Mutagenetix > Incidental Mutation

Incidental Mutation 'R1844:Map3k12'

207592

Institutional Source

Beutler Lab

Gene Symbol

Map3k12

Ensembl Gene

ENSMUSG00000023050

Gene Name

mitogen-activated protein kinase kinase kinase 12

Synonyms

MUK, DLK, Zpk

MMRRC Submission

039869-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1844 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102406079-102425311 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102411970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 365 (P365S)

Ref Sequence

ENSEMBL: ENSMUSP00000127629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023812] [ENSMUST00000077037] [ENSMUST00000078404] [ENSMUST00000096145] [ENSMUST00000108838] [ENSMUST00000165174] [ENSMUST00000169377] [ENSMUST00000171565] [ENSMUST00000229802] [ENSMUST00000231085] [ENSMUST00000229184] [ENSMUST00000169367] [ENSMUST00000229918] [ENSMUST00000229854] [ENSMUST00000229061] [ENSMUST00000229618] [ENSMUST00000169162]

AlphaFold

Q60700

Predicted Effect

probably damaging
Transcript: ENSMUST00000023812
AA Change: P365S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023812
Gene: ENSMUSG00000023050
AA Change: P365S

Domain	Start	End	E-Value	Type
low complexity region	54	75	N/A	INTRINSIC
Pfam:Pkinase	158	397	3.3e-59	PFAM
Pfam:Pkinase_Tyr	159	397	2.7e-62	PFAM
coiled coil region	447	501	N/A	INTRINSIC
low complexity region	559	577	N/A	INTRINSIC
low complexity region	599	617	N/A	INTRINSIC
low complexity region	640	663	N/A	INTRINSIC
low complexity region	664	678	N/A	INTRINSIC
low complexity region	691	727	N/A	INTRINSIC
low complexity region	751	764	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077037

SMART Domains

Protein: ENSMUSP00000076294
Gene: ENSMUSG00000056851

Domain	Start	End	E-Value	Type
KH	12	80	5.96e-15	SMART
KH	96	167	2.48e-12	SMART
KH	283	353	5.19e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000078404

SMART Domains

Protein: ENSMUSP00000077509
Gene: ENSMUSG00000056851

Domain	Start	End	E-Value	Type
KH	12	80	5.96e-15	SMART
KH	96	167	2.48e-12	SMART
KH	270	340	5.19e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000096145

SMART Domains

Protein: ENSMUSP00000093859
Gene: ENSMUSG00000071586

Domain	Start	End	E-Value	Type
low complexity region	29	37	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108838

SMART Domains

Protein: ENSMUSP00000104466
Gene: ENSMUSG00000056851

Domain	Start	End	E-Value	Type
KH	12	80	5.96e-15	SMART
KH	96	167	2.48e-12	SMART
KH	252	322	5.19e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164343

Predicted Effect

probably benign
Transcript: ENSMUST00000165174

Predicted Effect

probably damaging
Transcript: ENSMUST00000169377
AA Change: P365S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133209
Gene: ENSMUSG00000023050
AA Change: P365S

Domain	Start	End	E-Value	Type
low complexity region	54	75	N/A	INTRINSIC
Pfam:Pkinase	159	397	1.2e-58	PFAM
Pfam:Pkinase_Tyr	160	397	3.7e-62	PFAM
coiled coil region	447	501	N/A	INTRINSIC
low complexity region	559	577	N/A	INTRINSIC
low complexity region	599	617	N/A	INTRINSIC
low complexity region	640	663	N/A	INTRINSIC
low complexity region	664	678	N/A	INTRINSIC
low complexity region	691	727	N/A	INTRINSIC
low complexity region	751	764	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000171565
AA Change: P365S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127629
Gene: ENSMUSG00000023050
AA Change: P365S

Domain	Start	End	E-Value	Type
low complexity region	54	75	N/A	INTRINSIC
Pfam:Pkinase	158	397	3.3e-59	PFAM
Pfam:Pkinase_Tyr	159	397	2.7e-62	PFAM
coiled coil region	447	501	N/A	INTRINSIC
low complexity region	559	577	N/A	INTRINSIC
low complexity region	599	617	N/A	INTRINSIC
low complexity region	640	663	N/A	INTRINSIC
low complexity region	664	678	N/A	INTRINSIC
low complexity region	691	727	N/A	INTRINSIC
low complexity region	751	764	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230631

Predicted Effect

probably benign
Transcript: ENSMUST00000229802

Predicted Effect

probably benign
Transcript: ENSMUST00000231085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229822

Predicted Effect

probably benign
Transcript: ENSMUST00000229184

Predicted Effect

probably benign
Transcript: ENSMUST00000169367

Predicted Effect

probably benign
Transcript: ENSMUST00000229918

Predicted Effect

probably benign
Transcript: ENSMUST00000229854

Predicted Effect

probably benign
Transcript: ENSMUST00000229061

Predicted Effect

probably benign
Transcript: ENSMUST00000229618

Predicted Effect

probably benign
Transcript: ENSMUST00000169162

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine protein kinase family. This kinase contains a leucine-zipper domain and is predominately expressed in neuronal cells. The phosphorylation state of this kinase in synaptic terminals was shown to be regulated by membrane depolarization via calcineurin. This kinase forms heterodimers with leucine zipper containing transcription factors, such as cAMP responsive element binding protein (CREB) and MYC, and thus may play a regulatory role in PKA or retinoic acid induced neuronal differentiation. Alternatively spliced transcript variants encoding different proteins have been described.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a gene-trapped allele lack the brain anterior commissure. Mice homozygous for a knock-out allele exhibit postnatal lethality and abnormal axon growth and radial migration of neocortical pyramidal neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	A	G	4: 40,197,566 (GRCm39)	K857E	probably benign	Het
Adam20	A	G	8: 41,249,080 (GRCm39)	N397D	probably benign	Het
Adgrf3	T	G	5: 30,404,211 (GRCm39)	D347A	probably damaging	Het
Ang6	C	T	14: 44,239,330 (GRCm39)	E133K	possibly damaging	Het
Arhgap23	T	A	11: 97,354,234 (GRCm39)	W205R	probably damaging	Het
Arhgef40	C	A	14: 52,235,080 (GRCm39)	R1086S	probably damaging	Het
Atr	G	T	9: 95,787,870 (GRCm39)	A1488S	probably benign	Het
Cabin1	A	T	10: 75,579,184 (GRCm39)		probably null	Het
Cby2	C	T	14: 75,820,850 (GRCm39)	V292I	probably benign	Het
Cdh22	A	C	2: 164,985,614 (GRCm39)	F324C	probably damaging	Het
Cep350	T	C	1: 155,724,374 (GRCm39)	I3075V	probably damaging	Het
Chd9	A	T	8: 91,683,323 (GRCm39)	K588*	probably null	Het
Clns1a	A	T	7: 97,346,066 (GRCm39)	I44F	probably damaging	Het
Colgalt1	T	C	8: 72,063,995 (GRCm39)	I51T	possibly damaging	Het
Cpt2	C	T	4: 107,761,452 (GRCm39)	E217K	possibly damaging	Het
Ctss	A	G	3: 95,454,105 (GRCm39)		probably null	Het
Cyp1a1	A	G	9: 57,609,980 (GRCm39)	T465A	probably benign	Het
Dbn1	A	G	13: 55,629,160 (GRCm39)		probably null	Het
Dennd1b	A	G	1: 139,018,143 (GRCm39)		probably null	Het
Dnajc1	A	C	2: 18,298,838 (GRCm39)	Y49*	probably null	Het
Dock10	T	A	1: 80,520,918 (GRCm39)	I1188L	probably damaging	Het
Dsg1c	T	G	18: 20,416,096 (GRCm39)		probably null	Het
Efcab6	G	A	15: 83,851,822 (GRCm39)	T352I	possibly damaging	Het
Eps8l3	T	C	3: 107,786,902 (GRCm39)	L26P	possibly damaging	Het
Fbxw26	A	G	9: 109,553,946 (GRCm39)	V231A	probably benign	Het
Fetub	G	A	16: 22,754,419 (GRCm39)	E209K	possibly damaging	Het
Galc	A	T	12: 98,212,556 (GRCm39)		probably null	Het
Gm6871	A	T	7: 41,222,892 (GRCm39)	N65K	probably benign	Het
Gstp3	A	G	19: 4,107,540 (GRCm39)	I208T	probably benign	Het
Gtpbp3	A	G	8: 71,945,272 (GRCm39)	Y448C	probably benign	Het
Hdac7	G	T	15: 97,705,857 (GRCm39)	Q385K	probably damaging	Het
Hemgn	C	T	4: 46,396,655 (GRCm39)	V194M	possibly damaging	Het
Idh2	G	C	7: 79,748,625 (GRCm39)	T113R	probably benign	Het
Jarid2	A	C	13: 45,056,219 (GRCm39)	K336T	possibly damaging	Het
Kcnj4	C	T	15: 79,369,216 (GRCm39)	V255M	probably damaging	Het
Ldhb	C	A	6: 142,439,934 (GRCm39)	W202L	probably damaging	Het
Lmbrd2	T	A	15: 9,177,838 (GRCm39)	Y512*	probably null	Het
Lrp1	A	G	10: 127,431,152 (GRCm39)		probably null	Het
Map3k5	G	A	10: 19,979,909 (GRCm39)	D806N	probably benign	Het
Matn3	A	G	12: 9,017,662 (GRCm39)	E438G	possibly damaging	Het
Mcmbp	G	A	7: 128,325,698 (GRCm39)	L97F	probably damaging	Het
Mmp3	A	T	9: 7,453,662 (GRCm39)	I428L	probably benign	Het
Mphosph8	T	C	14: 56,934,616 (GRCm39)	V855A	probably damaging	Het
Mycbp2	T	A	14: 103,393,150 (GRCm39)	H3027L	possibly damaging	Het
Nbea	C	T	3: 55,989,857 (GRCm39)	R333H	probably damaging	Het
Notch1	G	T	2: 26,350,446 (GRCm39)	H2231Q	probably benign	Het
Npas2	A	T	1: 39,364,456 (GRCm39)	H266L	probably damaging	Het
Oas3	A	G	5: 120,898,045 (GRCm39)	S833P	probably damaging	Het
Or1j15	T	C	2: 36,458,789 (GRCm39)	Y60H	probably damaging	Het
Or5ak24	T	C	2: 85,260,265 (GRCm39)	T303A	probably benign	Het
Or5w17	A	C	2: 87,584,334 (GRCm39)	M1R	probably null	Het
Or6c65	G	A	10: 129,603,725 (GRCm39)	R120H	probably benign	Het
Pak4	C	T	7: 28,264,690 (GRCm39)	V71I	possibly damaging	Het
Pitpnm1	T	C	19: 4,162,395 (GRCm39)	V1075A	probably damaging	Het
Pkp3	G	A	7: 140,668,415 (GRCm39)	V555M	probably damaging	Het
Plekhm2	T	C	4: 141,359,685 (GRCm39)	T381A	probably benign	Het
Plppr3	A	G	10: 79,702,244 (GRCm39)		probably null	Het
Ppp2r5e	A	T	12: 75,516,540 (GRCm39)	F216I	possibly damaging	Het
Ppp3ca	T	A	3: 136,627,672 (GRCm39)	V412D	probably benign	Het
Prss50	A	G	9: 110,687,081 (GRCm39)		probably benign	Het
Psph	A	C	5: 129,843,532 (GRCm39)	I174R	probably damaging	Het
Ptov1	A	G	7: 44,514,991 (GRCm39)	Y207H	possibly damaging	Het
Ptprs	A	G	17: 56,741,510 (GRCm39)	S585P	probably damaging	Het
Rnf146	A	T	10: 29,223,720 (GRCm39)	H55Q	probably damaging	Het
Rnf213	T	A	11: 119,332,009 (GRCm39)	M2407K	probably damaging	Het
Rnls	A	C	19: 33,179,931 (GRCm39)	L55R	possibly damaging	Het
Rptor	T	C	11: 119,647,146 (GRCm39)	C246R	probably damaging	Het
Rrp12	C	T	19: 41,866,222 (GRCm39)		probably null	Het
Samd3	A	G	10: 26,127,672 (GRCm39)	D223G	probably damaging	Het
Sdad1	G	A	5: 92,453,155 (GRCm39)	Q68*	probably null	Het
Selenov	G	A	7: 27,989,847 (GRCm39)	T219M	probably damaging	Het
Shd	A	G	17: 56,278,554 (GRCm39)	D39G	possibly damaging	Het
Slc26a10	A	T	10: 127,014,279 (GRCm39)	V245E	probably damaging	Het
Slit1	A	G	19: 41,614,012 (GRCm39)	L820P	probably damaging	Het
Snap23	T	C	2: 120,421,163 (GRCm39)	F96L	probably benign	Het
Speer1k	T	C	5: 10,998,994 (GRCm39)		probably benign	Het
Spef1l	A	T	7: 139,556,005 (GRCm39)	I212N	probably benign	Het
Stkld1	A	G	2: 26,840,115 (GRCm39)	H395R	probably damaging	Het
Syt13	G	A	2: 92,771,165 (GRCm39)	G84D	probably damaging	Het
Terb2	T	A	2: 122,016,990 (GRCm39)	L37Q	probably damaging	Het
Themis	A	G	10: 28,657,753 (GRCm39)	Y107C	probably damaging	Het
Top2a	T	A	11: 98,906,895 (GRCm39)	T249S	probably benign	Het
Tspo2	A	T	17: 48,756,148 (GRCm39)	F71Y	probably damaging	Het
Ttc21b	T	A	2: 66,053,921 (GRCm39)	K753*	probably null	Het
Ttk	A	G	9: 83,736,915 (GRCm39)	Y458C	possibly damaging	Het
Ttn	T	C	2: 76,586,017 (GRCm39)	R21905G	probably damaging	Het
Ugt3a1	T	A	15: 9,351,254 (GRCm39)	F88I	probably benign	Het
Vmn1r119	A	G	7: 20,746,121 (GRCm39)	L87P	probably damaging	Het
Vmn1r36	A	G	6: 66,693,747 (GRCm39)	F6L	probably benign	Het
Vmn2r15	T	A	5: 109,434,860 (GRCm39)	K615*	probably null	Het
Wdr18	G	A	10: 79,802,561 (GRCm39)		probably null	Het
Wdr6	A	T	9: 108,453,176 (GRCm39)	W236R	probably damaging	Het
Zbtb48	T	C	4: 152,110,955 (GRCm39)	T187A	probably benign	Het

Other mutations in Map3k12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01615:Map3k12	APN	15	102,412,186 (GRCm39)	missense	probably damaging	1.00
IGL01713:Map3k12	APN	15	102,410,756 (GRCm39)	missense	probably damaging	1.00
IGL01720:Map3k12	APN	15	102,410,621 (GRCm39)	unclassified	probably benign
IGL02262:Map3k12	APN	15	102,410,510 (GRCm39)	missense	probably damaging	1.00
IGL02670:Map3k12	APN	15	102,411,981 (GRCm39)	missense	probably benign	0.09
IGL03004:Map3k12	APN	15	102,412,631 (GRCm39)	missense	possibly damaging	0.96
IGL03369:Map3k12	APN	15	102,410,514 (GRCm39)	missense	possibly damaging	0.47
react	UTSW	15	102,413,837 (GRCm39)	missense	probably damaging	1.00
R0894:Map3k12	UTSW	15	102,410,613 (GRCm39)	missense	probably damaging	1.00
R0918:Map3k12	UTSW	15	102,412,287 (GRCm39)	missense	probably damaging	0.99
R1547:Map3k12	UTSW	15	102,412,287 (GRCm39)	missense	probably damaging	1.00
R1880:Map3k12	UTSW	15	102,410,499 (GRCm39)	critical splice donor site	probably null
R2292:Map3k12	UTSW	15	102,408,574 (GRCm39)	missense	probably damaging	0.96
R4397:Map3k12	UTSW	15	102,409,694 (GRCm39)	missense	probably benign	0.44
R4406:Map3k12	UTSW	15	102,413,837 (GRCm39)	missense	probably damaging	1.00
R4407:Map3k12	UTSW	15	102,413,837 (GRCm39)	missense	probably damaging	1.00
R4408:Map3k12	UTSW	15	102,413,837 (GRCm39)	missense	probably damaging	1.00
R4731:Map3k12	UTSW	15	102,409,717 (GRCm39)	missense	probably benign	0.28
R5074:Map3k12	UTSW	15	102,410,267 (GRCm39)	critical splice donor site	probably null
R5605:Map3k12	UTSW	15	102,412,300 (GRCm39)	missense	probably benign	0.17
R5848:Map3k12	UTSW	15	102,412,670 (GRCm39)	missense	possibly damaging	0.66
R6232:Map3k12	UTSW	15	102,412,081 (GRCm39)	missense	probably damaging	0.99
R6901:Map3k12	UTSW	15	102,409,065 (GRCm39)	missense	possibly damaging	0.65
R6901:Map3k12	UTSW	15	102,409,064 (GRCm39)	missense	possibly damaging	0.95
R6946:Map3k12	UTSW	15	102,413,569 (GRCm39)	missense	possibly damaging	0.89
R7291:Map3k12	UTSW	15	102,410,601 (GRCm39)	missense	probably damaging	1.00
R7874:Map3k12	UTSW	15	102,409,077 (GRCm39)	missense	possibly damaging	0.91
R8331:Map3k12	UTSW	15	102,410,766 (GRCm39)	nonsense	probably null
R8460:Map3k12	UTSW	15	102,410,032 (GRCm39)	missense	probably damaging	1.00
R8784:Map3k12	UTSW	15	102,413,797 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- TGTTTTCTGCAGGCCAGTGC -3'
(R):5'- TACAGAGGTCATGCAGGTCTG -3'

Sequencing Primer
(F):5'- CAGCCTGTTCTCAGTTGTAAGTTAAG -3'
(R):5'- GGAGAGAACCCTTCCAAATGATGTTC -3'

Posted On

2014-06-23