Mutagenetix > Incidental Mutation

Incidental Mutation 'R2157:Mast2'

234891

Institutional Source

Beutler Lab

Gene Symbol

Mast2

Ensembl Gene

ENSMUSG00000003810

Gene Name

microtubule associated serine/threonine kinase 2

Synonyms

MAST205, Mtssk

MMRRC Submission

040160-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116163957-116321420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116179480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 398 (L398S)

Ref Sequence

ENSEMBL: ENSMUSP00000102095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003908] [ENSMUST00000106484] [ENSMUST00000106485] [ENSMUST00000106486] [ENSMUST00000123072]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000003908
AA Change: L330S

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

SMART Domains

Protein: ENSMUSP00000003908
Gene: ENSMUSG00000003810
AA Change: L330S

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 damaging
Transcript: ENSMUST00000106484
AA Change: L337S

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

SMART Domains

Protein: ENSMUSP00000102093
Gene: ENSMUSG00000003810
AA Change: L337S

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 damaging
Transcript: ENSMUST00000106485
AA Change: L391S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102094
Gene: ENSMUSG00000003810
AA Change: L391S

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: L398S

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

SMART Domains

Protein: ENSMUSP00000102095
Gene: ENSMUSG00000003810
AA Change: L398S

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

probably benign
Transcript: ENSMUST00000123072

SMART Domains

Protein: ENSMUSP00000118340
Gene: ENSMUSG00000003810

Domain	Start	End	E-Value	Type
Pfam:DUF1908	58	203	2.9e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128252

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156884

Meta Mutation Damage Score

0.8230

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	T	8: 125,378,168 (GRCm39)		probably benign	Het
4930590J08Rik	T	A	6: 91,919,468 (GRCm39)	M709K	possibly damaging	Het
4930590J08Rik	A	G	6: 91,894,679 (GRCm39)		probably null	Het
A930011G23Rik	T	G	5: 99,379,956 (GRCm39)	I394L	probably damaging	Het
Abca13	A	C	11: 9,527,170 (GRCm39)	M4528L	probably damaging	Het
Abcb1b	G	A	5: 8,874,791 (GRCm39)	A484T	probably benign	Het
Actn1	A	T	12: 80,219,891 (GRCm39)	M660K	probably benign	Het
Adgra3	G	T	5: 50,159,283 (GRCm39)	N322K	possibly damaging	Het
Ahnak	A	G	19: 8,978,048 (GRCm39)	I56V	possibly damaging	Het
Amotl2	A	G	9: 102,607,788 (GRCm39)		probably benign	Het
Apoa1	T	C	9: 46,140,471 (GRCm39)	V34A	probably damaging	Het
Arrdc1	G	A	2: 24,816,987 (GRCm39)	A113V	probably damaging	Het
As3mt	A	G	19: 46,696,231 (GRCm39)	D13G	probably benign	Het
Cald1	A	G	6: 34,662,976 (GRCm39)	Q13R	possibly damaging	Het
Ccdc28a	G	A	10: 18,106,203 (GRCm39)	T41I	probably benign	Het
Ccdc30	A	T	4: 119,190,921 (GRCm39)		probably benign	Het
Cct2	T	C	10: 116,898,714 (GRCm39)		probably benign	Het
Cdh12	T	C	15: 21,583,873 (GRCm39)	I571T	possibly damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Ckm	T	C	7: 19,155,279 (GRCm39)	S372P	probably benign	Het
Comp	C	T	8: 70,832,220 (GRCm39)	Q554*	probably null	Het
Csf2ra	T	C	19: 61,215,509 (GRCm39)	T70A	probably benign	Het
Csmd3	T	C	15: 47,559,183 (GRCm39)	E2256G	probably damaging	Het
Dicer1	A	T	12: 104,669,208 (GRCm39)	V1158D	probably benign	Het
Dner	A	G	1: 84,361,659 (GRCm39)	F650S	possibly damaging	Het
Dnm3	T	C	1: 162,135,462 (GRCm39)	N437S	possibly damaging	Het
Dpy19l2	T	C	9: 24,592,076 (GRCm39)	I176V	probably benign	Het
Dpy19l2	A	T	9: 24,495,928 (GRCm39)	C597S	probably benign	Het
Edf1	T	C	2: 25,448,043 (GRCm39)		probably null	Het
Eif1ad16	A	T	12: 87,985,481 (GRCm39)	S21T	unknown	Het
Enpp3	A	G	10: 24,652,776 (GRCm39)	F727S	probably damaging	Het
Epb42	C	T	2: 120,852,243 (GRCm39)	M583I	probably benign	Het
Foxred1	A	G	9: 35,116,659 (GRCm39)	F117S	probably damaging	Het
Fstl5	T	A	3: 76,615,372 (GRCm39)	M811K	possibly damaging	Het
Gm5117	A	T	8: 32,228,222 (GRCm39)		noncoding transcript	Het
Gpm6a	T	C	8: 55,511,833 (GRCm39)	S236P	probably damaging	Het
Grik1	G	A	16: 87,853,012 (GRCm39)	A57V	probably damaging	Het
Hdgfl2	G	A	17: 56,405,691 (GRCm39)	V476I	possibly damaging	Het
Il17b	G	T	18: 61,823,439 (GRCm39)	W91L	probably damaging	Het
Jph4	C	A	14: 55,350,984 (GRCm39)	R344L	probably benign	Het
Map3k21	A	G	8: 126,664,005 (GRCm39)	D522G	probably benign	Het
Mbtd1	A	G	11: 93,801,214 (GRCm39)	T132A	probably benign	Het
Mbtps1	G	T	8: 120,269,466 (GRCm39)	T208K	probably benign	Het
Mr1	A	G	1: 155,022,376 (GRCm39)		probably null	Het
Mthfsd	G	A	8: 121,828,240 (GRCm39)	L140F	probably damaging	Het
Mybpc2	C	G	7: 44,159,269 (GRCm39)	D594H	possibly damaging	Het
Nalcn	T	C	14: 123,647,164 (GRCm39)	M570V	probably benign	Het
Ncam2	T	C	16: 81,287,277 (GRCm39)	I397T	probably damaging	Het
Ndufs4	C	T	13: 114,453,514 (GRCm39)	V75I	probably damaging	Het
Nek4	T	A	14: 30,701,925 (GRCm39)		probably null	Het
Nfatc1	G	T	18: 80,679,060 (GRCm39)	A762D	possibly damaging	Het
Nhsl3	C	T	4: 129,117,917 (GRCm39)	R249H	possibly damaging	Het
Npc1	A	G	18: 12,324,866 (GRCm39)	I1209T	probably damaging	Het
Or10k2	T	C	8: 84,268,250 (GRCm39)	I159T	probably benign	Het
Or4c11	A	T	2: 88,695,213 (GRCm39)	N88I	probably benign	Het
Pak5	T	C	2: 135,942,877 (GRCm39)	D421G	probably damaging	Het
Pias1	A	G	9: 62,820,112 (GRCm39)	V285A	possibly damaging	Het
Pigg	T	A	5: 108,466,755 (GRCm39)	I212N	probably damaging	Het
Plcd3	A	T	11: 102,961,974 (GRCm39)	C711S	probably benign	Het
Plscr5	G	A	9: 92,080,550 (GRCm39)	R12K	probably benign	Het
Plxna4	T	C	6: 32,493,909 (GRCm39)	I236V	probably benign	Het
Ppp1r26	T	C	2: 28,342,370 (GRCm39)	F667L	probably benign	Het
Prkx	A	G	X: 76,814,920 (GRCm39)	F247L	probably benign	Het
Qpct	G	A	17: 79,378,115 (GRCm39)	R95Q	probably benign	Het
Ralgapb	G	T	2: 158,279,392 (GRCm39)	M159I	probably benign	Het
Rnf145	T	C	11: 44,445,997 (GRCm39)	L277P	probably damaging	Het
Scn9a	A	G	2: 66,366,669 (GRCm39)	S705P	probably damaging	Het
Slc4a8	A	G	15: 100,704,254 (GRCm39)	T750A	probably damaging	Het
Slc66a1	A	T	4: 139,029,166 (GRCm39)	V106D	probably damaging	Het
Syne2	A	G	12: 76,141,230 (GRCm39)	E6114G	probably damaging	Het
Tat	T	C	8: 110,724,236 (GRCm39)	M375T	probably damaging	Het
Tex10	C	T	4: 48,436,522 (GRCm39)		probably benign	Het
Tmprss11e	T	C	5: 86,861,587 (GRCm39)	K320E	probably benign	Het
Tnr	T	C	1: 159,685,840 (GRCm39)	I357T	probably damaging	Het
Vmn1r229	A	T	17: 21,035,638 (GRCm39)	R294S	possibly damaging	Het
Vmn2r116	G	A	17: 23,620,443 (GRCm39)	D726N	probably damaging	Het
Vpreb1b	T	A	16: 17,798,934 (GRCm39)	L140*	probably null	Het
Wfs1	G	A	5: 37,125,286 (GRCm39)	P535L	probably damaging	Het
Xdh	A	G	17: 74,229,532 (GRCm39)	L307P	probably damaging	Het
Zfp160	A	G	17: 21,241,090 (GRCm39)	S53G	probably benign	Het
Zfp319	A	G	8: 96,054,659 (GRCm39)	C515R	probably damaging	Het
Zfp747	A	G	7: 126,974,929 (GRCm39)	F24L	possibly damaging	Het
Zzef1	A	T	11: 72,739,460 (GRCm39)		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
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
R4648:Mast2	UTSW	4	116,172,036 (GRCm39)	nonsense	probably null
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'- TGAAACCAAGCAGGCTTCTC -3'
(R):5'- CCACTGCACAGATGGAAGAG -3'

Sequencing Primer
(F):5'- GAAACCAAGCAGGCTTCTCTTAGTG -3'
(R):5'- GCGACTAGCTGACTTCATTTC -3'

Posted On

2014-10-01