Mutagenetix > Incidental Mutation

Incidental Mutation 'R3087:Map4'

477717

Institutional Source

Beutler Lab

Gene Symbol

Map4

Ensembl Gene

ENSMUSG00000032479

Gene Name

microtubule-associated protein 4

Synonyms

MAP 4, Mtap4

MMRRC Submission

040576-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3087 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109760528-109913023 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109882257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 374 (S374P)

Ref Sequence

ENSEMBL: ENSMUSP00000131285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035055] [ENSMUST00000164930] [ENSMUST00000165876] [ENSMUST00000199498]

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: ENSMUST00000163190

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164930
AA Change: S374P

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131285
Gene: ENSMUSG00000032479
AA Change: S374P

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: ENSMUST00000199498
AA Change: S374P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000142439
Gene: ENSMUSG00000032479
AA Change: S374P

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

97% (29/30)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aknad1	C	T	3: 108,664,179 (GRCm39)	Q381*	probably null	Het
Arhgef39	C	T	4: 43,497,581 (GRCm39)		probably null	Het
Cblif	A	T	19: 11,737,737 (GRCm39)	K383*	probably null	Het
Ccdc85a	G	T	11: 28,342,857 (GRCm39)	C113*	probably null	Het
Cdc16	T	C	8: 13,809,004 (GRCm39)	Y19H	probably damaging	Het
Ces2e	T	A	8: 105,657,347 (GRCm39)	M289K	probably benign	Het
Cyp2u1	G	A	3: 131,096,676 (GRCm39)	A34V	probably benign	Het
Dkk2	A	C	3: 131,791,900 (GRCm39)	N36T	probably damaging	Het
Fam222a	A	G	5: 114,750,015 (GRCm39)	S404G	probably damaging	Het
Fbll1	A	T	11: 35,689,017 (GRCm39)	V82E	probably damaging	Het
Flt3	A	G	5: 147,284,856 (GRCm39)	S754P	probably benign	Het
Fmo5	T	C	3: 97,549,011 (GRCm39)	W220R	probably damaging	Het
Gm7275	A	G	16: 47,894,098 (GRCm39)		noncoding transcript	Het
Gmeb2	G	T	2: 180,897,433 (GRCm39)		probably benign	Het
Ifi44l	T	C	3: 151,468,494 (GRCm39)	H12R	unknown	Het
Itsn2	T	C	12: 4,716,303 (GRCm39)	Y1021H	probably damaging	Het
Map4k4	A	T	1: 40,060,242 (GRCm39)		probably null	Het
Mast4	G	T	13: 102,990,434 (GRCm39)		probably benign	Het
Mdfic	T	A	6: 15,799,668 (GRCm39)	L265H	probably damaging	Het
Pabpc2	A	G	18: 39,907,319 (GRCm39)	I195V	probably benign	Het
Pramel25	A	G	4: 143,520,416 (GRCm39)	D56G	probably benign	Het
Prdm1	T	C	10: 44,322,823 (GRCm39)	Y224C	probably damaging	Het
Spidr	T	C	16: 15,786,483 (GRCm39)	Y420C	probably damaging	Het
Tlr6	A	T	5: 65,111,668 (GRCm39)	M413K	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vmn1r11	A	C	6: 57,114,691 (GRCm39)	K81N	possibly damaging	Het
Vmn2r107	G	A	17: 20,580,607 (GRCm39)	E515K	probably benign	Het
Vstm4	T	C	14: 32,614,592 (GRCm39)	V178A	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
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

Posted On

2017-05-15