Mutagenetix > Incidental Mutation

Incidental Mutation 'R5771:Mast2'

445350

Institutional Source

Beutler Lab

Gene Symbol

Mast2

Ensembl Gene

ENSMUSG00000003810

Gene Name

microtubule associated serine/threonine kinase 2

Synonyms

MAST205, Mtssk

MMRRC Submission

043371-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5771 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116163957-116321420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116190622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 83 (H83L)

Ref Sequence

ENSEMBL: ENSMUSP00000118340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003908] [ENSMUST00000106484] [ENSMUST00000106485] [ENSMUST00000106486] [ENSMUST00000123072] [ENSMUST00000144281]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000003908

SMART Domains

Protein: ENSMUSP00000003908
Gene: ENSMUSG00000003810

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 benign
Transcript: ENSMUST00000106484
AA Change: H166L

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102093
Gene: ENSMUSG00000003810
AA Change: H166L

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

SMART Domains

Protein: ENSMUSP00000102094
Gene: ENSMUSG00000003810

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 benign
Transcript: ENSMUST00000106486
AA Change: H227L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102095
Gene: ENSMUSG00000003810
AA Change: H227L

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

possibly damaging
Transcript: ENSMUST00000123072
AA Change: H83L

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118340
Gene: ENSMUSG00000003810
AA Change: H83L

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: ENSMUST00000134460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151347

Predicted Effect

probably benign
Transcript: ENSMUST00000144281

SMART Domains

Protein: ENSMUSP00000122625
Gene: ENSMUSG00000003810

Domain	Start	End	E-Value	Type
Pfam:DUF1908	57	144	2.3e-38	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

95% (87/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,241,411 (GRCm39)	N1091K	probably damaging	Het
Adam3	C	T	8: 25,197,427 (GRCm39)	V335I	probably benign	Het
AI504432	G	A	3: 106,956,299 (GRCm39)		noncoding transcript	Het
Apcdd1	A	G	18: 63,070,027 (GRCm39)	Y98C	probably damaging	Het
Aqp9	C	T	9: 71,030,146 (GRCm39)	A214T	probably damaging	Het
Atp8b4	T	C	2: 126,220,664 (GRCm39)	D578G	probably benign	Het
Bcdin3d	T	C	15: 99,368,717 (GRCm39)	M161V	probably benign	Het
Bicral	C	T	17: 47,136,284 (GRCm39)	V309I	possibly damaging	Het
Ccdc88b	C	T	19: 6,831,203 (GRCm39)	A580T	probably benign	Het
Cdhr2	T	A	13: 54,874,508 (GRCm39)	V860E	probably damaging	Het
Clhc1	A	T	11: 29,513,854 (GRCm39)	N302Y	possibly damaging	Het
Cnnm2	T	A	19: 46,845,434 (GRCm39)		probably null	Het
Crebbp	T	C	16: 3,937,636 (GRCm39)	N709S	probably benign	Het
Ctnnal1	T	C	4: 56,826,328 (GRCm39)	S512G	probably benign	Het
Dgcr8	C	T	16: 18,090,632 (GRCm39)	V581I	probably benign	Het
Dnaaf10	A	G	11: 17,174,638 (GRCm39)	T169A	probably benign	Het
Dnah7c	G	A	1: 46,678,825 (GRCm39)	V1790I	probably benign	Het
Efl1	A	G	7: 82,341,732 (GRCm39)	K452E	probably benign	Het
Epb42	A	C	2: 120,852,301 (GRCm39)	V564G	probably damaging	Het
Etv4	G	A	11: 101,662,282 (GRCm39)	P335S	probably damaging	Het
Fbxw9	T	A	8: 85,791,201 (GRCm39)		probably null	Het
Fcrl2	A	T	3: 87,170,775 (GRCm39)	L3Q	probably damaging	Het
Frmd8	C	A	19: 5,919,478 (GRCm39)	A190S	probably benign	Het
Gcm2	C	T	13: 41,256,991 (GRCm39)	D253N	probably benign	Het
Gfm1	T	C	3: 67,342,895 (GRCm39)	V143A	probably benign	Het
Gigyf2	T	C	1: 87,374,050 (GRCm39)	M1226T	possibly damaging	Het
Gm10110	C	T	14: 90,134,675 (GRCm39)		noncoding transcript	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm20939	T	G	17: 95,181,767 (GRCm39)	C55W	possibly damaging	Het
Gm5407	T	A	16: 49,117,229 (GRCm39)		noncoding transcript	Het
Golga4	A	G	9: 118,387,351 (GRCm39)	E1491G	probably damaging	Het
Hdac11	T	A	6: 91,146,364 (GRCm39)		probably null	Het
Hs3st3b1	C	T	11: 63,780,098 (GRCm39)	S343N	probably benign	Het
Igkv12-44	G	A	6: 69,792,075 (GRCm39)	P4S	probably benign	Het
Igkv1-35	C	T	6: 69,988,231 (GRCm39)	V22I	probably benign	Het
Kcns2	A	T	15: 34,839,068 (GRCm39)	T144S	probably benign	Het
Khdc1c	T	C	1: 21,439,266 (GRCm39)	V84A	possibly damaging	Het
Kif4-ps	T	A	12: 101,115,544 (GRCm39)		noncoding transcript	Het
Lamc2	T	G	1: 153,017,340 (GRCm39)	Y549S	probably benign	Het
Lect2	T	A	13: 56,696,154 (GRCm39)	I8F	probably benign	Het
Loxl3	T	A	6: 83,012,780 (GRCm39)		probably null	Het
Lrwd1	A	T	5: 136,152,516 (GRCm39)	I545N	possibly damaging	Het
Ltbp3	T	C	19: 5,797,572 (GRCm39)	C437R	probably damaging	Het
Lypd3	T	C	7: 24,339,787 (GRCm39)	S285P	probably benign	Het
Mfsd4b4	A	G	10: 39,768,635 (GRCm39)	F153L	probably benign	Het
Ms4a4b	T	A	19: 11,438,606 (GRCm39)		probably null	Het
Nbr1	T	A	11: 101,450,364 (GRCm39)	L41Q	probably damaging	Het
Nlrp4a	G	A	7: 26,152,814 (GRCm39)	C628Y	probably damaging	Het
Nup160	C	T	2: 90,553,740 (GRCm39)	R1157C	probably damaging	Het
Obscn	T	A	11: 58,891,533 (GRCm39)	I7000F	unknown	Het
Or4k41	T	A	2: 111,280,406 (GRCm39)		probably null	Het
Or4p21	A	T	2: 88,276,652 (GRCm39)	V210D	possibly damaging	Het
Or5ac15	TGAAGAAGAA	TGAAGAA	16: 58,940,335 (GRCm39)		probably benign	Het
Or5b122	T	G	19: 13,562,872 (GRCm39)	V25G	probably damaging	Het
Or8g2	A	T	9: 39,821,546 (GRCm39)	Y149F	probably damaging	Het
Pdilt	T	C	7: 119,094,217 (GRCm39)	K345E	probably damaging	Het
Ppp1r12b	A	T	1: 134,701,162 (GRCm39)		probably null	Het
Ppp2r1b	A	T	9: 50,778,132 (GRCm39)	Q219L	probably damaging	Het
Prim2	A	G	1: 33,493,232 (GRCm39)	S485P	unknown	Het
Prkdc	A	G	16: 15,482,097 (GRCm39)	D380G	probably damaging	Het
Psmg1	A	G	16: 95,783,369 (GRCm39)	L243S	probably damaging	Het
Rapgef5	T	A	12: 117,685,061 (GRCm39)	V270D	probably benign	Het
Rnft1	C	T	11: 86,384,032 (GRCm39)	R311*	probably null	Het
Scaper	T	A	9: 55,724,075 (GRCm39)	I628L	probably damaging	Het
Serpina3j	C	A	12: 104,281,185 (GRCm39)	H119Q	possibly damaging	Het
Slamf6	G	A	1: 171,745,341 (GRCm39)	V23I	probably damaging	Het
Slc12a5	T	A	2: 164,815,688 (GRCm39)	M45K	possibly damaging	Het
Slc25a11	A	C	11: 70,537,016 (GRCm39)	V13G	probably damaging	Het
Slc7a14	T	A	3: 31,292,856 (GRCm39)	Y143F	probably damaging	Het
Spryd3	A	G	15: 102,025,342 (GRCm39)		probably benign	Het
Stard13	C	A	5: 151,113,476 (GRCm39)	L28F	probably damaging	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Taf2	A	G	15: 54,923,335 (GRCm39)	V314A	probably benign	Het
Tas2r106	T	C	6: 131,655,086 (GRCm39)	N255S	possibly damaging	Het
Tbxa2r	T	A	10: 81,168,775 (GRCm39)	W155R	probably damaging	Het
Tcf3	A	G	10: 80,257,450 (GRCm39)		probably benign	Het
Ticam1	TCACACA	TCACA	17: 56,577,629 (GRCm39)		probably null	Het
Vmn2r55	T	C	7: 12,404,959 (GRCm39)	D148G	probably damaging	Het
Vmn2r77	A	G	7: 86,461,235 (GRCm39)	N854D	probably benign	Het
Vstm4	A	T	14: 32,626,526 (GRCm39)	H64L	probably benign	Het
Wnk2	T	C	13: 49,256,276 (GRCm39)	T282A	probably damaging	Het
Zscan4c	A	T	7: 10,743,574 (GRCm39)	D391V	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
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
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'- TGCCCTCTTTCCTAGAAAGGC -3'
(R):5'- GGTGTGTAGAGTAAGGATCCCTTC -3'

Sequencing Primer
(F):5'- GGCTCAATTTTCAAAACCACATTC -3'
(R):5'- TCCCTTCAGGATCAGATTTGTATC -3'

Posted On

2016-11-21