Mutagenetix > Incidental Mutations

Incidental Mutation 'R1735:Map4'

199642

Institutional Source

Beutler Lab

Gene Symbol

Map4

Ensembl Gene

ENSMUSG00000032479

Gene Name

microtubule-associated protein 4

Synonyms

Mtap4, MAP 4

MMRRC Submission

039767-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109931460-110083955 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110034955 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 416 (T416I)

Ref Sequence

ENSEMBL: ENSMUSP00000132662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035055] [ENSMUST00000165876]

AlphaFold

P27546

Predicted Effect

probably benign
Transcript: ENSMUST00000035055
AA Change: T416I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000035055
Gene: ENSMUSG00000032479
AA Change: T416I

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: ENSMUST00000165876
AA Change: T416I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000132662
Gene: ENSMUSG00000032479
AA Change: T416I

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

Coding Region Coverage

1x: 97.6%
3x: 97.0%
10x: 95.3%
20x: 92.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230110C19Rik	A	C	9: 8,027,265	S91A	probably benign	Het
Acot5	A	T	12: 84,075,487	I282F	probably benign	Het
Adam19	C	A	11: 46,138,917	Q730K	probably benign	Het
Adgrv1	A	G	13: 81,487,947	V3481A	possibly damaging	Het
Akr1c20	T	C	13: 4,487,208	D316G	probably benign	Het
Ap3b1	G	A	13: 94,493,717	V827I	unknown	Het
Aph1a	T	A	3: 95,895,509	D140E	probably damaging	Het
Arhgef19	G	T	4: 141,249,618	V502L	possibly damaging	Het
Arl9	T	C	5: 77,006,626	F67S	probably damaging	Het
B430305J03Rik	G	A	3: 61,363,940		probably benign	Het
B4galnt2	A	G	11: 95,890,983	F119L	probably damaging	Het
Bcap29	T	A	12: 31,630,840	N49I	probably damaging	Het
C77080	G	T	4: 129,223,577	S476R	probably damaging	Het
Capn11	T	A	17: 45,632,401	K616*	probably null	Het
Cdh12	T	A	15: 21,520,366	Y306N	probably damaging	Het
Cep350	T	A	1: 155,953,214	N315Y	probably damaging	Het
Cited2	C	A	10: 17,724,046	P34Q	probably damaging	Het
Cmya5	A	T	13: 93,089,789	D2930E	probably benign	Het
Cog3	T	A	14: 75,729,321	K470*	probably null	Het
Commd10	A	G	18: 46,990,485	T136A	probably benign	Het
Csf2ra	C	A	19: 61,226,344	D181Y	probably damaging	Het
Csmd1	T	A	8: 15,932,610	I2686F	probably damaging	Het
Dhx29	T	C	13: 112,945,086	S415P	probably benign	Het
Dsel	A	T	1: 111,860,915	F630Y	probably damaging	Het
Ell	T	A	8: 70,578,940	I96N	possibly damaging	Het
Ephx2	T	A	14: 66,088,303	I358L	probably benign	Het
Fam162b	A	G	10: 51,587,211	I120T	probably damaging	Het
Fam187a	T	C	11: 102,885,780	Y137H	probably damaging	Het
Fastk	T	C	5: 24,441,803	E403G	probably damaging	Het
Fcrlb	C	A	1: 170,907,332	V409F	probably benign	Het
Flot2	G	T	11: 78,058,005	A269S	probably benign	Het
Gpd2	T	A	2: 57,355,551	N419K	probably damaging	Het
Hecw1	A	T	13: 14,377,765	M61K	probably null	Het
Htr2a	T	C	14: 74,706,128	F383L	probably damaging	Het
Kctd6	C	T	14: 8,222,253	R32C	probably damaging	Het
Khdc1a	A	G	1: 21,350,965	T125A	probably benign	Het
Klhl40	T	C	9: 121,779,938	S390P	probably benign	Het
Lonp1	G	A	17: 56,614,956	T808I	probably damaging	Het
Loxhd1	A	C	18: 77,404,889	D1342A	probably damaging	Het
Lrat	T	C	3: 82,897,110	I187V	probably benign	Het
Lrif1	T	C	3: 106,735,846	*238Q	probably null	Het
Lrp2bp	T	C	8: 46,011,988	F48S	probably benign	Het
Mafg	A	G	11: 120,629,678	M32T	possibly damaging	Het
N4bp2	T	C	5: 65,808,316	F1236S	probably damaging	Het
Nfatc3	A	G	8: 106,083,834	D414G	probably damaging	Het
Nrip2	T	G	6: 128,405,074	V50G	probably damaging	Het
Olfr1449	T	A	19: 12,934,843	I35N	probably damaging	Het
Olfr16	A	G	1: 172,956,807	N4S	probably benign	Het
Olfr432	A	T	1: 174,050,799	K142I	probably benign	Het
Olfr608	T	A	7: 103,470,146	F36I	possibly damaging	Het
Pcdhb18	A	T	18: 37,490,769	H384L	probably benign	Het
Pik3r1	A	T	13: 101,686,374	Y607N	probably damaging	Het
Plagl2	G	A	2: 153,232,477	T168I	probably damaging	Het
Polr2a	A	G	11: 69,742,396	S912P	probably damaging	Het
Ppp1r16b	A	G	2: 158,761,495	K447E	possibly damaging	Het
Prkd1	T	C	12: 50,342,039	E907G	possibly damaging	Het
Rabep2	A	G	7: 126,444,540	R470G	probably damaging	Het
Rasal2	T	C	1: 157,174,160	Y518C	probably damaging	Het
Rbmxl1	A	G	8: 78,506,082	Y211H	probably damaging	Het
Rdh7	T	C	10: 127,884,585	Y306C	probably benign	Het
Rtn3	T	C	19: 7,457,911	I220V	probably damaging	Het
Scn8a	A	G	15: 101,015,861	N1045D	possibly damaging	Het
Scube1	T	C	15: 83,607,437	H952R	probably damaging	Het
Sf3b1	A	G	1: 55,000,652	I690T	probably damaging	Het
Sharpin	T	C	15: 76,347,936	K240R	probably benign	Het
Skint5	A	G	4: 113,563,459	I1108T	unknown	Het
Snip1	A	G	4: 125,071,201	D133G	probably benign	Het
St3gal3	T	C	4: 118,014,774	Y77C	probably damaging	Het
Sytl3	T	C	17: 6,715,481	V112A	probably benign	Het
Tnxb	C	T	17: 34,717,970	P3718S	probably damaging	Het
Ttc24	A	T	3: 88,073,094		probably null	Het
Ubr3	A	T	2: 70,009,129	E1529V	probably damaging	Het
Utrn	T	A	10: 12,710,138	H965L	probably benign	Het
Xrn2	T	A	2: 147,061,423	L781Q	probably damaging	Het
Zbtb11	T	C	16: 55,990,682	I401T	probably benign	Het
Zc3h14	C	T	12: 98,758,580	P167L	probably damaging	Het
Zfp609	G	T	9: 65,703,092	S863*	probably null	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
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'- GTCCCAGGCAATGATACGACATCC -3'
(R):5'- GTATAACCACGTCCTTGCCCAGAG -3'

Sequencing Primer
(F):5'- CTTCCAATAAAAATGGACTTGGCAC -3'
(R):5'- CTGATTCTGGGAGTGGAGAC -3'

Posted On

2014-05-23