Mutagenetix > Incidental Mutation

Incidental Mutation 'R6873:Mast3'

536259

Institutional Source

Beutler Lab

Gene Symbol

Mast3

Ensembl Gene

ENSMUSG00000031833

Gene Name

microtubule associated serine/threonine kinase 3

Synonyms

MMRRC Submission

044970-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6873 (G1)

Quality Score

206.009

Status

Validated

Chromosome

Chromosomal Location

71230761-71257681 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 71239236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 447 (C447*)

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 null
Transcript: ENSMUST00000166004
AA Change: C463*

SMART Domains

Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833
AA Change: C463*

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

probably null
Transcript: ENSMUST00000211948
AA Change: C447*

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

98% (48/49)

Allele List at MGI

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

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss1	A	G	12: 112,599,138 (GRCm39)	D123G	probably benign	Het
Agbl4	A	G	4: 111,423,856 (GRCm39)	D294G	possibly damaging	Het
Apob	G	T	12: 8,065,995 (GRCm39)	M4288I	probably benign	Het
Arnt	T	G	3: 95,381,886 (GRCm39)	F160V	probably damaging	Het
Atp5f1a	C	T	18: 77,863,540 (GRCm39)	R42*	probably null	Het
Bhlha15	A	G	5: 144,128,203 (GRCm39)	D105G	probably benign	Het
C6	A	G	15: 4,820,461 (GRCm39)	T491A	probably benign	Het
Calhm5	G	C	10: 33,968,448 (GRCm39)	R202G	probably damaging	Het
Caskin1	A	G	17: 24,723,153 (GRCm39)	E647G	probably benign	Het
Col11a2	A	G	17: 34,283,993 (GRCm39)	D1579G	unknown	Het
Dctn2	T	G	10: 127,112,105 (GRCm39)		probably null	Het
Eqtn	A	G	4: 94,815,258 (GRCm39)	V80A	probably damaging	Het
Etl4	A	G	2: 20,802,803 (GRCm39)		probably null	Het
Fbxo10	T	C	4: 45,041,787 (GRCm39)	D814G	possibly damaging	Het
Galnt10	A	G	11: 57,672,045 (GRCm39)	D445G	probably damaging	Het
Gm6309	T	C	5: 146,104,998 (GRCm39)	D305G	probably damaging	Het
Grap2	G	A	15: 80,527,874 (GRCm39)	V107I	probably damaging	Het
Igsf10	C	T	3: 59,235,865 (GRCm39)	A1439T	probably benign	Het
Krt5	G	A	15: 101,621,312 (GRCm39)		probably benign	Het
Lancl2	A	G	6: 57,699,642 (GRCm39)	I152M	possibly damaging	Het
Mef2b	A	G	8: 70,618,957 (GRCm39)	I180V	probably benign	Het
Mon1b	T	C	8: 114,368,697 (GRCm39)	Y533H	probably damaging	Het
Mst1r	A	T	9: 107,788,843 (GRCm39)	H454L	possibly damaging	Het
Nhlrc4	G	A	17: 26,162,496 (GRCm39)	Q84*	probably null	Het
Nlk	A	G	11: 78,481,774 (GRCm39)	I229T	possibly damaging	Het
Nlrp6	T	C	7: 140,503,433 (GRCm39)	I513T	probably benign	Het
Or1j12	A	T	2: 36,343,508 (GRCm39)	I304F	probably benign	Het
Or2n1	A	T	17: 38,486,259 (GRCm39)	M95L	probably benign	Het
Or4c108	T	C	2: 88,803,768 (GRCm39)	T156A	probably benign	Het
Panx1	A	T	9: 14,921,513 (GRCm39)	Y121N	probably damaging	Het
Pfkfb4	A	C	9: 108,839,403 (GRCm39)		probably null	Het
Setbp1	A	G	18: 78,902,774 (GRCm39)	S298P	probably benign	Het
Sh3bgr	A	C	16: 96,007,691 (GRCm39)	K19Q	probably damaging	Het
Slc35c2	T	C	2: 165,124,729 (GRCm39)	D82G	possibly damaging	Het
Spata13	T	A	14: 60,929,406 (GRCm39)	D321E	probably benign	Het
Stab2	A	G	10: 86,697,230 (GRCm39)		probably null	Het
Sulf2	T	A	2: 165,931,195 (GRCm39)	I271F	probably damaging	Het
Sult2a5	A	T	7: 13,359,311 (GRCm39)	I96L	probably benign	Het
Sv2b	A	G	7: 74,855,954 (GRCm39)	F112S	probably damaging	Het
Sycp1	G	A	3: 102,748,296 (GRCm39)	T832I	probably benign	Het
Tm9sf2	A	T	14: 122,382,525 (GRCm39)	E179V	probably damaging	Het
Tmem209	A	G	6: 30,508,455 (GRCm39)	I66T	probably damaging	Het
Tspan10	T	C	11: 120,335,549 (GRCm39)	W220R	probably damaging	Het
Ttc39b	G	C	4: 83,164,513 (GRCm39)	N266K	probably damaging	Het
Uri1	A	T	7: 37,664,764 (GRCm39)	D309E	probably benign	Het
Zfhx3	C	T	8: 109,527,273 (GRCm39)	R1057W	probably damaging	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	71,240,564 (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
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'- ATGGATGGAACTCTGCCCAC -3'
(R):5'- TTGGACTTGGAGTAATGGCTAC -3'

Sequencing Primer
(F):5'- GATGGAACTCTGCCCACAGCTAG -3'
(R):5'- CCCTTCTTGTGTGCAGGGC -3'

Posted On

2018-10-18