Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03054:Mapkbp1'

453012

Institutional Source

Beutler Lab

Gene Symbol

Mapkbp1

Ensembl Gene

ENSMUSG00000033902

Gene Name

mitogen-activated protein kinase binding protein 1

Synonyms

2810483F24Rik, Jnkbp1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119803180-119857889 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119845881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 417 (T417A)

Ref Sequence

ENSEMBL: ENSMUSP00000155163 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066058
AA Change: T411A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: T411A

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: T417A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.3462

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Acsbg3	A	G	17: 57,193,528 (GRCm39)	T625A	possibly damaging	Het
Aloxe3	T	C	11: 69,020,433 (GRCm39)	V159A	possibly damaging	Het
Atp13a2	T	A	4: 140,734,279 (GRCm39)	C1134S	possibly damaging	Het
Ccdc40	G	A	11: 119,154,027 (GRCm39)	E1100K	possibly damaging	Het
Ceacam5	A	T	7: 17,493,379 (GRCm39)	T801S	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Col4a2	T	C	8: 11,498,270 (GRCm39)	I1693T	probably damaging	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Dab2	G	T	15: 6,447,707 (GRCm39)		probably benign	Het
Dao	T	C	5: 114,162,963 (GRCm39)	L345P	probably damaging	Het
Dis3l	A	G	9: 64,217,722 (GRCm39)		probably null	Het
Egr3	C	T	14: 70,316,561 (GRCm39)	T124M	probably damaging	Het
Gng7	G	T	10: 80,787,485 (GRCm39)	F59L	probably damaging	Het
Itgb4	C	A	11: 115,891,166 (GRCm39)	Y1190*	probably null	Het
Lacc1	T	C	14: 77,268,355 (GRCm39)	M319V	possibly damaging	Het
Mier3	C	T	13: 111,822,848 (GRCm39)		probably benign	Het
Mlxipl	A	G	5: 135,162,110 (GRCm39)	D569G	possibly damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrpl15	A	G	1: 4,855,794 (GRCm39)		probably null	Het
Neb	T	C	2: 52,161,334 (GRCm39)	N2153D	probably damaging	Het
Nlrp9c	A	G	7: 26,081,701 (GRCm39)		probably null	Het
Npepps	C	T	11: 97,132,614 (GRCm39)		probably benign	Het
Or13a17	T	G	7: 140,271,623 (GRCm39)	S268R	probably benign	Het
Or1j10	A	T	2: 36,266,944 (GRCm39)	H52L	possibly damaging	Het
Or52z12	C	A	7: 103,234,047 (GRCm39)	H273N	probably benign	Het
Psmc4	T	C	7: 27,746,605 (GRCm39)	Y160C	probably damaging	Het
Rims1	T	C	1: 22,360,333 (GRCm39)	Y131C	probably damaging	Het
Riok1	G	A	13: 38,231,291 (GRCm39)	G183D	probably damaging	Het
Samd9l	T	A	6: 3,376,023 (GRCm39)	I413F	probably damaging	Het
Tnfrsf22	A	G	7: 143,194,532 (GRCm39)	Y132H	probably damaging	Het
Ttn	T	A	2: 76,726,104 (GRCm39)		probably benign	Het
Tulp1	A	G	17: 28,578,287 (GRCm39)		probably benign	Het
Usp15	C	A	10: 122,961,836 (GRCm39)		probably benign	Het
Wdr7	G	T	18: 63,958,192 (GRCm39)		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
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
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'- TCCTTACTGGGTGCATATATAACAG -3'
(R):5'- ATGATCAAGATTCGGGGAGCC -3'

Sequencing Primer
(F):5'- CTGGGTGCATATATAACAGTAATGTC -3'
(R):5'- TCAAGATTCGGGGAGCCAGTTC -3'

Posted On

2017-01-24