Mutagenetix > Incidental Mutation

Incidental Mutation 'R5546:Mapkbp1'

436262

Institutional Source

Beutler Lab

Gene Symbol

Mapkbp1

Ensembl Gene

ENSMUSG00000033902

Gene Name

mitogen-activated protein kinase binding protein 1

Synonyms

2810483F24Rik, Jnkbp1

MMRRC Submission

043104-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5546 (G1)

Quality Score

203

Status

Not validated

Chromosome

Chromosomal Location

119972699-120027408 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120019243 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 732 (R732H)

Ref Sequence

ENSEMBL: ENSMUSP00000155163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066058] [ENSMUST00000229024]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066058
AA Change: R726H

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: R726H

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

noncoding transcript
Transcript: ENSMUST00000128077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184907

Predicted Effect

probably damaging
Transcript: ENSMUST00000229024
AA Change: R732H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,929,633	N385S	probably benign	Het
Ahctf1	A	T	1: 179,754,068	I1523N	probably benign	Het
Akna	C	T	4: 63,394,959	G309E	probably benign	Het
Akna	T	C	4: 63,395,566	N107D	probably benign	Het
Arhgef15	G	A	11: 68,954,051	P240L	probably benign	Het
Brd1	T	A	15: 88,701,122	E836D	probably benign	Het
Brf2	A	G	8: 27,124,283	S292P	possibly damaging	Het
C3	A	G	17: 57,222,976	L500P	probably damaging	Het
Ccdc107	T	C	4: 43,495,685	L196P	probably damaging	Het
Cdcp1	G	T	9: 123,178,029	P551Q	probably damaging	Het
Ckap5	T	C	2: 91,594,816	L1224P	probably damaging	Het
Csnk1g2	C	A	10: 80,638,398	T178K	probably benign	Het
Ctsq	A	T	13: 61,037,888	C146*	probably null	Het
Cyp2ab1	T	A	16: 20,313,757	I264F	probably damaging	Het
Daxx	TGATGATGACGATGATGACGATGATGA	TGATGATGACGATGATGA	17: 33,912,641		probably benign	Het
Dnah11	G	A	12: 117,975,848	T3179M	possibly damaging	Het
Dnah7c	A	T	1: 46,666,317	T2497S	probably damaging	Het
Eif4enif1	T	C	11: 3,243,989	V776A	probably damaging	Het
Erbb4	G	T	1: 68,298,293	T622N	probably damaging	Het
Erich6	A	G	3: 58,618,797	Y595H	probably benign	Het
Fam107a	C	T	14: 8,298,764	A121T	probably benign	Het
Gif	T	C	19: 11,748,495	S50P	possibly damaging	Het
Gpatch11	C	T	17: 78,842,119	Q183*	probably null	Het
Gpr161	C	A	1: 165,306,413	F81L	possibly damaging	Het
Hook1	G	T	4: 96,002,528	E291D	probably benign	Het
Hsf2bp	T	A	17: 31,946,695	I309F	probably damaging	Het
Hspg2	T	C	4: 137,548,174		probably null	Het
Ide	T	G	19: 37,272,224	M910L	unknown	Het
Igdcc4	A	G	9: 65,128,795	Y712C	probably damaging	Het
Kmt2d	T	C	15: 98,853,068		probably benign	Het
Lats1	T	C	10: 7,705,754	Y768H	probably damaging	Het
Mageb3	A	G	2: 121,954,387	V278A	probably damaging	Het
Marveld2	T	C	13: 100,600,938	I148V	probably benign	Het
Mast1	G	C	8: 84,916,260	P969A	probably damaging	Het
Myh10	T	G	11: 68,798,380	V1261G	possibly damaging	Het
Nlrp1b	A	T	11: 71,217,276	H466Q	probably benign	Het
Npr2	T	G	4: 43,650,150	V905G	probably damaging	Het
Oip5	T	A	2: 119,610,327	I240F	unknown	Het
Olfr1259	A	G	2: 89,943,585	C177R	probably damaging	Het
Olfr175-ps1	G	T	16: 58,824,153	Y185*	probably null	Het
Olfr874	T	A	9: 37,746,524	M130K	probably benign	Het
Pcsk2	G	A	2: 143,546,560	A24T	probably benign	Het
Plxnb1	G	T	9: 109,100,750	G225W	probably damaging	Het
Polr1a	T	C	6: 71,929,366	S389P	possibly damaging	Het
Prkca	A	G	11: 108,053,980	V175A	probably benign	Het
Rassf7	C	A	7: 141,217,060		probably null	Het
Rbl2	A	G	8: 91,078,932	I206V	probably benign	Het
Rnf111	A	T	9: 70,459,096	H353Q	probably benign	Het
Rpn1	T	G	6: 88,093,859	V237G	probably damaging	Het
Sec61a2	T	A	2: 5,876,540	I267F	possibly damaging	Het
Spop	G	T	11: 95,485,843	V241F	probably damaging	Het
Sptbn2	C	T	19: 4,725,950	A178V	probably damaging	Het
Stard13	A	G	5: 151,045,901	Y791H	probably benign	Het
Susd2	T	A	10: 75,642,218	I113L	probably benign	Het
Tcof1	T	C	18: 60,831,556	E666G	possibly damaging	Het
Tekt5	G	T	16: 10,361,390	A371E	possibly damaging	Het
Thap11	G	A	8: 105,855,916	E186K	probably damaging	Het
Tk2	A	T	8: 104,247,683	D45E	possibly damaging	Het
Tuba8	C	A	6: 121,222,913	Y185*	probably null	Het
Usp24	T	A	4: 106,416,047	Y2210N	probably damaging	Het
Wfdc8	A	T	2: 164,597,319		probably benign	Het
Zar1l	T	C	5: 150,512,900	N237S	probably damaging	Het
Zfp607b	A	T	7: 27,702,607	T163S	probably benign	Het
Zfp619	C	A	7: 39,535,153	H202Q	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
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
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'- AGGTCTGAAGAGGGACATTTC -3'
(R):5'- ATGGGCTTGTGCATGCAAAG -3'

Sequencing Primer
(F):5'- CTGAAGAGGGACATTTCTTGGTG -3'
(R):5'- CCTTGAGATTACCGGAGATGC -3'

Posted On

2016-10-24