Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03155:Mast3'

411222

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mast3

Ensembl Gene

ENSMUSG00000031833

Gene Name

microtubule associated serine/threonine kinase 3

Synonyms

Accession Numbers

Ncbi RefSeq: NM_199308.2. MGI:2683541

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03155

Quality Score

Status

Chromosome

Chromosomal Location

70778117-70805054 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70789217 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 107 (S107P)

Ref Sequence

ENSEMBL: ENSMUSP00000148686 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166004] [ENSMUST00000211948] [ENSMUST00000212001] [ENSMUST00000212038] [ENSMUST00000212551] [ENSMUST00000212673] [ENSMUST00000212757] [ENSMUST00000212875]

Predicted Effect

probably damaging
Transcript: ENSMUST00000166004
AA Change: S123P

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

SMART Domains

Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833
AA Change: S123P

Domain	Start	End	E-Value	Type
low complexity region	43	59	N/A	INTRINSIC
Pfam:DUF1908	64	337	4.4e-128	PFAM
S_TKc	373	646	2.77e-99	SMART
S_TK_X	647	710	2.39e-1	SMART
low complexity region	820	833	N/A	INTRINSIC
low complexity region	910	942	N/A	INTRINSIC
PDZ	958	1038	3.8e-15	SMART
low complexity region	1053	1074	N/A	INTRINSIC
low complexity region	1089	1121	N/A	INTRINSIC
low complexity region	1124	1150	N/A	INTRINSIC
low complexity region	1180	1204	N/A	INTRINSIC
low complexity region	1231	1248	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211841

Predicted Effect

probably damaging
Transcript: ENSMUST00000211948
AA Change: S107P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212001

Predicted Effect

probably damaging
Transcript: ENSMUST00000212038
AA Change: S106P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000212551

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212673
AA Change: S86P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212757
AA Change: S125P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212875
AA Change: S100P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(1) Gene trapped(1)

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	C	T	2: 131,546,081	R518H	probably benign	Het
Akr7a5	T	A	4: 139,314,526	C190*	probably null	Het
Cct2	A	T	10: 117,060,671	L209Q	probably damaging	Het
Chordc1	T	A	9: 18,304,320	S123T	possibly damaging	Het
Crtap	T	C	9: 114,380,049	D309G	possibly damaging	Het
Csf2	T	C	11: 54,247,671	T115A	possibly damaging	Het
Dgkb	T	A	12: 38,139,459	I287N	probably damaging	Het
Dyrk1b	G	A	7: 28,182,687	D98N	probably benign	Het
Eif4g1	T	C	16: 20,692,417	S1550P	probably damaging	Het
Fam83e	A	G	7: 45,727,075	E404G	possibly damaging	Het
Fryl	G	A	5: 73,076,695	P1496S	probably benign	Het
Fsip1	A	T	2: 118,251,739	N71K	probably benign	Het
Gm5092	A	T	17: 21,094,708		noncoding transcript	Het
Gnb1l	T	A	16: 18,540,532		probably null	Het
Got1l1	T	C	8: 27,199,332	Y233C	probably damaging	Het
Katnbl1	T	A	2: 112,409,232		probably null	Het
Kcnn2	A	G	18: 45,685,315	E493G	probably damaging	Het
Kif26b	C	T	1: 178,874,128	R691W	probably damaging	Het
Lrp2	A	T	2: 69,455,452		probably benign	Het
Mrc1	A	G	2: 14,331,101	N1433D	probably benign	Het
Mycbp2	G	A	14: 103,155,453	S3114L	probably benign	Het
Naip6	T	A	13: 100,316,424	H43L	possibly damaging	Het
Nin	A	T	12: 70,031,770	C1681S	probably damaging	Het
Nnmt	C	T	9: 48,592,052	V225M	probably damaging	Het
Olfr1233	A	T	2: 89,339,966	M112K	probably damaging	Het
Olfr694	A	T	7: 106,689,239	M164K	probably damaging	Het
Phf21a	T	G	2: 92,320,266	V64G	probably damaging	Het
Ptprd	A	T	4: 76,066,219	S800R	possibly damaging	Het
Scarf2	C	T	16: 17,807,549	P823S	probably benign	Het
Scn5a	T	C	9: 119,512,182	T1212A	possibly damaging	Het
Slc38a10	C	T	11: 120,105,119	V1043I	probably damaging	Het
Stxbp5	A	T	10: 9,816,290	L370Q	probably null	Het
Tas1r2	T	C	4: 139,669,156	V602A	possibly damaging	Het
Tatdn1	T	C	15: 58,916,196		probably benign	Het
Tdrd6	A	T	17: 43,625,507	L1550Q	probably damaging	Het
Tet3	G	T	6: 83,368,383	R1556S	probably damaging	Het
Tnpo2	T	A	8: 85,045,080	I249N	probably benign	Het
Tnxb	G	T	17: 34,713,595	V2263F	probably damaging	Het
Trim75	C	T	8: 64,983,340	V153M	possibly damaging	Het
Ttc21a	T	A	9: 119,943,976		probably null	Het
Tuft1	T	A	3: 94,634,514	I61L	possibly damaging	Het
Usp43	T	C	11: 67,876,489	D680G	probably damaging	Het
Vac14	A	G	8: 110,636,343	I274V	possibly damaging	Het
Vmn1r222	T	A	13: 23,232,693	R117W	probably damaging	Het
Vmn1r83	T	C	7: 12,321,690	M147V	probably benign	Het
Vmn2r43	T	A	7: 8,255,069	I382L	possibly damaging	Het
Vmn2r63	C	T	7: 42,903,454	V793I	probably damaging	Het
Vopp1	A	G	6: 57,762,507	Y19H	possibly damaging	Het
Yeats2	T	C	16: 20,229,573		probably null	Het

Other mutations in Mast3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Mast3	APN	8	70780683	splice site	probably benign
IGL01411:Mast3	APN	8	70779583	missense	possibly damaging	0.50
IGL01475:Mast3	APN	8	70779530	missense	probably damaging	1.00
IGL01886:Mast3	APN	8	70782139	missense	possibly damaging	0.94
IGL02104:Mast3	APN	8	70787906	missense	possibly damaging	0.78
IGL02236:Mast3	APN	8	70789244	missense	probably benign	0.36
IGL02437:Mast3	APN	8	70780558	missense	possibly damaging	0.79
IGL02704:Mast3	APN	8	70786875	missense	probably damaging	1.00
IGL03366:Mast3	APN	8	70781563	nonsense	probably null
gravy	UTSW	8	70786635	missense	probably damaging	1.00
stuffing	UTSW	8	70784797	frame shift	probably null
turkey	UTSW	8	70785482	missense	probably damaging	1.00
BB010:Mast3	UTSW	8	70786635	missense	probably damaging	1.00
BB020:Mast3	UTSW	8	70786635	missense	probably damaging	1.00
R0037:Mast3	UTSW	8	70783699	critical splice donor site	probably null
R0280:Mast3	UTSW	8	70783795	missense	probably damaging	1.00
R0280:Mast3	UTSW	8	70787920	missense	possibly damaging	0.65
R0731:Mast3	UTSW	8	70781321	missense	probably damaging	1.00
R1101:Mast3	UTSW	8	70786663	missense	probably damaging	1.00
R1177:Mast3	UTSW	8	70780324	missense	probably damaging	1.00
R1208:Mast3	UTSW	8	70788272	splice site	probably null
R1208:Mast3	UTSW	8	70788272	splice site	probably null
R1333:Mast3	UTSW	8	70781294	missense	probably damaging	1.00
R1543:Mast3	UTSW	8	70792311	missense	possibly damaging	0.93
R1544:Mast3	UTSW	8	70786172	missense	probably damaging	1.00
R1738:Mast3	UTSW	8	70784556	missense	probably benign	0.38
R1842:Mast3	UTSW	8	70780393	missense	possibly damaging	0.91
R1936:Mast3	UTSW	8	70784800	missense	probably damaging	1.00
R2015:Mast3	UTSW	8	70787363	missense	probably benign	0.00
R2219:Mast3	UTSW	8	70780963	missense	probably damaging	0.99
R2220:Mast3	UTSW	8	70780963	missense	probably damaging	0.99
R3711:Mast3	UTSW	8	70779607	missense	probably benign	0.13
R3919:Mast3	UTSW	8	70779422	missense	probably benign	0.02
R4027:Mast3	UTSW	8	70787908	missense	probably damaging	1.00
R4060:Mast3	UTSW	8	70781194	missense	probably damaging	1.00
R4061:Mast3	UTSW	8	70781194	missense	probably damaging	1.00
R4062:Mast3	UTSW	8	70781194	missense	probably damaging	1.00
R4063:Mast3	UTSW	8	70781194	missense	probably damaging	1.00
R4588:Mast3	UTSW	8	70780607	nonsense	probably null
R4672:Mast3	UTSW	8	70784797	frame shift	probably null
R4770:Mast3	UTSW	8	70786220	missense	probably damaging	1.00
R4822:Mast3	UTSW	8	70780366	missense	probably damaging	1.00
R4830:Mast3	UTSW	8	70788915	missense	possibly damaging	0.87
R5196:Mast3	UTSW	8	70788245	missense	probably damaging	1.00
R5333:Mast3	UTSW	8	70783501	missense	probably benign	0.03
R5428:Mast3	UTSW	8	70784733	missense	possibly damaging	0.95
R5656:Mast3	UTSW	8	70786221	missense	probably damaging	1.00
R5920:Mast3	UTSW	8	70787933	missense	probably benign	0.00
R6177:Mast3	UTSW	8	70790018	missense	probably damaging	1.00
R6186:Mast3	UTSW	8	70785483	missense	probably damaging	1.00
R6407:Mast3	UTSW	8	70782128	missense	probably benign	0.02
R6614:Mast3	UTSW	8	70781966	missense	possibly damaging	0.95
R6804:Mast3	UTSW	8	70786732	missense	probably benign	0.29
R6873:Mast3	UTSW	8	70786592	nonsense	probably null
R6930:Mast3	UTSW	8	70799471	nonsense	probably null
R6948:Mast3	UTSW	8	70785482	missense	probably damaging	1.00
R7084:Mast3	UTSW	8	70779473	missense	probably benign	0.14
R7253:Mast3	UTSW	8	70789682	critical splice donor site	probably null
R7316:Mast3	UTSW	8	70779788	missense	probably damaging	1.00
R7357:Mast3	UTSW	8	70784859	missense	probably damaging	1.00
R7405:Mast3	UTSW	8	70786171	missense	probably damaging	1.00
R7429:Mast3	UTSW	8	70780303	missense	probably damaging	1.00
R7430:Mast3	UTSW	8	70780303	missense	probably damaging	1.00
R7521:Mast3	UTSW	8	70788768	missense	probably benign	0.16
R7576:Mast3	UTSW	8	70781194	missense	probably damaging	1.00
R7933:Mast3	UTSW	8	70786635	missense	probably damaging	1.00
R7998:Mast3	UTSW	8	70783570	missense	probably benign
R8021:Mast3	UTSW	8	70788252	missense	probably benign	0.02
R8204:Mast3	UTSW	8	70788281	missense	probably benign	0.00
R8327:Mast3	UTSW	8	70779418	missense	probably damaging	1.00
R8357:Mast3	UTSW	8	70780441	missense	probably benign	0.39
R8415:Mast3	UTSW	8	70781222	missense	probably damaging	1.00
R8457:Mast3	UTSW	8	70780441	missense	probably benign	0.39
Z1177:Mast3	UTSW	8	70789038	critical splice acceptor site	probably null

Posted On

2016-08-02