Mutagenetix > Incidental Mutation

Incidental Mutation 'R9718:Map4'

730613

Institutional Source

Beutler Lab

Gene Symbol

Map4

Ensembl Gene

ENSMUSG00000032479

Gene Name

microtubule-associated protein 4

Synonyms

Mtap4, MAP 4

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9718 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109931460-110083955 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 110072706 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035055 (fasta)

Gene Model

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

AlphaFold

P27546

Predicted Effect

probably null
Transcript: ENSMUST00000035055

SMART Domains

Protein: ENSMUSP00000035055
Gene: ENSMUSG00000032479

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163979

SMART Domains

Protein: ENSMUSP00000129362
Gene: ENSMUSG00000032479

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: ENSMUST00000164930

SMART Domains

Protein: ENSMUSP00000131285
Gene: ENSMUSG00000032479

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 benign
Transcript: ENSMUST00000165876

SMART Domains

Protein: ENSMUSP00000132662
Gene: ENSMUSG00000032479

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

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 benign
Transcript: ENSMUST00000199498

SMART Domains

Protein: ENSMUSP00000142439
Gene: ENSMUSG00000032479

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	A	C	2: 32,575,235		probably benign	Het
Acvr1c	A	T	2: 58,315,995	D34E	probably benign	Het
Arhgef19	T	C	4: 141,249,292	V455A	probably damaging	Het
Cbfa2t3	T	A	8: 122,638,197	D282V	probably benign	Het
Ccl9	T	A	11: 83,575,412	N114I	probably benign	Het
Cdan1	G	T	2: 120,724,169	A875E	probably damaging	Het
Celf2	A	T	2: 6,721,538	F61L	probably damaging	Het
Chd9	T	C	8: 90,986,173	Y875H	unknown	Het
Ckap5	A	T	2: 91,548,832	K39M	probably benign	Het
Clcn3	T	C	8: 60,937,400	H169R	possibly damaging	Het
Csmd3	C	A	15: 47,696,687	V1416F		Het
Cyp4v3	A	T	8: 45,320,666	H155Q	probably damaging	Het
Dhx36	A	G	3: 62,472,045	F874S	possibly damaging	Het
Dnah14	A	T	1: 181,622,979	Q719L	probably benign	Het
Evi2	C	T	11: 79,515,757	V331M	probably damaging	Het
Fcgrt	T	G	7: 45,095,429	E205A	possibly damaging	Het
Fkrp	G	T	7: 16,811,187	T250N	probably benign	Het
Galc	G	A	12: 98,259,314	P6S		Het
Gm13420	A	T	2: 29,747,536	L42Q	probably damaging	Het
Gm5134	A	T	10: 75,992,497	M304L	possibly damaging	Het
Gm813	A	G	16: 58,614,611	L117S	probably benign	Het
Haao	T	C	17: 83,834,786	E208G	probably damaging	Het
Hook1	T	A	4: 96,016,441	H553Q	probably benign	Het
Igdcc3	A	G	9: 65,182,998		probably null	Het
Ighv10-3	C	T	12: 114,523,634	V56I	probably benign	Het
Ighv1-62-1	G	T	12: 115,387,085	A15E	probably benign	Het
Krtap24-1	T	C	16: 88,611,490	*249W	probably null	Het
Ktn1	T	G	14: 47,673,051	I318R	probably damaging	Het
L3mbtl2	A	G	15: 81,687,922	T710A	unknown	Het
Ldha	A	T	7: 46,855,032	Q326L	possibly damaging	Het
Mdfic	T	A	6: 15,770,515	H173Q	probably damaging	Het
Noxred1	T	A	12: 87,224,918	Q159L	possibly damaging	Het
Olfr114	C	T	17: 37,590,023	G110D	probably benign	Het
Olfr584	T	C	7: 103,085,989	V152A	probably benign	Het
Omd	T	C	13: 49,589,860	S129P	probably damaging	Het
Parp16	A	G	9: 65,233,727	Y193C	probably damaging	Het
Pdzk1	A	G	3: 96,855,858	T201A		Het
Phldb2	T	A	16: 45,781,393	H728L	possibly damaging	Het
Ptchd4	C	T	17: 42,502,750	T514I	probably damaging	Het
Pusl1	T	C	4: 155,891,637	D24G	probably benign	Het
Rai1	G	A	11: 60,189,339	A1410T	probably benign	Het
Rint1	T	A	5: 23,800,723	H134Q	possibly damaging	Het
Rnf170	A	G	8: 26,129,215	S156G	unknown	Het
Rtf1	A	G	2: 119,705,505	D180G	possibly damaging	Het
Sectm1a	G	T	11: 121,069,664	D108E	probably damaging	Het
Senp7	T	A	16: 56,123,914	D200E	probably damaging	Het
Sfswap	A	G	5: 129,539,784	S431G	probably benign	Het
Sh3bp4	T	A	1: 89,145,750	D773E	probably damaging	Het
Shprh	T	C	10: 11,213,504	L1662P	probably damaging	Het
Slx4	G	T	16: 3,986,464	P829T	possibly damaging	Het
Snapc4	A	T	2: 26,378,521	S43T	probably damaging	Het
Ssh3	C	T	19: 4,262,409	R636Q	probably benign	Het
Strn4	G	A	7: 16,838,571	V679M	probably damaging	Het
Tas2r121	T	G	6: 132,700,802	Y69S	probably benign	Het
Tcerg1	C	T	18: 42,530,771	T341M	unknown	Het
Tjp2	A	C	19: 24,100,843	S895R	probably damaging	Het
Tmem220	G	T	11: 67,025,260	A28S	probably damaging	Het
Trdv1	G	A	14: 53,882,206	C109Y	probably damaging	Het
Trpc6	A	G	9: 8,634,189	Y423C	probably damaging	Het
Ttn	T	C	2: 76,794,683	M15184V	possibly damaging	Het
Ugt2b37	T	A	5: 87,242,943	Y355F	probably benign	Het
Vnn3	C	T	10: 23,869,556	R468*	probably null	Het
Washc5	T	A	15: 59,345,343	T792S	probably benign	Het
Wdfy4	T	C	14: 33,125,936	M820V		Het
Zfp961	T	A	8: 71,968,089	C149S	possibly damaging	Het
Zmat4	G	A	8: 23,748,491	V30M	probably damaging	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
IGL02625:Map4	APN	9	110064417	missense	probably damaging	1.00
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
Z1177:Map4	UTSW	9	110068523	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTCGGTGTCGGTTCTAAC -3'
(R):5'- GAAACACCTGACTATCACGAGCTG -3'

Sequencing Primer
(F):5'- GGTGTCGGTTCTAACTAGCCC -3'
(R):5'- TCCCTGGAAAATAACTATAGGCATC -3'

Posted On

2022-10-06