Mutagenetix > Incidental Mutation

Incidental Mutation 'R9145:Map4'

694575

Institutional Source

Beutler Lab

Gene Symbol

Map4

Ensembl Gene

ENSMUSG00000032479

Gene Name

microtubule-associated protein 4

Synonyms

Mtap4, MAP 4

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9145 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109931460-110083955 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110026200 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 131 (Q131L)

Ref Sequence

ENSEMBL: ENSMUSP00000035055 (fasta)

Gene Model

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

AlphaFold

P27546

Predicted Effect

probably damaging
Transcript: ENSMUST00000035055
AA Change: Q131L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035055
Gene: ENSMUSG00000032479
AA Change: Q131L

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: Q131L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000132662
Gene: ENSMUSG00000032479
AA Change: Q131L

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,559,069	H720L	probably benign	Het
Abca15	T	C	7: 120,388,165	Y1225H	probably benign	Het
Adck1	C	A	12: 88,368,423	N26K	probably benign	Het
Adcy3	A	G	12: 4,195,208	D382G	probably damaging	Het
Ahi1	T	A	10: 21,000,589	C800S	probably benign	Het
Ahnak	G	T	19: 9,014,923	V4524L	probably benign	Het
Apol11a	C	T	15: 77,513,578	A43V	probably benign	Het
Arid1a	T	C	4: 133,693,903	M479V	unknown	Het
Atp13a2	T	A	4: 140,996,745	C324S	probably damaging	Het
C2cd2	T	G	16: 97,876,286	T413P	probably damaging	Het
Cct5	A	C	15: 31,590,961	D531E		Het
Chst1	A	T	2: 92,614,178	I332F	probably damaging	Het
Col12a1	A	T	9: 79,620,062	V2662D	probably benign	Het
Cts3	A	G	13: 61,564,986	Y307H	probably benign	Het
D630023F18Rik	G	A	1: 65,121,212		probably benign	Het
Dhx9	A	G	1: 153,461,080	I807T	probably damaging	Het
Doxl2	C	A	6: 48,975,956	R272S	probably benign	Het
Exoc3l4	T	C	12: 111,422,152	L25P	probably benign	Het
Ggcx	T	A	6: 72,425,922	C288S	probably benign	Het
Gjb3	A	G	4: 127,326,347	Y131H	probably damaging	Het
Hdhd3	A	G	4: 62,499,337	S201P	probably benign	Het
Helz2	A	T	2: 181,240,055	V315E	probably damaging	Het
Hsp90aa1	A	G	12: 110,696,250		probably null	Het
Il12a	C	T	3: 68,691,542	R19W	unknown	Het
Isoc1	C	T	18: 58,673,275	A219V	possibly damaging	Het
Jup	T	A	11: 100,378,298	T430S	probably benign	Het
Klra5	C	T	6: 129,909,948	C39Y	probably benign	Het
Mau2	T	A	8: 70,027,515	K314M	probably damaging	Het
Mga	A	G	2: 119,964,012	M2726V	probably benign	Het
Mgme1	G	A	2: 144,272,485		probably null	Het
Msrb2	A	G	2: 19,394,255	E143G	probably benign	Het
Muc5b	G	T	7: 141,857,613	C1432F	unknown	Het
Naglu	T	C	11: 101,071,114	Y138H	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nlrp1b	A	G	11: 71,218,367	Y103H	probably benign	Het
Nodal	A	G	10: 61,423,680	N299D	probably damaging	Het
Notch1	T	C	2: 26,459,575	T2518A	probably benign	Het
Nr2e1	A	C	10: 42,572,952	S97A	probably benign	Het
Nuak1	A	T	10: 84,374,723	S500R	probably benign	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Nyap1	T	C	5: 137,737,913	E104G	probably benign	Het
Olfr401	C	T	11: 74,121,700	T137I	probably benign	Het
Olfr670	T	A	7: 104,959,997	H245L	probably damaging	Het
Palld	T	C	8: 61,877,073	T257A	probably benign	Het
Pcnx4	C	T	12: 72,556,269	P435L	probably damaging	Het
Piezo1	T	C	8: 122,482,014	T2538A	unknown	Het
Plagl1	T	C	10: 13,128,128	L380P	unknown	Het
Polrmt	G	T	10: 79,740,581	Q514K	probably benign	Het
Psg17	T	G	7: 18,819,926	D133A	probably benign	Het
Rab3b	G	A	4: 108,940,706	D185N	probably benign	Het
Ranbp2	T	A	10: 58,455,914	S248T	probably benign	Het
Rdh10	C	A	1: 16,129,206	A212D	probably damaging	Het
Rinl	A	G	7: 28,795,664	H154R		Het
Selenbp1	T	C	3: 94,944,103	M389T	probably benign	Het
Serpina1c	T	A	12: 103,896,141	H305L	possibly damaging	Het
Sh3rf2	T	A	18: 42,149,681	S467T		Het
Sipa1l1	A	G	12: 82,396,561	D875G	probably benign	Het
Slc10a6	A	T	5: 103,628,934	V100D	probably damaging	Het
Slc13a4	T	C	6: 35,270,355	I577V	possibly damaging	Het
Slc20a2	T	C	8: 22,540,431	F168L	probably benign	Het
Slc25a1	A	T	16: 17,927,244		probably null	Het
Slc5a12	A	G	2: 110,640,897	S495G	probably benign	Het
Smpdl3a	A	G	10: 57,800,932	D42G	possibly damaging	Het
Spag16	G	C	1: 70,381,300	L482F	probably damaging	Het
Susd5	G	A	9: 114,096,221	G391R	probably damaging	Het
Sync	G	T	4: 129,293,825	A217S		Het
Tha1	T	A	11: 117,868,686	N326Y	probably damaging	Het
Tjp1	A	T	7: 65,302,816	F1590Y	probably benign	Het
Tle4	T	C	19: 14,468,219	N221S	probably benign	Het
Tln1	T	C	4: 43,536,024	T2054A	probably damaging	Het
Ttc30a1	A	T	2: 75,980,079	Y553*	probably null	Het
Ttll4	A	G	1: 74,679,790	K267E	probably benign	Het
Usp32	C	T	11: 85,022,292	G930D	probably damaging	Het
Vmn2r75	T	C	7: 86,164,239	N452D	probably damaging	Het
Vmn2r81	T	C	10: 79,268,194	L217P	possibly damaging	Het
Wnt2	T	A	6: 18,030,398		probably benign	Het
Zfp459	C	T	13: 67,408,616	S116N	probably benign	Het
Zfp981	C	A	4: 146,537,953	T445N	possibly damaging	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
R1735:Map4	UTSW	9	110034955	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
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
R9718:Map4	UTSW	9	110072706	critical splice donor site	probably null
Z1177:Map4	UTSW	9	110068523	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCATTCTTGACCAGGGAGTACC -3'
(R):5'- TAATGTTGAGTGCTTCTAAGGAAGG -3'

Sequencing Primer
(F):5'- TGCTAATCTCAGCATTCCAGGAGG -3'
(R):5'- CCCTGTAATTGCAGCTTGTTGAAAG -3'

Posted On

2022-01-20