Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02221:Mast1'

285138

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 #

IGL02221

Quality Score

Status

Chromosome

Chromosomal Location

85638532-85663988 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85645384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 687 (V687A)

Ref Sequence

ENSEMBL: ENSMUSP00000105363 (fasta)

Gene Model

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

AlphaFold

Q9R1L5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109741
AA Change: V687A

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
AA Change: V687A

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: 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

noncoding transcript
Transcript: ENSMUST00000130923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153000

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,333,907 (GRCm39)	I24M	probably benign	Het
Ano5	G	A	7: 51,220,071 (GRCm39)	D390N	probably damaging	Het
Atp2c2	A	G	8: 120,471,073 (GRCm39)	Y407C	probably damaging	Het
B430306N03Rik	T	C	17: 48,631,223 (GRCm39)		probably benign	Het
Cd44	A	T	2: 102,676,858 (GRCm39)	M269K	probably benign	Het
Cdin1	T	C	2: 115,469,547 (GRCm39)		probably null	Het
Cpped1	G	T	16: 11,646,392 (GRCm39)	P144Q	probably damaging	Het
Epas1	C	T	17: 87,135,275 (GRCm39)	T636M	possibly damaging	Het
Hsd17b3	G	T	13: 64,236,865 (GRCm39)	H26Q	probably benign	Het
Ighv8-9	A	G	12: 115,431,947 (GRCm39)		probably benign	Het
Itih1	A	T	14: 30,651,544 (GRCm39)	C883S	probably damaging	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Lcn3	A	T	2: 25,656,172 (GRCm39)	M76L	probably benign	Het
Lin9	A	T	1: 180,478,399 (GRCm39)	M53L	probably benign	Het
Mmd2	C	T	5: 142,555,212 (GRCm39)		probably benign	Het
Mroh2b	T	C	15: 4,953,123 (GRCm39)	L619S	probably damaging	Het
Ngef	T	C	1: 87,468,418 (GRCm39)	T114A	probably benign	Het
Nlrp12	T	C	7: 3,289,597 (GRCm39)	D305G	possibly damaging	Het
Nlrp1a	A	T	11: 71,013,944 (GRCm39)	F435L	possibly damaging	Het
Nup188	A	G	2: 30,220,653 (GRCm39)	I909V	possibly damaging	Het
Osbpl3	A	C	6: 50,304,347 (GRCm39)		probably benign	Het
P2ry2	G	T	7: 100,647,321 (GRCm39)	P328H	possibly damaging	Het
Prex2	A	T	1: 11,131,569 (GRCm39)	N46I	probably benign	Het
Prss42	T	C	9: 110,632,243 (GRCm39)	F325L	possibly damaging	Het
Reep5	A	G	18: 34,482,850 (GRCm39)	F120L	probably damaging	Het
Scg3	G	T	9: 75,590,939 (GRCm39)	F23L	probably damaging	Het
Scx	A	G	15: 76,343,295 (GRCm39)	D200G	probably benign	Het
Setd5	C	T	6: 113,098,131 (GRCm39)		probably benign	Het
Tcf4	T	A	18: 69,480,438 (GRCm39)	S23R	probably damaging	Het
Ttc4	A	G	4: 106,533,793 (GRCm39)		probably null	Het
Tyro3	T	A	2: 119,643,071 (GRCm39)	C627S	probably benign	Het
Yipf2	T	C	9: 21,502,764 (GRCm39)	N106S	possibly damaging	Het
Zfp619	T	C	7: 39,186,334 (GRCm39)	L788P	probably benign	Het
Zfp831	G	A	2: 174,485,519 (GRCm39)	V65I	probably benign	Het
Zgpat	T	C	2: 181,020,651 (GRCm39)	S275P	probably benign	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
IGL02370:Mast1	APN	8	85,638,883 (GRCm39)	missense	probably benign
IGL02470:Mast1	APN	8	85,647,841 (GRCm39)	missense	probably damaging	1.00
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