Mutagenetix > Incidental Mutation

Incidental Mutation 'R9803:Mapkbp1'

735299

Institutional Source

Beutler Lab

Gene Symbol

Mapkbp1

Ensembl Gene

ENSMUSG00000033902

Gene Name

mitogen-activated protein kinase binding protein 1

Synonyms

2810483F24Rik, Jnkbp1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9803 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119972699-120027408 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120010775 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 81 (H81L)

Ref Sequence

ENSEMBL: ENSMUSP00000068516 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000066058
AA Change: H81L

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: H81L

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

possibly damaging
Transcript: ENSMUST00000229024
AA Change: H81L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	G	5: 113,703,903	S52P	unknown	Het
Ank2	A	G	3: 126,959,077	M330T	possibly damaging	Het
Ankar	C	T	1: 72,659,181	V905I	possibly damaging	Het
Anln	G	T	9: 22,372,222	D438E	probably damaging	Het
C1ql3	T	C	2: 13,004,389	N215S	probably damaging	Het
Ccdc110	A	G	8: 45,942,589	S506G	probably benign	Het
Ccdc87	A	G	19: 4,841,147	T556A	probably benign	Het
Cma1	A	T	14: 55,941,729	N236K	probably benign	Het
Csmd2	T	C	4: 128,369,193	F724S		Het
Cts8	T	C	13: 61,253,322	K130R	possibly damaging	Het
Daam1	A	T	12: 71,944,148	T179S	unknown	Het
Fancd2os	T	C	6: 113,597,977	T23A	possibly damaging	Het
Gbgt1	T	A	2: 28,504,854	I168N	probably damaging	Het
Gckr	G	A	5: 31,300,024	G127D	probably damaging	Het
Gm11444	G	A	11: 85,846,873	Q164*	probably null	Het
Gm28042	T	A	2: 120,038,503	V526E	possibly damaging	Het
Gm8947	T	C	1: 151,192,971	V185A	possibly damaging	Het
Hoxd13	C	A	2: 74,668,903	H198Q	possibly damaging	Het
Hps6	T	A	19: 46,005,508	L628*	probably null	Het
Igha	G	A	12: 113,259,139	H221Y		Het
Ighm	A	G	12: 113,419,015	S453P		Het
Inpp5f	A	C	7: 128,676,791	D435A	possibly damaging	Het
Lfng	A	G	5: 140,607,773	T120A	probably damaging	Het
Lrrc4	C	T	6: 28,662,200	A172T	probably benign	Het
Lrrc56	A	G	7: 141,207,607	T386A	probably benign	Het
Mfsd14b	C	A	13: 65,073,600	V293L	probably benign	Het
Mrto4	T	A	4: 139,349,070	N70I	probably damaging	Het
Mxra8	C	T	4: 155,839,825		probably benign	Het
Myo1h	A	G	5: 114,345,936	E548G		Het
Ncan	C	T	8: 70,108,101	D739N	probably benign	Het
Olfr315	T	C	11: 58,778,769	V214A	probably benign	Het
Oxgr1	T	C	14: 120,022,151	T215A	possibly damaging	Het
Pcdhgb7	T	A	18: 37,752,035	V86E	probably damaging	Het
Pclo	G	A	5: 14,712,615	V416M		Het
Phf3	G	T	1: 30,830,791	T392K	probably benign	Het
Pkhd1	A	T	1: 20,566,849	V379E	probably damaging	Het
Ppfia3	T	C	7: 45,341,115	Y1080C	probably benign	Het
Ptprs	C	A	17: 56,422,217	G1254C	probably damaging	Het
Qsox1	A	T	1: 155,782,670	D384E	probably benign	Het
Rergl	A	G	6: 139,500,763	F23L	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Sidt2	A	G	9: 45,943,614	Y588H	probably damaging	Het
Tas2r139	T	A	6: 42,141,132	I66K	probably damaging	Het
Tbc1d30	T	A	10: 121,272,075	D474V	probably damaging	Het
Tenm4	G	A	7: 96,553,478	G100D	probably damaging	Het
Tmem258	G	A	19: 10,207,273	V75I	probably benign	Het
Tmem91	G	T	7: 25,670,563	H95N	probably damaging	Het
Trps1	T	C	15: 50,846,694	K87E	possibly damaging	Het
Tspan11	T	A	6: 127,943,717	M209K	probably benign	Het
Tspan17	C	A	13: 54,793,279	Q124K	probably benign	Het
Uts2b	G	A	16: 27,360,942	R105*	probably null	Het
Vmn2r110	T	A	17: 20,583,468	T282S	probably benign	Het
Xdh	T	A	17: 73,922,460	M333L	probably benign	Het
Zbtb3	A	G	19: 8,804,469	E482G	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCTGGTGACTAGGCTTCTG -3'
(R):5'- TGGTTGACCCTAGACTGTGC -3'

Sequencing Primer
(F):5'- ACTAGGCTTCTGGTGGAGAGC -3'
(R):5'- AGACTGTGCCCCCTTCC -3'

Posted On

2022-11-14