Mutagenetix > Incidental Mutation

Incidental Mutation 'R4009:Mapkbp1'

311588

Institutional Source

Beutler Lab

Gene Symbol

Mapkbp1

Ensembl Gene

ENSMUSG00000033902

Gene Name

mitogen-activated protein kinase binding protein 1

Synonyms

2810483F24Rik, Jnkbp1

MMRRC Submission

040846-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4009 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119972699-120027408 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120023605 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1222 (S1222P)

Ref Sequence

ENSEMBL: ENSMUSP00000068516 (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: S1222P

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

SMART Domains

Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: S1222P

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: S1228P

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 110,090,107	L35Q	probably damaging	Het
Acss2	T	A	2: 155,557,628	L529Q	probably damaging	Het
Apc2	T	A	10: 80,313,592	D1464E	probably benign	Het
Atp8a2	A	G	14: 60,027,985	S301P	possibly damaging	Het
Cntln	A	G	4: 85,063,215	T877A	probably benign	Het
Cntn6	T	C	6: 104,833,822	I537T	probably damaging	Het
Cyp2d12	T	G	15: 82,556,292	L94R	probably damaging	Het
Dnah7a	A	G	1: 53,525,005	L1965P	probably damaging	Het
Dock10	T	C	1: 80,532,431	N1560S	probably damaging	Het
F830045P16Rik	A	T	2: 129,463,547	N302K	probably damaging	Het
Fxr1	G	T	3: 34,065,022	R580L	probably benign	Het
Gm5592	G	T	7: 41,289,510	V739L	probably benign	Het
Gna13	A	G	11: 109,396,017	D222G	probably damaging	Het
Grm7	T	A	6: 111,495,722	Y841N	probably damaging	Het
Kat2b	G	A	17: 53,644,741		probably null	Het
Kcng4	A	G	8: 119,626,085	V362A	probably damaging	Het
Kcnh1	T	A	1: 192,277,140	I334N	probably benign	Het
Olfr1122	A	T	2: 87,388,580	I292F	possibly damaging	Het
Olfr192	G	A	16: 59,098,761	T77I	unknown	Het
Olfr512	A	T	7: 108,714,159	I269L	probably benign	Het
Olfr742	T	C	14: 50,515,962	S253P	possibly damaging	Het
Pik3cb	A	G	9: 99,040,929	Y1017H	probably damaging	Het
Plpp5	A	G	8: 25,720,311	E36G	probably damaging	Het
Pnmal1	A	T	7: 16,961,376	K385N	probably damaging	Het
Ptprd	T	G	4: 75,956,397	M1272L	possibly damaging	Het
Rad51ap2	A	G	12: 11,457,051	I325V	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Skint4	T	C	4: 112,120,109	V232A	possibly damaging	Het
Slc30a5	G	A	13: 100,809,233	A537V	probably damaging	Het
Tcerg1	CAATTGAAAA	CAA	18: 42,564,136		probably null	Het
Tenm3	C	A	8: 48,349,223	K162N	probably damaging	Het
Vmn2r44	T	A	7: 8,377,988	Q302L	possibly damaging	Het
Zfp618	G	A	4: 63,133,564	A861T	probably benign	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
R2423:Mapkbp1	UTSW	2	120024590	missense	probably benign	0.00
R3976:Mapkbp1	UTSW	2	120021858	missense	possibly damaging	0.94
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
R9587:Mapkbp1	UTSW	2	120016796	missense	possibly damaging	0.80
R9685:Mapkbp1	UTSW	2	120021183	missense	probably benign	0.35
R9803:Mapkbp1	UTSW	2	120010775	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- TGTCACCATGCTTGCCACTG -3'
(R):5'- TTGGGGATGTCCAGGACAAG -3'

Sequencing Primer
(F):5'- ACTGCATGTCCCTTAGTGATTACAC -3'
(R):5'- ACAAGGTGAGCCCTGCTAG -3'

Posted On

2015-04-29