Mutagenetix > Incidental Mutation

Incidental Mutation 'R0496:Map4'

43939

Institutional Source

Beutler Lab

Gene Symbol

Map4

Ensembl Gene

ENSMUSG00000032479

Gene Name

microtubule-associated protein 4

Synonyms

MAP 4, Mtap4

MMRRC Submission

038692-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0496 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109760528-109913023 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 109868918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132662 (fasta)

Gene Model

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

AlphaFold

P27546

Predicted Effect

probably benign
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: ENSMUST00000061316

Predicted Effect

unknown
Transcript: ENSMUST00000163190
AA Change: R892H

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

noncoding transcript
Transcript: ENSMUST00000197902

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

98% (99/101)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,774,005 (GRCm39)	K1065E	probably damaging	Het
4933402N03Rik	T	C	7: 130,747,860 (GRCm39)	N44S	probably benign	Het
Abca13	A	G	11: 9,241,701 (GRCm39)	D1188G	probably benign	Het
Abcb11	C	T	2: 69,108,228 (GRCm39)		probably benign	Het
Abcc8	A	T	7: 45,758,244 (GRCm39)	I1274N	probably damaging	Het
Adamtsl1	G	A	4: 86,259,435 (GRCm39)	C827Y	probably damaging	Het
Agap3	T	A	5: 24,706,241 (GRCm39)	V369E	probably damaging	Het
Ankrd13b	G	A	11: 77,363,867 (GRCm39)	R195C	probably damaging	Het
Ap3b1	A	G	13: 94,609,446 (GRCm39)		probably benign	Het
Arhgef40	A	T	14: 52,242,364 (GRCm39)		probably benign	Het
Atad5	A	G	11: 79,991,182 (GRCm39)	I692V	probably benign	Het
Atp5f1b	G	T	10: 127,922,043 (GRCm39)	R310L	possibly damaging	Het
AY358078	A	T	14: 52,040,989 (GRCm39)	M103L	unknown	Het
Bcl9l	T	G	9: 44,420,815 (GRCm39)	V1370G	probably benign	Het
Bglap3	T	A	3: 88,276,444 (GRCm39)	Q38L	probably damaging	Het
Bltp1	A	G	3: 37,041,784 (GRCm39)	T2721A	probably damaging	Het
Ccn2	G	T	10: 24,473,413 (GRCm39)	M317I	possibly damaging	Het
Cd38	T	C	5: 44,026,233 (GRCm39)	F6L	probably damaging	Het
Cela3a	A	C	4: 137,131,779 (GRCm39)	V138G	probably damaging	Het
Cemip2	A	T	19: 21,774,709 (GRCm39)	N117I	possibly damaging	Het
Clvs1	T	A	4: 9,424,241 (GRCm39)	I229N	probably damaging	Het
Cpne1	G	A	2: 155,921,339 (GRCm39)	H16Y	probably damaging	Het
Ctc1	T	C	11: 68,926,333 (GRCm39)	L1069P	probably damaging	Het
Dgkd	G	A	1: 87,864,622 (GRCm39)	S996N	probably null	Het
Dnah9	A	T	11: 65,965,961 (GRCm39)	M1685K	probably null	Het
Dnajb12	C	T	10: 59,715,623 (GRCm39)	R42*	probably null	Het
Dock5	T	C	14: 68,054,967 (GRCm39)	Q633R	probably damaging	Het
Dync2h1	A	G	9: 7,155,180 (GRCm39)	M868T	probably benign	Het
Enpp1	G	T	10: 24,547,950 (GRCm39)	H208Q	probably benign	Het
Epha7	T	A	4: 28,821,292 (GRCm39)	D152E	probably damaging	Het
Fancd2	T	C	6: 113,532,091 (GRCm39)		probably benign	Het
Gart	G	A	16: 91,419,925 (GRCm39)		probably benign	Het
Gm10964	A	T	3: 103,646,745 (GRCm39)		probably null	Het
Gpbar1	T	C	1: 74,318,140 (GRCm39)	F128L	probably benign	Het
Gsx2	T	A	5: 75,237,726 (GRCm39)	M226K	probably benign	Het
Gucd1	T	C	10: 75,347,100 (GRCm39)	D50G	possibly damaging	Het
Has1	A	G	17: 18,064,008 (GRCm39)	Y544H	probably benign	Het
Hc	A	T	2: 34,903,583 (GRCm39)	Y1024N	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Ift122	T	A	6: 115,882,863 (GRCm39)	H659Q	probably benign	Het
Itga2	T	C	13: 114,990,435 (GRCm39)	Q902R	probably benign	Het
Itgb2l	T	C	16: 96,235,901 (GRCm39)	K181E	possibly damaging	Het
Jak3	A	T	8: 72,135,041 (GRCm39)	H558L	probably damaging	Het
Kcnh8	A	G	17: 53,032,886 (GRCm39)	T58A	probably benign	Het
Klhl6	GT	G	16: 19,775,716 (GRCm39)	279	probably null	Het
Krt33a	C	T	11: 99,903,155 (GRCm39)		probably benign	Het
Magi2	A	T	5: 20,866,357 (GRCm39)		probably benign	Het
Map4k4	T	A	1: 40,045,982 (GRCm39)	S754T	probably damaging	Het
Mapk8ip3	A	G	17: 25,133,424 (GRCm39)		probably benign	Het
Mib1	A	G	18: 10,804,773 (GRCm39)	S918G	probably benign	Het
Mipol1	T	A	12: 57,503,963 (GRCm39)	V377D	probably damaging	Het
Mlh1	T	C	9: 111,070,624 (GRCm39)	T364A	probably benign	Het
Mta1	C	T	12: 113,094,941 (GRCm39)	Q400*	probably null	Het
Mthfd1l	C	G	10: 4,040,006 (GRCm39)	R806G	probably benign	Het
Myh13	C	A	11: 67,239,641 (GRCm39)	N730K	probably damaging	Het
Myom1	A	G	17: 71,391,301 (GRCm39)	K937E	probably damaging	Het
Naxd	T	C	8: 11,560,224 (GRCm39)		probably benign	Het
Negr1	G	T	3: 156,721,904 (GRCm39)	K159N	probably damaging	Het
Nwd2	G	T	5: 63,963,686 (GRCm39)	W1090L	probably damaging	Het
Or1e1f	T	C	11: 73,855,706 (GRCm39)	S91P	probably benign	Het
Or2j3	A	G	17: 38,615,549 (GRCm39)	S268P	probably damaging	Het
Or51v14	C	T	7: 103,261,204 (GRCm39)	A119T	probably benign	Het
Or52r1c	T	C	7: 102,734,797 (GRCm39)	I19T	probably damaging	Het
Or5d41	A	T	2: 88,054,499 (GRCm39)	Y292*	probably null	Het
Pcsk6	G	A	7: 65,576,997 (GRCm39)	S58N	probably benign	Het
Pdzrn3	G	A	6: 101,127,531 (GRCm39)	T1045I	possibly damaging	Het
Pitrm1	T	C	13: 6,618,750 (GRCm39)	L641P	probably damaging	Het
Pkd1l1	G	T	11: 8,879,430 (GRCm39)	H474N	probably damaging	Het
Pltp	A	G	2: 164,694,381 (GRCm39)		probably benign	Het
Qtrt1	C	T	9: 21,330,844 (GRCm39)	T324M	probably benign	Het
Racgap1	A	T	15: 99,537,713 (GRCm39)		probably benign	Het
Rhbg	A	G	3: 88,161,805 (GRCm39)	V50A	probably benign	Het
Rnf135	G	A	11: 80,074,776 (GRCm39)	V12M	probably damaging	Het
Rnf7l	G	T	10: 63,257,381 (GRCm39)	C46*	probably null	Het
Rufy2	T	C	10: 62,828,949 (GRCm39)	V117A	probably damaging	Het
Safb	A	G	17: 56,912,630 (GRCm39)	M866V	probably benign	Het
Slc35c2	G	T	2: 165,122,735 (GRCm39)	T183K	probably damaging	Het
Slc39a7	A	G	17: 34,248,512 (GRCm39)	L377P	probably damaging	Het
Slit1	G	A	19: 41,596,750 (GRCm39)		probably benign	Het
Spaca9	G	A	2: 28,583,022 (GRCm39)	H133Y	probably damaging	Het
Spout1	A	G	2: 30,064,983 (GRCm39)	F339S	probably benign	Het
St6gal2	A	G	17: 55,789,015 (GRCm39)	I16M	probably damaging	Het
Stat2	T	C	10: 128,112,378 (GRCm39)	M6T	probably benign	Het
Swt1	T	A	1: 151,287,021 (GRCm39)	H157L	probably benign	Het
Syne2	A	G	12: 76,085,714 (GRCm39)	N147D	possibly damaging	Het
Tmem222	A	T	4: 133,004,902 (GRCm39)	M45K	possibly damaging	Het
Tmem30a	T	A	9: 79,684,567 (GRCm39)	H95L	probably damaging	Het
Tns3	A	C	11: 8,497,262 (GRCm39)		probably benign	Het
Trpm3	A	G	19: 22,676,142 (GRCm39)	I103V	probably benign	Het
Ube2n	T	C	10: 95,377,206 (GRCm39)	F57S	probably benign	Het
Vil1	T	C	1: 74,460,499 (GRCm39)	S219P	possibly damaging	Het
Wdfy4	A	G	14: 32,862,695 (GRCm39)		probably benign	Het
Wdr7	T	C	18: 63,924,914 (GRCm39)	S966P	probably benign	Het
Wnt8a	A	G	18: 34,677,900 (GRCm39)	N103D	probably damaging	Het
Zfp523	G	A	17: 28,419,419 (GRCm39)	E186K	possibly damaging	Het
Zfp791	A	T	8: 85,836,609 (GRCm39)	D418E	probably benign	Het
Zscan20	A	G	4: 128,485,682 (GRCm39)	V192A	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
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
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'- TGTGAAATGTTGCCCTGCCCTATTC -3'
(R):5'- AGACTCAAGTCCTGTTGCTGATGTG -3'

Sequencing Primer
(F):5'- TGCCCTATTCCTCAAGTAGGAAAG -3'
(R):5'- TGTGACTTCACATGACAGACTAGC -3'

Posted On

2013-05-29