Mutagenetix > Incidental Mutation

Incidental Mutation 'R1344:Cdk12'

200755

Institutional Source

Beutler Lab

Gene Symbol

Cdk12

Ensembl Gene

ENSMUSG00000003119

Gene Name

cyclin dependent kinase 12

Synonyms

Crkrs, Crk7, D11Ertd752e, 1810022J16Rik

MMRRC Submission

039409-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1344 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98093885-98169330 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98132611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1013 (S1013R)

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: S1013R

SMART Domains

Protein: ENSMUSP00000003203
Gene: ENSMUSG00000003119
AA Change: S1013R

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: S1013R

SMART Domains

Protein: ENSMUSP00000103162
Gene: ENSMUSG00000003119
AA Change: S1013R

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: S1013R

SMART Domains

Protein: ENSMUSP00000103163
Gene: ENSMUSG00000003119
AA Change: S1013R

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

0.0869

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	G	6: 52,156,131 (GRCm39)		probably benign	Het
Aco1	T	C	4: 40,179,008 (GRCm39)	Y336H	probably damaging	Het
Adamts12	T	A	15: 11,286,890 (GRCm39)	W832R	probably damaging	Het
Asxl2	A	G	12: 3,543,790 (GRCm39)	K320E	probably damaging	Het
Atrnl1	G	A	19: 57,924,137 (GRCm39)		probably null	Het
B4galnt2	A	C	11: 95,760,181 (GRCm39)	I282S	probably benign	Het
Bcl2l13	T	C	6: 120,853,288 (GRCm39)	I191T	probably benign	Het
Bltp3a	A	G	17: 28,113,551 (GRCm39)	K1241R	probably benign	Het
Cd101	A	T	3: 100,926,091 (GRCm39)	Y209*	probably null	Het
Cd109	A	T	9: 78,579,832 (GRCm39)		probably null	Het
Cdc34	G	A	10: 79,521,134 (GRCm39)	A128T	probably damaging	Het
Cntd1	T	A	11: 101,176,566 (GRCm39)	L221Q	possibly damaging	Het
Cntn4	G	A	6: 106,321,831 (GRCm39)		probably null	Het
Col12a1	T	A	9: 79,606,837 (GRCm39)	K529*	probably null	Het
Col17a1	T	A	19: 47,659,944 (GRCm39)	D336V	probably damaging	Het
Creb3l4	A	G	3: 90,146,045 (GRCm39)	I193T	possibly damaging	Het
Cyp2d10	A	T	15: 82,290,106 (GRCm39)		probably null	Het
Dcun1d3	A	G	7: 119,457,158 (GRCm39)	F185L	probably damaging	Het
Dlec1	G	A	9: 118,959,085 (GRCm39)	E910K	probably benign	Het
Dnajc19	T	A	3: 34,112,161 (GRCm39)	N128I	probably damaging	Het
Dusp1	A	G	17: 26,727,293 (GRCm39)	V2A	probably benign	Het
Eea1	G	A	10: 95,830,861 (GRCm39)		probably null	Het
Elf1	T	C	14: 79,798,215 (GRCm39)	V34A	probably damaging	Het
Extl1	T	C	4: 134,086,552 (GRCm39)	D501G	probably damaging	Het
Fcgr2b	T	C	1: 170,788,650 (GRCm39)	Y319C	probably damaging	Het
Fhip2a	G	A	19: 57,359,594 (GRCm39)	A45T	possibly damaging	Het
Fxr2	A	G	11: 69,539,710 (GRCm39)	H247R	possibly damaging	Het
Gask1a	A	T	9: 121,807,452 (GRCm39)	H532L	probably damaging	Het
Gfra1	A	C	19: 58,226,849 (GRCm39)	S461A	possibly damaging	Het
Gli2	T	G	1: 118,769,666 (GRCm39)	I629L	probably damaging	Het
Gpx3	G	A	11: 54,800,422 (GRCm39)	V207I	probably damaging	Het
Helz2	T	C	2: 180,879,389 (GRCm39)	D743G	possibly damaging	Het
Hormad2	A	G	11: 4,359,005 (GRCm39)		probably null	Het
Ifitm1	C	T	7: 140,548,263 (GRCm39)	T32M	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Lrit2	A	G	14: 36,790,513 (GRCm39)	N64S	probably benign	Het
Lsm14a	A	T	7: 34,052,982 (GRCm39)	D322E	probably damaging	Het
Macf1	T	G	4: 123,327,246 (GRCm39)	R4752S	probably damaging	Het
Mark3	T	C	12: 111,594,271 (GRCm39)	I307T	possibly damaging	Het
Mpdz	T	A	4: 81,226,556 (GRCm39)	T1360S	probably benign	Het
Mtif2	G	A	11: 29,495,002 (GRCm39)	V701I	probably benign	Het
Myh3	A	G	11: 66,983,158 (GRCm39)	E895G	probably benign	Het
Ncan	A	C	8: 70,560,819 (GRCm39)	I716R	probably benign	Het
Ncor2	C	T	5: 125,102,510 (GRCm39)	R1867K	probably damaging	Het
Oas1d	C	T	5: 121,052,959 (GRCm39)	L5F	probably damaging	Het
Or10s1	T	A	9: 39,985,768 (GRCm39)	L59H	probably damaging	Het
Or11h4b	T	A	14: 50,918,315 (GRCm39)	M259L	probably benign	Het
Or13a17	T	C	7: 140,271,712 (GRCm39)	V298A	probably damaging	Het
Or3a4	A	T	11: 73,945,038 (GRCm39)	C182*	probably null	Het
Otog	G	T	7: 45,924,039 (GRCm39)	A1133S	probably damaging	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Pdcd11	A	G	19: 47,118,516 (GRCm39)	D1794G	probably damaging	Het
Pde1c	T	C	6: 56,338,752 (GRCm39)	I27V	probably benign	Het
Pde4d	C	A	13: 110,086,921 (GRCm39)	S609*	probably null	Het
Piezo2	T	A	18: 63,154,325 (GRCm39)	I2485F	probably damaging	Het
Plekhd1	A	G	12: 80,739,659 (GRCm39)	T3A	probably benign	Het
Plscr1	C	T	9: 92,141,357 (GRCm39)	T15I	unknown	Het
Rd3	T	C	1: 191,717,262 (GRCm39)	*106R	probably null	Het
Rnf125	A	G	18: 21,114,288 (GRCm39)	I97V	possibly damaging	Het
Sec24b	T	C	3: 129,801,072 (GRCm39)	N408S	probably damaging	Het
Sf3b3	G	C	8: 111,564,935 (GRCm39)	A291G	probably damaging	Het
Simc1	T	C	13: 54,698,292 (GRCm39)	V403A	probably damaging	Het
Slc38a9	T	C	13: 112,826,714 (GRCm39)	C151R	probably benign	Het
Slco1a8	A	G	6: 141,931,344 (GRCm39)	S474P	probably damaging	Het
Slitrk5	A	G	14: 111,917,821 (GRCm39)	S482G	probably benign	Het
Smyd1	G	A	6: 71,239,151 (GRCm39)	T13I	probably benign	Het
Speer4a3	T	A	5: 26,158,107 (GRCm39)	T82S	probably benign	Het
Stoml2	T	A	4: 43,028,197 (GRCm39)	I344F	probably benign	Het
Tet1	C	T	10: 62,650,300 (GRCm39)	R1636H	probably damaging	Het
Thap12	A	G	7: 98,366,037 (GRCm39)	D735G	probably damaging	Het
Tnip3	T	C	6: 65,574,413 (GRCm39)	V88A	probably benign	Het
Ttn	A	G	2: 76,565,755 (GRCm39)	V28199A	possibly damaging	Het
Ube3b	T	C	5: 114,556,636 (GRCm39)	F989S	probably damaging	Het
Ubox5	A	G	2: 130,442,210 (GRCm39)	L159P	probably damaging	Het
Uevld	A	T	7: 46,587,758 (GRCm39)	V314E	possibly damaging	Het
Urb1	T	C	16: 90,566,354 (GRCm39)	M1478V	probably damaging	Het
Ust	C	A	10: 8,173,954 (GRCm39)	V184F	possibly damaging	Het
Wdr95	G	A	5: 149,511,563 (GRCm39)	C421Y	probably 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
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'- TCATGCCTTAGAGCTGTTGCTCAC -3'
(R):5'- TGACCCTTACTGACCTGACACTGAC -3'

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

Posted On

2014-05-23