Mutagenetix > Incidental Mutation

Incidental Mutation 'R2145:Mast1'

233736

Institutional Source

Beutler Lab

Gene Symbol

Mast1

Ensembl Gene

ENSMUSG00000053693

Gene Name

microtubule associated serine/threonine kinase 1

Synonyms

SAST170, SAST, 9430008B02Rik

MMRRC Submission

040148-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2145 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84911903-84937359 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 84921478 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 458 (G458V)

Ref Sequence

ENSEMBL: ENSMUSP00000113547 (fasta)

Gene Model

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

AlphaFold

Q9R1L5

Predicted Effect

probably damaging
Transcript: ENSMUST00000109741
AA Change: G458V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
AA Change: G458V

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 damaging
Transcript: ENSMUST00000119820
AA Change: G458V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113547
Gene: ENSMUSG00000053693
AA Change: G458V

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: ENSMUST00000130923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175085

Meta Mutation Damage Score

0.9540

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (101/104)

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	T	C	9: 50,764,874	Y32C	probably damaging	Het
Abca15	A	G	7: 120,354,478	N535S	probably benign	Het
Abcc6	A	T	7: 45,998,741	L717Q	probably benign	Het
Abraxas2	C	A	7: 132,883,061	Q278K	probably benign	Het
Acap2	A	T	16: 31,105,524	D637E	probably benign	Het
AI661453	A	G	17: 47,466,098		probably benign	Het
Aoah	A	T	13: 20,840,096	E74V	probably damaging	Het
Appl1	A	G	14: 26,949,619	L292S	possibly damaging	Het
Astl	T	A	2: 127,347,189	V166E	probably damaging	Het
Atp5s	A	G	12: 69,741,054	Q88R	probably damaging	Het
Bbs1	T	G	19: 4,903,707	K143Q	possibly damaging	Het
Bbx	T	C	16: 50,274,544		probably benign	Het
Birc6	A	T	17: 74,660,413	Q4103L	possibly damaging	Het
C1qtnf2	T	G	11: 43,490,984	F178V	probably damaging	Het
Camta2	A	G	11: 70,671,575	F999L	probably benign	Het
Clcn7	A	G	17: 25,144,451	I34V	probably benign	Het
Cntn5	G	T	9: 9,748,415	P487Q	probably damaging	Het
Ctu2	T	A	8: 122,479,152	I213K	probably benign	Het
Des	C	A	1: 75,363,464		probably benign	Het
Dgcr8	A	T	16: 18,280,230	D432E	probably benign	Het
Dlgap5	G	A	14: 47,395,923	R549*	probably null	Het
Dmxl2	T	C	9: 54,415,910	T1397A	probably damaging	Het
Dnmt1	T	A	9: 20,937,155		probably benign	Het
Doxl2	A	T	6: 48,976,695	D518V	probably damaging	Het
Dstyk	T	A	1: 132,463,375	M838K	probably damaging	Het
Dtwd1	C	A	2: 126,159,984	T208N	probably damaging	Het
Dvl1	G	A	4: 155,847,816	V28I	possibly damaging	Het
Dync1i2	T	A	2: 71,214,563		probably benign	Het
Fer1l6	T	A	15: 58,627,534	M1251K	probably benign	Het
Fmod	T	C	1: 134,040,518	Y99H	probably benign	Het
Fn1	A	T	1: 71,606,004	V1552D	probably damaging	Het
Fnip2	A	T	3: 79,500,432	S281T	probably damaging	Het
Glb1	A	G	9: 114,464,165	H536R	probably benign	Het
Glis2	T	A	16: 4,613,642	S344R	possibly damaging	Het
Gm1966	T	A	7: 106,603,008	H343L	possibly damaging	Het
Gm4847	A	T	1: 166,634,903	S339R	probably benign	Het
Gpr155	A	G	2: 73,356,658	S44P	probably benign	Het
Gprin1	G	A	13: 54,738,632	P610S	probably damaging	Het
H2-Ob	A	T	17: 34,242,580	M98L	probably benign	Het
Hist1h3e	T	C	13: 23,562,356	T4A	probably benign	Het
Hmcn2	T	C	2: 31,333,931		probably benign	Het
Ikbke	C	A	1: 131,273,474	V176L	probably damaging	Het
Il13	T	C	11: 53,632,524	T85A	possibly damaging	Het
Inpp5k	A	T	11: 75,647,191		probably null	Het
Irgm2	T	C	11: 58,220,529	S361P	possibly damaging	Het
Itga11	C	T	9: 62,732,204		probably benign	Het
Kalrn	G	T	16: 34,009,262		probably benign	Het
Kcng1	C	A	2: 168,269,032	G71C	probably damaging	Het
Kcnq5	T	A	1: 21,505,349	D291V	probably damaging	Het
Klhl7	A	T	5: 24,100,863	M37L	probably benign	Het
Letm1	A	AG	5: 33,769,515		probably null	Het
Lhx6	C	T	2: 36,087,466	V325I	probably benign	Het
Lipc	A	G	9: 70,934,535	I9T	possibly damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Mga	T	C	2: 119,964,157	V2565A	possibly damaging	Het
Mkl2	T	C	16: 13,412,586	I1045T	probably damaging	Het
Mpzl2	C	G	9: 45,044,173	D127E	probably benign	Het
Myh3	T	A	11: 67,091,056	C793S	probably benign	Het
Nomo1	T	C	7: 46,066,504	L765P	probably damaging	Het
Nup210	A	G	6: 91,028,876	I1335T	possibly damaging	Het
Olfr549	T	C	7: 102,555,060		probably null	Het
Oxr1	T	A	15: 41,819,944	S254R	probably damaging	Het
Pan3	A	G	5: 147,530,098	I592V	possibly damaging	Het
Pask	C	T	1: 93,321,297	A794T	probably benign	Het
Pex2	T	C	3: 5,561,590	E53G	probably damaging	Het
Pfkfb2	T	C	1: 130,698,723	T438A	probably benign	Het
Phactr4	T	C	4: 132,370,784	E391G	probably damaging	Het
Pira2	A	T	7: 3,844,345	L115Q	probably damaging	Het
Pkhd1l1	A	T	15: 44,512,877		probably null	Het
Pnlip	A	G	19: 58,676,444	S235G	probably benign	Het
Prkd1	A	G	12: 50,489,911	V130A	possibly damaging	Het
Ptpn13	A	G	5: 103,556,133	T1344A	probably benign	Het
Ptprc	T	C	1: 138,073,681	Y780C	probably damaging	Het
Pxn	T	A	5: 115,552,756		probably benign	Het
Rap1gap2	G	A	11: 74,425,976	T245M	probably damaging	Het
Rc3h1	G	T	1: 160,930,257	K48N	probably damaging	Het
Rfwd3	T	C	8: 111,282,613	I444V	probably benign	Het
Rictor	C	T	15: 6,765,107	R293C	probably damaging	Het
Rif1	T	A	2: 52,111,400	I1622N	possibly damaging	Het
Rnf213	T	C	11: 119,415,193	V609A	probably benign	Het
Scgb1b2	G	T	7: 31,291,763		probably benign	Het
Serac1	A	T	17: 6,050,785	I448N	probably damaging	Het
Sh3kbp1	C	A	X: 159,824,496	T200K	probably benign	Het
Sned1	T	A	1: 93,271,684	F495L	probably damaging	Het
Socs7	T	C	11: 97,373,124	F281L	probably benign	Het
Spta1	C	T	1: 174,212,614	L1214F	probably benign	Het
Ssu72	A	G	4: 155,705,443	E21G	probably damaging	Het
Syngr4	A	G	7: 45,887,040	V186A	probably benign	Het
Tarsl2	G	A	7: 65,655,791	M254I	possibly damaging	Het
Tmem130	C	A	5: 144,743,785	V270L	probably benign	Het
Trim66	A	T	7: 109,475,113	I647N	probably damaging	Het
Tspyl2	A	T	X: 152,338,894	D572E	probably benign	Het
Unc45b	G	A	11: 82,917,754	R222H	probably benign	Het
Uxs1	T	C	1: 43,827,623	Y29C	probably damaging	Het
Virma	T	A	4: 11,548,726		probably benign	Het
Vmn1r202	C	T	13: 22,501,783	G155S	possibly damaging	Het
Vmn2r24	T	A	6: 123,779,013	F15I	probably benign	Het
Wdr64	A	G	1: 175,767,095	T471A	probably benign	Het
Zfa-ps	T	A	10: 52,543,277		noncoding transcript	Het
Zfp260	A	G	7: 30,105,340	K222E	probably damaging	Het
Zfp300	A	G	X: 21,081,951	S525P	possibly damaging	Het
Zfp821	A	G	8: 109,724,347	D324G	probably damaging	Het
Zfp934	T	C	13: 62,517,834	D331G	probably damaging	Het
Zscan29	T	C	2: 121,170,106	R7G	probably damaging	Het

Other mutations in Mast1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Mast1	APN	8	84912815	missense	possibly damaging	0.87
IGL01862:Mast1	APN	8	84913246	splice site	probably null
IGL01918:Mast1	APN	8	84921209	missense	probably damaging	1.00
IGL02212:Mast1	APN	8	84921397	missense	probably damaging	1.00
IGL02221:Mast1	APN	8	84918755	missense	possibly damaging	0.92
IGL02370:Mast1	APN	8	84912254	missense	probably benign
IGL02470:Mast1	APN	8	84921212	missense	probably damaging	1.00
IGL02596:Mast1	APN	8	84917771	missense	probably benign
IGL02716:Mast1	APN	8	84935723	missense	probably damaging	1.00
IGL02987:Mast1	APN	8	84925719	missense	possibly damaging	0.75
IGL03287:Mast1	APN	8	84913353	missense	probably benign	0.01
R0255:Mast1	UTSW	8	84912021	missense	probably benign
R0388:Mast1	UTSW	8	84915537	missense	probably benign	0.13
R0480:Mast1	UTSW	8	84913089	missense	probably damaging	0.99
R0727:Mast1	UTSW	8	84921415	missense	probably damaging	1.00
R1175:Mast1	UTSW	8	84925327	missense	probably benign	0.29
R1297:Mast1	UTSW	8	84912716	missense	probably benign	0.05
R1328:Mast1	UTSW	8	84917988	intron	probably benign
R1454:Mast1	UTSW	8	84920635	missense	probably damaging	1.00
R1532:Mast1	UTSW	8	84928609	nonsense	probably null
R1752:Mast1	UTSW	8	84925336	missense	probably benign
R1777:Mast1	UTSW	8	84912068	missense	probably benign
R1905:Mast1	UTSW	8	84916266	missense	probably damaging	1.00
R1906:Mast1	UTSW	8	84916266	missense	probably damaging	1.00
R1907:Mast1	UTSW	8	84916266	missense	probably damaging	1.00
R2056:Mast1	UTSW	8	84920366	missense	possibly damaging	0.95
R2071:Mast1	UTSW	8	84921194	missense	probably damaging	1.00
R2318:Mast1	UTSW	8	84921125	missense	probably damaging	1.00
R2842:Mast1	UTSW	8	84923908	missense	probably damaging	1.00
R3870:Mast1	UTSW	8	84918731	missense	probably damaging	1.00
R3895:Mast1	UTSW	8	84935723	missense	probably damaging	1.00
R3973:Mast1	UTSW	8	84918764	missense	probably damaging	1.00
R4405:Mast1	UTSW	8	84920891	missense	probably damaging	1.00
R4533:Mast1	UTSW	8	84921361	missense	probably damaging	1.00
R4725:Mast1	UTSW	8	84929006	missense	possibly damaging	0.93
R4770:Mast1	UTSW	8	84929246	missense	probably benign	0.02
R4776:Mast1	UTSW	8	84937193	critical splice donor site	probably null
R4835:Mast1	UTSW	8	84923779	missense	probably damaging	1.00
R4871:Mast1	UTSW	8	84920658	missense	probably damaging	1.00
R4953:Mast1	UTSW	8	84918728	missense	probably damaging	0.99
R4960:Mast1	UTSW	8	84917871	missense	probably benign
R4978:Mast1	UTSW	8	84935787	missense	probably damaging	0.98
R5164:Mast1	UTSW	8	84913518	unclassified	probably benign
R5235:Mast1	UTSW	8	84913439	missense	probably damaging	1.00
R5297:Mast1	UTSW	8	84913318	critical splice donor site	probably null
R5463:Mast1	UTSW	8	84925507	missense	probably damaging	1.00
R5546:Mast1	UTSW	8	84916260	missense	probably damaging	1.00
R5651:Mast1	UTSW	8	84928968	nonsense	probably null
R6124:Mast1	UTSW	8	84925307	missense	probably benign	0.01
R6213:Mast1	UTSW	8	84915569	missense	probably damaging	1.00
R6717:Mast1	UTSW	8	84917754	missense	probably benign
R7000:Mast1	UTSW	8	84928969	missense	probably damaging	1.00
R7011:Mast1	UTSW	8	84911945	nonsense	probably null
R7164:Mast1	UTSW	8	84935304	missense	possibly damaging	0.81
R7695:Mast1	UTSW	8	84920928	missense	probably damaging	1.00
R7845:Mast1	UTSW	8	84925325	nonsense	probably null
R7882:Mast1	UTSW	8	84913318	critical splice donor site	probably null
R8167:Mast1	UTSW	8	84921358	missense	probably damaging	1.00
R8197:Mast1	UTSW	8	84912821	missense	possibly damaging	0.90
R8773:Mast1	UTSW	8	84916324	missense	probably damaging	1.00
R9477:Mast1	UTSW	8	84912150	missense	probably benign	0.18
R9526:Mast1	UTSW	8	84921176	missense	probably damaging	1.00
R9557:Mast1	UTSW	8	84930845	missense	probably damaging	1.00
R9655:Mast1	UTSW	8	84924031	missense	probably damaging	1.00
X0066:Mast1	UTSW	8	84920878	missense	probably damaging	1.00
Z1176:Mast1	UTSW	8	84912459	missense	probably damaging	0.97
Z1176:Mast1	UTSW	8	84918681	missense	probably damaging	1.00
Z1177:Mast1	UTSW	8	84920446	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TGGGTCTTCCAAGGAACAATGG -3'
(R):5'- AGTAAGTGGGTTGGACATGCC -3'

Sequencing Primer
(F):5'- TTCCAAGGAACAATGGGAGAG -3'
(R):5'- CATGCCAATTTCAGAGGGTGAC -3'

Posted On

2014-10-01