Mutagenetix > Incidental Mutation

Incidental Mutation 'R7291:Map3k12'

566446

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

045322-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7291 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102406079-102425311 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102410601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 459 (R459W)

Ref Sequence

ENSEMBL: ENSMUSP00000023812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023812] [ENSMUST00000077037] [ENSMUST00000078404] [ENSMUST00000096145] [ENSMUST00000108838] [ENSMUST00000165174] [ENSMUST00000169162] [ENSMUST00000169367] [ENSMUST00000169377] [ENSMUST00000171565] [ENSMUST00000229061] [ENSMUST00000229184] [ENSMUST00000229618] [ENSMUST00000229802] [ENSMUST00000229854] [ENSMUST00000229918] [ENSMUST00000230114] [ENSMUST00000231085]

AlphaFold

Q60700

Predicted Effect

probably damaging
Transcript: ENSMUST00000023812
AA Change: R459W

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

SMART Domains

Protein: ENSMUSP00000023812
Gene: ENSMUSG00000023050
AA Change: R459W

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

probably benign
Transcript: ENSMUST00000165174

Predicted Effect

probably benign
Transcript: ENSMUST00000169162

Predicted Effect

probably benign
Transcript: ENSMUST00000169367

Predicted Effect

probably damaging
Transcript: ENSMUST00000169377
AA Change: R459W

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

SMART Domains

Protein: ENSMUSP00000133209
Gene: ENSMUSG00000023050
AA Change: R459W

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: R459W

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

SMART Domains

Protein: ENSMUSP00000127629
Gene: ENSMUSG00000023050
AA Change: R459W

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: ENSMUST00000229061

Predicted Effect

probably benign
Transcript: ENSMUST00000229184

Predicted Effect

probably benign
Transcript: ENSMUST00000229432

Predicted Effect

probably benign
Transcript: ENSMUST00000229618

Predicted Effect

probably benign
Transcript: ENSMUST00000229802

Predicted Effect

probably benign
Transcript: ENSMUST00000229854

Predicted Effect

probably benign
Transcript: ENSMUST00000229918

Predicted Effect

probably benign
Transcript: ENSMUST00000230114

Predicted Effect

probably benign
Transcript: ENSMUST00000231085

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430069I07Rik	T	C	15: 34,355,699 (GRCm39)	E51G	possibly damaging	Het
Abca14	C	A	7: 119,888,832 (GRCm39)	C1259*	probably null	Het
Ablim1	T	C	19: 57,204,340 (GRCm39)	E17G	probably benign	Het
Acsf3	G	A	8: 123,540,316 (GRCm39)	V505I	probably benign	Het
Actn1	T	C	12: 80,220,859 (GRCm39)	M650V	probably benign	Het
Adamts4	G	A	1: 171,084,097 (GRCm39)	V525I	probably benign	Het
Adh1	T	C	3: 137,988,569 (GRCm39)	Y181H	probably damaging	Het
Alpl	G	A	4: 137,480,009 (GRCm39)	R168W	probably damaging	Het
Ate1	T	G	7: 130,121,661 (GRCm39)	K11Q	probably benign	Het
Atpaf1	T	A	4: 115,668,288 (GRCm39)	F314L	probably damaging	Het
Baiap3	T	A	17: 25,463,291 (GRCm39)	D1004V	probably damaging	Het
Bpifb9a	C	T	2: 154,109,616 (GRCm39)	T504M	probably damaging	Het
C1s2	T	A	6: 124,602,343 (GRCm39)	I623F	probably benign	Het
Card11	T	C	5: 140,886,825 (GRCm39)	D308G	probably damaging	Het
Cul9	C	T	17: 46,851,359 (GRCm39)	V354I	probably benign	Het
Dnah1	A	T	14: 31,020,662 (GRCm39)	F1236I	probably damaging	Het
Dync2h1	T	A	9: 6,929,590 (GRCm39)	I4266F	possibly damaging	Het
Ear10	A	T	14: 44,160,377 (GRCm39)	V150D	probably damaging	Het
Elfn2	C	T	15: 78,557,183 (GRCm39)	A455T	probably benign	Het
Erp44	A	G	4: 48,208,792 (GRCm39)	Y223H	probably damaging	Het
Fam110b	T	A	4: 5,798,895 (GRCm39)	H104Q	probably benign	Het
Fcgbp	A	G	7: 27,800,817 (GRCm39)	N1288D	probably benign	Het
Fcgbpl1	A	C	7: 27,839,645 (GRCm39)	D486A	probably benign	Het
Fcrl1	T	C	3: 87,293,088 (GRCm39)		probably null	Het
Fmo2	G	T	1: 162,715,271 (GRCm39)	P117Q	probably benign	Het
Fsip2	A	G	2: 82,810,863 (GRCm39)	K2394R	possibly damaging	Het
Gab1	T	G	8: 81,526,780 (GRCm39)	K106T	probably damaging	Het
Gatad2b	T	C	3: 90,258,721 (GRCm39)	V248A	probably damaging	Het
Gemin6	T	C	17: 80,535,204 (GRCm39)	S55P	possibly damaging	Het
Gfm2	G	A	13: 97,311,532 (GRCm39)	V701I	probably benign	Het
Gm3250	T	C	10: 77,618,061 (GRCm39)	T106A	unknown	Het
Gm7356	T	C	17: 14,221,843 (GRCm39)	N62S	probably benign	Het
Gsdmc4	T	C	15: 63,774,689 (GRCm39)	T31A	possibly damaging	Het
H2-M10.1	T	A	17: 36,636,621 (GRCm39)	D61V	probably damaging	Het
Heatr5a	A	G	12: 51,972,122 (GRCm39)	L716S	probably damaging	Het
Hecw2	A	G	1: 53,953,753 (GRCm39)	Y831H	probably damaging	Het
Ifi202b	C	T	1: 173,802,381 (GRCm39)	S151N	probably benign	Het
Il15ra	C	T	2: 11,723,192 (GRCm39)	T72I	probably damaging	Het
Ints1	A	G	5: 139,750,829 (GRCm39)	L858P	probably damaging	Het
Kat2a	C	T	11: 100,601,726 (GRCm39)	V230I	possibly damaging	Het
Kcnq2	A	T	2: 180,730,172 (GRCm39)	I498N	possibly damaging	Het
Kif26b	C	T	1: 178,506,611 (GRCm39)	T229I	possibly damaging	Het
Ly75	T	A	2: 60,160,337 (GRCm39)	I957F	probably damaging	Het
Mia2	T	A	12: 59,205,155 (GRCm39)		probably null	Het
Mrgprf	A	G	7: 144,861,206 (GRCm39)	I53V	unknown	Het
Mttp	A	G	3: 137,796,964 (GRCm39)	L846P	probably damaging	Het
Myrip	C	T	9: 120,246,207 (GRCm39)	L112F	probably damaging	Het
Nav1	A	G	1: 135,393,597 (GRCm39)	F1047S	probably damaging	Het
Nfkbib	T	C	7: 28,458,628 (GRCm39)	D327G	possibly damaging	Het
Notch1	C	T	2: 26,366,387 (GRCm39)	V776I	probably benign	Het
Obsl1	G	T	1: 75,466,161 (GRCm39)	D1522E	probably damaging	Het
Or52s6	T	A	7: 103,091,995 (GRCm39)	M112L	probably benign	Het
Or5b110-ps1	A	T	19: 13,259,517 (GRCm39)	F302I	unknown	Het
Or7e168	T	C	9: 19,719,944 (GRCm39)	M110T	possibly damaging	Het
Or9r3	T	C	10: 129,948,093 (GRCm39)	K189E	probably benign	Het
Pde7a	T	C	3: 19,281,838 (GRCm39)	N471D	probably benign	Het
Pla2r1	T	C	2: 60,360,779 (GRCm39)	H203R	probably benign	Het
Plch2	C	A	4: 155,082,929 (GRCm39)	C573F	probably damaging	Het
Polr1a	G	A	6: 71,918,440 (GRCm39)	R666Q	probably benign	Het
Prepl	T	C	17: 85,388,668 (GRCm39)	N145S	probably benign	Het
Psen2	C	T	1: 180,066,521 (GRCm39)	V139M	probably benign	Het
Ptgdr	A	T	14: 45,096,649 (GRCm39)	M21K	possibly damaging	Het
Rapgef6	T	C	11: 54,582,065 (GRCm39)	W1331R	probably benign	Het
Rp1l1	G	A	14: 64,269,747 (GRCm39)	G1778S	probably benign	Het
Rrbp1	A	T	2: 143,811,382 (GRCm39)	M824K	probably benign	Het
Sel1l	T	C	12: 91,815,739 (GRCm39)	T23A	probably benign	Het
Sele	A	G	1: 163,881,437 (GRCm39)	S515G	possibly damaging	Het
Slc22a23	T	C	13: 34,381,822 (GRCm39)	N421D	probably damaging	Het
Slc35f3	T	G	8: 127,121,297 (GRCm39)	L386R	probably benign	Het
Stab2	G	A	10: 86,782,084 (GRCm39)	S699L	probably damaging	Het
Synrg	A	T	11: 83,900,207 (GRCm39)	L726F	probably damaging	Het
Syt3	G	A	7: 44,045,343 (GRCm39)	V528M	probably damaging	Het
Szt2	A	G	4: 118,248,446 (GRCm39)	I655T	probably damaging	Het
Tbr1	T	C	2: 61,642,600 (GRCm39)	S622P	probably damaging	Het
Tex36	C	T	7: 133,188,952 (GRCm39)	G207S	probably benign	Het
Trav5n-4	G	A	14: 53,550,399 (GRCm39)	W13*	probably null	Het
Trdn	A	T	10: 33,313,732 (GRCm39)	E500V	probably null	Het
Ugt2b38	A	T	5: 87,559,754 (GRCm39)	N379K	probably damaging	Het
Unc13d	T	C	11: 115,964,876 (GRCm39)	R248G	possibly damaging	Het
Vmn1r195	C	T	13: 22,462,919 (GRCm39)	L130F	probably damaging	Het
Vmn2r110	T	C	17: 20,794,471 (GRCm39)	I733V	probably benign	Het
Zfp870	T	A	17: 33,102,828 (GRCm39)	N167I	probably damaging	Het
Zmynd10	A	T	9: 107,426,503 (GRCm39)	M179L	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
R1844:Map3k12	UTSW	15	102,411,970 (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
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'- ACCGCCTTTCTAAAGCCTGC -3'
(R):5'- AGTCAGAAGGGACCTGTCTG -3'

Sequencing Primer
(F):5'- CTAAAGCCTGCTCTCGCC -3'
(R):5'- TGTCTGCACCGCCTAGAAGAG -3'

Posted On

2019-06-26