Mutagenetix > Incidental Mutation

Incidental Mutation 'R4036:Map4'

313717

Institutional Source

Beutler Lab

Gene Symbol

Map4

Ensembl Gene

ENSMUSG00000032479

Gene Name

microtubule-associated protein 4

Synonyms

MAP 4, Mtap4

MMRRC Submission

040963-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4036 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109760528-109913023 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109861283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 216 (T216A)

Ref Sequence

ENSEMBL: ENSMUSP00000132662 (fasta)

Gene Model

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

AlphaFold

P27546

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035055
AA Change: T216A

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000035055
Gene: ENSMUSG00000032479
AA Change: T216A

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

possibly damaging
Transcript: ENSMUST00000165876
AA Change: T216A

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132662
Gene: ENSMUSG00000032479
AA Change: T216A

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: ENSMUST00000196729

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (33/33)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544M13Rik	T	C	13: 114,744,205 (GRCm39)		noncoding transcript	Het
Ahctf1	T	C	1: 179,590,181 (GRCm39)	Q1364R	possibly damaging	Het
Anxa2	A	G	9: 69,395,352 (GRCm39)	N265S	probably damaging	Het
Bcan	A	G	3: 87,903,423 (GRCm39)		probably null	Het
Cntln	A	G	4: 84,924,725 (GRCm39)	Y610C	probably damaging	Het
Cyp39a1	C	A	17: 43,987,831 (GRCm39)	A99E	probably damaging	Het
Drc1	A	G	5: 30,504,526 (GRCm39)	I223V	probably benign	Het
Eef2kmt	A	T	16: 5,063,135 (GRCm39)	V335D	probably damaging	Het
Fanci	T	C	7: 79,094,570 (GRCm39)	L1167P	probably damaging	Het
Glb1l3	A	C	9: 26,740,343 (GRCm39)	M329R	probably damaging	Het
Gns	C	A	10: 121,207,095 (GRCm39)	T72N	probably damaging	Het
Hspa2	T	C	12: 76,452,542 (GRCm39)	V412A	probably damaging	Het
Klk1b8	A	G	7: 43,447,511 (GRCm39)	I9V	probably null	Het
Metrn	T	C	17: 26,013,984 (GRCm39)	T281A	probably benign	Het
Mid1-ps1	G	A	Y: 90,773,563 (GRCm39)		noncoding transcript	Het
Ndc1	G	A	4: 107,268,269 (GRCm39)	D602N	probably benign	Het
Nsd1	A	G	13: 55,361,524 (GRCm39)	D164G	possibly damaging	Het
Or5ac22	T	A	16: 59,135,113 (GRCm39)	H219L	probably benign	Het
Pcdha8	T	C	18: 37,125,914 (GRCm39)	M132T	probably benign	Het
Pomt2	A	G	12: 87,158,296 (GRCm39)		probably null	Het
Prrt3	AGGGGG	AGGGG	6: 113,474,641 (GRCm39)		probably null	Het
Rfx6	T	A	10: 51,602,842 (GRCm39)	H786Q	probably damaging	Het
Scn4a	A	C	11: 106,212,883 (GRCm39)	L1374R	possibly damaging	Het
Slc16a9	C	T	10: 70,110,786 (GRCm39)	T124M	probably damaging	Het
Slc46a2	A	T	4: 59,913,818 (GRCm39)	F368L	probably damaging	Het
St18	T	A	1: 6,898,010 (GRCm39)	I604K	probably damaging	Het
Ttn	A	G	2: 76,548,497 (GRCm39)	V31935A	possibly damaging	Het
Urb1	T	C	16: 90,584,974 (GRCm39)	H549R	probably benign	Het
Vmn1r219	A	G	13: 23,347,272 (GRCm39)	M154V	probably benign	Het
Zfp575	G	A	7: 24,285,440 (GRCm39)	S67L	possibly damaging	Het

Other mutations in Map4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Map4	APN	9	109,901,672 (GRCm39)	splice site	probably benign
IGL01331:Map4	APN	9	109,863,869 (GRCm39)	missense	probably benign	0.04
IGL01599:Map4	APN	9	109,863,836 (GRCm39)	missense	probably benign	0.26
IGL01631:Map4	APN	9	109,892,201 (GRCm39)	unclassified	probably benign
IGL02208:Map4	APN	9	109,807,938 (GRCm39)	start codon destroyed	probably null	1.00
IGL02455:Map4	APN	9	109,828,901 (GRCm39)	missense	probably benign	0.15
IGL02625:Map4	APN	9	109,893,485 (GRCm39)	missense	probably damaging	1.00
PIT4486001:Map4	UTSW	9	109,901,682 (GRCm39)	missense	probably damaging	1.00
R0149:Map4	UTSW	9	109,896,692 (GRCm39)	missense	probably damaging	0.96
R0384:Map4	UTSW	9	109,863,696 (GRCm39)	missense	probably damaging	0.99
R0392:Map4	UTSW	9	109,907,113 (GRCm39)	missense	probably damaging	1.00
R0496:Map4	UTSW	9	109,868,918 (GRCm39)	intron	probably benign
R0526:Map4	UTSW	9	109,866,346 (GRCm39)	splice site	probably null
R0555:Map4	UTSW	9	109,808,171 (GRCm39)	splice site	probably benign
R0571:Map4	UTSW	9	109,865,834 (GRCm39)	missense	probably benign	0.00
R0698:Map4	UTSW	9	109,897,856 (GRCm39)	nonsense	probably null
R0762:Map4	UTSW	9	109,867,546 (GRCm39)	intron	probably benign
R0862:Map4	UTSW	9	109,808,037 (GRCm39)	missense	probably damaging	1.00
R0864:Map4	UTSW	9	109,808,037 (GRCm39)	missense	probably damaging	1.00
R1168:Map4	UTSW	9	109,864,032 (GRCm39)	missense	probably benign	0.00
R1238:Map4	UTSW	9	109,897,648 (GRCm39)	missense	probably benign	0.00
R1735:Map4	UTSW	9	109,864,023 (GRCm39)	missense	probably benign	0.00
R1869:Map4	UTSW	9	109,897,996 (GRCm39)	missense	possibly damaging	0.95
R1869:Map4	UTSW	9	109,864,032 (GRCm39)	missense	probably benign	0.00
R2196:Map4	UTSW	9	109,900,116 (GRCm39)	missense	probably damaging	1.00
R2264:Map4	UTSW	9	109,910,525 (GRCm39)	missense	probably damaging	1.00
R2507:Map4	UTSW	9	109,866,551 (GRCm39)	intron	probably benign
R2512:Map4	UTSW	9	109,863,770 (GRCm39)	missense	possibly damaging	0.48
R3087:Map4	UTSW	9	109,882,257 (GRCm39)	missense	possibly damaging	0.84
R3154:Map4	UTSW	9	109,828,860 (GRCm39)	missense	probably benign	0.19
R3498:Map4	UTSW	9	109,864,280 (GRCm39)	missense	probably benign	0.03
R3547:Map4	UTSW	9	109,881,266 (GRCm39)	missense	possibly damaging	0.61
R3751:Map4	UTSW	9	109,867,742 (GRCm39)	intron	probably benign
R4423:Map4	UTSW	9	109,896,662 (GRCm39)	missense	probably damaging	1.00
R4505:Map4	UTSW	9	109,861,253 (GRCm39)	missense	probably benign	0.01
R4561:Map4	UTSW	9	109,881,439 (GRCm39)	missense	possibly damaging	0.91
R4577:Map4	UTSW	9	109,910,489 (GRCm39)	missense	possibly damaging	0.48
R4601:Map4	UTSW	9	109,881,887 (GRCm39)	missense	possibly damaging	0.75
R4795:Map4	UTSW	9	109,864,331 (GRCm39)	missense	probably benign	0.00
R4801:Map4	UTSW	9	109,864,325 (GRCm39)	missense	probably benign	0.15
R4802:Map4	UTSW	9	109,864,325 (GRCm39)	missense	probably benign	0.15
R4999:Map4	UTSW	9	109,867,445 (GRCm39)	intron	probably benign
R5020:Map4	UTSW	9	109,897,868 (GRCm39)	missense	probably benign	0.02
R5021:Map4	UTSW	9	109,867,157 (GRCm39)	nonsense	probably null
R5049:Map4	UTSW	9	109,908,882 (GRCm39)	nonsense	probably null
R5451:Map4	UTSW	9	109,866,851 (GRCm39)	intron	probably benign
R5452:Map4	UTSW	9	109,866,851 (GRCm39)	intron	probably benign
R5453:Map4	UTSW	9	109,866,851 (GRCm39)	intron	probably benign
R5492:Map4	UTSW	9	109,881,450 (GRCm39)	missense	possibly damaging	0.68
R5532:Map4	UTSW	9	109,863,746 (GRCm39)	missense	probably benign	0.24
R5602:Map4	UTSW	9	109,881,768 (GRCm39)	missense	possibly damaging	0.84
R5628:Map4	UTSW	9	109,910,915 (GRCm39)	missense	probably benign	0.04
R5896:Map4	UTSW	9	109,901,702 (GRCm39)	missense	possibly damaging	0.91
R6017:Map4	UTSW	9	109,863,687 (GRCm39)	missense	probably benign	0.00
R6084:Map4	UTSW	9	109,893,360 (GRCm39)	missense	probably damaging	1.00
R6294:Map4	UTSW	9	109,831,814 (GRCm39)	missense	possibly damaging	0.82
R6397:Map4	UTSW	9	109,856,784 (GRCm39)	missense	possibly damaging	0.78
R6773:Map4	UTSW	9	109,863,993 (GRCm39)	missense	probably benign	0.00
R6997:Map4	UTSW	9	109,881,982 (GRCm39)	missense	probably benign	0.35
R7141:Map4	UTSW	9	109,807,938 (GRCm39)	start codon destroyed	probably null	1.00
R7187:Map4	UTSW	9	109,882,201 (GRCm39)	missense	probably benign	0.03
R7320:Map4	UTSW	9	109,910,585 (GRCm39)	missense	probably benign	0.24
R7469:Map4	UTSW	9	109,856,865 (GRCm39)	splice site	probably null
R7479:Map4	UTSW	9	109,897,892 (GRCm39)	missense	possibly damaging	0.94
R7487:Map4	UTSW	9	109,856,783 (GRCm39)	missense	probably damaging	1.00
R7690:Map4	UTSW	9	109,828,861 (GRCm39)	missense	probably damaging	0.99
R7780:Map4	UTSW	9	109,863,720 (GRCm39)	missense	probably benign	0.00
R7998:Map4	UTSW	9	109,908,929 (GRCm39)	missense	probably damaging	1.00
R8028:Map4	UTSW	9	109,897,812 (GRCm39)	missense	probably damaging	1.00
R8557:Map4	UTSW	9	109,893,370 (GRCm39)	splice site	probably null
R8950:Map4	UTSW	9	109,901,702 (GRCm39)	missense	possibly damaging	0.91
R8972:Map4	UTSW	9	109,864,185 (GRCm39)	missense	probably benign
R9145:Map4	UTSW	9	109,855,268 (GRCm39)	missense	probably damaging	0.99
R9297:Map4	UTSW	9	109,882,480 (GRCm39)	missense	probably benign	0.02
R9332:Map4	UTSW	9	109,864,223 (GRCm39)	missense	probably benign	0.00
R9354:Map4	UTSW	9	109,897,847 (GRCm39)	missense	probably benign
R9419:Map4	UTSW	9	109,882,029 (GRCm39)	missense	possibly damaging	0.92
R9430:Map4	UTSW	9	109,863,760 (GRCm39)	missense	probably benign	0.41
R9437:Map4	UTSW	9	109,864,155 (GRCm39)	missense	possibly damaging	0.46
R9718:Map4	UTSW	9	109,901,774 (GRCm39)	critical splice donor site	probably null
Z1177:Map4	UTSW	9	109,897,591 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAACTGTCAAATGTCTTTTCCCCTG -3'
(R):5'- CCAGCATCGGTTACTTTATGAGAC -3'

Sequencing Primer
(F):5'- CCCCTGACTATTGATGACCAC -3'
(R):5'- GCATCAAGCATGTCTTTCATCACAG -3'

Posted On

2015-04-30