Mutagenetix > Incidental Mutation

Incidental Mutation 'R1342:Mapkbp1'

156387

Institutional Source

Beutler Lab

Gene Symbol

Mapkbp1

Ensembl Gene

ENSMUSG00000033902

Gene Name

mitogen-activated protein kinase binding protein 1

Synonyms

2810483F24Rik, Jnkbp1

MMRRC Submission

039407-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1342 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119803180-119857889 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 119829015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 57 (A57D)

Ref Sequence

ENSEMBL: ENSMUSP00000155163 (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: A57D

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: A57D

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: A57D

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

Meta Mutation Damage Score

0.2438

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp10a	G	T	7: 58,465,894 (GRCm39)		probably benign	Het
B3gnt9	T	C	8: 105,980,956 (GRCm39)	E144G	probably null	Het
Bcl9	G	T	3: 97,113,042 (GRCm39)	Q1138K	possibly damaging	Het
C6	T	C	15: 4,769,231 (GRCm39)		probably benign	Het
Ccl4	A	G	11: 83,554,402 (GRCm39)		probably benign	Het
Cdc73	A	G	1: 143,578,230 (GRCm39)		probably null	Het
Cemip	A	T	7: 83,593,283 (GRCm39)	L1140*	probably null	Het
Chd4	C	A	6: 125,074,151 (GRCm39)	P8Q	probably benign	Het
Col27a1	G	A	4: 63,175,351 (GRCm39)		probably null	Het
Col9a1	G	A	1: 24,262,701 (GRCm39)		probably null	Het
Colgalt1	C	T	8: 72,070,804 (GRCm39)	T232I	probably damaging	Het
Dnah8	A	G	17: 30,939,974 (GRCm39)	D1640G	probably damaging	Het
Dot1l	T	G	10: 80,621,859 (GRCm39)	C504G	probably benign	Het
Gm9892	T	C	8: 52,649,458 (GRCm39)	T212A	probably benign	Het
Hjurp	G	A	1: 88,205,090 (GRCm39)		probably benign	Het
Ifnar2	A	G	16: 91,200,809 (GRCm39)	D350G	possibly damaging	Het
Ift172	T	C	5: 31,419,210 (GRCm39)	I1144V	probably benign	Het
Ipo7	A	T	7: 109,629,011 (GRCm39)	N94Y	possibly damaging	Het
Irag1	T	A	7: 110,487,252 (GRCm39)	M699L	probably benign	Het
Mmd	T	A	11: 90,167,676 (GRCm39)	I235N	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Palld	A	G	8: 61,975,916 (GRCm39)		probably null	Het
Parp4	G	A	14: 56,827,854 (GRCm39)	E202K	probably damaging	Het
Pclo	C	A	5: 14,732,191 (GRCm39)		probably benign	Het
Pde8a	T	C	7: 80,952,042 (GRCm39)		probably null	Het
Pdgfrb	T	A	18: 61,198,952 (GRCm39)	L370*	probably null	Het
Phf2	A	T	13: 48,957,953 (GRCm39)	S1020R	unknown	Het
Pik3r4	T	A	9: 105,528,100 (GRCm39)		probably null	Het
Plxnb1	C	A	9: 108,929,720 (GRCm39)	P192Q	possibly damaging	Het
Ppil3	A	T	1: 58,480,037 (GRCm39)	I46N	probably damaging	Het
Prr14l	A	C	5: 32,987,604 (GRCm39)	C630W	probably damaging	Het
Rfx5	A	G	3: 94,865,723 (GRCm39)	I341V	probably benign	Het
Ryr3	T	C	2: 112,581,148 (GRCm39)	K2895E	probably damaging	Het
Slc5a12	T	C	2: 110,447,435 (GRCm39)		probably null	Het
Slc8a3	T	C	12: 81,362,790 (GRCm39)	T10A	probably damaging	Het
Ss18	A	G	18: 14,769,595 (GRCm39)	Y321H	unknown	Het
Sspo	A	G	6: 48,438,569 (GRCm39)	N1546D	probably benign	Het
Thbs4	G	A	13: 92,888,925 (GRCm39)	L923F	probably damaging	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	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
R0463:Mapkbp1	UTSW	2	119,853,632 (GRCm39)	missense	probably benign	0.01
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
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'- CGTCAGAGGCTGGGTTGTAGGA -3'
(R):5'- AGTGGATCACTGACCATTGATCACAAG -3'

Sequencing Primer
(F):5'- TTGTAGGAGCCTTTAGCACC -3'
(R):5'- ggggggggagagaagag -3'

Posted On

2014-02-11