Mutagenetix > Incidental Mutation

Incidental Mutation 'R0280:Mast3'

37463

Institutional Source

Beutler Lab

Gene Symbol

Mast3

Ensembl Gene

ENSMUSG00000031833

Gene Name

microtubule associated serine/threonine kinase 3

Synonyms

MMRRC Submission

038502-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0280 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

71230761-71257681 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71240564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 291 (V291A)

Ref Sequence

ENSEMBL: ENSMUSP00000128703 (fasta)

Gene Model

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

AlphaFold

Q3U214

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166004
AA Change: V291A

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833
AA Change: V291A

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

possibly damaging
Transcript: ENSMUST00000211948
AA Change: V275A

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000212001

Predicted Effect

probably benign
Transcript: ENSMUST00000212038

Predicted Effect

probably benign
Transcript: ENSMUST00000212140

Predicted Effect

probably benign
Transcript: ENSMUST00000212551

Predicted Effect

probably benign
Transcript: ENSMUST00000212673

Predicted Effect

probably benign
Transcript: ENSMUST00000212757

Predicted Effect

probably benign
Transcript: ENSMUST00000212875

Meta Mutation Damage Score

0.1701

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

96% (55/57)

Allele List at MGI

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

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adam18	C	T	8: 25,164,070 (GRCm39)	G38R	probably benign	Het
Ankrd16	T	G	2: 11,786,312 (GRCm39)	V187G	probably damaging	Het
Ccdc110	A	T	8: 46,396,487 (GRCm39)	N793Y	probably benign	Het
Ccdc170	T	C	10: 4,508,663 (GRCm39)	I629T	possibly damaging	Het
Clcn6	A	G	4: 148,093,172 (GRCm39)	L836P	probably damaging	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Crocc	T	C	4: 140,755,737 (GRCm39)	E1097G	probably damaging	Het
Csmd1	A	T	8: 16,321,616 (GRCm39)	V494E	probably damaging	Het
Drg1	A	T	11: 3,206,537 (GRCm39)		probably null	Het
Dscam	T	C	16: 96,840,206 (GRCm39)	K134E	possibly damaging	Het
Dyrk1b	T	C	7: 27,883,737 (GRCm39)	Y198H	probably damaging	Het
Esr1	A	G	10: 4,806,951 (GRCm39)	D289G	probably benign	Het
Esr1	G	T	10: 4,889,289 (GRCm39)	V396F	probably damaging	Het
Evi5l	T	C	8: 4,243,133 (GRCm39)	V339A	probably damaging	Het
Fat4	A	T	3: 38,944,965 (GRCm39)	Q1286L	probably benign	Het
Fcsk	A	T	8: 111,621,380 (GRCm39)	V188D	probably damaging	Het
Frem1	T	C	4: 82,887,681 (GRCm39)	H1118R	probably damaging	Het
Fut9	C	T	4: 25,619,852 (GRCm39)	D321N	probably benign	Het
Gaa	T	G	11: 119,175,373 (GRCm39)	V917G	probably damaging	Het
Gm973	GCC	GC	1: 59,583,839 (GRCm39)		probably null	Het
Kidins220	A	G	12: 25,060,140 (GRCm39)	T767A	probably damaging	Het
Kif7	A	G	7: 79,348,571 (GRCm39)	S1257P	probably benign	Het
Ltn1	A	G	16: 87,194,726 (GRCm39)	L1391P	probably damaging	Het
Metrn	C	T	17: 26,014,109 (GRCm39)	R239H	probably benign	Het
Mphosph10	C	A	7: 64,026,451 (GRCm39)	K666N	possibly damaging	Het
Mtbp	C	T	15: 55,449,857 (GRCm39)	T433I	probably benign	Het
Mtmr2	A	G	9: 13,710,545 (GRCm39)	K365E	probably damaging	Het
Nanog	A	G	6: 122,690,357 (GRCm39)	D229G	probably damaging	Het
Nkapd1	T	C	9: 50,520,679 (GRCm39)	T123A	probably damaging	Het
Npepps	T	C	11: 97,131,840 (GRCm39)	N338S	possibly damaging	Het
Nphp4	T	A	4: 152,636,393 (GRCm39)		probably benign	Het
Odad4	A	T	11: 100,441,091 (GRCm39)	K107N	probably damaging	Het
Or4g16	T	C	2: 111,137,417 (GRCm39)	F289S	possibly damaging	Het
Plcl2	A	G	17: 50,914,062 (GRCm39)	E357G	probably damaging	Het
Polb	A	T	8: 23,130,408 (GRCm39)	Y173N	probably damaging	Het
R3hdm1	T	A	1: 128,090,512 (GRCm39)	S74T	probably benign	Het
Raet1d	T	A	10: 22,246,782 (GRCm39)	C37S	probably damaging	Het
Reln	G	A	5: 22,432,511 (GRCm39)		probably benign	Het
Rps6kc1	T	C	1: 190,541,197 (GRCm39)	S369G	probably damaging	Het
Sgf29	A	G	7: 126,270,743 (GRCm39)	E108G	probably benign	Het
Sh3tc1	A	G	5: 35,863,361 (GRCm39)	L942P	probably damaging	Het
Slc22a27	A	T	19: 7,874,187 (GRCm39)	L188*	probably null	Het
Slc9a3	T	A	13: 74,307,543 (GRCm39)	I445N	probably damaging	Het
Sufu	A	T	19: 46,439,112 (GRCm39)		probably benign	Het
Tomm40	G	A	7: 19,447,676 (GRCm39)	T118I	probably damaging	Het
Ttn	C	T	2: 76,570,823 (GRCm39)	R26690H	probably damaging	Het
Vmn2r16	A	G	5: 109,488,005 (GRCm39)	I293V	possibly damaging	Het
Vmn2r68	T	A	7: 84,882,457 (GRCm39)		probably benign	Het
Vmn2r68	C	G	7: 84,882,466 (GRCm39)		probably null	Het
Vsig8	A	G	1: 172,389,105 (GRCm39)	D119G	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
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	71,236,439 (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

Predicted Primers

PCR Primer
(F):5'- GAATTCTTCCGGGTCAAACTCCTGC -3'
(R):5'- TGGGCTTTATCCACCACCAGATCG -3'

Sequencing Primer
(F):5'- CGCGGGAGAAGCTGTGAG -3'
(R):5'- CTATTTCCTGGAGATGCAGGAC -3'

Posted On

2013-05-23