Mutagenetix > Incidental Mutation

Incidental Mutation 'R8957:Map9'

682078

Institutional Source

Beutler Lab

Gene Symbol

Map9

Ensembl Gene

ENSMUSG00000033900

Gene Name

microtubule-associated protein 9

Synonyms

ASAP, 5330427D05Rik, 5033421J10Rik, Mtap9

MMRRC Submission

068793-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.374) question?

Stock #

R8957 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82265379-82302575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82278687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 229 (Y229C)

Ref Sequence

ENSEMBL: ENSMUSP00000142206 (fasta)

Gene Model

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

AlphaFold

Q3TRR0

Predicted Effect

probably benign
Transcript: ENSMUST00000091014
AA Change: Y229C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088535
Gene: ENSMUSG00000033900
AA Change: Y229C

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
AA Change: Y229C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141828
Gene: ENSMUSG00000033900
AA Change: Y229C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000193559
AA Change: Y229C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142014
Gene: ENSMUSG00000033900
AA Change: Y229C

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

probably benign
Transcript: ENSMUST00000195471
AA Change: Y229C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141282
Gene: ENSMUSG00000033900
AA Change: Y229C

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 benign
Transcript: ENSMUST00000195640
AA Change: Y229C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142206
Gene: ENSMUSG00000033900
AA Change: Y229C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (66/66)

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
1500011B03Rik	A	G	5: 114,951,891 (GRCm39)	V28A	probably benign	Het
Abca12	T	A	1: 71,360,784 (GRCm39)	D503V	possibly damaging	Het
Aco2	A	T	15: 81,773,701 (GRCm39)		probably benign	Het
Aff1	A	G	5: 103,981,634 (GRCm39)	Q591R	possibly damaging	Het
Ankle2	G	A	5: 110,379,121 (GRCm39)	A7T	possibly damaging	Het
Ankrd12	T	C	17: 66,291,491 (GRCm39)	N1314S	probably benign	Het
Apeh	A	T	9: 107,969,572 (GRCm39)	M216K	probably benign	Het
Armh1	T	C	4: 117,087,104 (GRCm39)	Y187C	probably damaging	Het
Ascc3	C	A	10: 50,576,208 (GRCm39)	A821E	probably damaging	Het
Atf7ip	A	G	6: 136,543,701 (GRCm39)	D650G	probably null	Het
Cav1	T	A	6: 17,339,235 (GRCm39)	F107I	probably benign	Het
Ccdc146	A	G	5: 21,514,585 (GRCm39)		probably benign	Het
Ccdc57	A	G	11: 120,776,861 (GRCm39)	I513T	probably benign	Het
Ccrl2	T	C	9: 110,884,557 (GRCm39)	R314G	probably benign	Het
Cd1d1	T	C	3: 86,906,140 (GRCm39)	D45G	probably damaging	Het
Cfap74	G	A	4: 155,521,187 (GRCm39)	E620K		Het
Col4a1	T	A	8: 11,295,906 (GRCm39)		probably benign	Het
Cux2	C	T	5: 121,999,011 (GRCm39)	G1310R	probably benign	Het
Cyld	G	T	8: 89,432,410 (GRCm39)	R136L	probably damaging	Het
Cyp4v3	A	T	8: 45,760,018 (GRCm39)	N511K	probably benign	Het
Dchs2	G	A	3: 83,189,573 (GRCm39)	V1646M		Het
Des	A	T	1: 75,340,295 (GRCm39)	I401F	probably damaging	Het
Dis3	T	C	14: 99,337,027 (GRCm39)	D28G	probably damaging	Het
Dnai4	T	C	4: 102,953,950 (GRCm39)	D83G	probably damaging	Het
Ehd1	A	G	19: 6,344,439 (GRCm39)	Y233C	probably damaging	Het
Fcrlb	G	A	1: 170,735,536 (GRCm39)	A246V	probably benign	Het
Firrm	C	T	1: 163,792,335 (GRCm39)	R554H	probably damaging	Het
Fnta	T	C	8: 26,489,541 (GRCm39)	R357G	probably benign	Het
Fpgs	T	C	2: 32,575,354 (GRCm39)	D420G	probably damaging	Het
Hdac4	T	C	1: 91,873,757 (GRCm39)		probably null	Het
Hdhd5	C	T	6: 120,495,404 (GRCm39)		probably null	Het
Iqgap2	G	A	13: 95,772,154 (GRCm39)	R1342C	probably damaging	Het
Isyna1	T	G	8: 71,049,372 (GRCm39)	L428R	probably damaging	Het
Jmjd4	C	T	11: 59,340,884 (GRCm39)		probably benign	Het
Klra1	A	G	6: 130,357,609 (GRCm39)	V6A	possibly damaging	Het
Klrb1b	T	A	6: 128,795,522 (GRCm39)	K124N	probably benign	Het
Krtap19-3	T	C	16: 88,674,833 (GRCm39)		probably benign	Het
Lrrc74b	T	C	16: 17,378,976 (GRCm39)	T34A	probably benign	Het
Mmp28	T	C	11: 83,334,636 (GRCm39)	I373V	possibly damaging	Het
Mpdz	A	T	4: 81,251,216 (GRCm39)	Y1086*	probably null	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Myh4	A	G	11: 67,141,780 (GRCm39)	K880E	possibly damaging	Het
Nav2	T	G	7: 49,220,964 (GRCm39)	V1656G	probably damaging	Het
Or12d13	A	G	17: 37,647,382 (GRCm39)	V247A	probably damaging	Het
Or1a1	T	A	11: 74,086,772 (GRCm39)	S148T	probably damaging	Het
Or5b101	T	A	19: 13,004,881 (GRCm39)	I271F	probably benign	Het
Pate2	T	C	9: 35,596,911 (GRCm39)	W100R	probably benign	Het
Pcdhb11	A	C	18: 37,554,692 (GRCm39)	K7N	probably benign	Het
Pcdhb11	A	G	18: 37,555,872 (GRCm39)	T401A	probably benign	Het
Pgam1	T	A	19: 41,905,215 (GRCm39)	I183N	possibly damaging	Het
Pou5f1	T	G	17: 35,821,366 (GRCm39)	L326R	possibly damaging	Het
Rbm34	A	C	8: 127,692,208 (GRCm39)	V178G	probably benign	Het
Rc3h2	A	G	2: 37,289,660 (GRCm39)	V384A	possibly damaging	Het
Sec62	T	A	3: 30,864,671 (GRCm39)	F178L	unknown	Het
Slco1a6	T	C	6: 142,091,493 (GRCm39)	N69S	probably damaging	Het
Smok2b	T	A	17: 13,453,873 (GRCm39)	L11Q	probably damaging	Het
Snai2	T	C	16: 14,526,113 (GRCm39)	S255P	probably damaging	Het
Spata31h1	A	G	10: 82,124,908 (GRCm39)	Y2701H	probably benign	Het
Tesk2	T	A	4: 116,659,910 (GRCm39)	F343I	probably benign	Het
Tmem106c	A	T	15: 97,867,481 (GRCm39)	I222F	probably benign	Het
Tmub1	G	T	5: 24,651,775 (GRCm39)	T63K	probably benign	Het
Tnip3	A	G	6: 65,582,843 (GRCm39)	T217A	probably benign	Het
Vmn2r10	T	G	5: 109,149,780 (GRCm39)	K421N	possibly damaging	Het
Zfp975	A	T	7: 42,311,157 (GRCm39)	H485Q	probably damaging	Het

Other mutations in Map9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Map9	APN	3	82,270,727 (GRCm39)	missense	probably benign	0.37
IGL01520:Map9	APN	3	82,286,272 (GRCm39)	missense	probably damaging	0.99
IGL02281:Map9	APN	3	82,298,453 (GRCm39)	missense	possibly damaging	0.53
IGL02931:Map9	APN	3	82,284,428 (GRCm39)	missense	possibly damaging	0.86
IGL02937:Map9	APN	3	82,270,819 (GRCm39)	missense	possibly damaging	0.95
IGL02985:Map9	APN	3	82,267,209 (GRCm39)	nonsense	probably null
IGL03113:Map9	APN	3	82,267,285 (GRCm39)	splice site	probably benign
R0134:Map9	UTSW	3	82,267,290 (GRCm39)	splice site	probably benign
R0225:Map9	UTSW	3	82,267,290 (GRCm39)	splice site	probably benign
R0468:Map9	UTSW	3	82,281,510 (GRCm39)	critical splice donor site	probably null
R1027:Map9	UTSW	3	82,284,401 (GRCm39)	missense	probably damaging	1.00
R1794:Map9	UTSW	3	82,287,528 (GRCm39)	missense	probably damaging	1.00
R4008:Map9	UTSW	3	82,266,390 (GRCm39)	missense	probably damaging	1.00
R5728:Map9	UTSW	3	82,270,642 (GRCm39)	missense	probably benign	0.00
R5905:Map9	UTSW	3	82,287,555 (GRCm39)	critical splice donor site	probably null
R6028:Map9	UTSW	3	82,287,555 (GRCm39)	critical splice donor site	probably null
R6334:Map9	UTSW	3	82,290,612 (GRCm39)	missense	probably damaging	1.00
R6798:Map9	UTSW	3	82,287,471 (GRCm39)	missense	probably damaging	1.00
R7135:Map9	UTSW	3	82,270,765 (GRCm39)	missense	probably benign	0.03
R7443:Map9	UTSW	3	82,278,663 (GRCm39)	missense	possibly damaging	0.72
R7694:Map9	UTSW	3	82,266,290 (GRCm39)	start gained	probably benign
R8224:Map9	UTSW	3	82,266,370 (GRCm39)	missense	probably benign	0.33
R8237:Map9	UTSW	3	82,284,467 (GRCm39)	missense	probably damaging	0.97
R8395:Map9	UTSW	3	82,289,276 (GRCm39)	missense	probably benign	0.06
R8504:Map9	UTSW	3	82,284,476 (GRCm39)	critical splice donor site	probably null
R8696:Map9	UTSW	3	82,270,668 (GRCm39)	missense	possibly damaging	0.53
R8818:Map9	UTSW	3	82,291,270 (GRCm39)	missense	possibly damaging	0.86
R9044:Map9	UTSW	3	82,287,525 (GRCm39)	missense	possibly damaging	0.92
R9266:Map9	UTSW	3	82,278,594 (GRCm39)	missense	possibly damaging	0.48
R9695:Map9	UTSW	3	82,284,292 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- GATGCAGATGGCCACTTTAAGC -3'
(R):5'- GTGGCGTGTAAAACCATGCTAC -3'

Sequencing Primer
(F):5'- GGCCACTTTAAGCCTTCACC -3'
(R):5'- GCTACCTACATCTTCAGTTAAGGG -3'

Posted On

2021-08-31