Mutagenetix > Incidental Mutation

Incidental Mutation 'R2125:Map3k13'

229807

Institutional Source

Beutler Lab

Gene Symbol

Map3k13

Ensembl Gene

ENSMUSG00000033618

Gene Name

mitogen-activated protein kinase kinase kinase 13

Synonyms

MMRRC Submission

040128-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2125 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21794346-21933439 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21892144 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 59 (T59I)

Ref Sequence

ENSEMBL: ENSMUSP00000156202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042065] [ENSMUST00000231988] [ENSMUST00000232240]

AlphaFold

Q1HKZ5

Predicted Effect

probably benign
Transcript: ENSMUST00000042065
AA Change: T59I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000047388
Gene: ENSMUSG00000033618
AA Change: T59I

Domain	Start	End	E-Value	Type
low complexity region	7	18	N/A	INTRINSIC
low complexity region	119	137	N/A	INTRINSIC
Pfam:Pkinase	167	406	3.1e-60	PFAM
Pfam:Pkinase_Tyr	167	406	2.4e-65	PFAM
coiled coil region	456	502	N/A	INTRINSIC
low complexity region	578	599	N/A	INTRINSIC
low complexity region	632	649	N/A	INTRINSIC
low complexity region	805	821	N/A	INTRINSIC
low complexity region	833	843	N/A	INTRINSIC
low complexity region	932	945	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171547

Predicted Effect

probably benign
Transcript: ENSMUST00000231988
AA Change: T59I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000232240
AA Change: T59I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase contains a dual leucine-zipper motif, and has been shown to form dimers/oligomers through its leucine-zipper motif. This kinase can phosphorylate and activate MAPK8/JNK, MAP2K7/MKK7, which suggests a role in the JNK signaling pathway. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	T	7: 28,158,022	Y2265F	probably benign	Het
Aadac	A	G	3: 60,039,645	T255A	possibly damaging	Het
Abcb10	A	C	8: 123,965,092	V378G	probably benign	Het
Ackr2	C	T	9: 121,908,786	R76*	probably null	Het
Acly	T	C	11: 100,523,496	T35A	probably benign	Het
Acp7	A	C	7: 28,629,549	F69V	probably damaging	Het
Acsl3	T	A	1: 78,681,961	I110N	probably damaging	Het
Adam5	C	T	8: 24,815,118	V107M	probably damaging	Het
Adck2	T	C	6: 39,575,142	V281A	probably benign	Het
Adgrv1	A	G	13: 81,419,535	V5173A	probably benign	Het
Adgrv1	A	T	13: 81,419,950	S5035T	probably benign	Het
AI314180	T	C	4: 58,833,978	H834R	probably benign	Het
Arl10	T	A	13: 54,579,124		probably null	Het
B3gnt3	A	G	8: 71,693,358	W176R	probably damaging	Het
B4galt4	T	C	16: 38,765,938	I3T	probably damaging	Het
Casr	T	C	16: 36,495,252	I819V	possibly damaging	Het
Cdh1	T	C	8: 106,656,840	V237A	probably damaging	Het
Col22a1	G	A	15: 71,848,577	R605C	unknown	Het
Crlf3	A	G	11: 80,059,255	V183A	probably benign	Het
Crtac1	C	A	19: 42,323,732	V181L	probably damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dnah12	A	T	14: 26,724,458	R725*	probably null	Het
Dnhd1	A	T	7: 105,677,971	H709L	probably benign	Het
Dopey1	A	G	9: 86,521,046	Y1431C	probably damaging	Het
Eif2ak4	A	T	2: 118,422,123	H392L	probably benign	Het
Entpd3	T	C	9: 120,555,654	I99T	probably damaging	Het
Epha6	T	C	16: 59,682,688	D952G	probably damaging	Het
Exoc6	T	C	19: 37,590,941	L429P	probably damaging	Het
F13a1	A	G	13: 36,892,841	S625P	probably benign	Het
Fcho2	T	C	13: 98,775,898	N240S	possibly damaging	Het
Fcrl6	C	T	1: 172,599,248	V44M	probably benign	Het
Fmo6	A	T	1: 162,929,958	M82K	possibly damaging	Het
Gabrr2	T	G	4: 33,095,548	I479R	probably damaging	Het
Gm14409	C	A	2: 177,265,402	C101F	probably damaging	Het
Gnl2	T	A	4: 125,053,485	F633L	probably benign	Het
Greb1l	C	T	18: 10,511,422	S648F	probably damaging	Het
Gsap	T	A	5: 21,242,813	C290S	probably damaging	Het
Gusb	A	G	5: 129,999,447	V268A	probably benign	Het
H2-D1	G	A	17: 35,264,115		probably null	Het
Hebp2	T	A	10: 18,541,260	E164D	probably benign	Het
Higd1a	A	T	9: 121,850,247	I58N	probably damaging	Het
Hoxc13	G	T	15: 102,927,223	R262L	probably damaging	Het
Ifih1	A	G	2: 62,623,467	V218A	probably benign	Het
Impg2	T	A	16: 56,265,064	Y1045N	probably damaging	Het
Kcnk1	A	G	8: 125,995,656	E66G	probably damaging	Het
Klkb1	A	G	8: 45,275,504	V406A	possibly damaging	Het
Klra10	G	A	6: 130,279,278	R138W	probably damaging	Het
Lama2	A	C	10: 27,044,453	Y193*	probably null	Het
Larp7	T	C	3: 127,543,130	T428A	probably benign	Het
Lipg	T	C	18: 74,945,885	N432S	probably benign	Het
Loxl1	T	C	9: 58,293,712	D489G	probably damaging	Het
Lrguk	A	G	6: 34,092,902	K571E	probably benign	Het
Mertk	T	A	2: 128,762,138	D397E	probably benign	Het
Mgat3	G	A	15: 80,211,886	V305I	probably benign	Het
Mkl2	T	C	16: 13,400,804	V449A	possibly damaging	Het
Mybpc1	G	A	10: 88,573,437	Q66*	probably null	Het
Myo3a	A	G	2: 22,578,174	D480G	probably benign	Het
Ndufaf3	C	T	9: 108,566,737	R31Q	probably benign	Het
Neb	T	C	2: 52,310,638	Y343C	probably damaging	Het
Nrxn3	A	G	12: 89,260,520		probably null	Het
Olfr1090	A	T	2: 86,754,452	N95K	probably benign	Het
Olfr1257	A	G	2: 89,881,638	M271V	probably benign	Het
Pcsk4	T	C	10: 80,323,879	M379V	probably benign	Het
Pdzd2	A	T	15: 12,373,590	V2153E	probably benign	Het
Pkd2l1	T	C	19: 44,154,500	D427G	possibly damaging	Het
Plcd4	A	G	1: 74,565,152	Y763C	probably damaging	Het
Plekhh1	T	C	12: 79,079,000	F1270S	probably damaging	Het
Pmfbp1	T	C	8: 109,520,273	V259A	probably damaging	Het
Ptprg	T	C	14: 12,179,283	S767P	possibly damaging	Het
Rabl3	T	G	16: 37,556,813		probably null	Het
Rffl	T	A	11: 82,818,438	H53L	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rtl1	C	T	12: 109,593,921	V495I	possibly damaging	Het
Scaf11	A	T	15: 96,419,315	D789E	possibly damaging	Het
Scn2a	T	A	2: 65,752,079	Y1590*	probably null	Het
Siglech	T	A	7: 55,771,686	F190I	probably benign	Het
Slc22a22	C	A	15: 57,254,240	A302S	probably damaging	Het
Slc46a3	T	A	5: 147,879,144	T458S	probably benign	Het
Spta1	G	T	1: 174,208,344	R1072L	possibly damaging	Het
Tbx5	A	G	5: 119,836,923	T4A	probably benign	Het
Tdrd5	T	C	1: 156,276,573	R528G	probably damaging	Het
Tfip11	T	C	5: 112,335,663	V648A	possibly damaging	Het
Thumpd3	T	C	6: 113,066,788	V388A	probably benign	Het
Tmem131l	C	T	3: 83,942,751		probably null	Het
Ttf2	C	A	3: 100,948,193	Q895H	possibly damaging	Het
Ttn	A	T	2: 76,890,092		probably null	Het
Vmn2r13	A	G	5: 109,158,192	S507P	probably benign	Het
Vtn	A	G	11: 78,500,223	T210A	probably damaging	Het
Znhit2	A	G	19: 6,062,061	T279A	probably benign	Het

Other mutations in Map3k13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00977:Map3k13	APN	16	21921764	missense	probably benign	0.00
IGL01092:Map3k13	APN	16	21928016	missense	probably damaging	0.97
IGL01958:Map3k13	APN	16	21892123	missense	probably benign
IGL02444:Map3k13	APN	16	21914232	missense	probably benign	0.19
IGL02503:Map3k13	APN	16	21908704	missense	possibly damaging	0.50
IGL02712:Map3k13	APN	16	21905255	missense	probably damaging	0.99
IGL03342:Map3k13	APN	16	21892231	missense	possibly damaging	0.94
R0086:Map3k13	UTSW	16	21914225	missense	probably damaging	0.98
R0124:Map3k13	UTSW	16	21903756	missense	possibly damaging	0.95
R0281:Map3k13	UTSW	16	21914157	missense	probably damaging	1.00
R0308:Map3k13	UTSW	16	21891988	missense	probably benign
R0601:Map3k13	UTSW	16	21905249	missense	possibly damaging	0.95
R0669:Map3k13	UTSW	16	21906524	missense	probably benign	0.03
R0918:Map3k13	UTSW	16	21926240	missense	probably damaging	1.00
R1641:Map3k13	UTSW	16	21903792	missense	probably damaging	1.00
R1838:Map3k13	UTSW	16	21914189	missense	possibly damaging	0.92
R1891:Map3k13	UTSW	16	21911086	missense	probably damaging	1.00
R2332:Map3k13	UTSW	16	21898677	splice site	probably null
R2361:Map3k13	UTSW	16	21906536	missense	probably benign	0.05
R4395:Map3k13	UTSW	16	21898571	missense	possibly damaging	0.49
R4505:Map3k13	UTSW	16	21922178	missense	probably benign	0.00
R4506:Map3k13	UTSW	16	21922178	missense	probably benign	0.00
R4521:Map3k13	UTSW	16	21905775	missense	possibly damaging	0.94
R4753:Map3k13	UTSW	16	21892002	missense	probably benign
R4952:Map3k13	UTSW	16	21911019	missense	probably benign	0.15
R5035:Map3k13	UTSW	16	21921671	missense	probably benign	0.03
R5327:Map3k13	UTSW	16	21921647	missense	possibly damaging	0.89
R5784:Map3k13	UTSW	16	21898641	missense	possibly damaging	0.68
R5831:Map3k13	UTSW	16	21928048	makesense	probably null
R5996:Map3k13	UTSW	16	21905245	missense	possibly damaging	0.95
R6007:Map3k13	UTSW	16	21905183	missense	possibly damaging	0.95
R6546:Map3k13	UTSW	16	21921777	missense	probably benign	0.15
R6620:Map3k13	UTSW	16	21892311	missense	possibly damaging	0.62
R6683:Map3k13	UTSW	16	21892312	missense	probably benign	0.32
R6692:Map3k13	UTSW	16	21905237	missense	possibly damaging	0.66
R6695:Map3k13	UTSW	16	21922278	missense	probably benign	0.10
R6743:Map3k13	UTSW	16	21892423	missense	probably damaging	0.98
R6822:Map3k13	UTSW	16	21922263	missense	probably benign	0.00
R6965:Map3k13	UTSW	16	21922150	missense	probably benign
R7149:Map3k13	UTSW	16	21925437	missense	probably benign	0.04
R7174:Map3k13	UTSW	16	21926256	missense	probably damaging	1.00
R7256:Map3k13	UTSW	16	21892238	missense	probably benign	0.03
R7400:Map3k13	UTSW	16	21922322	missense	probably damaging	1.00
R7733:Map3k13	UTSW	16	21921686	missense	probably damaging	1.00
R7848:Map3k13	UTSW	16	21905871	missense	probably damaging	0.98
R7871:Map3k13	UTSW	16	21921596	missense	probably benign	0.09
R7876:Map3k13	UTSW	16	21922319	missense	probably benign	0.00
R8002:Map3k13	UTSW	16	21905128	missense	probably benign	0.05
R8089:Map3k13	UTSW	16	21903817	missense	possibly damaging	0.48
R8341:Map3k13	UTSW	16	21921584	nonsense	probably null
R8738:Map3k13	UTSW	16	21926258	missense	probably damaging	1.00
R8940:Map3k13	UTSW	16	21908704	missense	possibly damaging	0.50
R8949:Map3k13	UTSW	16	21905132	missense	probably benign	0.05
R9391:Map3k13	UTSW	16	21921915	missense	probably benign	0.00
R9749:Map3k13	UTSW	16	21921831	missense	probably benign	0.00
R9802:Map3k13	UTSW	16	21921768	missense	possibly damaging	0.85
Z1176:Map3k13	UTSW	16	21905162	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGACTGTCATCTCAGGACCTG -3'
(R):5'- CCTGCTGAACTGAATCTTGATGTC -3'

Sequencing Primer
(F):5'- TCATCTCAGGACCTGGGTCAC -3'
(R):5'- AACTGAATCTTGATGTCTTCTGGTC -3'

Posted On

2014-09-17