Mutagenetix > Incidental Mutations

Incidental Mutation 'R6334:Map9'

510688

Institutional Source

Beutler Lab

Gene Symbol

Map9

Ensembl Gene

ENSMUSG00000033900

Gene Name

microtubule-associated protein 9

Synonyms

ASAP, 5330427D05Rik, Mtap9, 5033421J10Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.268) question?

Stock #

R6334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82358044-82395268 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82383305 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 492 (L492Q)

Ref Sequence

ENSEMBL: ENSMUSP00000141282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091014] [ENSMUST00000192595] [ENSMUST00000193559] [ENSMUST00000195471] [ENSMUST00000195640] [ENSMUST00000195793]

Predicted Effect

probably damaging
Transcript: ENSMUST00000091014
AA Change: L492Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088535
Gene: ENSMUSG00000033900
AA Change: L492Q

Domain	Start	End	E-Value	Type
low complexity region	41	52	N/A	INTRINSIC
Pfam:DUF4207	340	566	3.6e-10	PFAM
low complexity region	607	622	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192595

SMART Domains

Protein: ENSMUSP00000141828
Gene: ENSMUSG00000033900

Domain	Start	End	E-Value	Type
low complexity region	41	52	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000193559
AA Change: L492Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142014
Gene: ENSMUSG00000033900
AA Change: L492Q

Domain	Start	End	E-Value	Type
low complexity region	41	52	N/A	INTRINSIC
low complexity region	356	365	N/A	INTRINSIC
coiled coil region	476	513	N/A	INTRINSIC
low complexity region	516	537	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194622

Predicted Effect

probably damaging
Transcript: ENSMUST00000195471
AA Change: L492Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141282
Gene: ENSMUSG00000033900
AA Change: L492Q

Domain	Start	End	E-Value	Type
low complexity region	41	52	N/A	INTRINSIC
low complexity region	356	365	N/A	INTRINSIC
coiled coil region	476	513	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000195640
AA Change: L492Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142206
Gene: ENSMUSG00000033900
AA Change: L492Q

Domain	Start	End	E-Value	Type
low complexity region	41	52	N/A	INTRINSIC
Pfam:DUF4207	332	562	4.4e-11	PFAM
low complexity region	564	596	N/A	INTRINSIC
low complexity region	607	622	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000195793
AA Change: L91Q

SMART Domains

Protein: ENSMUSP00000141231
Gene: ENSMUSG00000033900
AA Change: L91Q

Domain	Start	End	E-Value	Type
low complexity region	72	90	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ASAP is a microtubule-associated protein required for spindle function, mitotic progression, and cytokinesis (Saffin et al., 2005 [PubMed 16049101]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,880,114	S141T	probably benign	Het
Afap1l2	A	G	19: 56,917,976		probably null	Het
Aox2	C	T	1: 58,307,407	Q567*	probably null	Het
Aqp4	T	A	18: 15,393,591	M278L	probably benign	Het
Atp23	A	C	10: 126,887,669	L188R	probably benign	Het
B230359F08Rik	A	G	14: 53,795,942	T103A	probably damaging	Het
Catsperg1	C	T	7: 29,206,357	G215D	probably benign	Het
Cavin4	T	C	4: 48,663,824	V68A	possibly damaging	Het
Ccl4	T	C	11: 83,662,678	S6P	unknown	Het
Cfap46	T	C	7: 139,680,831	E117G	probably damaging	Het
Chek1	A	G	9: 36,714,492	S286P	possibly damaging	Het
Cntn4	G	A	6: 106,344,786	V35I	probably benign	Het
Cntn4	C	A	6: 106,506,192	P236Q	probably benign	Het
Cyp2d40	C	A	15: 82,761,552	G84V	probably benign	Het
Dnah12	A	T	14: 26,706,834	H205L	possibly damaging	Het
Dock1	G	A	7: 134,851,576	V845I	probably benign	Het
Drg1	T	C	11: 3,266,292	K7E	possibly damaging	Het
Eloa	G	A	4: 136,009,822	P488S	probably damaging	Het
Evi5	G	A	5: 107,820,521	R187*	probably null	Het
Fam53a	T	A	5: 33,600,875	L301F	probably damaging	Het
Fmnl3	T	C	15: 99,337,653	K63E	probably damaging	Het
Gast	C	A	11: 100,336,612	Q44K	probably benign	Het
Gm4788	A	G	1: 139,773,924		probably null	Het
Gng10	T	A	4: 59,035,257	V7E	probably benign	Het
Gtf3c5	G	A	2: 28,570,462	T375I	probably benign	Het
Haus5	C	T	7: 30,658,976	W298*	probably null	Het
Hspa14	A	T	2: 3,489,072		probably null	Het
Kcna3	T	C	3: 107,036,424	M1T	probably null	Het
Kcnj15	T	G	16: 95,296,236	L239R	probably damaging	Het
Klhl2	G	T	8: 64,759,808	D232E	probably benign	Het
Lamb3	A	T	1: 193,335,474	I888F	probably damaging	Het
Lars	C	A	18: 42,217,486	M919I	probably benign	Het
Lfng	T	C	5: 140,612,767	V247A	possibly damaging	Het
Lrp1b	C	T	2: 41,789,033	A16T	probably benign	Het
Mamdc2	A	T	19: 23,363,906	I235N	probably damaging	Het
Mcpt8	A	G	14: 56,085,147	V14A	possibly damaging	Het
Myo1b	T	C	1: 51,768,651	K823R	probably null	Het
Nbea	G	T	3: 56,037,149	T598K	probably damaging	Het
Nrcam	C	A	12: 44,572,300	H877N	probably benign	Het
Nrxn2	T	C	19: 6,531,292		probably null	Het
Nwd2	A	T	5: 63,800,253	I309F	possibly damaging	Het
Phyhd1	G	A	2: 30,274,724		probably null	Het
Pkp2	C	T	16: 16,226,069	T229I	probably damaging	Het
Plagl2	G	A	2: 153,232,691	P97S	probably benign	Het
Plekhh2	C	A	17: 84,566,866	N526K	probably benign	Het
Plin4	A	G	17: 56,103,261	L1217P	probably benign	Het
Polr3e	T	C	7: 120,927,999	S67P	possibly damaging	Het
Postn	A	G	3: 54,385,282	K757E	probably benign	Het
Prpf39	T	A	12: 65,042,813		probably null	Het
Ptprg	C	T	14: 12,166,832	T745I	probably damaging	Het
Pxylp1	C	G	9: 96,825,254	A292P	probably damaging	Het
Rpl35	G	T	2: 39,001,742	D82E	possibly damaging	Het
Slc9a1	G	A	4: 133,422,208	V782I	possibly damaging	Het
Syn2	T	A	6: 115,263,914	M415K	possibly damaging	Het
Tmem117	A	C	15: 95,011,443	I246L	probably benign	Het
Tmem221	A	T	8: 71,558,784	V9E	probably damaging	Het
Ubxn7	T	A	16: 32,372,189		probably null	Het
Vmn2r101	G	T	17: 19,589,850	M299I	possibly damaging	Het
Vmn2r103	T	A	17: 19,794,082	S379T	probably damaging	Het
Vmn2r109	T	C	17: 20,541,178	N639S	probably benign	Het
Wdr26	T	C	1: 181,203,206			Het
Zfp109	T	A	7: 24,228,883	Y367F	probably damaging	Het
Zfp143	G	A	7: 110,086,131	C389Y	probably damaging	Het
Zfp553	G	T	7: 127,236,892		probably null	Het

Other mutations in Map9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Map9	APN	3	82363420	missense	probably benign	0.37
IGL01520:Map9	APN	3	82378965	missense	probably damaging	0.99
IGL02281:Map9	APN	3	82391146	missense	possibly damaging	0.53
IGL02931:Map9	APN	3	82377121	missense	possibly damaging	0.86
IGL02937:Map9	APN	3	82363512	missense	possibly damaging	0.95
IGL02985:Map9	APN	3	82359902	nonsense	probably null
IGL03113:Map9	APN	3	82359978	splice site	probably benign
R0134:Map9	UTSW	3	82359983	splice site	probably benign
R0225:Map9	UTSW	3	82359983	splice site	probably benign
R0468:Map9	UTSW	3	82374203	critical splice donor site	probably null
R1027:Map9	UTSW	3	82377094	missense	probably damaging	1.00
R1794:Map9	UTSW	3	82380221	missense	probably damaging	1.00
R4008:Map9	UTSW	3	82359083	missense	probably damaging	1.00
R5728:Map9	UTSW	3	82363335	missense	probably benign	0.00
R5905:Map9	UTSW	3	82380248	critical splice donor site	probably null
R6028:Map9	UTSW	3	82380248	critical splice donor site	probably null
R6798:Map9	UTSW	3	82380164	missense	probably damaging	1.00
R7135:Map9	UTSW	3	82363458	missense	probably benign	0.03
R7443:Map9	UTSW	3	82371356	missense	possibly damaging	0.72
R7694:Map9	UTSW	3	82358983	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TCGCTTCCTTGTATGGTAACTG -3'
(R):5'- AGTGACTCTTTTACTTGCCATGG -3'

Sequencing Primer
(F):5'- CTGAATTTATGTATAGGCTTCGACC -3'
(R):5'- GCTTTTTCTGAGATCAGCCTAAG -3'

Posted On

2018-04-02