Mutagenetix > Incidental Mutation

Incidental Mutation 'R8341:Map3k13'

644916

Institutional Source

Beutler Lab

Gene Symbol

Map3k13

Ensembl Gene

ENSMUSG00000033618

Gene Name

mitogen-activated protein kinase kinase kinase 13

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8341 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21794346-21933439 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 21921584 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 554 (E554*)

Ref Sequence

ENSEMBL: ENSMUSP00000047388 (fasta)

Gene Model

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

AlphaFold

Q1HKZ5

Predicted Effect

probably null
Transcript: ENSMUST00000042065
AA Change: E554*

SMART Domains

Protein: ENSMUSP00000047388
Gene: ENSMUSG00000033618
AA Change: E554*

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

probably null
Transcript: ENSMUST00000231988
AA Change: E554*

Predicted Effect

probably null
Transcript: ENSMUST00000232240
AA Change: E554*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932429P05Rik	A	T	X: 89,754,716	K718M	probably damaging	Het
Abca8b	T	A	11: 109,955,050	I915F	probably damaging	Het
Adam11	C	A	11: 102,776,536	H641N	probably damaging	Het
Amfr	A	G	8: 93,999,178	S192P	probably damaging	Het
Ano9	T	A	7: 141,102,334	N676I	possibly damaging	Het
Arfgef1	C	T	1: 10,154,328	V1428I	probably benign	Het
B3gnt9	C	T	8: 105,253,865	R297H	probably benign	Het
Bace2	C	T	16: 97,356,908	A36V	possibly damaging	Het
C1s1	C	T	6: 124,531,156	A625T	probably damaging	Het
Camkmt	T	C	17: 85,439,580	L251P	probably damaging	Het
Ceacam15	C	A	7: 16,672,003	V208F	probably benign	Het
Clp1	T	C	2: 84,723,773	K351E	probably damaging	Het
Csmd3	T	C	15: 47,698,151	Y1343C		Het
Cubn	C	A	2: 13,428,724	G1125V	probably damaging	Het
Dpp4	C	T	2: 62,347,890	V633I	probably benign	Het
Eif2ak1	A	T	5: 143,884,937	D357V	probably benign	Het
Fez1	T	C	9: 36,876,309	M370T	possibly damaging	Het
Frk	G	A	10: 34,586,283	E257K	probably damaging	Het
Gm7579	T	A	7: 142,212,119	C87*	probably null	Het
Henmt1	T	C	3: 108,958,592	V211A	probably damaging	Het
Hspg2	C	G	4: 137,518,979	P1023A	possibly damaging	Het
Ints9	T	A	14: 65,036,414	V556E	probably benign	Het
Klhl41	T	C	2: 69,670,524	S110P	probably benign	Het
Klrk1	T	C	6: 129,622,700		probably benign	Het
Kmt2e	A	T	5: 23,499,453	S1215C	probably damaging	Het
Lyn	T	C	4: 3,743,304		probably null	Het
Map2k5	T	A	9: 63,339,098	N116Y	probably damaging	Het
Map6	A	G	7: 99,268,440	E140G	possibly damaging	Het
Mpv17	A	C	5: 31,154,103		probably null	Het
Myo1c	C	T	11: 75,671,427	P883S	probably benign	Het
Myo7b	T	C	18: 31,983,926	M914V	probably benign	Het
Olfm2	C	T	9: 20,672,622		probably null	Het
Olfr124	G	A	17: 37,805,652	C169Y	probably damaging	Het
Osbpl7	T	G	11: 97,060,163	L612R	probably damaging	Het
Polq	A	T	16: 37,071,771	M2012L	possibly damaging	Het
Ppp1r7	G	A	1: 93,346,278	D59N	probably benign	Het
Ptbp1	A	C	10: 79,863,211	E534D	probably benign	Het
Qser1	A	G	2: 104,789,475	Y241H	probably damaging	Het
Rbx1	T	C	15: 81,473,877	L88P	probably damaging	Het
Rft1	T	C	14: 30,689,881	L462P	probably damaging	Het
Serpinb9f	T	A	13: 33,327,307	L77*	probably null	Het
Shisa9	T	C	16: 11,997,151	M221T	possibly damaging	Het
Slc12a2	T	G	18: 57,879,209	F135V	possibly damaging	Het
Slc23a1	C	T	18: 35,622,535	G436E	probably damaging	Het
Slc44a2	T	C	9: 21,342,199	F88L	probably benign	Het
Snx21	A	G	2: 164,791,885	E197G	probably damaging	Het
Srarp	T	C	4: 141,433,396	D42G	possibly damaging	Het
Ssfa2	A	T	2: 79,657,718	K715I	probably damaging	Het
St6galnac1	T	A	11: 116,768,888	M200L	probably benign	Het
Stambpl1	A	T	19: 34,234,001	Q154L	probably benign	Het
Szt2	G	T	4: 118,392,836	R492S	possibly damaging	Het
Thbs3	G	A	3: 89,225,391	R880Q	probably benign	Het
Tnks	A	T	8: 34,873,045	L473H	probably damaging	Het
Ttc4	A	G	4: 106,665,696	S342P	probably benign	Het
Uckl1	T	A	2: 181,569,719	M463L	probably benign	Het
Unc80	T	C	1: 66,649,033	S2397P	possibly damaging	Het
Vmn2r73	T	A	7: 85,857,920	H728L	probably benign	Het
Vsig10l	T	C	7: 43,463,954	V110A	probably damaging	Het
Zgrf1	T	A	3: 127,560,915	L61*	probably null	Het
Zswim5	A	G	4: 116,986,792	Y1009C	probably damaging	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
R2125:Map3k13	UTSW	16	21892144	missense	probably benign	0.01
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
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'- TCTGAGTGCTGACTGAAAGAG -3'
(R):5'- ATGGACTGAAGCGCACTGAG -3'

Sequencing Primer
(F):5'- GAAGCCTGATAGCTCCAGGATTC -3'
(R):5'- TGAAGCGCACTGAGCCTGAG -3'

Posted On

2020-09-02