Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02470:Mast1'

294689

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mast1

Ensembl Gene

ENSMUSG00000053693

Gene Name

microtubule associated serine/threonine kinase 1

Synonyms

9430008B02Rik, SAST, SAST170

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02470

Quality Score

Status

Chromosome

Chromosomal Location

85638532-85663988 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 85647841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 511 (G511V)

Ref Sequence

ENSEMBL: ENSMUSP00000113547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109741] [ENSMUST00000119820]

AlphaFold

Q9R1L5

Predicted Effect

probably damaging
Transcript: ENSMUST00000109741
AA Change: G511V

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

SMART Domains

Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
AA Change: G511V

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 damaging
Transcript: ENSMUST00000119820
AA Change: G511V

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

SMART Domains

Protein: ENSMUSP00000113547
Gene: ENSMUSG00000053693
AA Change: G511V

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: ENSMUST00000130923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175085

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	G	1: 165,395,295 (GRCm39)	Y1422C	probably damaging	Het
Adnp	T	A	2: 168,025,114 (GRCm39)	K727I	probably damaging	Het
Akr1c21	A	T	13: 4,627,406 (GRCm39)	N167Y	probably damaging	Het
Arl4a	T	C	12: 40,086,747 (GRCm39)		probably benign	Het
BB014433	A	T	8: 15,092,803 (GRCm39)	F17I	unknown	Het
Best1	T	C	19: 9,970,340 (GRCm39)	S91G	probably benign	Het
Ccdc148	A	T	2: 58,891,911 (GRCm39)	S235T	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dcc	A	T	18: 72,088,153 (GRCm39)		probably benign	Het
Dnajc13	G	A	9: 104,052,946 (GRCm39)	T1672I	probably benign	Het
Elf3	A	T	1: 135,182,750 (GRCm39)	F325Y	probably damaging	Het
Enpp2	A	G	15: 54,702,856 (GRCm39)	L880P	probably damaging	Het
Fndc3b	A	G	3: 27,515,869 (GRCm39)	Y646H	probably damaging	Het
Fzd6	A	T	15: 38,899,952 (GRCm39)		probably benign	Het
Gnb1	T	A	4: 155,611,970 (GRCm39)		probably benign	Het
Mcmbp	T	C	7: 128,306,345 (GRCm39)	I424M	possibly damaging	Het
Mobp	A	G	9: 119,997,072 (GRCm39)	T68A	probably benign	Het
Myh11	T	C	16: 14,035,910 (GRCm39)	E1006G	probably damaging	Het
Ncstn	A	G	1: 171,910,166 (GRCm39)		probably null	Het
Or1j12	A	G	2: 36,342,609 (GRCm39)	D4G	probably benign	Het
Or8k39	A	T	2: 86,563,929 (GRCm39)	V9E	probably damaging	Het
Phip	A	T	9: 82,772,507 (GRCm39)	V1075D	possibly damaging	Het
Sanbr	A	T	11: 23,565,222 (GRCm39)	M255K	probably damaging	Het
Serpinb1a	C	T	13: 33,034,376 (GRCm39)	S5N	probably damaging	Het
Slc15a3	A	G	19: 10,830,534 (GRCm39)	N295S	probably benign	Het
Trmt13	A	C	3: 116,383,877 (GRCm39)		probably null	Het
Trp63	A	C	16: 25,639,134 (GRCm39)		probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het

Other mutations in Mast1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Mast1	APN	8	85,639,444 (GRCm39)	missense	possibly damaging	0.87
IGL01862:Mast1	APN	8	85,639,875 (GRCm39)	splice site	probably null
IGL01918:Mast1	APN	8	85,647,838 (GRCm39)	missense	probably damaging	1.00
IGL02212:Mast1	APN	8	85,648,026 (GRCm39)	missense	probably damaging	1.00
IGL02221:Mast1	APN	8	85,645,384 (GRCm39)	missense	possibly damaging	0.92
IGL02370:Mast1	APN	8	85,638,883 (GRCm39)	missense	probably benign
IGL02596:Mast1	APN	8	85,644,400 (GRCm39)	missense	probably benign
IGL02716:Mast1	APN	8	85,662,352 (GRCm39)	missense	probably damaging	1.00
IGL02987:Mast1	APN	8	85,652,348 (GRCm39)	missense	possibly damaging	0.75
IGL03287:Mast1	APN	8	85,639,982 (GRCm39)	missense	probably benign	0.01
R0255:Mast1	UTSW	8	85,638,650 (GRCm39)	missense	probably benign
R0388:Mast1	UTSW	8	85,642,166 (GRCm39)	missense	probably benign	0.13
R0480:Mast1	UTSW	8	85,639,718 (GRCm39)	missense	probably damaging	0.99
R0727:Mast1	UTSW	8	85,648,044 (GRCm39)	missense	probably damaging	1.00
R1175:Mast1	UTSW	8	85,651,956 (GRCm39)	missense	probably benign	0.29
R1297:Mast1	UTSW	8	85,639,345 (GRCm39)	missense	probably benign	0.05
R1328:Mast1	UTSW	8	85,644,617 (GRCm39)	intron	probably benign
R1454:Mast1	UTSW	8	85,647,264 (GRCm39)	missense	probably damaging	1.00
R1532:Mast1	UTSW	8	85,655,238 (GRCm39)	nonsense	probably null
R1752:Mast1	UTSW	8	85,651,965 (GRCm39)	missense	probably benign
R1777:Mast1	UTSW	8	85,638,697 (GRCm39)	missense	probably benign
R1905:Mast1	UTSW	8	85,642,895 (GRCm39)	missense	probably damaging	1.00
R1906:Mast1	UTSW	8	85,642,895 (GRCm39)	missense	probably damaging	1.00
R1907:Mast1	UTSW	8	85,642,895 (GRCm39)	missense	probably damaging	1.00
R2056:Mast1	UTSW	8	85,646,995 (GRCm39)	missense	possibly damaging	0.95
R2071:Mast1	UTSW	8	85,647,823 (GRCm39)	missense	probably damaging	1.00
R2145:Mast1	UTSW	8	85,648,107 (GRCm39)	missense	probably damaging	1.00
R2318:Mast1	UTSW	8	85,647,754 (GRCm39)	missense	probably damaging	1.00
R2842:Mast1	UTSW	8	85,650,537 (GRCm39)	missense	probably damaging	1.00
R3870:Mast1	UTSW	8	85,645,360 (GRCm39)	missense	probably damaging	1.00
R3895:Mast1	UTSW	8	85,662,352 (GRCm39)	missense	probably damaging	1.00
R3973:Mast1	UTSW	8	85,645,393 (GRCm39)	missense	probably damaging	1.00
R4405:Mast1	UTSW	8	85,647,520 (GRCm39)	missense	probably damaging	1.00
R4533:Mast1	UTSW	8	85,647,990 (GRCm39)	missense	probably damaging	1.00
R4725:Mast1	UTSW	8	85,655,635 (GRCm39)	missense	possibly damaging	0.93
R4770:Mast1	UTSW	8	85,655,875 (GRCm39)	missense	probably benign	0.02
R4776:Mast1	UTSW	8	85,663,822 (GRCm39)	critical splice donor site	probably null
R4835:Mast1	UTSW	8	85,650,408 (GRCm39)	missense	probably damaging	1.00
R4871:Mast1	UTSW	8	85,647,287 (GRCm39)	missense	probably damaging	1.00
R4953:Mast1	UTSW	8	85,645,357 (GRCm39)	missense	probably damaging	0.99
R4960:Mast1	UTSW	8	85,644,500 (GRCm39)	missense	probably benign
R4978:Mast1	UTSW	8	85,662,416 (GRCm39)	missense	probably damaging	0.98
R5164:Mast1	UTSW	8	85,640,147 (GRCm39)	unclassified	probably benign
R5235:Mast1	UTSW	8	85,640,068 (GRCm39)	missense	probably damaging	1.00
R5297:Mast1	UTSW	8	85,639,947 (GRCm39)	critical splice donor site	probably null
R5463:Mast1	UTSW	8	85,652,136 (GRCm39)	missense	probably damaging	1.00
R5546:Mast1	UTSW	8	85,642,889 (GRCm39)	missense	probably damaging	1.00
R5651:Mast1	UTSW	8	85,655,597 (GRCm39)	nonsense	probably null
R6124:Mast1	UTSW	8	85,651,936 (GRCm39)	missense	probably benign	0.01
R6213:Mast1	UTSW	8	85,642,198 (GRCm39)	missense	probably damaging	1.00
R6717:Mast1	UTSW	8	85,644,383 (GRCm39)	missense	probably benign
R7000:Mast1	UTSW	8	85,655,598 (GRCm39)	missense	probably damaging	1.00
R7011:Mast1	UTSW	8	85,638,574 (GRCm39)	nonsense	probably null
R7164:Mast1	UTSW	8	85,661,933 (GRCm39)	missense	possibly damaging	0.81
R7695:Mast1	UTSW	8	85,647,557 (GRCm39)	missense	probably damaging	1.00
R7845:Mast1	UTSW	8	85,651,954 (GRCm39)	nonsense	probably null
R7882:Mast1	UTSW	8	85,639,947 (GRCm39)	critical splice donor site	probably null
R8167:Mast1	UTSW	8	85,647,987 (GRCm39)	missense	probably damaging	1.00
R8197:Mast1	UTSW	8	85,639,450 (GRCm39)	missense	possibly damaging	0.90
R8773:Mast1	UTSW	8	85,642,953 (GRCm39)	missense	probably damaging	1.00
R9477:Mast1	UTSW	8	85,638,779 (GRCm39)	missense	probably benign	0.18
R9526:Mast1	UTSW	8	85,647,805 (GRCm39)	missense	probably damaging	1.00
R9557:Mast1	UTSW	8	85,657,474 (GRCm39)	missense	probably damaging	1.00
R9655:Mast1	UTSW	8	85,650,660 (GRCm39)	missense	probably damaging	1.00
X0066:Mast1	UTSW	8	85,647,507 (GRCm39)	missense	probably damaging	1.00
Z1176:Mast1	UTSW	8	85,645,310 (GRCm39)	missense	probably damaging	1.00
Z1176:Mast1	UTSW	8	85,639,088 (GRCm39)	missense	probably damaging	0.97
Z1177:Mast1	UTSW	8	85,647,075 (GRCm39)	missense	probably benign	0.09

Posted On

2015-04-16