Mutagenetix > Incidental Mutation

Incidental Mutation 'R6544:Map10'

521025

Institutional Source

Beutler Lab

Gene Symbol

Map10

Ensembl Gene

ENSMUSG00000050930

Gene Name

microtubule-associated protein 10

Synonyms

4933403G14Rik

MMRRC Submission

044670-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R6544 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126396557-126400098 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126398113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 502 (I502T)

Ref Sequence

ENSEMBL: ENSMUSP00000061679 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053078]

AlphaFold

Q8BJS7

Predicted Effect

probably benign
Transcript: ENSMUST00000053078
AA Change: I502T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000061679
Gene: ENSMUSG00000050930
AA Change: I502T

Domain	Start	End	E-Value	Type
low complexity region	38	54	N/A	INTRINSIC
low complexity region	68	91	N/A	INTRINSIC
Pfam:HPHLAWLY	243	535	1.4e-130	PFAM
Pfam:HPHLAWLY	527	890	9.1e-133	PFAM

Meta Mutation Damage Score

0.0745

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005K14Rik	T	A	1: 83,036,678 (GRCm39)	K118*	probably null	Het
Actr2	A	G	11: 20,050,933 (GRCm39)	F17L	probably damaging	Het
Adam26b	T	C	8: 43,974,818 (GRCm39)	I61M	probably damaging	Het
Ahcyl	A	C	16: 45,975,147 (GRCm39)	S77A	probably benign	Het
Ahnak2	A	G	12: 112,746,829 (GRCm39)		probably benign	Het
Angptl3	T	C	4: 98,919,675 (GRCm39)	L145P	probably damaging	Het
Ank2	T	C	3: 126,726,871 (GRCm39)	T808A	probably damaging	Het
Ark2c	T	A	18: 77,650,931 (GRCm39)		probably benign	Het
Cadm3	A	G	1: 173,194,977 (GRCm39)		probably null	Het
Cog7	C	T	7: 121,534,966 (GRCm39)	R573Q	probably damaging	Het
Dchs1	T	A	7: 105,407,385 (GRCm39)	I2110F	probably damaging	Het
Fbxo47	G	A	11: 97,747,089 (GRCm39)	R326C	probably damaging	Het
Frmpd1	A	T	4: 45,279,024 (GRCm39)	D583V	probably damaging	Het
Gigyf1	T	A	5: 137,523,321 (GRCm39)	L911Q	probably damaging	Het
Gprin1	G	A	13: 54,888,124 (GRCm39)	A50V	possibly damaging	Het
Grik4	A	T	9: 42,459,024 (GRCm39)	Y571*	probably null	Het
Gucy2e	A	G	11: 69,126,483 (GRCm39)	V299A	probably benign	Het
Hectd2	C	T	19: 36,589,728 (GRCm39)	L618F	probably damaging	Het
Lactbl1	A	T	4: 136,360,300 (GRCm39)	I160F	possibly damaging	Het
Lats1	T	A	10: 7,577,434 (GRCm39)	V186D	possibly damaging	Het
Lmtk2	A	G	5: 144,110,624 (GRCm39)	H448R	possibly damaging	Het
Mok	A	G	12: 110,777,189 (GRCm39)	F239S	probably damaging	Het
Mprip	G	A	11: 59,648,552 (GRCm39)	G752D	probably benign	Het
Naip5	C	A	13: 100,359,652 (GRCm39)	G528V	possibly damaging	Het
Neu2	T	C	1: 87,524,464 (GRCm39)	W150R	probably damaging	Het
Or1ak2	T	A	2: 36,827,539 (GRCm39)	M136K	possibly damaging	Het
Or5an1	T	C	19: 12,260,519 (GRCm39)	Y36H	probably damaging	Het
Or5as1	T	A	2: 86,980,207 (GRCm39)	Y266F	probably damaging	Het
Or5l13	T	A	2: 87,780,335 (GRCm39)	M81L	probably benign	Het
Pip5k1c	T	A	10: 81,144,830 (GRCm39)	Y224N	probably damaging	Het
Plch1	T	C	3: 63,758,399 (GRCm39)	E5G	probably damaging	Het
Pspc1	T	C	14: 57,001,660 (GRCm39)	*59W	probably null	Het
Ptprq	T	C	10: 107,444,102 (GRCm39)	T1501A	probably damaging	Het
Rorb	G	T	19: 18,929,614 (GRCm39)	P304T	possibly damaging	Het
Scn7a	A	T	2: 66,514,444 (GRCm39)	L1110Q	probably damaging	Het
Serpine2	C	T	1: 79,780,847 (GRCm39)		probably null	Het
Slco1c1	A	G	6: 141,477,170 (GRCm39)		probably null	Het
Smarca2	T	A	19: 26,608,331 (GRCm39)	V130D	probably damaging	Het
Sox17	G	T	1: 4,562,655 (GRCm39)	P117T	possibly damaging	Het
Sparcl1	A	T	5: 104,240,310 (GRCm39)	Y371*	probably null	Het
Tdpoz2	T	C	3: 93,559,267 (GRCm39)	D235G	possibly damaging	Het
Tns2	A	C	15: 102,022,269 (GRCm39)	K1182N	possibly damaging	Het
Tpte	G	T	8: 22,805,121 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,799,503 (GRCm39)	I459K	possibly damaging	Het
Wdr97	T	C	15: 76,242,478 (GRCm39)	Y823H	probably benign	Het
Zc3h15	G	A	2: 83,491,492 (GRCm39)	R240H	probably benign	Het
Zfp455	C	A	13: 67,355,121 (GRCm39)	L130I	probably benign	Het
Zfp777	A	T	6: 48,021,419 (GRCm39)	S68T	probably damaging	Het

Other mutations in Map10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00813:Map10	APN	8	126,398,671 (GRCm39)	missense	probably benign	0.00
IGL01567:Map10	APN	8	126,398,232 (GRCm39)	missense	probably benign	0.32
IGL02566:Map10	APN	8	126,398,494 (GRCm39)	missense	probably benign
IGL03088:Map10	APN	8	126,397,809 (GRCm39)	missense	probably benign	0.14
debauched	UTSW	8	126,397,984 (GRCm39)	missense	probably damaging	1.00
R1083:Map10	UTSW	8	126,397,178 (GRCm39)	nonsense	probably null
R1543:Map10	UTSW	8	126,397,611 (GRCm39)	missense	probably benign	0.00
R3155:Map10	UTSW	8	126,398,313 (GRCm39)	missense	possibly damaging	0.79
R4076:Map10	UTSW	8	126,398,584 (GRCm39)	missense	probably benign	0.23
R4559:Map10	UTSW	8	126,398,553 (GRCm39)	missense	probably benign
R4856:Map10	UTSW	8	126,397,431 (GRCm39)	missense	probably damaging	1.00
R4886:Map10	UTSW	8	126,397,431 (GRCm39)	missense	probably damaging	1.00
R5412:Map10	UTSW	8	126,397,724 (GRCm39)	missense	probably damaging	1.00
R6034:Map10	UTSW	8	126,399,205 (GRCm39)	missense	probably damaging	1.00
R6034:Map10	UTSW	8	126,399,205 (GRCm39)	missense	probably damaging	1.00
R6150:Map10	UTSW	8	126,398,328 (GRCm39)	missense	probably damaging	0.96
R6351:Map10	UTSW	8	126,397,984 (GRCm39)	missense	probably damaging	1.00
R6466:Map10	UTSW	8	126,399,123 (GRCm39)	nonsense	probably null
R6557:Map10	UTSW	8	126,396,991 (GRCm39)	missense	probably damaging	0.98
R6821:Map10	UTSW	8	126,397,138 (GRCm39)	missense	probably benign	0.01
R7096:Map10	UTSW	8	126,398,662 (GRCm39)	missense	probably damaging	0.99
R7128:Map10	UTSW	8	126,398,592 (GRCm39)	missense	probably benign
R7177:Map10	UTSW	8	126,398,584 (GRCm39)	missense	probably benign	0.23
R7237:Map10	UTSW	8	126,397,963 (GRCm39)	missense	probably benign	0.03
R7814:Map10	UTSW	8	126,398,350 (GRCm39)	missense	probably benign	0.14
R7819:Map10	UTSW	8	126,397,260 (GRCm39)	frame shift	probably null
R8202:Map10	UTSW	8	126,397,647 (GRCm39)	missense	possibly damaging	0.95
R8812:Map10	UTSW	8	126,396,664 (GRCm39)	missense	probably damaging	0.99
R8859:Map10	UTSW	8	126,397,291 (GRCm39)	missense	probably benign	0.04
R8947:Map10	UTSW	8	126,397,839 (GRCm39)	missense	probably benign	0.06
R9178:Map10	UTSW	8	126,397,649 (GRCm39)	missense	probably damaging	0.98
R9698:Map10	UTSW	8	126,398,723 (GRCm39)	missense	probably benign	0.16
Z1088:Map10	UTSW	8	126,398,670 (GRCm39)	frame shift	probably null
Z1177:Map10	UTSW	8	126,396,809 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATCCAAAGATCGGTGGCAG -3'
(R):5'- ACTCATCAAAGCCTGCCCTG -3'

Sequencing Primer
(F):5'- GATCGGTGGCAGCCCCC -3'
(R):5'- GCCCTGATTTGCATTGAAGTATCAC -3'

Posted On

2018-06-06