Mutagenetix > Incidental Mutation

Incidental Mutation 'R1756:Cdk12'

194881

Institutional Source

Beutler Lab

Gene Symbol

Cdk12

Ensembl Gene

ENSMUSG00000003119

Gene Name

cyclin dependent kinase 12

Synonyms

Crkrs, Crk7, D11Ertd752e, 1810022J16Rik

MMRRC Submission

039788-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1756 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98093885-98169330 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 98132587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 1005 (C1005*)

Ref Sequence

ENSEMBL: ENSMUSP00000103163 (fasta)

Gene Model

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

AlphaFold

Q14AX6

Predicted Effect

probably null
Transcript: ENSMUST00000003203
AA Change: C1005*

SMART Domains

Protein: ENSMUSP00000003203
Gene: ENSMUSG00000003119
AA Change: C1005*

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 null
Transcript: ENSMUST00000107538
AA Change: C1005*

SMART Domains

Protein: ENSMUSP00000103162
Gene: ENSMUSG00000003119
AA Change: C1005*

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 null
Transcript: ENSMUST00000107539
AA Change: C1005*

SMART Domains

Protein: ENSMUSP00000103163
Gene: ENSMUSG00000003119
AA Change: C1005*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184250

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

100% (96/96)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	C	A	8: 100,148,514 (GRCm39)		noncoding transcript	Het
Acin1	A	G	14: 54,902,661 (GRCm39)	V377A	probably benign	Het
Adam39	A	T	8: 41,278,361 (GRCm39)	I251F	probably damaging	Het
Adnp2	A	T	18: 80,170,912 (GRCm39)	*1166K	probably null	Het
Akap12	T	A	10: 4,307,574 (GRCm39)	D1461E	probably benign	Het
Aopep	T	A	13: 63,215,875 (GRCm39)	H382Q	possibly damaging	Het
Apba1	A	G	19: 23,871,056 (GRCm39)	D296G	possibly damaging	Het
Apol7a	G	T	15: 77,277,671 (GRCm39)	L26M	possibly damaging	Het
Bcl2	C	T	1: 106,640,122 (GRCm39)	M163I	probably damaging	Het
Cap2	T	G	13: 46,684,489 (GRCm39)	I53R	probably benign	Het
Ccdc74a	T	C	16: 17,468,332 (GRCm39)	V318A	possibly damaging	Het
Ccnb2	A	G	9: 70,318,070 (GRCm39)	V234A	probably benign	Het
Cd207	C	T	6: 83,652,579 (GRCm39)	V184I	probably benign	Het
Cep83	T	C	10: 94,586,129 (GRCm39)	S344P	probably damaging	Het
Ces1g	A	T	8: 94,033,582 (GRCm39)	Y447N	probably benign	Het
Cfap54	A	T	10: 92,883,923 (GRCm39)	L277Q	probably damaging	Het
Cfh	A	G	1: 140,028,615 (GRCm39)	Y1027H	probably damaging	Het
Clcnkb	T	A	4: 141,142,525 (GRCm39)	I28F	possibly damaging	Het
Clec4d	A	G	6: 123,244,068 (GRCm39)	D59G	probably damaging	Het
Colq	G	A	14: 31,269,409 (GRCm39)	P153S	probably damaging	Het
Crybg1	T	A	10: 43,862,275 (GRCm39)	T1500S	probably damaging	Het
Cyp2d34	T	A	15: 82,501,725 (GRCm39)	R262W	probably damaging	Het
Dennd4b	C	G	3: 90,178,912 (GRCm39)	L559V	probably damaging	Het
Dhrs1	A	G	14: 55,976,766 (GRCm39)	V306A	probably benign	Het
Diaph1	A	T	18: 37,987,626 (GRCm39)	D1043E	possibly damaging	Het
Dis3	G	T	14: 99,323,539 (GRCm39)	D538E	probably damaging	Het
Dnai2	T	G	11: 114,641,206 (GRCm39)	S344A	probably benign	Het
Dner	C	T	1: 84,423,311 (GRCm39)	V431M	probably damaging	Het
Dnm1l	A	G	16: 16,160,559 (GRCm39)		probably null	Het
Eps15	T	G	4: 109,170,115 (GRCm39)	L139*	probably null	Het
Fam193a	T	A	5: 34,623,636 (GRCm39)	I55N	possibly damaging	Het
Gm10308	T	A	17: 91,396,385 (GRCm39)	Y102*	probably null	Het
Gm10509	A	G	17: 21,909,762 (GRCm39)	K30E	possibly damaging	Het
Gpr155	T	C	2: 73,197,921 (GRCm39)	M400V	probably benign	Het
H2-M10.2	T	C	17: 36,597,015 (GRCm39)		probably benign	Het
Heatr1	G	T	13: 12,411,341 (GRCm39)	A61S	probably benign	Het
Helb	G	T	10: 119,930,147 (GRCm39)	T744K	probably damaging	Het
Hmcn1	C	A	1: 150,474,781 (GRCm39)	W4702L	probably damaging	Het
Hmcn2	C	T	2: 31,286,132 (GRCm39)	R2095W	probably damaging	Het
Igfbp3	G	C	11: 7,158,461 (GRCm39)	D267E	probably damaging	Het
Ighmbp2	T	A	19: 3,318,669 (GRCm39)	H469L	probably damaging	Het
Kcnj3	A	C	2: 55,327,232 (GRCm39)	K7T	probably damaging	Het
Krtap5-5	T	G	7: 141,783,358 (GRCm39)	K97N	unknown	Het
Lcor	T	C	19: 41,547,705 (GRCm39)	S430P	probably benign	Het
Lpin1	A	G	12: 16,588,541 (GRCm39)	V883A	probably damaging	Het
Lrp1b	T	C	2: 41,000,837 (GRCm39)	Y2243C	probably damaging	Het
Lrrc46	G	A	11: 96,925,556 (GRCm39)		probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mpdz	C	T	4: 81,225,114 (GRCm39)	V1438M	possibly damaging	Het
Muc21	A	T	17: 35,930,131 (GRCm39)		probably benign	Het
Ncbp1	T	A	4: 46,169,131 (GRCm39)	L635*	probably null	Het
Nipbl	T	C	15: 8,368,035 (GRCm39)	N1202D	possibly damaging	Het
Nphs1	A	G	7: 30,160,959 (GRCm39)	D196G	probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or2b2b	A	G	13: 21,858,865 (GRCm39)	I83T	probably benign	Het
Or8b42	A	T	9: 38,342,291 (GRCm39)	I238F	probably benign	Het
Or8k16	A	G	2: 85,520,427 (GRCm39)	Y218C	probably damaging	Het
Pax8	A	T	2: 24,325,833 (GRCm39)	N350K	probably damaging	Het
Pik3cd	T	C	4: 149,743,207 (GRCm39)	K298E	probably benign	Het
Pkd1	C	T	17: 24,813,459 (GRCm39)	R4000C	probably damaging	Het
Pkn2	A	T	3: 142,516,488 (GRCm39)	V546D	possibly damaging	Het
Plcg2	A	G	8: 118,319,447 (GRCm39)	K673E	probably benign	Het
Pld4	T	G	12: 112,729,826 (GRCm39)		probably null	Het
Plek	A	T	11: 16,942,901 (GRCm39)	N130K	probably damaging	Het
Prune2	G	A	19: 17,101,068 (GRCm39)	D2191N	probably benign	Het
Ptgis	T	C	2: 167,048,723 (GRCm39)	Y431C	probably damaging	Het
Rhbdf2	T	C	11: 116,498,092 (GRCm39)	S36G	probably benign	Het
Rtn4ip1	C	T	10: 43,786,826 (GRCm39)	A178V	probably damaging	Het
Rxfp1	A	G	3: 79,578,188 (GRCm39)	S168P	probably benign	Het
Sec24a	A	G	11: 51,624,590 (GRCm39)		probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Slitrk6	C	T	14: 110,987,984 (GRCm39)	M574I	probably benign	Het
Slk	T	C	19: 47,611,116 (GRCm39)	F861L	probably damaging	Het
Smpd3	C	A	8: 106,991,603 (GRCm39)	A317S	probably benign	Het
Spopfm1	A	T	3: 94,173,525 (GRCm39)	M174L	probably benign	Het
Spz1	T	A	13: 92,711,633 (GRCm39)	Q281L	probably damaging	Het
Syde1	T	A	10: 78,422,814 (GRCm39)	R519S	probably benign	Het
Taf4	T	C	2: 179,618,324 (GRCm39)	H39R	unknown	Het
Tbx5	A	T	5: 119,983,178 (GRCm39)		probably null	Het
Tektl1	T	A	10: 78,583,031 (GRCm39)	K451M	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Th	G	A	7: 142,451,903 (GRCm39)	Q19*	probably null	Het
Tmprss11a	T	A	5: 86,568,038 (GRCm39)	I230F	probably damaging	Het
Tnfrsf14	T	A	4: 155,009,779 (GRCm39)	H50L	possibly damaging	Het
Tpp2	T	A	1: 44,017,885 (GRCm39)		probably null	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trim2	A	G	3: 84,098,107 (GRCm39)	I398T	possibly damaging	Het
Trpc5	A	T	X: 143,264,222 (GRCm39)	S212T	probably damaging	Het
Ttn	A	G	2: 76,617,678 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,678,407 (GRCm39)	T2063A	possibly damaging	Het
Usp37	A	T	1: 74,518,814 (GRCm39)	S260T	probably benign	Het
Vcan	A	G	13: 89,839,800 (GRCm39)	S1915P	probably benign	Het
Vmn1r33	T	A	6: 66,589,282 (GRCm39)	I91F	possibly damaging	Het
Zfp422	T	C	6: 116,603,385 (GRCm39)	T205A	probably benign	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
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'- TCATGCCTTAGAGCTGTTGCTCAC -3'
(R):5'- TGACCCTTACTGACCTGACACTGAC -3'

Sequencing Primer
(F):5'- CTTAGAGCTGTTGCTCACATTAG -3'
(R):5'- AGAACTGTTCTTTCAGTGTGAGAAG -3'

Posted On

2014-05-23