Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01862:Mast1'

178403

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mast1

Ensembl Gene

ENSMUSG00000053693

Gene Name

microtubule associated serine/threonine kinase 1

Synonyms

SAST170, SAST, 9430008B02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01862

Quality Score

Status

Chromosome

Chromosomal Location

84911903-84937359 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 84913246 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003910] [ENSMUST00000109741] [ENSMUST00000109744] [ENSMUST00000119820] [ENSMUST00000134569] [ENSMUST00000145292]

AlphaFold

Q9R1L5

Predicted Effect

probably benign
Transcript: ENSMUST00000003910

SMART Domains

Protein: ENSMUSP00000003910
Gene: ENSMUSG00000003812

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:DNase_II	21	349	5.8e-116	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109741

SMART Domains

Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693

Domain	Start	End	E-Value	Type
Pfam:DUF1908	61	337	1.4e-136	PFAM
S_TKc	376	649	4.07e-97	SMART
S_TK_X	650	710	6.23e-2	SMART
low complexity region	820	836	N/A	INTRINSIC
low complexity region	863	878	N/A	INTRINSIC
low complexity region	933	961	N/A	INTRINSIC
PDZ	977	1057	3.49e-14	SMART
low complexity region	1104	1132	N/A	INTRINSIC
low complexity region	1149	1174	N/A	INTRINSIC
low complexity region	1212	1224	N/A	INTRINSIC
low complexity region	1243	1252	N/A	INTRINSIC
low complexity region	1479	1492	N/A	INTRINSIC
low complexity region	1519	1535	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109744

SMART Domains

Protein: ENSMUSP00000105366
Gene: ENSMUSG00000003812

Domain	Start	End	E-Value	Type
Pfam:DNase_II	9	328	4.8e-114	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000119820

SMART Domains

Protein: ENSMUSP00000113547
Gene: ENSMUSG00000053693

Domain	Start	End	E-Value	Type
Pfam:DUF1908	61	338	5.1e-148	PFAM
S_TKc	376	644	2.79e-86	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128400

Predicted Effect

probably benign
Transcript: ENSMUST00000134569

SMART Domains

Protein: ENSMUSP00000117198
Gene: ENSMUSG00000003812

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:DNase_II	20	119	6.6e-32	PFAM
Pfam:DNase_II	115	182	4.3e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135219

Predicted Effect

probably benign
Transcript: ENSMUST00000145292

SMART Domains

Protein: ENSMUSP00000138203
Gene: ENSMUSG00000003812

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:DNase_II	20	97	2.4e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155942

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406M09Rik	G	A	1: 134,390,611	V374I	probably benign	Het
Abca8b	G	T	11: 109,947,171	S1085*	probably null	Het
Akap9	T	G	5: 3,951,705	S94A	probably damaging	Het
Akap9	T	A	5: 4,065,856	N3425K	probably damaging	Het
Anapc7	T	A	5: 122,440,119	I389N	probably benign	Het
Aqp7	G	A	4: 41,045,321	R20*	probably null	Het
Cacna1h	C	T	17: 25,383,483	G1524R	probably damaging	Het
Cacng4	T	C	11: 107,794,370	Y32C	probably damaging	Het
Ccdc130	G	T	8: 84,260,534		probably benign	Het
Cep120	A	C	18: 53,714,767	S673R	probably benign	Het
Cep162	T	C	9: 87,253,933	E19G	possibly damaging	Het
Cpxm2	C	T	7: 132,059,811	V416I	probably benign	Het
Dapk1	A	G	13: 60,726,610	T427A	probably benign	Het
Ecm1	A	T	3: 95,734,273	D549E	probably benign	Het
Efemp1	T	A	11: 28,921,428	N342K	probably damaging	Het
Erc2	T	C	14: 28,271,569		probably benign	Het
Fam160b2	C	T	14: 70,587,690	R402H	probably benign	Het
Galnt13	T	C	2: 54,857,914	V269A	probably damaging	Het
Gm6465	T	G	5: 11,849,053	L171R	probably damaging	Het
Gpatch1	A	G	7: 35,295,278	V521A	probably benign	Het
Heatr5b	A	T	17: 78,796,485	V1087E	possibly damaging	Het
Ikzf2	A	T	1: 69,538,898	V484D	probably damaging	Het
Ints4	T	A	7: 97,541,153	V953E	probably damaging	Het
Iqce	T	C	5: 140,699,725	D15G	possibly damaging	Het
Kif3a	T	A	11: 53,570,541	N4K	possibly damaging	Het
Lrch4	A	T	5: 137,637,009	I254F	probably damaging	Het
Ly75	A	T	2: 60,299,172	V1623D	probably damaging	Het
Mapt	T	A	11: 104,290,002		probably benign	Het
Mcc	G	T	18: 44,759,296	Q84K	probably benign	Het
Mtfr2	G	A	10: 20,348,403	V28M	probably benign	Het
Myh8	T	A	11: 67,289,694	Y585*	probably null	Het
Napsa	T	C	7: 44,582,493	V202A	probably damaging	Het
Nsd2	A	G	5: 33,843,736	K199R	probably null	Het
Ntpcr	C	T	8: 125,736,098	A18V	probably benign	Het
Olfr1009	G	T	2: 85,722,128	C241F	probably damaging	Het
Olfr117	G	T	17: 37,659,477	N285K	probably damaging	Het
Olfr169	A	T	16: 19,566,676	M69K	probably damaging	Het
Olfr689	T	A	7: 105,314,232	I76N	probably damaging	Het
Olfr877	A	G	9: 37,855,181	D121G	probably damaging	Het
Os9	A	G	10: 127,099,704	V299A	probably benign	Het
Pcdhb7	T	C	18: 37,343,862	S684P	possibly damaging	Het
Phf19	A	C	2: 34,897,055		probably null	Het
Pkd1l3	G	A	8: 109,631,276		probably null	Het
Pkhd1	A	G	1: 20,358,910	I2422T	probably damaging	Het
Plxna2	T	A	1: 194,643,950	V64E	possibly damaging	Het
Psme4	T	A	11: 30,812,038	C459*	probably null	Het
Ptk6	T	C	2: 181,199,640	S159G	probably benign	Het
Rhd	T	C	4: 134,890,339	I329T	possibly damaging	Het
Scfd1	A	G	12: 51,445,711	Y601C	probably damaging	Het
Shroom3	T	C	5: 92,962,289	S1753P	probably damaging	Het
Slc8a1	A	C	17: 81,442,201		probably null	Het
Spg7	T	A	8: 123,076,930	L233Q	probably damaging	Het
Strip1	C	A	3: 107,621,882	R353L	probably damaging	Het
Ubr1	T	C	2: 120,934,342	N544D	possibly damaging	Het
Ubr4	A	G	4: 139,477,158	T4794A	possibly damaging	Het
Usp24	A	G	4: 106,408,898		probably benign	Het
Vmn1r193	A	T	13: 22,219,814	C3S	probably benign	Het
Zdhhc5	C	T	2: 84,690,492	R447H	probably benign	Het
Zfp202	A	G	9: 40,211,828	I629V	probably benign	Het
Zfp462	T	A	4: 55,023,441	C990S	probably damaging	Het

Other mutations in Mast1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Mast1	APN	8	84912815	missense	possibly damaging	0.87
IGL01918:Mast1	APN	8	84921209	missense	probably damaging	1.00
IGL02212:Mast1	APN	8	84921397	missense	probably damaging	1.00
IGL02221:Mast1	APN	8	84918755	missense	possibly damaging	0.92
IGL02370:Mast1	APN	8	84912254	missense	probably benign
IGL02470:Mast1	APN	8	84921212	missense	probably damaging	1.00
IGL02596:Mast1	APN	8	84917771	missense	probably benign
IGL02716:Mast1	APN	8	84935723	missense	probably damaging	1.00
IGL02987:Mast1	APN	8	84925719	missense	possibly damaging	0.75
IGL03287:Mast1	APN	8	84913353	missense	probably benign	0.01
R0255:Mast1	UTSW	8	84912021	missense	probably benign
R0388:Mast1	UTSW	8	84915537	missense	probably benign	0.13
R0480:Mast1	UTSW	8	84913089	missense	probably damaging	0.99
R0727:Mast1	UTSW	8	84921415	missense	probably damaging	1.00
R1175:Mast1	UTSW	8	84925327	missense	probably benign	0.29
R1297:Mast1	UTSW	8	84912716	missense	probably benign	0.05
R1328:Mast1	UTSW	8	84917988	intron	probably benign
R1454:Mast1	UTSW	8	84920635	missense	probably damaging	1.00
R1532:Mast1	UTSW	8	84928609	nonsense	probably null
R1752:Mast1	UTSW	8	84925336	missense	probably benign
R1777:Mast1	UTSW	8	84912068	missense	probably benign
R1905:Mast1	UTSW	8	84916266	missense	probably damaging	1.00
R1906:Mast1	UTSW	8	84916266	missense	probably damaging	1.00
R1907:Mast1	UTSW	8	84916266	missense	probably damaging	1.00
R2056:Mast1	UTSW	8	84920366	missense	possibly damaging	0.95
R2071:Mast1	UTSW	8	84921194	missense	probably damaging	1.00
R2145:Mast1	UTSW	8	84921478	missense	probably damaging	1.00
R2318:Mast1	UTSW	8	84921125	missense	probably damaging	1.00
R2842:Mast1	UTSW	8	84923908	missense	probably damaging	1.00
R3870:Mast1	UTSW	8	84918731	missense	probably damaging	1.00
R3895:Mast1	UTSW	8	84935723	missense	probably damaging	1.00
R3973:Mast1	UTSW	8	84918764	missense	probably damaging	1.00
R4405:Mast1	UTSW	8	84920891	missense	probably damaging	1.00
R4533:Mast1	UTSW	8	84921361	missense	probably damaging	1.00
R4725:Mast1	UTSW	8	84929006	missense	possibly damaging	0.93
R4770:Mast1	UTSW	8	84929246	missense	probably benign	0.02
R4776:Mast1	UTSW	8	84937193	critical splice donor site	probably null
R4835:Mast1	UTSW	8	84923779	missense	probably damaging	1.00
R4871:Mast1	UTSW	8	84920658	missense	probably damaging	1.00
R4953:Mast1	UTSW	8	84918728	missense	probably damaging	0.99
R4960:Mast1	UTSW	8	84917871	missense	probably benign
R4978:Mast1	UTSW	8	84935787	missense	probably damaging	0.98
R5164:Mast1	UTSW	8	84913518	unclassified	probably benign
R5235:Mast1	UTSW	8	84913439	missense	probably damaging	1.00
R5297:Mast1	UTSW	8	84913318	critical splice donor site	probably null
R5463:Mast1	UTSW	8	84925507	missense	probably damaging	1.00
R5546:Mast1	UTSW	8	84916260	missense	probably damaging	1.00
R5651:Mast1	UTSW	8	84928968	nonsense	probably null
R6124:Mast1	UTSW	8	84925307	missense	probably benign	0.01
R6213:Mast1	UTSW	8	84915569	missense	probably damaging	1.00
R6717:Mast1	UTSW	8	84917754	missense	probably benign
R7000:Mast1	UTSW	8	84928969	missense	probably damaging	1.00
R7011:Mast1	UTSW	8	84911945	nonsense	probably null
R7164:Mast1	UTSW	8	84935304	missense	possibly damaging	0.81
R7695:Mast1	UTSW	8	84920928	missense	probably damaging	1.00
R7845:Mast1	UTSW	8	84925325	nonsense	probably null
R7882:Mast1	UTSW	8	84913318	critical splice donor site	probably null
R8167:Mast1	UTSW	8	84921358	missense	probably damaging	1.00
R8197:Mast1	UTSW	8	84912821	missense	possibly damaging	0.90
R8773:Mast1	UTSW	8	84916324	missense	probably damaging	1.00
R9477:Mast1	UTSW	8	84912150	missense	probably benign	0.18
R9526:Mast1	UTSW	8	84921176	missense	probably damaging	1.00
R9557:Mast1	UTSW	8	84930845	missense	probably damaging	1.00
R9655:Mast1	UTSW	8	84924031	missense	probably damaging	1.00
X0066:Mast1	UTSW	8	84920878	missense	probably damaging	1.00
Z1176:Mast1	UTSW	8	84912459	missense	probably damaging	0.97
Z1176:Mast1	UTSW	8	84918681	missense	probably damaging	1.00
Z1177:Mast1	UTSW	8	84920446	missense	probably benign	0.09

Posted On

2014-05-07