Mutagenetix > Incidental Mutation

Incidental Mutation 'R0864:Map4'

82255

Institutional Source

Beutler Lab

Gene Symbol

Map4

Ensembl Gene

ENSMUSG00000032479

Gene Name

microtubule-associated protein 4

Synonyms

MAP 4, Mtap4

MMRRC Submission

039038-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0864 (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 109808037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 34 (Y34C)

Ref Sequence

ENSEMBL: ENSMUSP00000132662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035055] [ENSMUST00000165876] [ENSMUST00000169851]

AlphaFold

P27546

Predicted Effect

probably damaging
Transcript: ENSMUST00000035055
AA Change: Y34C

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

SMART Domains

Protein: ENSMUSP00000035055
Gene: ENSMUSG00000032479
AA Change: Y34C

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 damaging
Transcript: ENSMUST00000165876
AA Change: Y34C

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

SMART Domains

Protein: ENSMUSP00000132662
Gene: ENSMUSG00000032479
AA Change: Y34C

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 damaging
Transcript: ENSMUST00000169851
AA Change: Y34C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197289

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 97.3%
20x: 93.8%

Validation Efficiency

93% (39/42)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	G	2: 48,784,798 (GRCm39)		probably benign	Het
Alx4	A	G	2: 93,473,200 (GRCm39)	Y66C	probably damaging	Het
Apol7e	T	A	15: 77,601,993 (GRCm39)	V197E	probably damaging	Het
Chac1	C	A	2: 119,183,950 (GRCm39)	A184E	probably damaging	Het
Clmn	G	A	12: 104,756,274 (GRCm39)	T192I	possibly damaging	Het
Csmd1	T	A	8: 16,240,040 (GRCm39)	Y1124F	probably damaging	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
D430041D05Rik	G	A	2: 104,060,773 (GRCm39)	P1374S	possibly damaging	Het
Dyrk4	T	C	6: 126,854,296 (GRCm39)	E499G	possibly damaging	Het
Fat1	T	A	8: 45,471,074 (GRCm39)	I1603N	probably damaging	Het
Fbn1	A	T	2: 125,184,811 (GRCm39)	C1660*	probably null	Het
Gapt	G	C	13: 110,490,273 (GRCm39)	T130R	probably damaging	Het
Hpn	T	C	7: 30,808,426 (GRCm39)	I41V	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Mapk8	C	T	14: 33,114,949 (GRCm39)	R189H	probably damaging	Het
Mprip	T	C	11: 59,649,587 (GRCm39)	V1097A	probably benign	Het
Msh2	A	G	17: 87,987,480 (GRCm39)	T207A	probably benign	Het
Muc4	A	G	16: 32,570,820 (GRCm39)	S627G	probably benign	Het
Nbeal2	G	A	9: 110,457,263 (GRCm39)	T2266I	probably damaging	Het
Pdcd6ip	A	T	9: 113,503,578 (GRCm39)		probably benign	Het
Pdk2	A	G	11: 94,918,759 (GRCm39)	Y339H	probably damaging	Het
Piwil2	T	C	14: 70,632,823 (GRCm39)	D583G	probably benign	Het
Plin4	T	A	17: 56,410,966 (GRCm39)	M1022L	probably benign	Het
Pmpca	G	A	2: 26,283,221 (GRCm39)		probably null	Het
Rbbp4	G	T	4: 129,214,344 (GRCm39)		probably benign	Het
Rbbp8	G	A	18: 11,865,241 (GRCm39)		probably benign	Het
Rbms3	A	T	9: 117,458,860 (GRCm39)		probably benign	Het
Snx14	A	T	9: 88,266,049 (GRCm39)	S726T	possibly damaging	Het
Supt4a	T	A	11: 87,633,913 (GRCm39)	S88T	probably benign	Het
Tmem245	G	T	4: 56,890,837 (GRCm39)	H321Q	probably damaging	Het
Trim43c	A	T	9: 88,725,087 (GRCm39)	H202L	probably benign	Het
Trip12	A	G	1: 84,721,730 (GRCm39)	F1334S	probably damaging	Het
Vmn1r36	T	C	6: 66,693,840 (GRCm39)	T12A	probably null	Het
Ywhae	T	G	11: 75,650,256 (GRCm39)		probably null	Het
Zc3h4	T	A	7: 16,154,104 (GRCm39)	S131T	probably damaging	Het
Zfp280b	C	T	10: 75,874,139 (GRCm39)	T6M	probably benign	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
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
R4036:Map4	UTSW	9	109,861,283 (GRCm39)	missense	possibly damaging	0.47
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'- AATTGTGTCGGCCACAGTGGTG -3'
(R):5'- ATCAGAACCTCAGCGGTGACAAGC -3'

Sequencing Primer
(F):5'- CTTGAAAACAACTGATGAGAGGCTC -3'
(R):5'- GCGGTGACAAGCCATGAC -3'

Posted On

2013-11-08