Mutagenetix > Incidental Mutation

Incidental Mutation 'R5586:Mast2'

438703

Institutional Source

Beutler Lab

Gene Symbol

Mast2

Ensembl Gene

ENSMUSG00000003810

Gene Name

microtubule associated serine/threonine kinase 2

Synonyms

MAST205, Mtssk

MMRRC Submission

043140-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116306762-116464183 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116435563 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 9 (L9P)

Ref Sequence

ENSEMBL: ENSMUSP00000003908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003908] [ENSMUST00000106484] [ENSMUST00000106485] [ENSMUST00000106486]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000003908
AA Change: L9P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000003908
Gene: ENSMUSG00000003810
AA Change: L9P

Domain	Start	End	E-Value	Type
low complexity region	38	49	N/A	INTRINSIC
low complexity region	56	63	N/A	INTRINSIC
Pfam:DUF1908	141	416	1.8e-148	PFAM
S_TKc	452	725	2.96e-99	SMART
S_TK_X	726	786	1.08e-1	SMART
low complexity region	849	861	N/A	INTRINSIC
low complexity region	1009	1028	N/A	INTRINSIC
PDZ	1049	1129	2.23e-12	SMART
low complexity region	1142	1157	N/A	INTRINSIC
low complexity region	1177	1210	N/A	INTRINSIC
low complexity region	1224	1249	N/A	INTRINSIC
low complexity region	1279	1302	N/A	INTRINSIC
low complexity region	1345	1360	N/A	INTRINSIC
low complexity region	1437	1452	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106484
AA Change: L9P

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102093
Gene: ENSMUSG00000003810
AA Change: L9P

Domain	Start	End	E-Value	Type
low complexity region	38	49	N/A	INTRINSIC
low complexity region	56	63	N/A	INTRINSIC
Pfam:DUF1908	141	423	1.3e-151	PFAM
S_TKc	459	732	2.96e-99	SMART
S_TK_X	733	793	1.08e-1	SMART
low complexity region	856	868	N/A	INTRINSIC
low complexity region	1016	1035	N/A	INTRINSIC
PDZ	1056	1136	2.23e-12	SMART
low complexity region	1149	1164	N/A	INTRINSIC
low complexity region	1184	1217	N/A	INTRINSIC
low complexity region	1233	1255	N/A	INTRINSIC
low complexity region	1285	1308	N/A	INTRINSIC
low complexity region	1351	1366	N/A	INTRINSIC
low complexity region	1443	1458	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106485
AA Change: L70P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000102094
Gene: ENSMUSG00000003810
AA Change: L70P

Domain	Start	End	E-Value	Type
low complexity region	7	26	N/A	INTRINSIC
low complexity region	27	41	N/A	INTRINSIC
low complexity region	99	110	N/A	INTRINSIC
low complexity region	117	124	N/A	INTRINSIC
Pfam:DUF1908	202	477	1.1e-148	PFAM
S_TKc	513	786	2.96e-99	SMART
S_TK_X	787	847	1.08e-1	SMART
low complexity region	910	922	N/A	INTRINSIC
low complexity region	1070	1089	N/A	INTRINSIC
PDZ	1110	1190	2.23e-12	SMART
low complexity region	1203	1218	N/A	INTRINSIC
low complexity region	1238	1271	N/A	INTRINSIC
low complexity region	1285	1310	N/A	INTRINSIC
low complexity region	1340	1363	N/A	INTRINSIC
low complexity region	1406	1421	N/A	INTRINSIC
low complexity region	1498	1513	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106486
AA Change: L70P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102095
Gene: ENSMUSG00000003810
AA Change: L70P

Domain	Start	End	E-Value	Type
low complexity region	7	26	N/A	INTRINSIC
low complexity region	27	41	N/A	INTRINSIC
low complexity region	99	110	N/A	INTRINSIC
low complexity region	117	124	N/A	INTRINSIC
Pfam:DUF1908	202	483	2.9e-143	PFAM
S_TKc	520	793	2.96e-99	SMART
S_TK_X	794	854	1.08e-1	SMART
low complexity region	917	929	N/A	INTRINSIC
low complexity region	1077	1096	N/A	INTRINSIC
PDZ	1117	1197	2.23e-12	SMART
low complexity region	1210	1225	N/A	INTRINSIC
low complexity region	1245	1278	N/A	INTRINSIC
low complexity region	1294	1316	N/A	INTRINSIC
low complexity region	1346	1369	N/A	INTRINSIC
low complexity region	1412	1427	N/A	INTRINSIC
low complexity region	1504	1519	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151347

Meta Mutation Damage Score

0.2469

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

98% (101/103)

MGI Phenotype

PHENOTYPE: No phenotype has been reported for a gene trap strain; however, it is not yet known whether the gene trap insertion affects expression of the gene. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,577,728		noncoding transcript	Het
Aaas	A	T	15: 102,346,676		probably null	Het
Abcc3	G	A	11: 94,364,421	R600W	probably damaging	Het
Abhd13	A	T	8: 9,988,318	Q305L	probably benign	Het
Adcy5	A	T	16: 35,157,116	I340F	probably damaging	Het
Adgrl3	T	A	5: 81,724,147	I964N	probably damaging	Het
Anks1b	T	A	10: 90,077,064	H316Q	probably damaging	Het
Ap3d1	A	T	10: 80,719,130	F454I	possibly damaging	Het
Apol7c	T	C	15: 77,526,399	R116G	possibly damaging	Het
Arhgap5	A	G	12: 52,519,912	E1222G	possibly damaging	Het
AW551984	A	G	9: 39,591,263	V673A	probably benign	Het
Baiap2l1	A	G	5: 144,282,139	S220P	probably damaging	Het
Bcl6	A	G	16: 23,973,176	F143L	probably benign	Het
Calb1	A	T	4: 15,900,811	T165S	probably benign	Het
Ccdc66	C	A	14: 27,506,711	G6C	probably damaging	Het
Ccdc88a	A	G	11: 29,503,484	I344V	probably benign	Het
Cdh19	T	A	1: 110,929,857	D249V	probably damaging	Het
Ces1c	T	A	8: 93,127,599	T103S	probably benign	Het
Cfap54	T	A	10: 92,972,611	K1401*	probably null	Het
Copa	T	A	1: 172,105,222	N371K	probably damaging	Het
Cyp2b10	A	T	7: 25,917,012	Y348F	probably damaging	Het
Dennd5a	T	C	7: 109,905,721	R861G	possibly damaging	Het
Dhx8	T	C	11: 101,733,036		probably benign	Het
Dido1	C	T	2: 180,659,652	W2153*	probably null	Het
Dlgap1	T	A	17: 70,818,161	V969D	probably damaging	Het
Dvl3	A	G	16: 20,517,289	D32G	probably damaging	Het
Epdr1	T	C	13: 19,594,548	D24G	probably benign	Het
Etnk2	T	A	1: 133,379,305		probably null	Het
Fam129a	C	T	1: 151,717,556	T664I	probably benign	Het
Fhad1	C	T	4: 141,905,131	M1232I	probably benign	Het
Gcnt2	A	C	13: 40,860,953	E200A	probably damaging	Het
Gm12800	T	A	4: 101,910,120	F189I	probably benign	Het
Gm5174	A	G	10: 86,656,545		noncoding transcript	Het
Gm6408	T	A	5: 146,484,457	F299I	possibly damaging	Het
Gpr85	G	T	6: 13,836,001	Y301*	probably null	Het
Gucy2e	G	T	11: 69,226,256	P780T	probably damaging	Het
Icam5	A	T	9: 21,034,820	N316I	probably damaging	Het
Ifit1bl1	C	T	19: 34,594,277	R260Q	probably damaging	Het
Il1r1	A	C	1: 40,225,251		probably benign	Het
Kif3c	A	T	12: 3,389,656	I86F	probably benign	Het
Klhdc2	A	G	12: 69,307,693		probably null	Het
Mcoln1	G	T	8: 3,510,389	C316F	probably damaging	Het
Mon1a	A	T	9: 107,898,695	D4V	probably damaging	Het
Ms4a18	T	A	19: 11,013,674	M19L	probably benign	Het
Nbea	T	C	3: 55,631,971	K2790E	probably benign	Het
Noc3l	C	T	19: 38,814,695	E167K	possibly damaging	Het
Nol10	G	A	12: 17,416,828	E570K	possibly damaging	Het
Nr2e3	T	C	9: 59,949,201	R69G	probably damaging	Het
Obscn	G	A	11: 59,001,468	R1358*	probably null	Het
Olfr115	A	T	17: 37,610,254	F166I	probably damaging	Het
Olfr1472	A	T	19: 13,454,382	M45K	probably benign	Het
Olfr1535	C	A	13: 21,555,096	V309F	probably damaging	Het
Olfr675	A	G	7: 105,024,221	I253T	probably damaging	Het
Pak2	A	T	16: 32,041,519	D175E	probably benign	Het
Pccb	C	T	9: 100,985,803	V357I	possibly damaging	Het
Pcdhb4	C	T	18: 37,308,981	P448L	probably damaging	Het
Pcdhb9	A	G	18: 37,401,114	M54V	probably benign	Het
Ppp3cb	A	G	14: 20,520,690		probably benign	Het
Ppp4r1	A	G	17: 65,824,568	D452G	probably benign	Het
Prmt3	T	A	7: 49,826,751	D369E	probably damaging	Het
Psmd12	T	A	11: 107,486,475	V120D	probably benign	Het
Ptprb	T	C	10: 116,353,827	L1797P	probably damaging	Het
Ptprm	A	G	17: 66,920,196	S653P	probably damaging	Het
Pxdn	T	A	12: 30,003,142	V926D	probably damaging	Het
Retreg3	T	G	11: 101,106,339	Q105P	probably damaging	Het
Sacs	A	T	14: 61,206,441	R1979*	probably null	Het
Scn2a	T	A	2: 65,707,295	L696*	probably null	Het
Sema3c	A	T	5: 17,711,424	N465Y	probably damaging	Het
Slc25a32	A	T	15: 39,099,913	V171E	possibly damaging	Het
Slc30a7	C	T	3: 115,990,051	V158I	probably benign	Het
Slc44a5	G	A	3: 154,270,165		probably benign	Het
Slc4a8	A	G	15: 100,787,164	D140G	probably damaging	Het
Slc7a11	G	A	3: 50,443,083	S60L	possibly damaging	Het
Spryd3	A	T	15: 102,131,937	H59Q	probably benign	Het
Sqstm1	T	C	11: 50,203,022	D256G	probably damaging	Het
Sst	A	T	16: 23,889,737	S115T	probably damaging	Het
Surf1	T	C	2: 26,915,951		probably benign	Het
Synj1	A	T	16: 91,009,977		probably benign	Het
Tet1	C	A	10: 62,878,294	C574F	probably damaging	Het
Thnsl1	T	A	2: 21,212,390	Y318*	probably null	Het
Tmem110	A	G	14: 30,870,819	K166E	probably damaging	Het
Tomm70a	A	G	16: 57,122,130	E90G	probably damaging	Het
Treml4	A	G	17: 48,264,899	D110G	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Txnl1	C	T	18: 63,664,325	G283D	probably damaging	Het
Uba6	T	C	5: 86,135,047	D559G	probably damaging	Het
Usp4	T	C	9: 108,356,462	V94A	possibly damaging	Het
Vmn2r25	A	C	6: 123,825,296	C549W	probably damaging	Het
Vmn2r59	G	T	7: 42,045,681	Q436K	probably benign	Het
Wdr70	A	T	15: 7,884,288	Y627N	possibly damaging	Het
Xpr1	T	C	1: 155,312,863	I344V	probably benign	Het
Zfp423	T	A	8: 87,859,340	Q61L	possibly damaging	Het

Other mutations in Mast2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Mast2	APN	4	116311329	missense	probably benign	0.39
IGL00916:Mast2	APN	4	116327633	missense	possibly damaging	0.88
IGL02112:Mast2	APN	4	116319764	missense	probably damaging	1.00
R0645:Mast2	UTSW	4	116307987	missense	probably damaging	1.00
R0645:Mast2	UTSW	4	116312846	splice site	probably benign
R0883:Mast2	UTSW	4	116311767	missense	probably damaging	1.00
R1447:Mast2	UTSW	4	116312013	missense	probably benign	0.02
R1449:Mast2	UTSW	4	116309013	missense	probably damaging	1.00
R1473:Mast2	UTSW	4	116311955	missense	probably damaging	1.00
R1491:Mast2	UTSW	4	116316491	missense	possibly damaging	0.90
R1529:Mast2	UTSW	4	116430519	missense	probably benign	0.17
R1654:Mast2	UTSW	4	116316550	critical splice acceptor site	probably null
R1768:Mast2	UTSW	4	116306959	missense	probably damaging	1.00
R1807:Mast2	UTSW	4	116310741	splice site	probably benign
R1981:Mast2	UTSW	4	116314840	missense	probably damaging	1.00
R2081:Mast2	UTSW	4	116330474	splice site	probably null
R2157:Mast2	UTSW	4	116322283	missense	probably damaging	1.00
R3409:Mast2	UTSW	4	116310910	missense	possibly damaging	0.94
R3411:Mast2	UTSW	4	116310910	missense	possibly damaging	0.94
R3434:Mast2	UTSW	4	116308095	missense	probably benign	0.00
R3435:Mast2	UTSW	4	116308095	missense	probably benign	0.00
R3953:Mast2	UTSW	4	116313729	missense	probably damaging	1.00
R4056:Mast2	UTSW	4	116337501	splice site	probably benign
R4153:Mast2	UTSW	4	116315963	missense	possibly damaging	0.91
R4648:Mast2	UTSW	4	116314839	nonsense	probably null
R4671:Mast2	UTSW	4	116308650	missense	probably damaging	1.00
R4911:Mast2	UTSW	4	116353057	missense	probably benign	0.36
R4980:Mast2	UTSW	4	116317751	missense	probably damaging	1.00
R5322:Mast2	UTSW	4	116333411	critical splice donor site	probably null
R5462:Mast2	UTSW	4	116307458	missense	probably damaging	0.99
R5750:Mast2	UTSW	4	116308889	intron	probably benign
R5771:Mast2	UTSW	4	116333425	missense	possibly damaging	0.60
R5885:Mast2	UTSW	4	116314838	missense	probably damaging	1.00
R6230:Mast2	UTSW	4	116326098	missense	probably damaging	1.00
R6347:Mast2	UTSW	4	116317732	missense	probably damaging	1.00
R6527:Mast2	UTSW	4	116314939	missense	probably damaging	0.99
R6619:Mast2	UTSW	4	116316497	nonsense	probably null
R7070:Mast2	UTSW	4	116310855	missense	probably benign	0.03
R7303:Mast2	UTSW	4	116308311	missense	possibly damaging	0.63
R7822:Mast2	UTSW	4	116312873	missense	probably damaging	1.00
R7843:Mast2	UTSW	4	116353011	missense	probably damaging	0.98
R7918:Mast2	UTSW	4	116435535	missense	possibly damaging	0.50
R7939:Mast2	UTSW	4	116430471	missense	probably benign	0.09
R8052:Mast2	UTSW	4	116312975	missense	probably damaging	0.99
R8115:Mast2	UTSW	4	116435447	missense	probably benign	0.01
R8312:Mast2	UTSW	4	116430486	missense	probably benign
R8398:Mast2	UTSW	4	116308749	missense	probably damaging	1.00
R8477:Mast2	UTSW	4	116307210	missense	probably benign	0.43
R8759:Mast2	UTSW	4	116435560	missense	possibly damaging	0.80
R8832:Mast2	UTSW	4	116311678	critical splice donor site	probably null
R9245:Mast2	UTSW	4	116310504	missense	probably damaging	1.00
R9261:Mast2	UTSW	4	116308703	missense	probably damaging	1.00
R9530:Mast2	UTSW	4	116312338	missense	probably damaging	1.00
R9642:Mast2	UTSW	4	116313769	missense	probably damaging	0.99
R9709:Mast2	UTSW	4	116315847	missense	probably damaging	1.00
R9745:Mast2	UTSW	4	116310618	missense	probably benign	0.00
R9746:Mast2	UTSW	4	116311730	missense	probably benign	0.01
R9752:Mast2	UTSW	4	116322311	missense	probably benign	0.06
X0003:Mast2	UTSW	4	116307647	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TTCTGGAGGTTGAACCCAGG -3'
(R):5'- ACTGTAGTACTTTTGGGTCAGTAAG -3'

Sequencing Primer
(F):5'- CTGGAGGTTGAACCCAGGTTATATAC -3'
(R):5'- ATCCTCTGGGACTGCTGTTAACAG -3'

Posted On

2016-10-26