Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00952:Mast3'

28047

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00952

Quality Score

Status

Chromosome

Chromosomal Location

70778117-70805054 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 70780683 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034296] [ENSMUST00000166004] [ENSMUST00000211948]

AlphaFold

Q3U214

Predicted Effect

probably benign
Transcript: ENSMUST00000034296

SMART Domains

Protein: ENSMUSP00000034296
Gene: ENSMUSG00000031834

Domain	Start	End	E-Value	Type
SH3	7	79	4e-7	SMART
RhoGAP	122	286	2.36e-18	SMART
low complexity region	291	311	N/A	INTRINSIC
SH2	322	405	4.51e-26	SMART
Pfam:PI3K_P85_iSH2	422	590	1.7e-64	PFAM
SH2	614	696	9.96e-28	SMART
low complexity region	713	718	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142370

Predicted Effect

probably benign
Transcript: ENSMUST00000166004

SMART Domains

Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833

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: ENSMUST00000191396

Predicted Effect

probably benign
Transcript: ENSMUST00000211948

Predicted Effect

probably benign
Transcript: ENSMUST00000212140

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212172

Coding Region Coverage

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	G	6: 40,964,799	I4S	probably benign	Het
Abca8b	A	G	11: 109,969,060		probably null	Het
Aftph	A	T	11: 20,727,483	V42E	probably damaging	Het
AI467606	A	G	7: 127,092,702	S150G	probably damaging	Het
Art4	T	C	6: 136,854,820	N108D	possibly damaging	Het
B9d1	G	A	11: 61,512,678	V167I	possibly damaging	Het
Ccdc47	A	T	11: 106,203,532		probably null	Het
Ccdc96	T	A	5: 36,485,080		probably benign	Het
Cfap44	A	G	16: 44,421,275	I670V	probably benign	Het
Col18a1	T	G	10: 77,069,979	K909Q	possibly damaging	Het
Col8a2	A	G	4: 126,309,791	Y59C	probably damaging	Het
Coro6	A	T	11: 77,468,465	D288V	probably damaging	Het
Cul4a	C	T	8: 13,146,562	L739F	probably damaging	Het
Dmxl2	C	T	9: 54,416,882	V1073I	probably damaging	Het
Dnah11	T	C	12: 118,196,651	T115A	possibly damaging	Het
Fdx1l	A	G	9: 21,073,262		probably null	Het
Flnc	C	T	6: 29,459,547	Q2549*	probably null	Het
Foxn2	T	C	17: 88,475,880	C188R	probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Ilf3	T	C	9: 21,396,051	L343P	probably damaging	Het
Itgb2l	C	T	16: 96,426,750	G518S	probably damaging	Het
Itpr2	T	A	6: 146,158,961	I2486F	probably damaging	Het
Kat2a	A	G	11: 100,706,151	V681A	probably damaging	Het
Kif17	A	G	4: 138,262,708	N69S	possibly damaging	Het
Kif26b	G	A	1: 178,932,205	D2106N	probably damaging	Het
Klf6	A	G	13: 5,861,681	T15A	probably benign	Het
Lyst	A	G	13: 13,678,107	T2231A	probably benign	Het
Mark4	T	C	7: 19,431,824	T515A	possibly damaging	Het
Nalcn	T	C	14: 123,348,789	K722R	probably benign	Het
Ncf2	G	A	1: 152,836,106	E524K	probably benign	Het
Olfr1135	A	T	2: 87,671,815	I184N	probably damaging	Het
Olfr510	A	G	7: 108,668,238	N274S	possibly damaging	Het
Olfr681	A	G	7: 105,122,407		probably null	Het
Olfr895	A	T	9: 38,268,505		probably benign	Het
Plcg2	A	T	8: 117,607,217	M910L	probably benign	Het
Pramef17	T	C	4: 143,993,324	H157R	probably benign	Het
Rai1	A	T	11: 60,187,992	K961*	probably null	Het
Rsph14	T	C	10: 75,029,769	D112G	probably benign	Het
Sgo1	T	A	17: 53,687,247	D59V	probably damaging	Het
Slc22a29	A	T	19: 8,217,857	V138E	probably damaging	Het
Slc9a1	T	A	4: 133,416,382	V393D	probably damaging	Het
Smg6	A	G	11: 74,929,148	R82G	probably benign	Het
Sppl3	T	C	5: 115,074,876	S55P	probably benign	Het
Srsf12	A	C	4: 33,226,103	Q122P	possibly damaging	Het
Tas1r2	T	C	4: 139,655,252	M67T	probably benign	Het
Thnsl1	G	A	2: 21,211,956	V174I	possibly damaging	Het
Thumpd1	A	G	7: 119,717,009	V239A	possibly damaging	Het
Tnxb	T	G	17: 34,713,128	Y2212D	probably damaging	Het
Trim40	T	C	17: 36,882,397	*213W	probably null	Het
Ttc16	T	C	2: 32,770,247	D183G	probably damaging	Het

Other mutations in Mast3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03155:Mast3	APN	8	70789217	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
R8530:Mast3	UTSW	8	70788233	missense	possibly damaging	0.92
R8891:Mast3	UTSW	8	70781157	missense	probably damaging	1.00
R8930:Mast3	UTSW	8	70781733	splice site	probably benign
R9002:Mast3	UTSW	8	70781260	missense	probably damaging	1.00
R9085:Mast3	UTSW	8	70796717	missense	unknown
R9087:Mast3	UTSW	8	70789686	missense	possibly damaging	0.93
R9148:Mast3	UTSW	8	70780447	missense	probably damaging	0.98
R9364:Mast3	UTSW	8	70786182	missense	probably damaging	1.00
R9779:Mast3	UTSW	8	70785483	missense	probably damaging	1.00
Z1177:Mast3	UTSW	8	70789038	critical splice acceptor site	probably null

Posted On

2013-04-17