Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01411:Mast3'

80035

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 #

IGL01411

Quality Score

Status

Chromosome

Chromosomal Location

71230761-71257681 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71232227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1250 (V1250A)

Ref Sequence

ENSEMBL: ENSMUSP00000148686 (fasta)

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: ENSMUST00000154685

SMART Domains

Protein: ENSMUSP00000121463
Gene: ENSMUSG00000031834

Domain	Start	End	E-Value	Type
PDB:2XS6\|A	43	84	3e-11	PDB
SCOP:d1pbwa_	47	79	6e-9	SMART
Blast:RhoGAP	58	84	4e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000166004
AA Change: V1266A

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833
AA Change: V1266A

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

possibly damaging
Transcript: ENSMUST00000211948
AA Change: V1250A

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	A	19: 31,888,629 (GRCm39)	E36K	possibly damaging	Het
Alox8	A	T	11: 69,079,516 (GRCm39)	S257R	probably benign	Het
Apc2	T	C	10: 80,150,912 (GRCm39)	S1960P	probably damaging	Het
Arhgap35	T	C	7: 16,298,192 (GRCm39)	N291S	probably benign	Het
AW551984	A	T	9: 39,505,087 (GRCm39)	D468E	possibly damaging	Het
B3gnt6	A	C	7: 97,843,730 (GRCm39)	F77V	probably damaging	Het
C1qtnf7	A	T	5: 43,766,403 (GRCm39)	M1L	probably benign	Het
Calm3	T	C	7: 16,651,409 (GRCm39)	T63A	probably benign	Het
Ccdc33	G	A	9: 58,024,919 (GRCm39)		probably benign	Het
Cdh4	C	T	2: 179,422,196 (GRCm39)	R107C	probably damaging	Het
Cdr2l	A	G	11: 115,273,192 (GRCm39)	E15G	probably damaging	Het
Chil6	A	G	3: 106,296,141 (GRCm39)	W365R	probably damaging	Het
Ckap5	G	T	2: 91,431,356 (GRCm39)	R1525L	probably benign	Het
Col6a6	T	A	9: 105,663,157 (GRCm39)	K127*	probably null	Het
Dclre1b	A	G	3: 103,710,639 (GRCm39)	V298A	probably damaging	Het
Fat1	T	A	8: 45,479,837 (GRCm39)	V2961E	probably damaging	Het
Fhit	T	C	14: 9,573,483 (GRCm38)	D126G	probably benign	Het
Gpc1	T	C	1: 92,784,736 (GRCm39)	F303S	probably damaging	Het
Hsd17b4	T	A	18: 50,324,881 (GRCm39)	V698D	probably damaging	Het
Itpr2	C	T	6: 146,277,560 (GRCm39)		probably null	Het
Klhl4	A	T	X: 113,432,091 (GRCm39)	D168V	probably damaging	Het
Krt42	A	G	11: 100,154,167 (GRCm39)	L405P	possibly damaging	Het
Lrp1	A	T	10: 127,417,634 (GRCm39)	C85*	probably null	Het
Lrp2	A	G	2: 69,312,611 (GRCm39)	L2559P	probably damaging	Het
Maob	T	G	X: 16,578,808 (GRCm39)	R448S	possibly damaging	Het
Mfsd4b5	C	T	10: 39,846,723 (GRCm39)	V286M	probably damaging	Het
Mlip	A	G	9: 77,146,699 (GRCm39)	I198T	possibly damaging	Het
Mocs3	T	C	2: 168,073,297 (GRCm39)	V248A	probably damaging	Het
Nxf2	T	A	X: 133,852,861 (GRCm39)	R367S	probably benign	Het
Or10j3b	T	G	1: 173,043,695 (GRCm39)	V159G	probably benign	Het
Or52z12	T	C	7: 103,233,324 (GRCm39)	W32R	probably damaging	Het
Parva	T	C	7: 112,176,217 (GRCm39)		probably benign	Het
Pot1a	A	T	6: 25,750,143 (GRCm39)		probably benign	Het
Ptpra	T	C	2: 130,386,359 (GRCm39)	I603T	probably damaging	Het
Rad9a	T	C	19: 4,251,336 (GRCm39)	K33E	probably benign	Het
Rimbp3	A	G	16: 17,028,958 (GRCm39)	D794G	probably damaging	Het
Septin5	G	A	16: 18,443,680 (GRCm39)	R90C	probably damaging	Het
Skint8	T	A	4: 111,794,103 (GRCm39)	N164K	probably damaging	Het
Slc30a3	T	G	5: 31,247,424 (GRCm39)	I73L	probably benign	Het
Stab2	A	T	10: 86,815,872 (GRCm39)		probably benign	Het
Tnc	C	T	4: 63,918,959 (GRCm39)	V1155M	probably damaging	Het
Ttc13	T	G	8: 125,410,024 (GRCm39)	Q525P	probably damaging	Het
Ttn	T	C	2: 76,550,479 (GRCm39)	E31601G	probably damaging	Het
Unc5a	A	T	13: 55,150,741 (GRCm39)	D577V	probably damaging	Het
Usp18	G	A	6: 121,238,380 (GRCm39)	V176M	probably benign	Het
Vmn1r184	T	C	7: 25,966,320 (GRCm39)	V22A	probably benign	Het
Vmn1r33	T	A	6: 66,588,865 (GRCm39)	I230F	probably damaging	Het
Vmn1r51	A	G	6: 90,106,386 (GRCm39)	I101V	probably benign	Het
Vmn2r108	T	A	17: 20,691,282 (GRCm39)	M414L	probably benign	Het
Vmn2r87	A	C	10: 130,308,429 (GRCm39)	V603G	probably benign	Het
Wt1	A	G	2: 104,963,319 (GRCm39)	Y16C	probably damaging	Het
Wwp2	C	T	8: 108,232,977 (GRCm39)	T159I	probably benign	Het
Xirp2	T	C	2: 67,344,427 (GRCm39)	F2223L	probably benign	Het
Zan	T	A	5: 137,387,155 (GRCm39)	H4966L	unknown	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
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
IGL02236:Mast3	APN	8	71,241,888 (GRCm39)	missense	probably benign	0.36
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

2013-11-05