Mutagenetix > Incidental Mutation

Incidental Mutation 'R8856:Mapkbp1'

675301

Institutional Source

Beutler Lab

Gene Symbol

Mapkbp1

Ensembl Gene

ENSMUSG00000033902

Gene Name

mitogen-activated protein kinase binding protein 1

Synonyms

2810483F24Rik, Jnkbp1

MMRRC Submission

068737-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8856 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119803180-119857889 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119845109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 330 (L330P)

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: L330P

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

SMART Domains

Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: L330P

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: L336P

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	A	6: 121,618,349 (GRCm39)	R214H	probably benign	Het
Abca4	A	G	3: 121,906,096 (GRCm39)	S822G	probably benign	Het
Adgrv1	T	A	13: 81,707,621 (GRCm39)	I1262F	probably benign	Het
Agbl2	A	G	2: 90,632,088 (GRCm39)	D482G	probably damaging	Het
Asph	T	A	4: 9,630,947 (GRCm39)	T134S	possibly damaging	Het
Cacna1a	C	T	8: 85,286,070 (GRCm39)	A905V	probably benign	Het
Cacna1b	C	T	2: 24,569,530 (GRCm39)	R798H	probably benign	Het
Cpne8	G	T	15: 90,486,044 (GRCm39)	Q140K	probably benign	Het
Crocc2	A	T	1: 93,120,847 (GRCm39)	N538I	probably benign	Het
Cyp2j9	T	A	4: 96,462,184 (GRCm39)	I366F	probably damaging	Het
Dchs1	A	T	7: 105,410,064 (GRCm39)	D1769E	probably damaging	Het
Def6	A	T	17: 28,435,972 (GRCm39)	I44F	probably damaging	Het
Dnah7a	G	A	1: 53,462,422 (GRCm39)	T3723M	probably damaging	Het
Ecd	T	A	14: 20,387,140 (GRCm39)	Y198F	probably damaging	Het
Ecel1	A	C	1: 87,079,760 (GRCm39)	M451R	probably damaging	Het
Eea1	A	G	10: 95,831,506 (GRCm39)	D199G	probably benign	Het
Efna5	A	T	17: 62,914,374 (GRCm39)	I217N	unknown	Het
F13a1	A	T	13: 37,100,859 (GRCm39)	D428E	probably damaging	Het
Fads1	T	G	19: 10,170,276 (GRCm39)	I272S	probably benign	Het
Fam149a	C	T	8: 45,834,611 (GRCm39)	A63T		Het
Fam83a	A	T	15: 57,872,977 (GRCm39)	N269Y	probably damaging	Het
Fasn	G	A	11: 120,708,979 (GRCm39)	T568I	possibly damaging	Het
Fbn1	A	G	2: 125,156,637 (GRCm39)	S2363P	probably damaging	Het
Fbxl4	T	A	4: 22,390,803 (GRCm39)	W329R	probably damaging	Het
Fgf12	A	T	16: 28,008,233 (GRCm39)	V189E	probably damaging	Het
Frmd4b	A	T	6: 97,269,359 (GRCm39)	Y984*	probably null	Het
Galm	A	G	17: 80,490,661 (GRCm39)	T273A	possibly damaging	Het
Gm43302	A	G	5: 105,438,739 (GRCm39)	S50P	probably damaging	Het
Gm45861	C	T	8: 28,010,788 (GRCm39)	S561L	unknown	Het
Gnao1	A	G	8: 94,538,045 (GRCm39)	I28V	probably benign	Het
Golga4	A	G	9: 118,385,779 (GRCm39)	N967S	probably damaging	Het
Gpr155	A	T	2: 73,203,993 (GRCm39)	F274I	probably benign	Het
Grm1	A	C	10: 10,595,092 (GRCm39)	N845K	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,443,120 (GRCm39)		probably null	Het
Hsf4	G	T	8: 105,996,628 (GRCm39)	D18Y	probably null	Het
Htt	T	A	5: 35,060,675 (GRCm39)	D2774E	probably benign	Het
Iars2	A	G	1: 185,028,621 (GRCm39)	I679T	probably benign	Het
Irf4	T	C	13: 30,945,414 (GRCm39)	F387L	probably damaging	Het
Itgb5	A	G	16: 33,720,962 (GRCm39)	Y342C	probably damaging	Het
Kcnmb4	A	G	10: 116,282,299 (GRCm39)	W133R	possibly damaging	Het
Ldhc	A	T	7: 46,525,999 (GRCm39)	H271L	probably benign	Het
Lmtk2	C	A	5: 144,113,079 (GRCm39)	D1266E	probably damaging	Het
Lrrtm1	C	A	6: 77,221,807 (GRCm39)	N421K	possibly damaging	Het
Ly9	G	A	1: 171,432,587 (GRCm39)	T142I	probably benign	Het
Manba	A	G	3: 135,223,764 (GRCm39)	Y217C	probably damaging	Het
Marchf2	A	T	17: 33,915,165 (GRCm39)	V143E	probably benign	Het
Mmel1	A	T	4: 154,969,478 (GRCm39)	D191V	possibly damaging	Het
Mrgpra1	A	T	7: 46,985,583 (GRCm39)	I32N	probably benign	Het
Mroh2b	C	T	15: 4,960,510 (GRCm39)	Q748*	probably null	Het
Mrpl34	T	G	8: 71,918,024 (GRCm39)	W66G	probably damaging	Het
Muc21	T	C	17: 35,931,865 (GRCm39)	T774A	unknown	Het
Nde1	T	A	16: 14,001,446 (GRCm39)	S165T		Het
Nek10	T	G	14: 14,937,610 (GRCm38)	I776M	probably damaging	Het
Nell2	A	G	15: 95,281,552 (GRCm39)	S385P	probably damaging	Het
Nsf	A	T	11: 103,821,568 (GRCm39)	F29Y	possibly damaging	Het
Nsmaf	A	T	4: 6,433,320 (GRCm39)	Y133*	probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or14j8	A	T	17: 38,263,091 (GRCm39)	S275T	possibly damaging	Het
Pcdhb8	A	G	18: 37,489,776 (GRCm39)	I485V	probably benign	Het
Poteg	T	A	8: 27,938,033 (GRCm39)	M1K	probably null	Het
Pramel24	A	T	4: 143,453,303 (GRCm39)	N137I	probably benign	Het
Prdm5	G	A	6: 65,860,569 (GRCm39)	V418I	possibly damaging	Het
Psmc6	T	A	14: 45,578,320 (GRCm39)	C228S	probably damaging	Het
Ptgfrn	C	T	3: 100,963,927 (GRCm39)	A562T	possibly damaging	Het
Ralgapa2	G	T	2: 146,184,139 (GRCm39)	Q1576K	probably benign	Het
Ranbp9	C	T	13: 43,567,506 (GRCm39)	G400D	probably damaging	Het
Rgs11	A	T	17: 26,423,484 (GRCm39)	I134F	probably damaging	Het
Rnf150	T	A	8: 83,762,715 (GRCm39)	C317S	probably damaging	Het
Rrm2b	G	A	15: 37,960,858 (GRCm39)		probably benign	Het
Scai	T	C	2: 38,996,978 (GRCm39)	Q272R	probably benign	Het
Sec62	C	T	3: 30,847,506 (GRCm39)	R4C	possibly damaging	Het
Sgo2b	C	A	8: 64,393,091 (GRCm39)	L115F	probably null	Het
Slc44a3	G	A	3: 121,307,456 (GRCm39)	P177S	probably damaging	Het
Slc45a4	G	A	15: 73,457,966 (GRCm39)	L528F	probably damaging	Het
Slco1a1	G	T	6: 141,857,624 (GRCm39)	A569D	probably damaging	Het
Stam2	G	T	2: 52,604,984 (GRCm39)	Q184K	probably damaging	Het
Tada2b	A	T	5: 36,641,166 (GRCm39)	L79Q	probably damaging	Het
Tecpr1	T	C	5: 144,153,117 (GRCm39)	E204G	possibly damaging	Het
Tecta	A	T	9: 42,284,597 (GRCm39)	D829E	probably benign	Het
Tepsin	A	G	11: 119,982,654 (GRCm39)	V472A	probably benign	Het
Tnfrsf1a	G	A	6: 125,334,688 (GRCm39)	M109I	possibly damaging	Het
Trim42	A	T	9: 97,245,275 (GRCm39)	Y508*	probably null	Het
Trmo	T	G	4: 46,387,625 (GRCm39)	N65T	probably benign	Het
Tspear	G	T	10: 77,665,471 (GRCm39)	E86*	probably null	Het
Ubr1	A	T	2: 120,734,523 (GRCm39)	S1126T	probably damaging	Het
Usp50	C	A	2: 126,622,477 (GRCm39)	D28Y	probably damaging	Het
Utp6	T	A	11: 79,842,455 (GRCm39)	I225F	probably benign	Het
Utrn	T	C	10: 12,543,351 (GRCm39)	T1766A	probably benign	Het
Vcl	T	A	14: 21,045,160 (GRCm39)	N288K	probably benign	Het
Vmn2r69	T	C	7: 85,061,663 (GRCm39)	N104D	probably benign	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfhx4	T	A	3: 5,455,484 (GRCm39)	S1159R	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
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
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'- AGCACCAGAAAGAAAGTATGCT -3'
(R):5'- CCAGACACAGGAGGAGTGAT -3'

Sequencing Primer
(F):5'- AGTACCAAGAGCCTTGCTTG -3'
(R):5'- TGATACAGAGCGGAGTACACCTTC -3'

Posted On

2021-07-15