Mutagenetix > Incidental Mutations

Incidental Mutation 'R2423:Mapkbp1'

249425

Institutional Source

Beutler Lab

Gene Symbol

Mapkbp1

Ensembl Gene

ENSMUSG00000033902

Gene Name

mitogen-activated protein kinase binding protein 1

Synonyms

2810483F24Rik, Jnkbp1

MMRRC Submission

040385-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2423 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119972699-120027408 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120024590 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1430 (E1430V)

Ref Sequence

ENSEMBL: ENSMUSP00000155163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044675] [ENSMUST00000066058] [ENSMUST00000129679] [ENSMUST00000129685] [ENSMUST00000135365] [ENSMUST00000156805] [ENSMUST00000162393] [ENSMUST00000229024]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044675

SMART Domains

Protein: ENSMUSP00000041220
Gene: ENSMUSG00000098789

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
JmjC	128	307	4.31e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000066058
AA Change: E1424V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: E1424V

Domain	Start	End	E-Value	Type
WD40	80	121	8.75e-5	SMART
WD40	124	165	3.64e-2	SMART
WD40	168	205	4.62e-1	SMART
low complexity region	220	234	N/A	INTRINSIC
WD40	264	301	2.65e1	SMART
WD40	332	367	1.99e0	SMART
WD40	374	422	1.29e-2	SMART
WD40	463	502	3.9e-2	SMART
WD40	505	547	2.77e-1	SMART
WD40	551	592	2.67e-1	SMART
WD40	599	639	2.21e1	SMART
WD40	642	684	5.75e-1	SMART
WD40	687	726	6.04e-8	SMART
low complexity region	736	747	N/A	INTRINSIC
low complexity region	779	795	N/A	INTRINSIC
low complexity region	1028	1054	N/A	INTRINSIC
coiled coil region	1400	1427	N/A	INTRINSIC
low complexity region	1460	1477	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129679

Predicted Effect

probably benign
Transcript: ENSMUST00000129685

SMART Domains

Protein: ENSMUSP00000115498
Gene: ENSMUSG00000033852

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
JmjC	128	308	1.65e-4	SMART
C2	242	342	1.79e-17	SMART
PLAc	456	1012	1.99e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130176

Predicted Effect

probably benign
Transcript: ENSMUST00000135365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139862

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148161

Predicted Effect

probably benign
Transcript: ENSMUST00000156805

SMART Domains

Protein: ENSMUSP00000117535
Gene: ENSMUSG00000033852

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
JmjC	128	308	1.65e-4	SMART
C2	242	342	1.79e-17	SMART
PLAc	456	892	8.56e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162393

SMART Domains

Protein: ENSMUSP00000125329
Gene: ENSMUSG00000033852

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
JmjC	128	242	4.42e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229024
AA Change: E1430V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amer2	T	C	14: 60,379,207	S284P	possibly damaging	Het
Ap5z1	T	C	5: 142,476,777	V614A	probably benign	Het
Arhgap9	A	T	10: 127,327,124		probably null	Het
Brf1	G	A	12: 113,000,199	A53V	probably benign	Het
Cyp1a2	C	T	9: 57,679,949	R353Q	probably damaging	Het
Deup1	G	T	9: 15,592,458	S269*	probably null	Het
F11r	T	A	1: 171,461,623	Y218N	possibly damaging	Het
Gjd4	G	T	18: 9,280,811	S89*	probably null	Het
Mga	A	G	2: 119,964,793	K2986R	probably damaging	Het
Myo9b	G	T	8: 71,327,940	V494L	probably damaging	Het
Nbea	G	A	3: 56,085,306	T293I	probably damaging	Het
Neto2	C	T	8: 85,669,767	R83Q	probably damaging	Het
Ocm	A	T	5: 144,024,570		probably null	Het
Olfr619	C	T	7: 103,604,034	R127C	probably benign	Het
Pcdha11	T	C	18: 37,007,424	I702T	possibly damaging	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Rbbp8nl	A	T	2: 180,280,971	S210T	probably damaging	Het
Rbl2	A	T	8: 91,087,146	I340F	probably benign	Het
Rft1	T	C	14: 30,666,767	L216P	possibly damaging	Het
Slc26a10	T	A	10: 127,179,737		probably null	Het
Slc34a1	G	A	13: 55,409,052	A235T	possibly damaging	Het
Spag17	A	G	3: 100,103,456	T2089A	probably benign	Het
Srek1	G	C	13: 103,753,028	S260*	probably null	Het
Sspo	T	C	6: 48,454,055	V624A	probably benign	Het
Tapt1	T	C	5: 44,192,453	I251V	probably benign	Het
Tmem248	T	C	5: 130,229,562	I32T	probably damaging	Het
Tnk1	T	G	11: 69,855,761	T209P	probably damaging	Het
Trip12	TATACATACATACATACATACATACATACATAC	TATACATACATACATACATACATACATACATACATAC	1: 84,814,790		probably null	Het
Trp53tg5	T	A	2: 164,471,330	R142*	probably null	Het
Upf1	C	T	8: 70,338,460	R544H	probably damaging	Het
Vldlr	C	T	19: 27,236,288	T125I	possibly damaging	Het
Vps8	A	G	16: 21,559,337	T1033A	probably benign	Het
Wiz	A	C	17: 32,361,885	H197Q	probably damaging	Het

Other mutations in Mapkbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01102:Mapkbp1	APN	2	120021858	missense	possibly damaging	0.94
IGL01309:Mapkbp1	APN	2	120018942	missense	probably damaging	1.00
IGL01728:Mapkbp1	APN	2	120023821	missense	probably damaging	1.00
IGL01808:Mapkbp1	APN	2	120023169	splice site	probably null
IGL02185:Mapkbp1	APN	2	120014663	missense	possibly damaging	0.58
IGL02421:Mapkbp1	APN	2	120019655	missense	possibly damaging	0.95
IGL02691:Mapkbp1	APN	2	119973174	splice site	probably benign
IGL03146:Mapkbp1	APN	2	119998474	splice site	probably benign
IGL03387:Mapkbp1	APN	2	119998498	missense	probably damaging	0.99
IGL03054:Mapkbp1	UTSW	2	120015400	missense	probably damaging	0.97
R0118:Mapkbp1	UTSW	2	120025215	missense	probably benign	0.00
R0393:Mapkbp1	UTSW	2	120012903	splice site	probably null
R0463:Mapkbp1	UTSW	2	120023151	missense	probably benign	0.01
R0788:Mapkbp1	UTSW	2	120024001	missense	probably benign	0.02
R0928:Mapkbp1	UTSW	2	120015368	missense	probably benign	0.00
R1104:Mapkbp1	UTSW	2	120011073	splice site	probably benign
R1162:Mapkbp1	UTSW	2	120025318	missense	possibly damaging	0.87
R1219:Mapkbp1	UTSW	2	120019350	nonsense	probably null
R1299:Mapkbp1	UTSW	2	120015404	missense	probably damaging	1.00
R1300:Mapkbp1	UTSW	2	120013655	missense	probably benign	0.25
R1342:Mapkbp1	UTSW	2	119998534	missense	possibly damaging	0.95
R1456:Mapkbp1	UTSW	2	119973145	missense	probably damaging	1.00
R1464:Mapkbp1	UTSW	2	120021261	missense	probably benign
R1464:Mapkbp1	UTSW	2	120021261	missense	probably benign
R1470:Mapkbp1	UTSW	2	120017820	missense	probably damaging	1.00
R1470:Mapkbp1	UTSW	2	120017820	missense	probably damaging	1.00
R1660:Mapkbp1	UTSW	2	120018548	missense	possibly damaging	0.83
R2008:Mapkbp1	UTSW	2	120012665	missense	probably damaging	1.00
R2083:Mapkbp1	UTSW	2	120015482	missense	possibly damaging	0.96
R2371:Mapkbp1	UTSW	2	120010780	missense	probably damaging	1.00
R3976:Mapkbp1	UTSW	2	120021858	missense	possibly damaging	0.94
R4009:Mapkbp1	UTSW	2	120023605	missense	probably benign	0.00
R4183:Mapkbp1	UTSW	2	120017865	missense	probably damaging	1.00
R4246:Mapkbp1	UTSW	2	120013027	missense	probably damaging	1.00
R4503:Mapkbp1	UTSW	2	120015706	missense	probably damaging	1.00
R4513:Mapkbp1	UTSW	2	120023693	missense	possibly damaging	0.63
R4517:Mapkbp1	UTSW	2	120025064	intron	probably benign
R4742:Mapkbp1	UTSW	2	120016818	missense	probably damaging	1.00
R5049:Mapkbp1	UTSW	2	120015501	splice site	probably benign
R5079:Mapkbp1	UTSW	2	120013733	missense	probably damaging	0.99
R5137:Mapkbp1	UTSW	2	120022181	missense	probably damaging	1.00
R5255:Mapkbp1	UTSW	2	120017254	missense	probably damaging	1.00
R5530:Mapkbp1	UTSW	2	120015355	missense	probably benign
R5546:Mapkbp1	UTSW	2	120019243	missense	probably damaging	1.00
R5634:Mapkbp1	UTSW	2	119973095	missense	probably damaging	1.00
R5696:Mapkbp1	UTSW	2	120021720	splice site	probably null
R5891:Mapkbp1	UTSW	2	120023932	nonsense	probably null
R6263:Mapkbp1	UTSW	2	120023291	missense	probably damaging	1.00
R6807:Mapkbp1	UTSW	2	120021159	missense	probably damaging	0.99
R6890:Mapkbp1	UTSW	2	120015802	missense	probably damaging	1.00
R7159:Mapkbp1	UTSW	2	120025132	missense	possibly damaging	0.72
R7467:Mapkbp1	UTSW	2	120022188	missense	probably damaging	1.00
R7536:Mapkbp1	UTSW	2	120018585	missense	probably damaging	1.00
R7564:Mapkbp1	UTSW	2	120013751	missense	probably benign	0.09
R7801:Mapkbp1	UTSW	2	120012073	missense	probably damaging	1.00
R7886:Mapkbp1	UTSW	2	120012647	missense	possibly damaging	0.90
R8095:Mapkbp1	UTSW	2	120017650	missense	probably benign	0.11
R8421:Mapkbp1	UTSW	2	120018950	missense	probably damaging	0.99
R8548:Mapkbp1	UTSW	2	120024091	missense	probably benign	0.33
R8856:Mapkbp1	UTSW	2	120014628	missense	probably damaging	1.00
R8971:Mapkbp1	UTSW	2	120019569	missense	probably benign
R9007:Mapkbp1	UTSW	2	120019662	missense	probably damaging	0.99
R9251:Mapkbp1	UTSW	2	120023190	missense	probably benign	0.00
R9255:Mapkbp1	UTSW	2	120013075	missense	probably damaging	1.00
R9361:Mapkbp1	UTSW	2	120014771	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACAAGAGGCCAGGATTGTCG -3'
(R):5'- ACAGCCATGAATTGGGATTTTCTTG -3'

Sequencing Primer
(F):5'- CGGCTGGTAGGGATTATAGCTC -3'
(R):5'- AATATGGTGTTCTACGCTACGACC -3'

Posted On

2014-11-12