Mutagenetix > Incidental Mutation

Incidental Mutation 'R5412:Map10'

427540

Institutional Source

Beutler Lab

Gene Symbol

Map10

Ensembl Gene

ENSMUSG00000050930

Gene Name

microtubule-associated protein 10

Synonyms

4933403G14Rik

MMRRC Submission

042981-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5412 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125669818-125673359 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125670985 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 372 (L372F)

Ref Sequence

ENSEMBL: ENSMUSP00000061679 (fasta)

Gene Model

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

AlphaFold

Q8BJS7

Predicted Effect

probably damaging
Transcript: ENSMUST00000053078
AA Change: L372F

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

SMART Domains

Protein: ENSMUSP00000061679
Gene: ENSMUSG00000050930
AA Change: L372F

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,978,752	N36Y	probably damaging	Het
Ankfn1	T	A	11: 89,505,181	E246D	probably benign	Het
Arid1a	T	C	4: 133,719,602		probably benign	Het
Bbs7	A	T	3: 36,599,373	D300E	probably benign	Het
BC025446	A	T	15: 75,217,820	E59V	probably damaging	Het
C3	T	C	17: 57,220,187	D754G	probably benign	Het
Ccpg1	A	T	9: 73,010,306	Q240L	probably damaging	Het
Cdk13	G	A	13: 17,766,530	P650S	probably damaging	Het
Celsr2	G	T	3: 108,399,995	S1933Y	probably damaging	Het
Cep135	T	A	5: 76,616,862	H562Q	probably benign	Het
Cyp26a1	G	T	19: 37,701,182	C442F	probably damaging	Het
Dnah7a	T	C	1: 53,635,344	S425G	probably benign	Het
Espn	C	T	4: 152,128,125	V752M	probably damaging	Het
Glyr1	A	G	16: 5,036,433	S113P	possibly damaging	Het
Gm11127	C	T	17: 36,056,044	C369Y	probably benign	Het
Grk4	A	T	5: 34,745,268	Y388F	probably benign	Het
Heca	C	A	10: 17,902,296	V518F	probably damaging	Het
Hmcn2	C	T	2: 31,346,617	P391S	possibly damaging	Het
Hnrnpl	A	G	7: 28,811,104		probably benign	Het
Hsd3b2	A	G	3: 98,711,892	S246P	possibly damaging	Het
Ifna11	C	T	4: 88,820,143	P62L	probably damaging	Het
Katnal2	A	T	18: 77,002,435	V292D	probably damaging	Het
Krt16	T	A	11: 100,246,767	I371F	probably damaging	Het
Megf10	A	T	18: 57,191,147	M87L	probably damaging	Het
Ncoa6	T	C	2: 155,407,781	H1201R	possibly damaging	Het
Ndc80	C	A	17: 71,514,231	D241Y	probably damaging	Het
Ndufs1	T	C	1: 63,166,349	M94V	possibly damaging	Het
Nkx2-6	G	T	14: 69,174,746	R121L	probably damaging	Het
Nos1ap	T	A	1: 170,349,399	K145M	probably damaging	Het
Olfr2	A	G	7: 107,001,635	V75A	probably damaging	Het
Otop1	A	G	5: 38,297,984	I241V	probably benign	Het
Panx2	C	A	15: 89,068,932	P542H	possibly damaging	Het
Pcdha5	C	A	18: 36,962,457	P673Q	probably benign	Het
Pon1	A	G	6: 5,185,314	L62P	probably damaging	Het
Prdx6	A	T	1: 161,244,290	I102N	probably damaging	Het
Prkd3	T	A	17: 78,954,711	I725F	possibly damaging	Het
Selenon	T	C	4: 134,542,438	N395S	probably benign	Het
Serpinb8	G	A	1: 107,605,886	E224K	probably benign	Het
Serpinb9b	A	G	13: 33,029,513	M18V	probably benign	Het
Smc6	A	G	12: 11,285,399	E318G	possibly damaging	Het
Srrt	A	T	5: 137,296,287	Y786N	probably damaging	Het
Stk36	G	T	1: 74,605,456		probably null	Het
Stpg1	T	A	4: 135,525,475	L179Q	possibly damaging	Het
Stra8	G	A	6: 34,930,950	M1I	probably null	Het
Tiam1	G	T	16: 89,884,865	H408Q	possibly damaging	Het
Tm2d1	G	A	4: 98,365,618	T106I	probably damaging	Het
Tmem150b	A	C	7: 4,716,369	I184S	probably null	Het
Vmn1r216	A	G	13: 23,099,911	I255V	probably benign	Het
Vps13b	G	A	15: 35,533,385	A868T	probably damaging	Het
Wdr81	C	T	11: 75,450,794	D1216N	probably null	Het
Zfp26	T	C	9: 20,438,239	Y343C	possibly damaging	Het
Zfp276	A	T	8: 123,255,781	I95F	probably damaging	Het
Zfp330	T	C	8: 82,764,236	E315G	probably benign	Het
Zfp683	C	A	4: 134,054,551	P56Q	probably damaging	Het
Zpld1	T	A	16: 55,232,283	S323C	possibly 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
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
R6557:Map10	UTSW	8	125670252	missense	probably damaging	0.98
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'- CTCCCTTAAGGCCAGTGAAAC -3'
(R):5'- TGCCACCGATCTTTGGATG -3'

Sequencing Primer
(F):5'- ACATACAAGAGCTGCAGTGC -3'
(R):5'- TTAGACTGGGGATTCACCAAC -3'

Posted On

2016-09-01