Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01991:Mapk8ip3'

182852

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mapk8ip3

Ensembl Gene

ENSMUSG00000024163

Gene Name

mitogen-activated protein kinase 8 interacting protein 3

Synonyms

JSAP1c, JSAP1b, JNK-interacting protein 3, Jip3, D17Wsu15e, JSAP1, JSAP1d, Syd2, sunday driver 2, JSAP1a, JUN/SAPK-associated protein 1, c-Jun NH2-terminal kinase (JNK)/stress-activated protein kinase-associated protein 1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.808) question?

Stock #

IGL01991

Quality Score

Status

Chromosome

Chromosomal Location

25116480-25155951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25146835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 136 (L136Q)

Ref Sequence

ENSEMBL: ENSMUSP00000136924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088345] [ENSMUST00000115228] [ENSMUST00000115229] [ENSMUST00000117509] [ENSMUST00000119115] [ENSMUST00000120035] [ENSMUST00000121723] [ENSMUST00000178969] [ENSMUST00000121787] [ENSMUST00000146923] [ENSMUST00000146706]

AlphaFold

Q9ESN9

Predicted Effect

probably benign
Transcript: ENSMUST00000088345
AA Change: L136Q

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000085683
Gene: ENSMUSG00000024163
AA Change: L136Q

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	236	249	N/A	INTRINSIC
low complexity region	261	270	N/A	INTRINSIC
PDB:2W83\|D	417	472	6e-20	PDB
coiled coil region	525	555	N/A	INTRINSIC
low complexity region	582	596	N/A	INTRINSIC
low complexity region	754	769	N/A	INTRINSIC
low complexity region	893	901	N/A	INTRINSIC
low complexity region	928	940	N/A	INTRINSIC
SCOP:d1flga_	987	1167	4e-8	SMART
Blast:WD40	1075	1116	6e-18	BLAST
low complexity region	1260	1276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115228
AA Change: L136Q

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110883
Gene: ENSMUSG00000024163
AA Change: L136Q

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	236	249	N/A	INTRINSIC
low complexity region	261	270	N/A	INTRINSIC
PDB:2W83\|D	411	466	7e-20	PDB
low complexity region	567	581	N/A	INTRINSIC
low complexity region	739	754	N/A	INTRINSIC
low complexity region	878	886	N/A	INTRINSIC
low complexity region	913	925	N/A	INTRINSIC
SCOP:d1flga_	972	1152	3e-8	SMART
Blast:WD40	1060	1101	6e-18	BLAST
low complexity region	1245	1261	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115229
AA Change: L136Q

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110884
Gene: ENSMUSG00000024163
AA Change: L136Q

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	184	2.9e-60	PFAM
low complexity region	244	257	N/A	INTRINSIC
low complexity region	269	278	N/A	INTRINSIC
Pfam:JIP_LZII	423	493	3.1e-32	PFAM
coiled coil region	533	563	N/A	INTRINSIC
low complexity region	590	604	N/A	INTRINSIC
low complexity region	762	777	N/A	INTRINSIC
low complexity region	901	909	N/A	INTRINSIC
low complexity region	936	948	N/A	INTRINSIC
SCOP:d1flga_	995	1175	4e-8	SMART
Blast:WD40	1083	1124	7e-18	BLAST
low complexity region	1268	1284	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117509
AA Change: L136Q

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112712
Gene: ENSMUSG00000024163
AA Change: L136Q

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	238	247	N/A	INTRINSIC
PDB:2W83\|D	394	449	7e-20	PDB
coiled coil region	502	532	N/A	INTRINSIC
low complexity region	559	573	N/A	INTRINSIC
low complexity region	731	746	N/A	INTRINSIC
low complexity region	870	878	N/A	INTRINSIC
low complexity region	905	917	N/A	INTRINSIC
SCOP:d1flga_	964	1144	3e-8	SMART
Blast:WD40	1052	1093	6e-18	BLAST
low complexity region	1237	1253	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119115
AA Change: L136Q

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112955
Gene: ENSMUSG00000024163
AA Change: L136Q

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.3e-72	PFAM
low complexity region	229	238	N/A	INTRINSIC
PDB:2W83\|D	385	440	7e-20	PDB
coiled coil region	493	523	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	722	737	N/A	INTRINSIC
low complexity region	861	869	N/A	INTRINSIC
low complexity region	896	908	N/A	INTRINSIC
SCOP:d1flga_	955	1135	3e-8	SMART
Blast:WD40	1043	1084	5e-18	BLAST
low complexity region	1228	1244	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120035
AA Change: L136Q

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114084
Gene: ENSMUSG00000024163
AA Change: L136Q

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	235	248	N/A	INTRINSIC
low complexity region	260	269	N/A	INTRINSIC
PDB:2W83\|D	416	471	6e-20	PDB
coiled coil region	524	554	N/A	INTRINSIC
low complexity region	581	595	N/A	INTRINSIC
low complexity region	753	768	N/A	INTRINSIC
low complexity region	892	900	N/A	INTRINSIC
low complexity region	927	939	N/A	INTRINSIC
SCOP:d1flga_	986	1166	3e-8	SMART
Blast:WD40	1074	1115	6e-18	BLAST
low complexity region	1259	1275	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121723
AA Change: L136Q

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113698
Gene: ENSMUSG00000024163
AA Change: L136Q

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1e-72	PFAM
low complexity region	230	239	N/A	INTRINSIC
PDB:2W83\|D	386	441	7e-20	PDB
coiled coil region	494	524	N/A	INTRINSIC
low complexity region	551	565	N/A	INTRINSIC
low complexity region	723	738	N/A	INTRINSIC
low complexity region	862	870	N/A	INTRINSIC
low complexity region	897	909	N/A	INTRINSIC
SCOP:d1flga_	956	1136	3e-8	SMART
Blast:WD40	1044	1085	5e-18	BLAST
low complexity region	1229	1245	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178969
AA Change: L136Q

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136924
Gene: ENSMUSG00000024163
AA Change: L136Q

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.1e-72	PFAM
low complexity region	236	249	N/A	INTRINSIC
low complexity region	261	270	N/A	INTRINSIC
PDB:2W83\|D	417	472	6e-20	PDB
coiled coil region	525	555	N/A	INTRINSIC
low complexity region	582	596	N/A	INTRINSIC
low complexity region	754	769	N/A	INTRINSIC
low complexity region	893	901	N/A	INTRINSIC
low complexity region	928	940	N/A	INTRINSIC
SCOP:d1flga_	987	1167	3e-8	SMART
Blast:WD40	1075	1116	6e-18	BLAST
low complexity region	1260	1276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121787
AA Change: L136Q

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113753
Gene: ENSMUSG00000024163
AA Change: L136Q

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	3.8e-73	PFAM
low complexity region	230	239	N/A	INTRINSIC
PDB:2W83\|D	380	435	8e-20	PDB
coiled coil region	488	518	N/A	INTRINSIC
low complexity region	545	559	N/A	INTRINSIC
low complexity region	717	732	N/A	INTRINSIC
low complexity region	856	864	N/A	INTRINSIC
low complexity region	891	903	N/A	INTRINSIC
SCOP:d1flga_	950	1130	3e-8	SMART
Blast:WD40	1038	1079	6e-18	BLAST
low complexity region	1223	1239	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146923
AA Change: L136Q

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114802
Gene: ENSMUSG00000024163
AA Change: L136Q

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	236	249	N/A	INTRINSIC
low complexity region	261	270	N/A	INTRINSIC
PDB:2W83\|D	417	472	6e-20	PDB
coiled coil region	525	555	N/A	INTRINSIC
low complexity region	582	596	N/A	INTRINSIC
low complexity region	754	769	N/A	INTRINSIC
low complexity region	893	901	N/A	INTRINSIC
low complexity region	928	940	N/A	INTRINSIC
SCOP:d1flga_	987	1167	4e-8	SMART
Blast:WD40	1075	1116	6e-18	BLAST
low complexity region	1260	1276	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148360

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126280

Predicted Effect

probably benign
Transcript: ENSMUST00000146706

SMART Domains

Protein: ENSMUSP00000118422
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
low complexity region	55	64	N/A	INTRINSIC
Pfam:JIP_LZII	203	235	1.6e-17	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene results in impaired lung morphogenesis, causes absence of the telencephalic commissure with multiple defects in brain development and axon guidance, may affect synaptic transmission, and invariably leads to neonatal death due to respiratory failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	T	6: 146,854,608 (GRCm39)	F145I	probably benign	Het
Acot7	A	G	4: 152,307,536 (GRCm39)	K152E	possibly damaging	Het
Adamts13	G	T	2: 26,880,610 (GRCm39)	G731V	probably damaging	Het
Als2cl	C	T	9: 110,721,985 (GRCm39)	R584C	probably benign	Het
Apba1	T	A	19: 23,914,836 (GRCm39)	S679T	possibly damaging	Het
Asxl3	G	A	18: 22,649,219 (GRCm39)	V403I	probably damaging	Het
Card11	T	C	5: 140,899,133 (GRCm39)	T14A	possibly damaging	Het
Creb1	T	C	1: 64,598,913 (GRCm39)	F97L	probably benign	Het
Crispld1	T	A	1: 17,823,241 (GRCm39)	H407Q	probably benign	Het
Crtac1	A	T	19: 42,402,560 (GRCm39)	L16Q	possibly damaging	Het
Cyp2c29	T	C	19: 39,318,759 (GRCm39)	I452T	probably damaging	Het
Dennd5b	A	T	6: 148,982,322 (GRCm39)	D95E	probably damaging	Het
Dysf	C	T	6: 84,090,600 (GRCm39)	P1002L	probably damaging	Het
Gm6878	G	A	14: 67,543,678 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,749,682 (GRCm39)	Y1048C	probably damaging	Het
Iqcc	T	A	4: 129,511,582 (GRCm39)	E105V	probably benign	Het
Lhx8	A	G	3: 154,030,191 (GRCm39)	L116P	probably damaging	Het
Lrrk2	A	G	15: 91,664,149 (GRCm39)	D1962G	probably damaging	Het
Map1b	T	A	13: 99,566,077 (GRCm39)	M2215L	unknown	Het
Mical3	T	C	6: 120,912,172 (GRCm39)	N1896D	probably damaging	Het
Mprip	A	G	11: 59,645,838 (GRCm39)	E674G	probably damaging	Het
Or6b13	C	T	7: 139,782,345 (GRCm39)	E113K	probably damaging	Het
Or8j3	T	C	2: 86,028,877 (GRCm39)	N73S	probably benign	Het
Pdzrn4	T	A	15: 92,299,807 (GRCm39)		probably null	Het
Pramel41	A	T	5: 94,593,705 (GRCm39)	Q10L	probably benign	Het
Prom1	T	C	5: 44,204,848 (GRCm39)	T209A	probably benign	Het
Prom2	C	A	2: 127,371,142 (GRCm39)	C785F	probably damaging	Het
Psg20	T	C	7: 18,418,350 (GRCm39)	Q139R	probably benign	Het
Rapgef6	T	A	11: 54,443,695 (GRCm39)	C93S	probably benign	Het
Rassf2	C	T	2: 131,842,352 (GRCm39)		probably null	Het
Scn11a	A	G	9: 119,648,970 (GRCm39)	I31T	probably damaging	Het
Slc4a5	A	T	6: 83,240,525 (GRCm39)	D164V	possibly damaging	Het
Slco3a1	T	C	7: 73,934,144 (GRCm39)	D676G	possibly damaging	Het
Tmcc2	T	C	1: 132,288,830 (GRCm39)	I208V	probably benign	Het
Traf4	T	C	11: 78,050,872 (GRCm39)	D428G	possibly damaging	Het
Trio	T	C	15: 27,871,360 (GRCm39)	I586V	possibly damaging	Het
Unc80	T	A	1: 66,508,668 (GRCm39)	C46*	probably null	Het
Vmn2r89	A	G	14: 51,689,676 (GRCm39)	N60D	probably benign	Het
Wscd1	A	T	11: 71,678,549 (GRCm39)	K391*	probably null	Het
Wwc2	A	T	8: 48,322,901 (GRCm39)	L400*	probably null	Het

Other mutations in Mapk8ip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Mapk8ip3	APN	17	25,119,793 (GRCm39)	missense	probably damaging	1.00
IGL01018:Mapk8ip3	APN	17	25,118,693 (GRCm39)	splice site	probably benign
IGL01066:Mapk8ip3	APN	17	25,120,692 (GRCm39)	missense	probably benign	0.00
IGL01656:Mapk8ip3	APN	17	25,137,003 (GRCm39)	missense	probably damaging	0.99
IGL02014:Mapk8ip3	APN	17	25,122,254 (GRCm39)	splice site	probably benign
IGL02219:Mapk8ip3	APN	17	25,118,532 (GRCm39)	missense	probably damaging	1.00
IGL03006:Mapk8ip3	APN	17	25,120,489 (GRCm39)	missense	probably benign
ANU74:Mapk8ip3	UTSW	17	25,119,551 (GRCm39)	missense	possibly damaging	0.94
FR4737:Mapk8ip3	UTSW	17	25,121,093 (GRCm39)	splice site	probably null
R0028:Mapk8ip3	UTSW	17	25,123,871 (GRCm39)	splice site	probably benign
R0401:Mapk8ip3	UTSW	17	25,128,145 (GRCm39)	intron	probably benign
R0496:Mapk8ip3	UTSW	17	25,133,424 (GRCm39)	splice site	probably benign
R1456:Mapk8ip3	UTSW	17	25,125,923 (GRCm39)	missense	probably damaging	1.00
R1503:Mapk8ip3	UTSW	17	25,123,897 (GRCm39)	missense	probably damaging	1.00
R1554:Mapk8ip3	UTSW	17	25,122,033 (GRCm39)	missense	probably benign	0.14
R1680:Mapk8ip3	UTSW	17	25,119,985 (GRCm39)	missense	probably damaging	1.00
R1733:Mapk8ip3	UTSW	17	25,155,824 (GRCm39)	missense	possibly damaging	0.70
R1741:Mapk8ip3	UTSW	17	25,118,828 (GRCm39)	missense	probably damaging	1.00
R1750:Mapk8ip3	UTSW	17	25,133,433 (GRCm39)	missense	probably null	1.00
R1774:Mapk8ip3	UTSW	17	25,143,119 (GRCm39)	critical splice donor site	probably null
R1845:Mapk8ip3	UTSW	17	25,133,557 (GRCm39)	missense	probably benign	0.29
R1911:Mapk8ip3	UTSW	17	25,123,025 (GRCm39)	missense	probably benign	0.00
R1993:Mapk8ip3	UTSW	17	25,133,562 (GRCm39)	missense	probably damaging	1.00
R2512:Mapk8ip3	UTSW	17	25,133,677 (GRCm39)	nonsense	probably null
R2656:Mapk8ip3	UTSW	17	25,131,781 (GRCm39)	missense	probably damaging	1.00
R2990:Mapk8ip3	UTSW	17	25,124,266 (GRCm39)	missense	probably benign	0.00
R4587:Mapk8ip3	UTSW	17	25,123,761 (GRCm39)	missense	probably damaging	1.00
R4617:Mapk8ip3	UTSW	17	25,123,761 (GRCm39)	missense	probably damaging	1.00
R4627:Mapk8ip3	UTSW	17	25,122,267 (GRCm39)	missense	probably benign
R4649:Mapk8ip3	UTSW	17	25,123,726 (GRCm39)	missense	probably damaging	1.00
R4868:Mapk8ip3	UTSW	17	25,120,389 (GRCm39)	missense	probably benign	0.04
R4903:Mapk8ip3	UTSW	17	25,120,183 (GRCm39)	missense	probably benign
R4915:Mapk8ip3	UTSW	17	25,128,127 (GRCm39)	missense	possibly damaging	0.75
R5447:Mapk8ip3	UTSW	17	25,118,163 (GRCm39)	missense	probably benign
R5642:Mapk8ip3	UTSW	17	25,122,285 (GRCm39)	missense	possibly damaging	0.63
R6320:Mapk8ip3	UTSW	17	25,125,879 (GRCm39)	missense	probably damaging	0.99
R6900:Mapk8ip3	UTSW	17	25,128,097 (GRCm39)	splice site	probably null
R7178:Mapk8ip3	UTSW	17	25,120,728 (GRCm39)	missense	probably benign	0.02
R7273:Mapk8ip3	UTSW	17	25,125,148 (GRCm39)	missense	probably benign	0.00
R7317:Mapk8ip3	UTSW	17	25,120,692 (GRCm39)	missense	probably benign	0.00
R7323:Mapk8ip3	UTSW	17	25,120,135 (GRCm39)	missense	probably benign
R7701:Mapk8ip3	UTSW	17	25,120,378 (GRCm39)	missense	possibly damaging	0.93
R7873:Mapk8ip3	UTSW	17	25,125,146 (GRCm39)	missense	probably benign	0.01
R8070:Mapk8ip3	UTSW	17	25,120,078 (GRCm39)	critical splice donor site	probably null
R8314:Mapk8ip3	UTSW	17	25,120,748 (GRCm39)	missense	probably benign	0.09
R8356:Mapk8ip3	UTSW	17	25,123,925 (GRCm39)	missense	probably damaging	1.00
R8441:Mapk8ip3	UTSW	17	25,139,474 (GRCm39)	intron	probably benign
R8537:Mapk8ip3	UTSW	17	25,120,652 (GRCm39)	nonsense	probably null
R8802:Mapk8ip3	UTSW	17	25,124,206 (GRCm39)	missense	probably damaging	1.00
R8864:Mapk8ip3	UTSW	17	25,118,492 (GRCm39)	missense	probably damaging	1.00
R8918:Mapk8ip3	UTSW	17	25,131,727 (GRCm39)	missense	probably damaging	1.00
R9312:Mapk8ip3	UTSW	17	25,146,925 (GRCm39)	critical splice acceptor site	probably null
R9599:Mapk8ip3	UTSW	17	25,118,124 (GRCm39)	missense	probably damaging	1.00
R9638:Mapk8ip3	UTSW	17	25,118,023 (GRCm39)	missense	probably benign
R9640:Mapk8ip3	UTSW	17	25,155,647 (GRCm39)	missense	possibly damaging	0.46
R9723:Mapk8ip3	UTSW	17	25,132,585 (GRCm39)	missense	possibly damaging	0.83
X0024:Mapk8ip3	UTSW	17	25,122,947 (GRCm39)	missense	possibly damaging	0.69

Posted On

2014-05-07