Mutagenetix > Incidental Mutation

Incidental Mutation 'R4648:Mast2'

350470

Institutional Source

Beutler Lab

Gene Symbol

Mast2

Ensembl Gene

ENSMUSG00000003810

Gene Name

microtubule associated serine/threonine kinase 2

Synonyms

MAST205, Mtssk

MMRRC Submission

041909-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4648 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116163957-116321420 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 116172036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 637 (Y637*)

Ref Sequence

ENSEMBL: ENSMUSP00000102095 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000003908
AA Change: Y569*

SMART Domains

Protein: ENSMUSP00000003908
Gene: ENSMUSG00000003810
AA Change: Y569*

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

probably null
Transcript: ENSMUST00000106484
AA Change: Y576*

SMART Domains

Protein: ENSMUSP00000102093
Gene: ENSMUSG00000003810
AA Change: Y576*

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 null
Transcript: ENSMUST00000106485
AA Change: Y630*

SMART Domains

Protein: ENSMUSP00000102094
Gene: ENSMUSG00000003810
AA Change: Y630*

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 null
Transcript: ENSMUST00000106486
AA Change: Y637*

SMART Domains

Protein: ENSMUSP00000102095
Gene: ENSMUSG00000003810
AA Change: Y637*

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: ENSMUST00000123761

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131809

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156884

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147459

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700031F05Rik	G	T	X: 101,904,515 (GRCm39)	N132K	possibly damaging	Het
2010315B03Rik	T	A	9: 124,056,228 (GRCm39)	Y232F	probably benign	Het
2310079G19Rik	T	C	16: 88,424,255 (GRCm39)	S79G	probably benign	Het
4930568D16Rik	T	A	2: 35,244,458 (GRCm39)	Y298F	probably damaging	Het
Alpk2	A	G	18: 65,482,953 (GRCm39)	F352L	probably damaging	Het
Angpt1	T	A	15: 42,539,580 (GRCm39)	Y93F	probably benign	Het
Ankrd33b	T	C	15: 31,325,170 (GRCm39)	*129W	probably null	Het
Atp5pf	T	C	16: 84,625,343 (GRCm39)	M87V	probably benign	Het
Atp8b3	A	G	10: 80,361,457 (GRCm39)	S822P	possibly damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bbs2	A	T	8: 94,807,507 (GRCm39)	V429E	probably damaging	Het
Bccip	C	T	7: 133,316,628 (GRCm39)	L83F	probably damaging	Het
Brd9	G	A	13: 74,088,895 (GRCm39)	V198I	probably benign	Het
C1galt1c1	A	T	X: 37,720,349 (GRCm39)	S216T	probably benign	Het
Calhm1	A	G	19: 47,132,240 (GRCm39)	L125P	probably damaging	Het
Ccdc110	A	T	8: 46,395,705 (GRCm39)	Q532L	possibly damaging	Het
Cdh19	G	A	1: 110,852,907 (GRCm39)	L343F	probably benign	Het
Cep350	A	G	1: 155,778,344 (GRCm39)	S1653P	possibly damaging	Het
Cmtm4	A	G	8: 105,082,952 (GRCm39)	I135T	possibly damaging	Het
Cmya5	A	G	13: 93,230,336 (GRCm39)	L1584P	possibly damaging	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Crp	A	G	1: 172,525,704 (GRCm39)	M1V	probably null	Het
Csmd1	G	A	8: 16,048,788 (GRCm39)	Q2305*	probably null	Het
Cyp2c38	T	A	19: 39,449,132 (GRCm39)	I74F	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcaf1	A	T	9: 106,742,876 (GRCm39)		probably benign	Het
Dhx16	C	G	17: 36,196,527 (GRCm39)	A565G	probably benign	Het
Dock7	C	A	4: 98,857,881 (GRCm39)	E1448*	probably null	Het
Dpf2	C	T	19: 5,957,109 (GRCm39)	R38H	probably damaging	Het
E030030I06Rik	T	A	10: 22,024,744 (GRCm39)	R56S	unknown	Het
Etnk1	A	G	6: 143,141,000 (GRCm39)	Y248C	probably damaging	Het
Ext1	A	G	15: 52,953,383 (GRCm39)	S494P	possibly damaging	Het
Gk2	T	C	5: 97,603,579 (GRCm39)	S420G	probably benign	Het
Gm26596	T	C	10: 112,765,064 (GRCm39)		probably benign	Het
Gm5414	G	T	15: 101,536,543 (GRCm39)	N27K	possibly damaging	Het
Gskip	A	G	12: 105,664,988 (GRCm39)	D9G	probably benign	Het
H2-K2	T	A	17: 34,194,989 (GRCm39)		noncoding transcript	Het
Hk1	T	G	10: 62,140,558 (GRCm39)	S105R	probably benign	Het
Hmg20b	T	A	10: 81,184,416 (GRCm39)	Q129L	probably damaging	Het
Idnk	A	G	13: 58,310,683 (GRCm39)	D67G	probably benign	Het
Igfbp5	G	T	1: 72,903,222 (GRCm39)	H118N	probably benign	Het
Irf4	A	T	13: 30,947,580 (GRCm39)	Y427F	probably benign	Het
Khdc3	A	G	9: 73,009,868 (GRCm39)	E26G	possibly damaging	Het
Kif7	T	C	7: 79,358,939 (GRCm39)	D512G	probably damaging	Het
Lamb3	T	A	1: 193,013,665 (GRCm39)	I513N	probably damaging	Het
Lipo3	A	G	19: 33,760,860 (GRCm39)	L174P	probably damaging	Het
Lnx1	C	T	5: 74,771,457 (GRCm39)	V350I	probably benign	Het
Map3k21	A	G	8: 126,668,850 (GRCm39)	D812G	probably benign	Het
Matn2	T	C	15: 34,428,679 (GRCm39)	I681T	probably damaging	Het
Med18	A	T	4: 132,190,274 (GRCm39)	V37D	possibly damaging	Het
Mip	T	A	10: 128,062,922 (GRCm39)	H122Q	probably benign	Het
Mmp13	A	T	9: 7,274,233 (GRCm39)	D180V	probably damaging	Het
Mpg	C	A	11: 32,180,034 (GRCm39)	C187*	probably null	Het
Mtmr14	A	G	6: 113,237,567 (GRCm39)	E256G	probably benign	Het
Myo7b	C	T	18: 32,100,178 (GRCm39)		probably null	Het
Nhsl3	G	T	4: 129,115,733 (GRCm39)	T977K	probably benign	Het
Nmt1	T	A	11: 102,954,743 (GRCm39)	V425D	probably damaging	Het
Nynrin	T	A	14: 56,110,351 (GRCm39)	Y1819*	probably null	Het
Or10ak16	A	G	4: 118,751,147 (GRCm39)	N289S	possibly damaging	Het
Or4c107	T	A	2: 88,789,556 (GRCm39)	F249I	probably damaging	Het
Or5i1	T	C	2: 87,613,565 (GRCm39)	V227A	possibly damaging	Het
Otof	T	C	5: 30,540,914 (GRCm39)	E875G	possibly damaging	Het
Paqr3	T	A	5: 97,256,069 (GRCm39)	R102*	probably null	Het
Phc1	T	C	6: 122,298,872 (GRCm39)	I699V	possibly damaging	Het
Prkdc	T	G	16: 15,634,638 (GRCm39)	D3594E	probably benign	Het
Pstpip1	A	T	9: 56,032,502 (GRCm39)	D246V	probably damaging	Het
Rbm46	A	T	3: 82,771,765 (GRCm39)	D283E	probably benign	Het
Ror2	A	T	13: 53,439,536 (GRCm39)	C9*	probably null	Het
Setd1b	C	T	5: 123,286,175 (GRCm39)	A407V	unknown	Het
Slc26a4	T	G	12: 31,590,525 (GRCm39)	D376A	possibly damaging	Het
Smarcad1	A	G	6: 65,044,073 (GRCm39)	E215G	probably benign	Het
Spag16	G	A	1: 69,866,194 (GRCm39)	R11Q	probably null	Het
Sult1d1	T	A	5: 87,713,954 (GRCm39)	Q30L	probably benign	Het
Tbc1d5	A	G	17: 51,043,251 (GRCm39)	C746R	probably benign	Het
Tdh	A	G	14: 63,731,205 (GRCm39)	L323P	possibly damaging	Het
Tet2	A	T	3: 133,193,843 (GRCm39)	M197K	probably benign	Het
Tnn	T	C	1: 159,973,612 (GRCm39)	M252V	probably benign	Het
Trdn	G	T	10: 33,071,977 (GRCm39)	E215*	probably null	Het
Trem1	G	A	17: 48,551,590 (GRCm39)	V84I	probably benign	Het
Tspan5	T	C	3: 138,604,076 (GRCm39)	F154L	probably damaging	Het
Usp45	A	G	4: 21,825,044 (GRCm39)	R647G	probably benign	Het
Usp50	T	A	2: 126,619,953 (GRCm39)	I120F	probably damaging	Het
Vil1	T	C	1: 74,471,457 (GRCm39)	M746T	probably benign	Het
Washc4	T	A	10: 83,410,407 (GRCm39)	M665K	possibly damaging	Het
Zfp750	T	C	11: 121,402,706 (GRCm39)	T681A	probably benign	Het

Other mutations in Mast2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Mast2	APN	4	116,168,526 (GRCm39)	missense	probably benign	0.39
IGL00916:Mast2	APN	4	116,184,830 (GRCm39)	missense	possibly damaging	0.88
IGL02112:Mast2	APN	4	116,176,961 (GRCm39)	missense	probably damaging	1.00
R0645:Mast2	UTSW	4	116,170,043 (GRCm39)	splice site	probably benign
R0645:Mast2	UTSW	4	116,165,184 (GRCm39)	missense	probably damaging	1.00
R0883:Mast2	UTSW	4	116,168,964 (GRCm39)	missense	probably damaging	1.00
R1447:Mast2	UTSW	4	116,169,210 (GRCm39)	missense	probably benign	0.02
R1449:Mast2	UTSW	4	116,166,210 (GRCm39)	missense	probably damaging	1.00
R1473:Mast2	UTSW	4	116,169,152 (GRCm39)	missense	probably damaging	1.00
R1491:Mast2	UTSW	4	116,173,688 (GRCm39)	missense	possibly damaging	0.90
R1529:Mast2	UTSW	4	116,287,716 (GRCm39)	missense	probably benign	0.17
R1654:Mast2	UTSW	4	116,173,747 (GRCm39)	critical splice acceptor site	probably null
R1768:Mast2	UTSW	4	116,164,156 (GRCm39)	missense	probably damaging	1.00
R1807:Mast2	UTSW	4	116,167,938 (GRCm39)	splice site	probably benign
R1981:Mast2	UTSW	4	116,172,037 (GRCm39)	missense	probably damaging	1.00
R2081:Mast2	UTSW	4	116,187,671 (GRCm39)	splice site	probably null
R2157:Mast2	UTSW	4	116,179,480 (GRCm39)	missense	probably damaging	1.00
R3409:Mast2	UTSW	4	116,168,107 (GRCm39)	missense	possibly damaging	0.94
R3411:Mast2	UTSW	4	116,168,107 (GRCm39)	missense	possibly damaging	0.94
R3434:Mast2	UTSW	4	116,165,292 (GRCm39)	missense	probably benign	0.00
R3435:Mast2	UTSW	4	116,165,292 (GRCm39)	missense	probably benign	0.00
R3953:Mast2	UTSW	4	116,170,926 (GRCm39)	missense	probably damaging	1.00
R4056:Mast2	UTSW	4	116,194,698 (GRCm39)	splice site	probably benign
R4153:Mast2	UTSW	4	116,173,160 (GRCm39)	missense	possibly damaging	0.91
R4671:Mast2	UTSW	4	116,165,847 (GRCm39)	missense	probably damaging	1.00
R4911:Mast2	UTSW	4	116,210,254 (GRCm39)	missense	probably benign	0.36
R4980:Mast2	UTSW	4	116,174,948 (GRCm39)	missense	probably damaging	1.00
R5322:Mast2	UTSW	4	116,190,608 (GRCm39)	critical splice donor site	probably null
R5462:Mast2	UTSW	4	116,164,655 (GRCm39)	missense	probably damaging	0.99
R5586:Mast2	UTSW	4	116,292,760 (GRCm39)	missense	probably damaging	0.99
R5750:Mast2	UTSW	4	116,166,086 (GRCm39)	intron	probably benign
R5771:Mast2	UTSW	4	116,190,622 (GRCm39)	missense	possibly damaging	0.60
R5885:Mast2	UTSW	4	116,172,035 (GRCm39)	missense	probably damaging	1.00
R6230:Mast2	UTSW	4	116,183,295 (GRCm39)	missense	probably damaging	1.00
R6347:Mast2	UTSW	4	116,174,929 (GRCm39)	missense	probably damaging	1.00
R6527:Mast2	UTSW	4	116,172,136 (GRCm39)	missense	probably damaging	0.99
R6619:Mast2	UTSW	4	116,173,694 (GRCm39)	nonsense	probably null
R7070:Mast2	UTSW	4	116,168,052 (GRCm39)	missense	probably benign	0.03
R7303:Mast2	UTSW	4	116,165,508 (GRCm39)	missense	possibly damaging	0.63
R7822:Mast2	UTSW	4	116,170,070 (GRCm39)	missense	probably damaging	1.00
R7843:Mast2	UTSW	4	116,210,208 (GRCm39)	missense	probably damaging	0.98
R7918:Mast2	UTSW	4	116,292,732 (GRCm39)	missense	possibly damaging	0.50
R7939:Mast2	UTSW	4	116,287,668 (GRCm39)	missense	probably benign	0.09
R8052:Mast2	UTSW	4	116,170,172 (GRCm39)	missense	probably damaging	0.99
R8115:Mast2	UTSW	4	116,292,644 (GRCm39)	missense	probably benign	0.01
R8312:Mast2	UTSW	4	116,287,683 (GRCm39)	missense	probably benign
R8398:Mast2	UTSW	4	116,165,946 (GRCm39)	missense	probably damaging	1.00
R8477:Mast2	UTSW	4	116,164,407 (GRCm39)	missense	probably benign	0.43
R8759:Mast2	UTSW	4	116,292,757 (GRCm39)	missense	possibly damaging	0.80
R8832:Mast2	UTSW	4	116,168,875 (GRCm39)	critical splice donor site	probably null
R9245:Mast2	UTSW	4	116,167,701 (GRCm39)	missense	probably damaging	1.00
R9261:Mast2	UTSW	4	116,165,900 (GRCm39)	missense	probably damaging	1.00
R9530:Mast2	UTSW	4	116,169,535 (GRCm39)	missense	probably damaging	1.00
R9642:Mast2	UTSW	4	116,170,966 (GRCm39)	missense	probably damaging	0.99
R9709:Mast2	UTSW	4	116,173,044 (GRCm39)	missense	probably damaging	1.00
R9745:Mast2	UTSW	4	116,167,815 (GRCm39)	missense	probably benign	0.00
R9746:Mast2	UTSW	4	116,168,927 (GRCm39)	missense	probably benign	0.01
R9752:Mast2	UTSW	4	116,179,508 (GRCm39)	missense	probably benign	0.06
X0003:Mast2	UTSW	4	116,164,844 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ATGAGTGGCATCTGACAGAG -3'
(R):5'- AAGCCTAAGAACTGACTGGAGC -3'

Sequencing Primer
(F):5'- CAGAGGTCTGTGTTTCAAAGC -3'
(R):5'- CAGGGTCCTGGATCATGATAGC -3'

Posted On

2015-10-08