Mutagenetix > Incidental Mutation

Incidental Mutation 'R1299:Mapkbp1'

158236

Institutional Source

Beutler Lab

Gene Symbol

Mapkbp1

Ensembl Gene

ENSMUSG00000033902

Gene Name

mitogen-activated protein kinase binding protein 1

Synonyms

2810483F24Rik, Jnkbp1

MMRRC Submission

039365-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1299 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119803180-119857889 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119845885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 412 (C412Y)

Ref Sequence

ENSEMBL: ENSMUSP00000068516 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000066058
AA Change: C412Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: C412Y

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: ENSMUST00000137760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184907

Predicted Effect

probably damaging
Transcript: ENSMUST00000229024
AA Change: C418Y

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

Meta Mutation Damage Score

0.9452

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,244,821 (GRCm39)	L2228P	possibly damaging	Het
Acnat1	T	A	4: 49,450,925 (GRCm39)	E62V	possibly damaging	Het
Adam7	A	G	14: 68,763,748 (GRCm39)		probably benign	Het
Ate1	A	T	7: 130,106,485 (GRCm39)	V292D	probably damaging	Het
Cbx8	T	C	11: 118,931,676 (GRCm39)	M1V	probably null	Het
Cdc73	T	C	1: 143,575,019 (GRCm39)	D58G	probably benign	Het
Cgnl1	G	A	9: 71,628,994 (GRCm39)		probably benign	Het
Col27a1	G	A	4: 63,183,868 (GRCm39)		probably benign	Het
Fam133b	T	C	5: 3,604,626 (GRCm39)		probably benign	Het
Fndc3a	A	G	14: 72,803,638 (GRCm39)		probably benign	Het
Golga3	G	A	5: 110,352,709 (GRCm39)	A867T	probably benign	Het
Gpr142	A	T	11: 114,695,185 (GRCm39)	Y50F	probably benign	Het
Gramd1c	A	G	16: 43,803,865 (GRCm39)		probably benign	Het
Gypa	G	A	8: 81,223,382 (GRCm39)	V53I	unknown	Het
H2-DMb2	T	C	17: 34,369,561 (GRCm39)	V235A	probably benign	Het
Igkv10-94	T	C	6: 68,681,482 (GRCm39)		probably benign	Het
Katnip	A	C	7: 125,451,195 (GRCm39)	M1109L	probably benign	Het
Klhl17	T	C	4: 156,315,419 (GRCm39)	Y484C	probably damaging	Het
Ltbp3	T	C	19: 5,795,456 (GRCm39)		probably benign	Het
Mblac2	C	A	13: 81,859,845 (GRCm39)	C65*	probably null	Het
Or5b104	T	A	19: 13,072,494 (GRCm39)	N173Y	possibly damaging	Het
Or6c217	A	G	10: 129,737,946 (GRCm39)	I211T	probably benign	Het
Parn	G	A	16: 13,482,593 (GRCm39)	T85M	probably benign	Het
Pcdhb22	T	C	18: 37,653,643 (GRCm39)	S704P	probably damaging	Het
Prex1	A	G	2: 166,427,827 (GRCm39)	F942L	possibly damaging	Het
Prox1	G	T	1: 189,879,140 (GRCm39)		probably benign	Het
Prss55	A	T	14: 64,319,147 (GRCm39)	I70N	probably damaging	Het
Slc25a13	C	T	6: 6,113,937 (GRCm39)		probably null	Het
Smarca2	T	C	19: 26,749,011 (GRCm39)		probably null	Het
Smarcc2	C	A	10: 128,297,247 (GRCm39)	N46K	probably damaging	Het
Tdpoz4	A	T	3: 93,703,769 (GRCm39)	Y22F	probably benign	Het
Tgfbr1	T	A	4: 47,396,587 (GRCm39)		probably null	Het
Xpr1	A	C	1: 155,292,949 (GRCm39)	I11S	probably damaging	Het
Zfp354b	A	C	11: 50,814,297 (GRCm39)	S209R	probably benign	Het
Zfp882	A	G	8: 72,667,317 (GRCm39)	E88G	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
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
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'- ACTCTGCCTTGGATGCCATAACCC -3'
(R):5'- TCCAACAAAGCCTGAGTGTTCCC -3'

Sequencing Primer
(F):5'- TGGATGCCATAACCCTTTCC -3'
(R):5'- TGAGTGTTCCCATCCACATAG -3'

Posted On

2014-02-18