Mutagenetix > Incidental Mutation

Incidental Mutation 'R6557:Map10'

521903

Institutional Source

Beutler Lab

Gene Symbol

Map10

Ensembl Gene

ENSMUSG00000050930

Gene Name

microtubule-associated protein 10

Synonyms

4933403G14Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R6557 (G1)

Quality Score

213.009

Status

Not validated

Chromosome

Chromosomal Location

125669818-125673359 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125670252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 128 (V128A)

Ref Sequence

ENSEMBL: ENSMUSP00000061679 (fasta)

Gene Model

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

AlphaFold

Q8BJS7

Predicted Effect

probably damaging
Transcript: ENSMUST00000053078
AA Change: V128A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061679
Gene: ENSMUSG00000050930
AA Change: V128A

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

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cxcl15	C	T	5: 90,794,566		probably benign	Het
Dysf	A	G	6: 84,186,384	D1580G	probably damaging	Het
Gpc5	A	T	14: 115,092,534		probably benign	Het
Greb1	T	C	12: 16,710,383	I575V	probably benign	Het
Hecw1	T	C	13: 14,316,646	E174G	possibly damaging	Het
Hip1	T	C	5: 135,428,719	D300G	possibly damaging	Het
Ica1l	T	C	1: 59,997,625	T336A	probably benign	Het
Ikzf3	C	T	11: 98,516,881	A45T	probably benign	Het
Krtap16-1	T	C	11: 99,985,130	S483G	possibly damaging	Het
Lamb2	T	C	9: 108,488,400	L1394P	probably damaging	Het
Liph	T	A	16: 21,983,920	E133V	possibly damaging	Het
Mamdc2	A	G	19: 23,310,845	S610P	possibly damaging	Het
Mon2	C	A	10: 123,016,402	C1022F	probably damaging	Het
Nfatc3	T	C	8: 106,119,354	S1039P	probably benign	Het
Nov	A	T	15: 54,747,927	R153*	probably null	Het
Olfr1275	T	C	2: 111,231,631	H54R	probably benign	Het
Scaper	T	C	9: 55,550,850	N879S	probably benign	Het
Sec24d	T	C	3: 123,343,087	Y490H	probably damaging	Het
Tdrd5	T	C	1: 156,300,721	K137R	probably benign	Het
Topaz1	A	G	9: 122,748,895	N290S	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Zfp638	C	A	6: 83,930,110	P419Q	probably damaging	Het
Zzz3	T	A	3: 152,428,460	L385Q	probably damaging	Het

Other mutations in Map10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00813:Map10	APN	8	125671932	missense	probably benign	0.00
IGL01567:Map10	APN	8	125671493	missense	probably benign	0.32
IGL02566:Map10	APN	8	125671755	missense	probably benign
IGL03088:Map10	APN	8	125671070	missense	probably benign	0.14
debauched	UTSW	8	125671245	missense	probably damaging	1.00
R1083:Map10	UTSW	8	125670439	nonsense	probably null
R1543:Map10	UTSW	8	125670872	missense	probably benign	0.00
R3155:Map10	UTSW	8	125671574	missense	possibly damaging	0.79
R4076:Map10	UTSW	8	125671845	missense	probably benign	0.23
R4559:Map10	UTSW	8	125671814	missense	probably benign
R4856:Map10	UTSW	8	125670692	missense	probably damaging	1.00
R4886:Map10	UTSW	8	125670692	missense	probably damaging	1.00
R5412:Map10	UTSW	8	125670985	missense	probably damaging	1.00
R6034:Map10	UTSW	8	125672466	missense	probably damaging	1.00
R6034:Map10	UTSW	8	125672466	missense	probably damaging	1.00
R6150:Map10	UTSW	8	125671589	missense	probably damaging	0.96
R6351:Map10	UTSW	8	125671245	missense	probably damaging	1.00
R6466:Map10	UTSW	8	125672384	nonsense	probably null
R6544:Map10	UTSW	8	125671374	missense	probably benign	0.00
R6821:Map10	UTSW	8	125670399	missense	probably benign	0.01
R7096:Map10	UTSW	8	125671923	missense	probably damaging	0.99
R7128:Map10	UTSW	8	125671853	missense	probably benign
R7177:Map10	UTSW	8	125671845	missense	probably benign	0.23
R7237:Map10	UTSW	8	125671224	missense	probably benign	0.03
R7814:Map10	UTSW	8	125671611	missense	probably benign	0.14
R7819:Map10	UTSW	8	125670521	frame shift	probably null
R8202:Map10	UTSW	8	125670908	missense	possibly damaging	0.95
R8812:Map10	UTSW	8	125669925	missense	probably damaging	0.99
R8859:Map10	UTSW	8	125670552	missense	probably benign	0.04
R8947:Map10	UTSW	8	125671100	missense	probably benign	0.06
R9178:Map10	UTSW	8	125670910	missense	probably damaging	0.98
Z1088:Map10	UTSW	8	125671931	frame shift	probably null
Z1177:Map10	UTSW	8	125670070	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTCAAGTCTCGCGAGGG -3'
(R):5'- CAGAGATGCCTTTGGTGCATG -3'

Sequencing Primer
(F):5'- GCTCTTCTCGCTGGAGCTG -3'
(R):5'- TGCATGGCTTCGAGGTCTCC -3'

Posted On

2018-06-06