Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02625:Map4'

301039

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map4

Ensembl Gene

ENSMUSG00000032479

Gene Name

microtubule-associated protein 4

Synonyms

Mtap4, MAP 4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02625

Quality Score

Status

Chromosome

Chromosomal Location

109931460-110083955 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110064417 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 584 (S584P)

Ref Sequence

ENSEMBL: ENSMUSP00000142439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035055] [ENSMUST00000163979] [ENSMUST00000164930] [ENSMUST00000165876] [ENSMUST00000198511] [ENSMUST00000199161] [ENSMUST00000199461] [ENSMUST00000199498] [ENSMUST00000199548]

AlphaFold

P27546

Predicted Effect

probably damaging
Transcript: ENSMUST00000035055
AA Change: S737P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000035055
Gene: ENSMUSG00000032479
AA Change: S737P

Domain	Start	End	E-Value	Type
low complexity region	254	265	N/A	INTRINSIC
internal_repeat_1	266	379	4.96e-7	PROSPERO
low complexity region	401	420	N/A	INTRINSIC
internal_repeat_1	439	550	4.96e-7	PROSPERO
low complexity region	659	674	N/A	INTRINSIC
low complexity region	720	742	N/A	INTRINSIC
low complexity region	760	775	N/A	INTRINSIC
low complexity region	879	889	N/A	INTRINSIC
Pfam:Tubulin-binding	903	926	2e-12	PFAM
Pfam:Tubulin-binding	965	995	4.9e-18	PFAM
Pfam:Tubulin-binding	996	1026	7.4e-18	PFAM
Pfam:Tubulin-binding	1027	1058	4.4e-15	PFAM
low complexity region	1093	1108	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163190
AA Change: S1197P

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably damaging
Transcript: ENSMUST00000163979
AA Change: S26P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129362
Gene: ENSMUSG00000032479
AA Change: S26P

Domain	Start	End	E-Value	Type
low complexity region	9	17	N/A	INTRINSIC
low complexity region	324	341	N/A	INTRINSIC
low complexity region	365	376	N/A	INTRINSIC
low complexity region	506	521	N/A	INTRINSIC
low complexity region	567	589	N/A	INTRINSIC
low complexity region	607	622	N/A	INTRINSIC
low complexity region	726	736	N/A	INTRINSIC
Pfam:Tubulin-binding	743	773	5.8e-16	PFAM
Pfam:Tubulin-binding	774	804	2.2e-18	PFAM
Pfam:Tubulin-binding	805	836	1.6e-11	PFAM
low complexity region	871	886	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000164930
AA Change: S584P

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

SMART Domains

Protein: ENSMUSP00000131285
Gene: ENSMUSG00000032479
AA Change: S584P

Domain	Start	End	E-Value	Type
low complexity region	9	17	N/A	INTRINSIC
low complexity region	324	341	N/A	INTRINSIC
low complexity region	365	376	N/A	INTRINSIC
low complexity region	506	521	N/A	INTRINSIC
low complexity region	567	589	N/A	INTRINSIC
low complexity region	607	622	N/A	INTRINSIC
low complexity region	726	736	N/A	INTRINSIC
Pfam:Tubulin-binding	743	773	6e-16	PFAM
Pfam:Tubulin-binding	774	804	4.5e-19	PFAM
Pfam:Tubulin-binding	805	835	2.3e-18	PFAM
Pfam:Tubulin-binding	836	867	1.6e-11	PFAM
low complexity region	902	917	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165876
AA Change: S737P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000132662
Gene: ENSMUSG00000032479
AA Change: S737P

Domain	Start	End	E-Value	Type
low complexity region	254	265	N/A	INTRINSIC
internal_repeat_1	266	379	4.95e-7	PROSPERO
low complexity region	401	420	N/A	INTRINSIC
internal_repeat_1	439	550	4.95e-7	PROSPERO
low complexity region	659	674	N/A	INTRINSIC
low complexity region	720	742	N/A	INTRINSIC
low complexity region	760	775	N/A	INTRINSIC
low complexity region	879	889	N/A	INTRINSIC
Pfam:Tubulin-binding	896	926	8.5e-16	PFAM
Pfam:Tubulin-binding	965	995	6.4e-19	PFAM
Pfam:Tubulin-binding	996	1026	3.3e-18	PFAM
Pfam:Tubulin-binding	1027	1058	2.3e-11	PFAM
low complexity region	1093	1108	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198185

Predicted Effect

probably benign
Transcript: ENSMUST00000198511

SMART Domains

Protein: ENSMUSP00000142558
Gene: ENSMUSG00000032479

Domain	Start	End	E-Value	Type
low complexity region	7	17	N/A	INTRINSIC
Pfam:Tubulin-binding	24	54	7.3e-14	PFAM
Pfam:Tubulin-binding	55	85	5.3e-17	PFAM
Pfam:Tubulin-binding	86	116	2.8e-16	PFAM
Pfam:Tubulin-binding	117	148	1.9e-9	PFAM
low complexity region	183	198	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199161

SMART Domains

Protein: ENSMUSP00000143205
Gene: ENSMUSG00000032479

Domain	Start	End	E-Value	Type
Pfam:Tubulin-binding	16	46	6.7e-14	PFAM
Pfam:Tubulin-binding	47	77	4.9e-17	PFAM
Pfam:Tubulin-binding	78	108	2.5e-16	PFAM
Pfam:Tubulin-binding	109	140	1.7e-9	PFAM
low complexity region	176	191	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199461

SMART Domains

Protein: ENSMUSP00000143296
Gene: ENSMUSG00000032479

Domain	Start	End	E-Value	Type
low complexity region	99	109	N/A	INTRINSIC
Pfam:Tubulin-binding	116	146	1e-13	PFAM
Pfam:Tubulin-binding	147	177	3.8e-16	PFAM
Pfam:Tubulin-binding	178	209	2.6e-9	PFAM
low complexity region	244	259	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000199498
AA Change: S584P

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

SMART Domains

Protein: ENSMUSP00000142439
Gene: ENSMUSG00000032479
AA Change: S584P

Domain	Start	End	E-Value	Type
low complexity region	9	17	N/A	INTRINSIC
low complexity region	324	341	N/A	INTRINSIC
low complexity region	365	376	N/A	INTRINSIC
low complexity region	506	521	N/A	INTRINSIC
low complexity region	567	589	N/A	INTRINSIC
low complexity region	607	622	N/A	INTRINSIC
low complexity region	726	736	N/A	INTRINSIC
Pfam:Tubulin-binding	743	773	5.8e-16	PFAM
Pfam:Tubulin-binding	774	804	2.2e-18	PFAM
Pfam:Tubulin-binding	805	836	1.6e-11	PFAM
low complexity region	871	886	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199548

SMART Domains

Protein: ENSMUSP00000143408
Gene: ENSMUSG00000032479

Domain	Start	End	E-Value	Type
low complexity region	99	109	N/A	INTRINSIC
Pfam:Tubulin-binding	116	146	1.1e-13	PFAM
Pfam:Tubulin-binding	147	177	7.9e-17	PFAM
Pfam:Tubulin-binding	178	208	4.1e-16	PFAM
Pfam:Tubulin-binding	209	240	2.8e-9	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 is a major non-neuronal microtubule-associated protein. This protein contains a domain similar to the microtubule-binding domains of neuronal microtubule-associated protein (MAP2) and microtubule-associated protein tau (MAPT/TAU). This protein promotes microtubule assembly, and has been shown to counteract destabilization of interphase microtubule catastrophe promotion. Cyclin B was found to interact with this protein, which targets cell division cycle 2 (CDC2) kinase to microtubules. The phosphorylation of this protein affects microtubule properties and cell cycle progression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele are viable and do not display any overt phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg6	T	A	4: 99,746,347	C109S	probably damaging	Het
Arhgdia	C	A	11: 120,580,213	E53D	probably benign	Het
Ccr4	A	C	9: 114,492,333	C221W	probably damaging	Het
Ces2a	G	A	8: 104,740,278		probably null	Het
Chpf2	G	T	5: 24,591,711	E552*	probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnmt1	C	T	9: 20,927,146	R207H	probably benign	Het
Dock2	A	G	11: 34,501,168		probably null	Het
Esr1	A	T	10: 5,001,346	T575S	probably benign	Het
Fancc	A	G	13: 63,398,151	C93R	probably damaging	Het
Foxj3	A	T	4: 119,624,917	R523W	unknown	Het
Fryl	C	T	5: 73,069,877		probably benign	Het
Fsip2	A	C	2: 82,949,492	H194P	probably benign	Het
Gaa	G	A	11: 119,274,733	V350I	probably damaging	Het
Gpn3	T	A	5: 122,381,194	I152N	probably damaging	Het
H2-M10.3	T	A	17: 36,367,525	H136L	probably benign	Het
Hist4h4	C	T	6: 136,804,337		probably benign	Het
Hspg2	A	G	4: 137,512,642	D507G	probably damaging	Het
Jcad	A	G	18: 4,674,422	E728G	probably benign	Het
Kat14	G	A	2: 144,402,445	R406H	possibly damaging	Het
Kcnma1	G	T	14: 23,363,832	D863E	probably damaging	Het
Lrp1	A	G	10: 127,574,486	Y1464H	probably damaging	Het
Nlrp4f	G	A	13: 65,199,271	L58F	probably damaging	Het
Nlrp6	A	G	7: 140,923,500	I506M	probably benign	Het
Nudt17	G	A	3: 96,706,464	R266W	probably damaging	Het
Olfr1241	A	G	2: 89,482,674	S154P	probably damaging	Het
Olfr1256	A	G	2: 89,835,396	L183P	probably damaging	Het
Olfr651	A	G	7: 104,553,573	Y218C	probably damaging	Het
Plcb4	A	G	2: 135,961,794	E529G	probably benign	Het
Prss32	A	T	17: 23,856,236	I187F	possibly damaging	Het
Prss55	A	T	14: 64,079,369	I108K	probably damaging	Het
Rcl1	A	G	19: 29,118,341	M109V	probably benign	Het
Rho	A	T	6: 115,935,197	M207L	possibly damaging	Het
Slc12a1	A	G	2: 125,170,691	D291G	probably damaging	Het
Slco2b1	A	C	7: 99,660,123		probably null	Het
Stx11	T	A	10: 12,941,917	D21V	possibly damaging	Het
Svep1	T	A	4: 58,115,807	Y962F	possibly damaging	Het
Tbx5	G	T	5: 119,836,907		probably benign	Het
Tcf12	C	A	9: 71,922,757	G141W	probably damaging	Het
Tmtc2	A	G	10: 105,370,546	M296T	probably damaging	Het
Trim13	T	A	14: 61,605,550	S339T	probably benign	Het
Ugt1a7c	A	G	1: 88,095,517	K133E	possibly damaging	Het
Usp40	A	G	1: 87,950,017	V1050A	probably benign	Het
Vmn2r86	T	G	10: 130,452,912	N240T	probably damaging	Het
Wdr36	T	C	18: 32,859,261	V617A	possibly damaging	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	Het
Wdr6	T	C	9: 108,575,505	Y393C	probably damaging	Het
Zfp619	A	T	7: 39,534,185		probably benign	Het

Other mutations in Map4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Map4	APN	9	110072604	splice site	probably benign
IGL01331:Map4	APN	9	110034801	missense	probably benign	0.04
IGL01599:Map4	APN	9	110034768	missense	probably benign	0.26
IGL01631:Map4	APN	9	110063133	unclassified	probably benign
IGL02208:Map4	APN	9	109978870	start codon destroyed	probably null	1.00
IGL02455:Map4	APN	9	109999833	missense	probably benign	0.15
PIT4486001:Map4	UTSW	9	110072614	missense	probably damaging	1.00
R0149:Map4	UTSW	9	110067624	missense	probably damaging	0.96
R0384:Map4	UTSW	9	110034628	missense	probably damaging	0.99
R0392:Map4	UTSW	9	110078045	missense	probably damaging	1.00
R0496:Map4	UTSW	9	110039850	intron	probably benign
R0526:Map4	UTSW	9	110037278	splice site	probably null
R0555:Map4	UTSW	9	109979103	splice site	probably benign
R0571:Map4	UTSW	9	110036766	missense	probably benign	0.00
R0698:Map4	UTSW	9	110068788	nonsense	probably null
R0762:Map4	UTSW	9	110038478	intron	probably benign
R0862:Map4	UTSW	9	109978969	missense	probably damaging	1.00
R0864:Map4	UTSW	9	109978969	missense	probably damaging	1.00
R1168:Map4	UTSW	9	110034964	missense	probably benign	0.00
R1238:Map4	UTSW	9	110068580	missense	probably benign	0.00
R1735:Map4	UTSW	9	110034955	missense	probably benign	0.00
R1869:Map4	UTSW	9	110034964	missense	probably benign	0.00
R1869:Map4	UTSW	9	110068928	missense	possibly damaging	0.95
R2196:Map4	UTSW	9	110071048	missense	probably damaging	1.00
R2264:Map4	UTSW	9	110081457	missense	probably damaging	1.00
R2507:Map4	UTSW	9	110037483	intron	probably benign
R2512:Map4	UTSW	9	110034702	missense	possibly damaging	0.48
R3087:Map4	UTSW	9	110053189	missense	possibly damaging	0.84
R3154:Map4	UTSW	9	109999792	missense	probably benign	0.19
R3498:Map4	UTSW	9	110035212	missense	probably benign	0.03
R3547:Map4	UTSW	9	110052198	missense	possibly damaging	0.61
R3751:Map4	UTSW	9	110038674	intron	probably benign
R4036:Map4	UTSW	9	110032215	missense	possibly damaging	0.47
R4423:Map4	UTSW	9	110067594	missense	probably damaging	1.00
R4505:Map4	UTSW	9	110032185	missense	probably benign	0.01
R4561:Map4	UTSW	9	110052371	missense	possibly damaging	0.91
R4577:Map4	UTSW	9	110081421	missense	possibly damaging	0.48
R4601:Map4	UTSW	9	110052819	missense	possibly damaging	0.75
R4795:Map4	UTSW	9	110035263	missense	probably benign	0.00
R4801:Map4	UTSW	9	110035257	missense	probably benign	0.15
R4802:Map4	UTSW	9	110035257	missense	probably benign	0.15
R4999:Map4	UTSW	9	110038377	intron	probably benign
R5020:Map4	UTSW	9	110068800	missense	probably benign	0.02
R5021:Map4	UTSW	9	110038089	nonsense	probably null
R5049:Map4	UTSW	9	110079814	nonsense	probably null
R5451:Map4	UTSW	9	110037783	intron	probably benign
R5452:Map4	UTSW	9	110037783	intron	probably benign
R5453:Map4	UTSW	9	110037783	intron	probably benign
R5492:Map4	UTSW	9	110052382	missense	possibly damaging	0.68
R5532:Map4	UTSW	9	110034678	missense	probably benign	0.24
R5602:Map4	UTSW	9	110052700	missense	possibly damaging	0.84
R5628:Map4	UTSW	9	110081847	missense	probably benign	0.04
R5896:Map4	UTSW	9	110072634	missense	possibly damaging	0.91
R6017:Map4	UTSW	9	110034619	missense	probably benign	0.00
R6084:Map4	UTSW	9	110064292	missense	probably damaging	1.00
R6294:Map4	UTSW	9	110002746	missense	possibly damaging	0.82
R6397:Map4	UTSW	9	110027716	missense	possibly damaging	0.78
R6773:Map4	UTSW	9	110034925	missense	probably benign	0.00
R6997:Map4	UTSW	9	110052914	missense	probably benign	0.35
R7141:Map4	UTSW	9	109978870	start codon destroyed	probably null	1.00
R7187:Map4	UTSW	9	110053133	missense	probably benign	0.03
R7320:Map4	UTSW	9	110081517	missense	probably benign	0.24
R7469:Map4	UTSW	9	110027797	splice site	probably null
R7479:Map4	UTSW	9	110068824	missense	possibly damaging	0.94
R7487:Map4	UTSW	9	110027715	missense	probably damaging	1.00
R7690:Map4	UTSW	9	109999793	missense	probably damaging	0.99
R7780:Map4	UTSW	9	110034652	missense	probably benign	0.00
R7998:Map4	UTSW	9	110079861	missense	probably damaging	1.00
R8028:Map4	UTSW	9	110068744	missense	probably damaging	1.00
R8557:Map4	UTSW	9	110064302	splice site	probably null
R8950:Map4	UTSW	9	110072634	missense	possibly damaging	0.91
R8972:Map4	UTSW	9	110035117	missense	probably benign
R9145:Map4	UTSW	9	110026200	missense	probably damaging	0.99
R9297:Map4	UTSW	9	110053412	missense	probably benign	0.02
R9332:Map4	UTSW	9	110035155	missense	probably benign	0.00
R9354:Map4	UTSW	9	110068779	missense	probably benign
R9419:Map4	UTSW	9	110052961	missense	possibly damaging	0.92
R9430:Map4	UTSW	9	110034692	missense	probably benign	0.41
R9437:Map4	UTSW	9	110035087	missense	possibly damaging	0.46
R9718:Map4	UTSW	9	110072706	critical splice donor site	probably null
Z1177:Map4	UTSW	9	110068523	critical splice acceptor site	probably null

Posted On

2015-04-16