Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02236:Mast3'

285889

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02236

Quality Score

Status

Chromosome

Chromosomal Location

71230761-71257681 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71241888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 98 (S98P)

Ref Sequence

ENSEMBL: ENSMUSP00000148686 (fasta)

Gene Model

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

AlphaFold

Q3U214

Predicted Effect

probably benign
Transcript: ENSMUST00000166004
AA Change: S114P

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833
AA Change: S114P

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 benign
Transcript: ENSMUST00000211948
AA Change: S98P

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000212001

Predicted Effect

probably benign
Transcript: ENSMUST00000212038
AA Change: S97P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000212551
AA Change: S105P

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000212673
AA Change: S77P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000212757
AA Change: S116P

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000212875
AA Change: S91P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Baz1b	T	C	5: 135,246,138 (GRCm39)	L529P	probably damaging	Het
Bdp1	A	T	13: 100,197,399 (GRCm39)	D995E	probably benign	Het
Cd22	T	C	7: 30,566,893 (GRCm39)	N607S	possibly damaging	Het
Ddx10	T	A	9: 53,146,682 (GRCm39)	D180V	probably damaging	Het
Dennd4c	T	C	4: 86,725,672 (GRCm39)	Y709H	possibly damaging	Het
Dhrs3	A	C	4: 144,620,133 (GRCm39)	I17L	probably benign	Het
Dnah8	A	T	17: 30,868,747 (GRCm39)	K394*	probably null	Het
Flnc	T	A	6: 29,454,375 (GRCm39)	I1896N	probably damaging	Het
Glipr1l2	A	G	10: 111,928,534 (GRCm39)	Y143C	probably damaging	Het
Lmo7	T	C	14: 102,163,524 (GRCm39)		probably benign	Het
Lpp	C	T	16: 24,580,895 (GRCm39)	R204W	probably damaging	Het
Myf5	A	G	10: 107,320,051 (GRCm39)	S200P	possibly damaging	Het
Or52r1b	T	G	7: 102,690,928 (GRCm39)	S76A	possibly damaging	Het
Pramel12	G	A	4: 143,143,512 (GRCm39)	V93I	probably benign	Het
Recql5	A	C	11: 115,784,856 (GRCm39)	S824A	probably benign	Het
Reg2	A	G	6: 78,383,188 (GRCm39)	E45G	probably damaging	Het
Rergl	T	C	6: 139,471,918 (GRCm39)	D77G	probably benign	Het
Rnf224	T	C	2: 25,126,260 (GRCm39)	D31G	probably damaging	Het
Sema4c	C	T	1: 36,592,166 (GRCm39)	S227N	probably damaging	Het
Sgsm2	C	T	11: 74,750,698 (GRCm39)	G439D	probably damaging	Het
Smap2	T	A	4: 120,832,587 (GRCm39)	M185L	probably benign	Het
Spty2d1	A	G	7: 46,647,360 (GRCm39)	V523A	probably benign	Het
Stk17b	C	A	1: 53,803,247 (GRCm39)	R184L	probably damaging	Het
Syt13	A	G	2: 92,771,210 (GRCm39)	D99G	probably damaging	Het
Trav14-1	T	A	14: 53,791,763 (GRCm39)	S38T	possibly damaging	Het
Ttn	T	C	2: 76,700,812 (GRCm39)		probably benign	Het
Usp17la	G	A	7: 104,510,353 (GRCm39)	W319*	probably null	Het
Vmn2r73	T	C	7: 85,521,902 (GRCm39)	T146A	probably benign	Het
Vwa3b	C	T	1: 37,193,132 (GRCm39)		probably benign	Het
Zfp13	A	T	17: 23,799,739 (GRCm39)		probably benign	Het
Zscan18	A	C	7: 12,503,251 (GRCm39)	D769E	probably benign	Het

Other mutations in Mast3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Mast3	APN	8	71,233,327 (GRCm39)	splice site	probably benign
IGL01411:Mast3	APN	8	71,232,227 (GRCm39)	missense	possibly damaging	0.50
IGL01475:Mast3	APN	8	71,232,174 (GRCm39)	missense	probably damaging	1.00
IGL01886:Mast3	APN	8	71,234,783 (GRCm39)	missense	possibly damaging	0.94
IGL02104:Mast3	APN	8	71,240,550 (GRCm39)	missense	possibly damaging	0.78
IGL02437:Mast3	APN	8	71,233,202 (GRCm39)	missense	possibly damaging	0.79
IGL02704:Mast3	APN	8	71,239,519 (GRCm39)	missense	probably damaging	1.00
IGL03155:Mast3	APN	8	71,241,861 (GRCm39)	missense	probably damaging	1.00
IGL03366:Mast3	APN	8	71,234,207 (GRCm39)	nonsense	probably null
gravy	UTSW	8	71,239,279 (GRCm39)	missense	probably damaging	1.00
stuffing	UTSW	8	71,237,441 (GRCm39)	frame shift	probably null
turkey	UTSW	8	71,238,126 (GRCm39)	missense	probably damaging	1.00
BB010:Mast3	UTSW	8	71,239,279 (GRCm39)	missense	probably damaging	1.00
BB020:Mast3	UTSW	8	71,239,279 (GRCm39)	missense	probably damaging	1.00
R0037:Mast3	UTSW	8	71,236,343 (GRCm39)	critical splice donor site	probably null
R0280:Mast3	UTSW	8	71,240,564 (GRCm39)	missense	possibly damaging	0.65
R0280:Mast3	UTSW	8	71,236,439 (GRCm39)	missense	probably damaging	1.00
R0731:Mast3	UTSW	8	71,233,965 (GRCm39)	missense	probably damaging	1.00
R1101:Mast3	UTSW	8	71,239,307 (GRCm39)	missense	probably damaging	1.00
R1177:Mast3	UTSW	8	71,232,968 (GRCm39)	missense	probably damaging	1.00
R1208:Mast3	UTSW	8	71,240,916 (GRCm39)	splice site	probably null
R1208:Mast3	UTSW	8	71,240,916 (GRCm39)	splice site	probably null
R1333:Mast3	UTSW	8	71,233,938 (GRCm39)	missense	probably damaging	1.00
R1543:Mast3	UTSW	8	71,244,955 (GRCm39)	missense	possibly damaging	0.93
R1544:Mast3	UTSW	8	71,238,816 (GRCm39)	missense	probably damaging	1.00
R1738:Mast3	UTSW	8	71,237,200 (GRCm39)	missense	probably benign	0.38
R1842:Mast3	UTSW	8	71,233,037 (GRCm39)	missense	possibly damaging	0.91
R1936:Mast3	UTSW	8	71,237,444 (GRCm39)	missense	probably damaging	1.00
R2015:Mast3	UTSW	8	71,240,007 (GRCm39)	missense	probably benign	0.00
R2219:Mast3	UTSW	8	71,233,607 (GRCm39)	missense	probably damaging	0.99
R2220:Mast3	UTSW	8	71,233,607 (GRCm39)	missense	probably damaging	0.99
R3711:Mast3	UTSW	8	71,232,251 (GRCm39)	missense	probably benign	0.13
R3919:Mast3	UTSW	8	71,232,066 (GRCm39)	missense	probably benign	0.02
R4027:Mast3	UTSW	8	71,240,552 (GRCm39)	missense	probably damaging	1.00
R4060:Mast3	UTSW	8	71,233,838 (GRCm39)	missense	probably damaging	1.00
R4061:Mast3	UTSW	8	71,233,838 (GRCm39)	missense	probably damaging	1.00
R4062:Mast3	UTSW	8	71,233,838 (GRCm39)	missense	probably damaging	1.00
R4063:Mast3	UTSW	8	71,233,838 (GRCm39)	missense	probably damaging	1.00
R4588:Mast3	UTSW	8	71,233,251 (GRCm39)	nonsense	probably null
R4672:Mast3	UTSW	8	71,237,441 (GRCm39)	frame shift	probably null
R4770:Mast3	UTSW	8	71,238,864 (GRCm39)	missense	probably damaging	1.00
R4822:Mast3	UTSW	8	71,233,010 (GRCm39)	missense	probably damaging	1.00
R4830:Mast3	UTSW	8	71,241,559 (GRCm39)	missense	possibly damaging	0.87
R5196:Mast3	UTSW	8	71,240,889 (GRCm39)	missense	probably damaging	1.00
R5333:Mast3	UTSW	8	71,236,145 (GRCm39)	missense	probably benign	0.03
R5428:Mast3	UTSW	8	71,237,377 (GRCm39)	missense	possibly damaging	0.95
R5656:Mast3	UTSW	8	71,238,865 (GRCm39)	missense	probably damaging	1.00
R5920:Mast3	UTSW	8	71,240,577 (GRCm39)	missense	probably benign	0.00
R6177:Mast3	UTSW	8	71,242,662 (GRCm39)	missense	probably damaging	1.00
R6186:Mast3	UTSW	8	71,238,127 (GRCm39)	missense	probably damaging	1.00
R6407:Mast3	UTSW	8	71,234,772 (GRCm39)	missense	probably benign	0.02
R6614:Mast3	UTSW	8	71,234,610 (GRCm39)	missense	possibly damaging	0.95
R6804:Mast3	UTSW	8	71,239,376 (GRCm39)	missense	probably benign	0.29
R6873:Mast3	UTSW	8	71,239,236 (GRCm39)	nonsense	probably null
R6930:Mast3	UTSW	8	71,252,115 (GRCm39)	nonsense	probably null
R6948:Mast3	UTSW	8	71,238,126 (GRCm39)	missense	probably damaging	1.00
R7084:Mast3	UTSW	8	71,232,117 (GRCm39)	missense	probably benign	0.14
R7253:Mast3	UTSW	8	71,242,326 (GRCm39)	critical splice donor site	probably null
R7316:Mast3	UTSW	8	71,232,432 (GRCm39)	missense	probably damaging	1.00
R7357:Mast3	UTSW	8	71,237,503 (GRCm39)	missense	probably damaging	1.00
R7405:Mast3	UTSW	8	71,238,815 (GRCm39)	missense	probably damaging	1.00
R7429:Mast3	UTSW	8	71,232,947 (GRCm39)	missense	probably damaging	1.00
R7430:Mast3	UTSW	8	71,232,947 (GRCm39)	missense	probably damaging	1.00
R7521:Mast3	UTSW	8	71,241,412 (GRCm39)	missense	probably benign	0.16
R7576:Mast3	UTSW	8	71,233,838 (GRCm39)	missense	probably damaging	1.00
R7933:Mast3	UTSW	8	71,239,279 (GRCm39)	missense	probably damaging	1.00
R7998:Mast3	UTSW	8	71,236,214 (GRCm39)	missense	probably benign
R8021:Mast3	UTSW	8	71,240,896 (GRCm39)	missense	probably benign	0.02
R8204:Mast3	UTSW	8	71,240,925 (GRCm39)	missense	probably benign	0.00
R8327:Mast3	UTSW	8	71,232,062 (GRCm39)	missense	probably damaging	1.00
R8357:Mast3	UTSW	8	71,233,085 (GRCm39)	missense	probably benign	0.39
R8415:Mast3	UTSW	8	71,233,866 (GRCm39)	missense	probably damaging	1.00
R8457:Mast3	UTSW	8	71,233,085 (GRCm39)	missense	probably benign	0.39
R8530:Mast3	UTSW	8	71,240,877 (GRCm39)	missense	possibly damaging	0.92
R8891:Mast3	UTSW	8	71,233,801 (GRCm39)	missense	probably damaging	1.00
R8930:Mast3	UTSW	8	71,234,377 (GRCm39)	splice site	probably benign
R9002:Mast3	UTSW	8	71,233,904 (GRCm39)	missense	probably damaging	1.00
R9085:Mast3	UTSW	8	71,249,361 (GRCm39)	missense	unknown
R9087:Mast3	UTSW	8	71,242,330 (GRCm39)	missense	possibly damaging	0.93
R9148:Mast3	UTSW	8	71,233,091 (GRCm39)	missense	probably damaging	0.98
R9364:Mast3	UTSW	8	71,238,826 (GRCm39)	missense	probably damaging	1.00
R9779:Mast3	UTSW	8	71,238,127 (GRCm39)	missense	probably damaging	1.00
Z1177:Mast3	UTSW	8	71,241,682 (GRCm39)	critical splice acceptor site	probably null

Posted On

2015-04-16