Mutagenetix > Incidental Mutation

Incidental Mutation 'R0463:Mapkbp1'

41454

Institutional Source

Beutler Lab

Gene Symbol

Mapkbp1

Ensembl Gene

ENSMUSG00000033902

Gene Name

mitogen-activated protein kinase binding protein 1

Synonyms

2810483F24Rik, Jnkbp1

MMRRC Submission

038663-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0463 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119803180-119857889 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119853632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1152 (M1152K)

Ref Sequence

ENSEMBL: ENSMUSP00000155163 (fasta)

Gene Model

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

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: M1146K

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

SMART Domains

Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: M1146K

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: ENSMUST00000148161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141511

Predicted Effect

probably benign
Transcript: ENSMUST00000229024
AA Change: M1152K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

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: 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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,884,926 (GRCm39)		probably benign	Het
Abcd2	C	T	15: 91,043,327 (GRCm39)	M620I	probably benign	Het
Ada	T	A	2: 163,572,271 (GRCm39)	I243F	probably benign	Het
Adam12	T	C	7: 133,576,145 (GRCm39)		probably null	Het
Adarb2	A	T	13: 8,253,224 (GRCm39)		probably benign	Het
Adk	A	C	14: 21,473,604 (GRCm39)	Q287P	probably benign	Het
Ahnak	A	G	19: 8,986,771 (GRCm39)		probably benign	Het
Aoc3	C	T	11: 101,222,432 (GRCm39)	R223W	probably damaging	Het
Aqp11	T	C	7: 97,378,228 (GRCm39)	D229G	probably benign	Het
Arhgap28	A	G	17: 68,203,220 (GRCm39)	S78P	probably damaging	Het
Bfsp2	T	A	9: 103,303,854 (GRCm39)	E383D	possibly damaging	Het
Bmpr1b	A	T	3: 141,563,191 (GRCm39)	V251D	possibly damaging	Het
Calhm1	C	T	19: 47,132,280 (GRCm39)	V112I	probably benign	Het
Catsperd	A	G	17: 56,966,554 (GRCm39)	D508G	probably damaging	Het
Cfap54	A	G	10: 92,710,805 (GRCm39)		probably null	Het
Cfap70	A	T	14: 20,498,631 (GRCm39)	Y19N	probably damaging	Het
Chga	A	T	12: 102,529,210 (GRCm39)	R396*	probably null	Het
Cntnap3	T	C	13: 64,926,690 (GRCm39)	E560G	probably damaging	Het
Csmd1	T	C	8: 15,971,759 (GRCm39)	T3024A	probably damaging	Het
Csrnp1	CCCTCCTCCTCCTCCTCCTC	CCCTCCTCCTCCTCCTC	9: 119,801,841 (GRCm39)		probably benign	Het
Cysltr1	A	G	X: 105,622,261 (GRCm39)	V75A	possibly damaging	Het
Dnaaf11	T	A	15: 66,252,323 (GRCm39)	M448L	probably benign	Het
Dnah2	A	T	11: 69,313,952 (GRCm39)	M4140K	probably damaging	Het
Dph5	A	G	3: 115,722,352 (GRCm39)	S277G	probably benign	Het
Eftud2	A	T	11: 102,755,597 (GRCm39)	D203E	probably damaging	Het
Egf	A	G	3: 129,499,882 (GRCm39)	Y252H	probably benign	Het
Egf	A	G	3: 129,531,198 (GRCm39)	S126P	probably damaging	Het
Faf1	C	T	4: 109,748,138 (GRCm39)	A481V	probably benign	Het
Fat2	A	T	11: 55,153,655 (GRCm39)	V3519D	probably damaging	Het
Fbln7	C	A	2: 128,719,431 (GRCm39)	A76E	probably benign	Het
Galnt1	A	T	18: 24,387,582 (GRCm39)	K49N	probably benign	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Grk1	T	C	8: 13,459,279 (GRCm39)	Y277H	probably damaging	Het
Hap1	A	G	11: 100,240,131 (GRCm39)	L555P	probably damaging	Het
Ier3	T	C	17: 36,133,000 (GRCm39)	I94T	possibly damaging	Het
Il11	T	C	7: 4,779,023 (GRCm39)	T36A	probably damaging	Het
Il5ra	A	T	6: 106,708,851 (GRCm39)	D296E	probably damaging	Het
Itk	A	T	11: 46,222,816 (GRCm39)	V551E	probably damaging	Het
Kcna2	T	A	3: 107,012,476 (GRCm39)	D352E	probably benign	Het
Kif5a	A	T	10: 127,071,521 (GRCm39)	S776T	probably benign	Het
Klrb1c	T	C	6: 128,757,366 (GRCm39)	E233G	probably benign	Het
Kpna7	T	C	5: 144,944,804 (GRCm39)	K12R	possibly damaging	Het
Lhpp	C	T	7: 132,212,406 (GRCm39)		probably benign	Het
Lhx8	A	T	3: 154,033,808 (GRCm39)		probably null	Het
Magel2	T	A	7: 62,027,778 (GRCm39)	H227Q	possibly damaging	Het
Man1a	A	G	10: 53,950,594 (GRCm39)	V176A	probably damaging	Het
Mcoln3	T	A	3: 145,846,331 (GRCm39)	L547*	probably null	Het
Myof	T	C	19: 37,904,952 (GRCm39)	D1624G	probably damaging	Het
Myom2	T	C	8: 15,154,123 (GRCm39)	V687A	probably benign	Het
Nav1	C	A	1: 135,379,945 (GRCm39)	V1586F	possibly damaging	Het
Ndufb8	T	C	19: 44,538,784 (GRCm39)	E179G	possibly damaging	Het
Nfam1	T	C	15: 82,885,684 (GRCm39)	T223A	probably damaging	Het
Nrcam	T	A	12: 44,598,124 (GRCm39)	V371E	probably damaging	Het
Nup210l	A	G	3: 90,087,518 (GRCm39)	Q1097R	probably null	Het
Obox5	T	A	7: 15,491,571 (GRCm39)	M37K	probably damaging	Het
Obscn	A	T	11: 58,952,356 (GRCm39)	N4270K	probably benign	Het
Or4d2	G	A	11: 87,784,022 (GRCm39)	H243Y	probably damaging	Het
Or5ak25	T	A	2: 85,268,630 (GRCm39)	S291C	probably damaging	Het
Or6c1	A	G	10: 129,517,708 (GRCm39)	M300T	probably benign	Het
Or8c15	G	A	9: 38,120,360 (GRCm39)	A2T	probably benign	Het
Or8k16	T	C	2: 85,520,183 (GRCm39)	S137P	possibly damaging	Het
Patj	G	A	4: 98,562,545 (GRCm39)	E1505K	probably damaging	Het
Pnliprp1	T	A	19: 58,726,628 (GRCm39)	Y328*	probably null	Het
Ppp1r36	G	A	12: 76,465,741 (GRCm39)	E43K	probably damaging	Het
Ptch1	C	T	13: 63,668,121 (GRCm39)	V939I	probably damaging	Het
Rgs22	C	A	15: 36,093,084 (GRCm39)	K396N	probably damaging	Het
Rsrc1	A	T	3: 67,088,194 (GRCm39)	H176L	probably damaging	Het
Ryr3	A	T	2: 112,492,046 (GRCm39)	F3743L	probably damaging	Het
Scn7a	C	T	2: 66,506,084 (GRCm39)	G1602R	probably benign	Het
Sftpc	A	T	14: 70,760,110 (GRCm39)	V49E	probably damaging	Het
Slc16a10	A	G	10: 39,916,612 (GRCm39)	V430A	probably benign	Het
Slco4c1	A	C	1: 96,795,645 (GRCm39)	S138A	possibly damaging	Het
Snd1	T	C	6: 28,724,955 (GRCm39)	I501T	probably benign	Het
Stxbp2	T	A	8: 3,682,559 (GRCm39)	D49E	probably damaging	Het
Sytl4	A	T	X: 132,862,936 (GRCm39)	D16E	probably benign	Het
Tbc1d9b	G	A	11: 50,035,894 (GRCm39)	G130E	probably benign	Het
Tdrd6	T	A	17: 43,936,452 (GRCm39)	D1532V	probably damaging	Het
Tekt1	T	C	11: 72,242,778 (GRCm39)	D243G	probably damaging	Het
Tet2	A	G	3: 133,192,427 (GRCm39)	L669S	possibly damaging	Het
Tnnt3	A	G	7: 142,066,072 (GRCm39)	N201S	probably benign	Het
Trdn	A	G	10: 33,342,417 (GRCm39)		probably null	Het
Trim36	T	C	18: 46,311,523 (GRCm39)	E259G	possibly damaging	Het
Trpm1	C	T	7: 63,870,002 (GRCm39)	P436S	probably benign	Het
Vmn1r183	T	A	7: 23,754,926 (GRCm39)	L243Q	probably damaging	Het
Vps13b	T	C	15: 35,597,555 (GRCm39)	S1032P	probably damaging	Het
Vps37d	T	C	5: 135,105,395 (GRCm39)	E76G	probably damaging	Het
Vps72	A	G	3: 95,028,615 (GRCm39)	H202R	probably benign	Het
Wdr75	T	C	1: 45,858,762 (GRCm39)	S644P	probably damaging	Het
Wrn	T	A	8: 33,770,843 (GRCm39)	E697V	possibly damaging	Het
Xirp2	A	G	2: 67,345,262 (GRCm39)	D2501G	probably benign	Het
Zfp472	T	C	17: 33,194,936 (GRCm39)	W24R	probably damaging	Het
Zmym6	T	C	4: 127,016,565 (GRCm39)	V782A	probably damaging	Het

Other mutations in Mapkbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01102:Mapkbp1	APN	2	119,852,339 (GRCm39)	missense	possibly damaging	0.94
IGL01309:Mapkbp1	APN	2	119,849,423 (GRCm39)	missense	probably damaging	1.00
IGL01728:Mapkbp1	APN	2	119,854,302 (GRCm39)	missense	probably damaging	1.00
IGL01808:Mapkbp1	APN	2	119,853,650 (GRCm39)	splice site	probably null
IGL02185:Mapkbp1	APN	2	119,845,144 (GRCm39)	missense	possibly damaging	0.58
IGL02421:Mapkbp1	APN	2	119,850,136 (GRCm39)	missense	possibly damaging	0.95
IGL02691:Mapkbp1	APN	2	119,803,655 (GRCm39)	splice site	probably benign
IGL03146:Mapkbp1	APN	2	119,828,955 (GRCm39)	splice site	probably benign
IGL03387:Mapkbp1	APN	2	119,828,979 (GRCm39)	missense	probably damaging	0.99
IGL03054:Mapkbp1	UTSW	2	119,845,881 (GRCm39)	missense	probably damaging	0.97
R0118:Mapkbp1	UTSW	2	119,855,696 (GRCm39)	missense	probably benign	0.00
R0393:Mapkbp1	UTSW	2	119,843,384 (GRCm39)	splice site	probably null
R0788:Mapkbp1	UTSW	2	119,854,482 (GRCm39)	missense	probably benign	0.02
R0928:Mapkbp1	UTSW	2	119,845,849 (GRCm39)	missense	probably benign	0.00
R1104:Mapkbp1	UTSW	2	119,841,554 (GRCm39)	splice site	probably benign
R1162:Mapkbp1	UTSW	2	119,855,799 (GRCm39)	missense	possibly damaging	0.87
R1219:Mapkbp1	UTSW	2	119,849,831 (GRCm39)	nonsense	probably null
R1299:Mapkbp1	UTSW	2	119,845,885 (GRCm39)	missense	probably damaging	1.00
R1300:Mapkbp1	UTSW	2	119,844,136 (GRCm39)	missense	probably benign	0.25
R1342:Mapkbp1	UTSW	2	119,829,015 (GRCm39)	missense	possibly damaging	0.95
R1456:Mapkbp1	UTSW	2	119,803,626 (GRCm39)	missense	probably damaging	1.00
R1464:Mapkbp1	UTSW	2	119,851,742 (GRCm39)	missense	probably benign
R1464:Mapkbp1	UTSW	2	119,851,742 (GRCm39)	missense	probably benign
R1470:Mapkbp1	UTSW	2	119,848,301 (GRCm39)	missense	probably damaging	1.00
R1470:Mapkbp1	UTSW	2	119,848,301 (GRCm39)	missense	probably damaging	1.00
R1660:Mapkbp1	UTSW	2	119,849,029 (GRCm39)	missense	possibly damaging	0.83
R2008:Mapkbp1	UTSW	2	119,843,146 (GRCm39)	missense	probably damaging	1.00
R2083:Mapkbp1	UTSW	2	119,845,963 (GRCm39)	missense	possibly damaging	0.96
R2371:Mapkbp1	UTSW	2	119,841,261 (GRCm39)	missense	probably damaging	1.00
R2423:Mapkbp1	UTSW	2	119,855,071 (GRCm39)	missense	probably benign	0.00
R3976:Mapkbp1	UTSW	2	119,852,339 (GRCm39)	missense	possibly damaging	0.94
R4009:Mapkbp1	UTSW	2	119,854,086 (GRCm39)	missense	probably benign	0.00
R4183:Mapkbp1	UTSW	2	119,848,346 (GRCm39)	missense	probably damaging	1.00
R4246:Mapkbp1	UTSW	2	119,843,508 (GRCm39)	missense	probably damaging	1.00
R4503:Mapkbp1	UTSW	2	119,846,187 (GRCm39)	missense	probably damaging	1.00
R4513:Mapkbp1	UTSW	2	119,854,174 (GRCm39)	missense	possibly damaging	0.63
R4517:Mapkbp1	UTSW	2	119,855,545 (GRCm39)	intron	probably benign
R4742:Mapkbp1	UTSW	2	119,847,299 (GRCm39)	missense	probably damaging	1.00
R5049:Mapkbp1	UTSW	2	119,845,982 (GRCm39)	splice site	probably benign
R5079:Mapkbp1	UTSW	2	119,844,214 (GRCm39)	missense	probably damaging	0.99
R5137:Mapkbp1	UTSW	2	119,852,662 (GRCm39)	missense	probably damaging	1.00
R5255:Mapkbp1	UTSW	2	119,847,735 (GRCm39)	missense	probably damaging	1.00
R5530:Mapkbp1	UTSW	2	119,845,836 (GRCm39)	missense	probably benign
R5546:Mapkbp1	UTSW	2	119,849,724 (GRCm39)	missense	probably damaging	1.00
R5634:Mapkbp1	UTSW	2	119,803,576 (GRCm39)	missense	probably damaging	1.00
R5696:Mapkbp1	UTSW	2	119,852,201 (GRCm39)	splice site	probably null
R5891:Mapkbp1	UTSW	2	119,854,413 (GRCm39)	nonsense	probably null
R6263:Mapkbp1	UTSW	2	119,853,772 (GRCm39)	missense	probably damaging	1.00
R6807:Mapkbp1	UTSW	2	119,851,640 (GRCm39)	missense	probably damaging	0.99
R6890:Mapkbp1	UTSW	2	119,846,283 (GRCm39)	missense	probably damaging	1.00
R7159:Mapkbp1	UTSW	2	119,855,613 (GRCm39)	missense	possibly damaging	0.72
R7467:Mapkbp1	UTSW	2	119,852,669 (GRCm39)	missense	probably damaging	1.00
R7536:Mapkbp1	UTSW	2	119,849,066 (GRCm39)	missense	probably damaging	1.00
R7564:Mapkbp1	UTSW	2	119,844,232 (GRCm39)	missense	probably benign	0.09
R7801:Mapkbp1	UTSW	2	119,842,554 (GRCm39)	missense	probably damaging	1.00
R7886:Mapkbp1	UTSW	2	119,843,128 (GRCm39)	missense	possibly damaging	0.90
R8095:Mapkbp1	UTSW	2	119,848,131 (GRCm39)	missense	probably benign	0.11
R8421:Mapkbp1	UTSW	2	119,849,431 (GRCm39)	missense	probably damaging	0.99
R8548:Mapkbp1	UTSW	2	119,854,572 (GRCm39)	missense	probably benign	0.33
R8856:Mapkbp1	UTSW	2	119,845,109 (GRCm39)	missense	probably damaging	1.00
R8971:Mapkbp1	UTSW	2	119,850,050 (GRCm39)	missense	probably benign
R9007:Mapkbp1	UTSW	2	119,850,143 (GRCm39)	missense	probably damaging	0.99
R9251:Mapkbp1	UTSW	2	119,853,671 (GRCm39)	missense	probably benign	0.00
R9255:Mapkbp1	UTSW	2	119,843,556 (GRCm39)	missense	probably damaging	1.00
R9361:Mapkbp1	UTSW	2	119,845,252 (GRCm39)	missense	probably benign	0.02
R9587:Mapkbp1	UTSW	2	119,847,277 (GRCm39)	missense	possibly damaging	0.80
R9685:Mapkbp1	UTSW	2	119,851,664 (GRCm39)	missense	probably benign	0.35
R9803:Mapkbp1	UTSW	2	119,841,256 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- AGGAAAGCACTGAGCCTTCTCTGG -3'
(R):5'- ATGCAGTGGCAAGCATGGTGAC -3'

Sequencing Primer
(F):5'- GAGCCTTCTCTGGGCCTTC -3'
(R):5'- CAAGCATGGTGACATGCC -3'

Posted On

2013-05-23