A	11: 75,327,588 (GRCm39)	T159I	probably benign	Het
Slc19a1	T	C	10: 76,877,758 (GRCm39)	C98R	possibly damaging	Het
Slc22a20	A	T	19: 6,021,553 (GRCm39)	I483N	possibly damaging	Het
Spata31d1d	A	G	13: 59,879,435 (GRCm39)	C34R	possibly damaging	Het
Stoml2	G	T	4: 43,030,243 (GRCm39)	Y119*	probably null	Het
Susd1	A	G	4: 59,349,843 (GRCm39)	L531P	possibly damaging	Het
Timd5	A	G	11: 46,419,394 (GRCm39)	N70S	probably benign	Het
Tln1	C	T	4: 43,553,083 (GRCm39)		probably null	Het
Tmem39b	A	C	4: 129,587,716 (GRCm39)	S32A	probably benign	Het
Tmx3	T	C	18: 90,546,037 (GRCm39)	F206S	probably damaging	Het
Tnfsf14	T	C	17: 57,497,638 (GRCm39)	D198G	possibly damaging	Het
Trappc10	A	G	10: 78,034,876 (GRCm39)		probably null	Het
Tssk2	A	G	16: 17,716,603 (GRCm39)	D2G	possibly damaging	Het
Ttn	T	C	2: 76,601,985 (GRCm39)	N18559S	possibly damaging	Het
Ube3b	G	A	5: 114,527,135 (GRCm39)	V118M	probably damaging	Het
Vmn1r23	T	C	6: 57,903,604 (GRCm39)	D58G	probably benign	Het
Vmn2r53	T	A	7: 12,335,366 (GRCm39)	Y98F	probably damaging	Het
Vmn2r58	T	A	7: 41,513,594 (GRCm39)	N350Y	probably benign	Het
Vmn2r82	A	T	10: 79,192,519 (GRCm39)	H32L	probably benign	Het
Wsb1	T	C	11: 79,131,212 (GRCm39)	I395V	probably benign	Het
Zbtb47	A	G	9: 121,591,703 (GRCm39)	T8A	possibly damaging	Het
Zfat	T	C	15: 68,051,709 (GRCm39)	D695G	probably benign	Het
Zfp358	G	T	8: 3,546,995 (GRCm39)	V526F	possibly damaging	Het
Zmat1	A	G	X: 133,873,861 (GRCm39)	L476P	possibly 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
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
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
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'- AAAGAAGCGATCCGGGTCAC -3'
(R):5'- CGGTGCTACAGGTTTAACGTC -3'

Sequencing Primer
(F):5'- ATTCCAGTATCTCACCTGTCAGG -3'
(R):5'- GCTACAGGTTTAACGTCCTTTG -3'

Posted On

2014-10-02