Mutagenetix > Incidental Mutation

Incidental Mutation 'R0308:Map3k13'

25001

Institutional Source

Beutler Lab

Gene Symbol

Map3k13

Ensembl Gene

ENSMUSG00000033618

Gene Name

mitogen-activated protein kinase kinase kinase 13

Synonyms

MMRRC Submission

038518-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0308 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21794346-21933439 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21891988 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 7 (H7R)

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: H7R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047388
Gene: ENSMUSG00000033618
AA Change: H7R

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: H7R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000232240
AA Change: H7R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0586

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.1%
20x: 89.5%

Validation Efficiency

100% (82/82)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,450,989	D65V	probably damaging	Het
4933407L21Rik	A	T	1: 85,931,286		probably benign	Het
Abcc12	C	T	8: 86,557,752		probably benign	Het
Adamts12	A	G	15: 11,311,560	E1301G	probably damaging	Het
Adh4	A	T	3: 138,424,102	N230Y	probably damaging	Het
Anapc15-ps	T	A	10: 95,673,092	M109L	probably benign	Het
Angpt2	T	C	8: 18,692,125	I472V	possibly damaging	Het
Arhgef26	C	A	3: 62,340,399	D301E	probably benign	Het
Armc10	G	A	5: 21,647,297		probably benign	Het
Arntl	A	T	7: 113,291,536	I179F	probably damaging	Het
Atm	T	C	9: 53,454,473		probably null	Het
Atp5b	T	C	10: 128,086,039	V265A	probably benign	Het
Atp8b1	G	T	18: 64,545,244	C860*	probably null	Het
Atrnl1	T	G	19: 57,753,288	S1160A	probably benign	Het
Cep55	A	G	19: 38,060,211	E105G	possibly damaging	Het
Cfap54	C	A	10: 92,885,364	D2502Y	unknown	Het
Cilp2	A	G	8: 69,882,993	S452P	probably benign	Het
Clptm1l	A	G	13: 73,611,667	D282G	possibly damaging	Het
Csrp1	C	A	1: 135,745,286	T47N	probably damaging	Het
Cyp2c40	T	A	19: 39,777,988	I388F	probably damaging	Het
Dars	C	T	1: 128,364,259	R494H	probably damaging	Het
Dna2	T	C	10: 62,956,974	V256A	probably damaging	Het
Dock7	T	C	4: 98,984,814	T1132A	probably benign	Het
Elk3	A	T	10: 93,265,205	M228K	probably benign	Het
Erich6	A	G	3: 58,636,104	F182L	probably damaging	Het
Fhad1	A	G	4: 141,985,593		probably benign	Het
Fryl	A	T	5: 73,041,604		probably benign	Het
Fzd9	A	T	5: 135,249,406	C542S	probably damaging	Het
Gba	A	G	3: 89,208,364	T460A	probably benign	Het
Gli2	C	T	1: 118,842,062	A587T	probably benign	Het
Gm10037	A	G	13: 67,843,113		probably benign	Het
Gm11011	C	T	2: 169,582,694		probably benign	Het
Gm17018	T	G	19: 45,577,006	F140V	probably damaging	Het
Gm9745	T	G	13: 8,940,841		probably benign	Het
Gmppb	A	G	9: 108,049,834	E68G	probably benign	Het
Gpld1	A	G	13: 24,962,835	N260S	possibly damaging	Het
Hipk3	G	A	2: 104,433,207	S900L	probably damaging	Het
Ints6l	A	T	X: 56,481,355	M215L	possibly damaging	Het
Irx6	T	A	8: 92,677,031	L128Q	probably damaging	Het
Itga10	T	C	3: 96,651,464	S373P	probably damaging	Het
Jak1	T	C	4: 101,154,535		probably null	Het
Jak2	C	T	19: 29,311,757	T1103I	probably benign	Het
Katnal1	A	T	5: 148,878,924	V401D	possibly damaging	Het
Lrp2	T	A	2: 69,482,982		probably benign	Het
Mrgprx3-ps	A	G	7: 47,310,018	V75A	probably benign	Het
Nol6	C	T	4: 41,123,584	A55T	probably benign	Het
Olfr881	A	G	9: 37,992,845	I118V	probably benign	Het
Opa1	G	A	16: 29,621,531	R818Q	probably damaging	Het
Opn4	T	C	14: 34,597,124	Y168C	possibly damaging	Het
Phf21a	T	C	2: 92,330,777	V330A	possibly damaging	Het
Phykpl	A	G	11: 51,593,596		probably benign	Het
Plcb1	T	G	2: 134,813,614	V38G	probably benign	Het
Plxna4	T	A	6: 32,237,768	T593S	probably benign	Het
Poll	A	T	19: 45,555,965	I339N	probably damaging	Het
Rev3l	A	G	10: 39,824,894	I1796V	probably benign	Het
Rnf103	G	A	6: 71,509,702	R439H	probably damaging	Het
Rrn3	G	A	16: 13,799,882		probably benign	Het
Sec14l4	G	A	11: 4,041,726		probably benign	Het
Sec23a	A	C	12: 59,007,199	Y4*	probably null	Het
Senp6	T	C	9: 80,132,983		probably null	Het
Serpinb6b	A	T	13: 32,978,237	N221Y	probably benign	Het
Slc6a2	A	G	8: 92,961,360	E38G	possibly damaging	Het
Smap1	A	T	1: 23,849,342	L196I	probably damaging	Het
Sorbs2	C	T	8: 45,795,130	Q473*	probably null	Het
Sphkap	C	A	1: 83,276,969	V1020F	probably damaging	Het
Srfbp1	T	C	18: 52,488,542	V225A	probably benign	Het
Srprb	G	A	9: 103,202,005	P728S	possibly damaging	Het
Tarm1	T	C	7: 3,496,671		probably benign	Het
Tcp1	T	A	17: 12,920,419	I162N	probably benign	Het
Tmem237	C	A	1: 59,107,517	A292S	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tnpo1	A	G	13: 98,846,503	F884L	probably damaging	Het
Trim7	A	G	11: 48,849,501	T142A	probably damaging	Het
Ttn	T	A	2: 76,785,680	I14894F	probably damaging	Het
Tubgcp6	T	C	15: 89,122,436	R128G	possibly damaging	Het
Ube2d2b	A	G	5: 107,830,908	T142A	possibly damaging	Het
Unc13c	G	T	9: 73,481,118	L2129I	probably benign	Het
Ushbp1	T	C	8: 71,391,053	D247G	probably damaging	Het
Usp43	G	A	11: 67,880,140	A556V	probably damaging	Het
Zfp438	T	A	18: 5,213,638	H440L	probably benign	Het
Zfp518b	C	T	5: 38,672,770	E631K	possibly 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
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
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'- TGTAGGTACTAAGGAAAGAGTGGCCTC -3'
(R):5'- CCTGACCTGCTGAACTGAATCTTGATG -3'

Sequencing Primer
(F):5'- AAAGAGTGGCCTCATGGTCTC -3'
(R):5'- ACACTGGTCAACACTGTTGTG -3'

Posted On

2013-04-16