Mutagenetix > Incidental Mutation

Incidental Mutation 'R7316:Mast3'

567974

Institutional Source

Beutler Lab

Gene Symbol

Mast3

Ensembl Gene

ENSMUSG00000031833

Gene Name

microtubule associated serine/threonine kinase 3

Synonyms

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_199308.2. MGI:2683541

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7316 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70778117-70805054 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70779788 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1182 (I1182F)

Ref Sequence

ENSEMBL: ENSMUSP00000148686 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034296] [ENSMUST00000166004] [ENSMUST00000211948]

AlphaFold

Q3U214

Predicted Effect

probably benign
Transcript: ENSMUST00000034296

SMART Domains

Protein: ENSMUSP00000034296
Gene: ENSMUSG00000031834

Domain	Start	End	E-Value	Type
SH3	7	79	4e-7	SMART
RhoGAP	122	286	2.36e-18	SMART
low complexity region	291	311	N/A	INTRINSIC
SH2	322	405	4.51e-26	SMART
Pfam:PI3K_P85_iSH2	422	590	1.7e-64	PFAM
SH2	614	696	9.96e-28	SMART
low complexity region	713	718	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000166004
AA Change: I1198F

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

SMART Domains

Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833
AA Change: I1198F

Domain	Start	End	E-Value	Type
low complexity region	43	59	N/A	INTRINSIC
Pfam:DUF1908	64	337	4.4e-128	PFAM
S_TKc	373	646	2.77e-99	SMART
S_TK_X	647	710	2.39e-1	SMART
low complexity region	820	833	N/A	INTRINSIC
low complexity region	910	942	N/A	INTRINSIC
PDZ	958	1038	3.8e-15	SMART
low complexity region	1053	1074	N/A	INTRINSIC
low complexity region	1089	1121	N/A	INTRINSIC
low complexity region	1124	1150	N/A	INTRINSIC
low complexity region	1180	1204	N/A	INTRINSIC
low complexity region	1231	1248	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000211948
AA Change: I1182F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000212140

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (93/94)

Allele List at MGI

All alleles(2) : Targeted(1) Gene trapped(1)

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,304,644	D246G	probably damaging	Het
2810474O19Rik	T	C	6: 149,326,638	L394P	probably damaging	Het
4933434E20Rik	G	A	3: 90,061,713	M214I	probably benign	Het
Aadat	G	T	8: 60,526,634	G177C	probably damaging	Het
Adam4	T	C	12: 81,419,724	I708V	probably benign	Het
Aip	T	C	19: 4,114,793	N264S	probably benign	Het
Alox8	A	T	11: 69,186,238	D505E	probably benign	Het
Ap3d1	A	T	10: 80,717,859	I518N	probably damaging	Het
Arf3	G	A	15: 98,740,993	Q128*	probably null	Het
Asph	A	G	4: 9,537,746	V344A	probably benign	Het
Birc6	A	T	17: 74,604,494	R1500S	probably damaging	Het
Bptf	G	A	11: 107,073,109	T1753I	probably damaging	Het
Bptf	A	T	11: 107,110,914	C457*	probably null	Het
Brpf3	T	A	17: 28,814,686	I568N	probably damaging	Het
Btnl4	G	C	17: 34,469,057	N582K	probably benign	Het
Camsap3	C	A	8: 3,604,648	P773T	possibly damaging	Het
Capsl	A	T	15: 9,461,802	I95L	probably benign	Het
Cd96	T	A	16: 46,069,653	M336L	probably benign	Het
Cdan1	A	T	2: 120,728,332		probably null	Het
Chd3	A	T	11: 69,345,568	L1939Q	probably damaging	Het
Cngb3	A	T	4: 19,425,599	Y469F	probably benign	Het
Cp	T	C	3: 19,972,752	L448P	probably damaging	Het
Csnk1g2	T	C	10: 80,639,853	V418A	possibly damaging	Het
Dag1	A	T	9: 108,209,502	S147T	probably benign	Het
Dnajc25	T	A	4: 59,017,693	Y117*	probably null	Het
Dpysl2	A	T	14: 66,862,595	M64K	possibly damaging	Het
Dus3l	A	G	17: 56,765,551	H38R	possibly damaging	Het
E330021D16Rik	T	C	6: 136,401,278	K185E	possibly damaging	Het
Eme2	G	A	17: 24,894,866	R62W	probably damaging	Het
Enox1	A	T	14: 77,720,858	M616L	probably benign	Het
Epb41l4b	T	A	4: 57,019,867	T708S	probably benign	Het
Fam71f2	A	G	6: 29,286,102	M187V	probably benign	Het
Fat2	A	T	11: 55,286,067	I1534N	probably damaging	Het
Fer1l5	A	G	1: 36,418,116	T1649A	probably benign	Het
Fmo9	A	G	1: 166,663,646	V421A	probably benign	Het
Fsip2	A	C	2: 82,989,691	Y5256S	possibly damaging	Het
Gapvd1	G	A	2: 34,704,669	L804F	probably damaging	Het
Gen1	A	G	12: 11,241,469	V838A	probably benign	Het
Gnptab	A	T	10: 88,400,710	N59I	probably damaging	Het
Grm5	A	G	7: 87,975,265	T347A	probably benign	Het
Gsdmc3	T	C	15: 63,858,402	N438D	possibly damaging	Het
Hmcn1	A	G	1: 150,732,946	L1495S	probably damaging	Het
Islr2	T	C	9: 58,197,967	E714G	probably damaging	Het
Larp4	A	T	15: 100,001,017	M430L	probably benign	Het
Lpcat2b	A	G	5: 107,433,113	I103V	not run	Het
Lrguk	C	T	6: 34,103,256	S1142F	unknown	Het
Lrit2	G	T	14: 37,068,858	V165F	probably damaging	Het
Mcm6	C	T	1: 128,359,508	D20N	probably damaging	Het
Mief1	A	G	15: 80,249,397	I218M	probably damaging	Het
Mmp2	A	G	8: 92,840,410	T453A	probably benign	Het
Ms4a18	T	A	19: 11,001,996	S219C	probably damaging	Het
Myo5c	A	T	9: 75,269,638	T622S	probably benign	Het
Neb	A	T	2: 52,271,438	M2114K	possibly damaging	Het
Nemp1	T	A	10: 127,689,343	L122*	probably null	Het
Nkx2-1	T	C	12: 56,534,798	N88S	probably benign	Het
Nr2c2	T	A	6: 92,154,463	C202S	probably damaging	Het
Ntsr1	A	C	2: 180,500,752	D112A	probably damaging	Het
Olfr114	A	G	17: 37,590,135	S73P	probably damaging	Het
Olfr430	A	T	1: 174,070,161	I288F	probably benign	Het
Olfr680-ps1	A	T	7: 105,090,900	H246Q	probably damaging	Het
Osbp2	C	A	11: 3,726,431	R73L	probably damaging	Het
Pbp2	T	A	6: 135,309,832	E172D	probably damaging	Het
Pcdhgc3	T	C	18: 37,808,448	I634T	probably benign	Het
Pcnx	T	C	12: 81,995,549	S38P	probably benign	Het
Phyh	A	T	2: 4,936,044	K252*	probably null	Het
Plcb3	C	T	19: 6,966,385		probably null	Het
Ppargc1b	T	C	18: 61,307,838	S670G	probably damaging	Het
Ptprc	T	C	1: 138,064,771	Y1067C	probably damaging	Het
Pwwp2b	A	C	7: 139,256,224	E527A	probably benign	Het
Pzp	T	C	6: 128,513,773	D409G	probably damaging	Het
Rbfox2	A	T	15: 77,132,729	N148K	possibly damaging	Het
Rps24	T	C	14: 24,490,689		probably benign	Het
Slc35e4	T	C	11: 3,912,584	K202E	probably damaging	Het
Spata7	C	T	12: 98,658,612	R258W	probably damaging	Het
Spen	A	T	4: 141,477,054	S1421T	unknown	Het
Svep1	T	A	4: 58,068,763	I3008F	possibly damaging	Het
Tbc1d1	G	T	5: 64,335,277		probably null	Het
Thsd4	T	A	9: 59,987,359	H772L	probably benign	Het
Tle1	T	C	4: 72,118,292	I769V	probably benign	Het
Tm4sf19	T	A	16: 32,407,648	S127T	possibly damaging	Het
Tmprss9	C	A	10: 80,894,979	R780S	probably benign	Het
Tpp2	T	C	1: 43,970,431	V475A	probably benign	Het
Ttc30a1	A	T	2: 75,980,857	L294Q	probably damaging	Het
Ttn	A	T	2: 76,766,913	N19885K	probably damaging	Het
Ttn	A	G	2: 76,862,165	V471A		Het
Tub	A	T	7: 109,030,171	T478S	possibly damaging	Het
Vmn2r88	A	T	14: 51,414,255	Y342F		Het
Wdr18	C	A	10: 79,965,225	D157E	probably benign	Het
Xrra1	A	T	7: 99,876,216		probably null	Het
Zc3h4	G	C	7: 16,435,335	G1198A	unknown	Het
Zfp568	A	T	7: 30,022,256	I209F	possibly damaging	Het
Zfp787	C	A	7: 6,155,524		probably benign	Het
Zfp974	A	T	7: 27,910,438	Y621N	possibly damaging	Het
Zyg11b	A	G	4: 108,250,502	I493T	possibly damaging	Het

Other mutations in Mast3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Mast3	APN	8	70780683	splice site	probably benign
IGL01411:Mast3	APN	8	70779583	missense	possibly damaging	0.50
IGL01475:Mast3	APN	8	70779530	missense	probably damaging	1.00
IGL01886:Mast3	APN	8	70782139	missense	possibly damaging	0.94
IGL02104:Mast3	APN	8	70787906	missense	possibly damaging	0.78
IGL02236:Mast3	APN	8	70789244	missense	probably benign	0.36
IGL02437:Mast3	APN	8	70780558	missense	possibly damaging	0.79
IGL02704:Mast3	APN	8	70786875	missense	probably damaging	1.00
IGL03155:Mast3	APN	8	70789217	missense	probably damaging	1.00
IGL03366:Mast3	APN	8	70781563	nonsense	probably null
gravy	UTSW	8	70786635	missense	probably damaging	1.00
stuffing	UTSW	8	70784797	frame shift	probably null
turkey	UTSW	8	70785482	missense	probably damaging	1.00
BB010:Mast3	UTSW	8	70786635	missense	probably damaging	1.00
BB020:Mast3	UTSW	8	70786635	missense	probably damaging	1.00
R0037:Mast3	UTSW	8	70783699	critical splice donor site	probably null
R0280:Mast3	UTSW	8	70783795	missense	probably damaging	1.00
R0280:Mast3	UTSW	8	70787920	missense	possibly damaging	0.65
R0731:Mast3	UTSW	8	70781321	missense	probably damaging	1.00
R1101:Mast3	UTSW	8	70786663	missense	probably damaging	1.00
R1177:Mast3	UTSW	8	70780324	missense	probably damaging	1.00
R1208:Mast3	UTSW	8	70788272	splice site	probably null
R1208:Mast3	UTSW	8	70788272	splice site	probably null
R1333:Mast3	UTSW	8	70781294	missense	probably damaging	1.00
R1543:Mast3	UTSW	8	70792311	missense	possibly damaging	0.93
R1544:Mast3	UTSW	8	70786172	missense	probably damaging	1.00
R1738:Mast3	UTSW	8	70784556	missense	probably benign	0.38
R1842:Mast3	UTSW	8	70780393	missense	possibly damaging	0.91
R1936:Mast3	UTSW	8	70784800	missense	probably damaging	1.00
R2015:Mast3	UTSW	8	70787363	missense	probably benign	0.00
R2219:Mast3	UTSW	8	70780963	missense	probably damaging	0.99
R2220:Mast3	UTSW	8	70780963	missense	probably damaging	0.99
R3711:Mast3	UTSW	8	70779607	missense	probably benign	0.13
R3919:Mast3	UTSW	8	70779422	missense	probably benign	0.02
R4027:Mast3	UTSW	8	70787908	missense	probably damaging	1.00
R4060:Mast3	UTSW	8	70781194	missense	probably damaging	1.00
R4061:Mast3	UTSW	8	70781194	missense	probably damaging	1.00
R4062:Mast3	UTSW	8	70781194	missense	probably damaging	1.00
R4063:Mast3	UTSW	8	70781194	missense	probably damaging	1.00
R4588:Mast3	UTSW	8	70780607	nonsense	probably null
R4672:Mast3	UTSW	8	70784797	frame shift	probably null
R4770:Mast3	UTSW	8	70786220	missense	probably damaging	1.00
R4822:Mast3	UTSW	8	70780366	missense	probably damaging	1.00
R4830:Mast3	UTSW	8	70788915	missense	possibly damaging	0.87
R5196:Mast3	UTSW	8	70788245	missense	probably damaging	1.00
R5333:Mast3	UTSW	8	70783501	missense	probably benign	0.03
R5428:Mast3	UTSW	8	70784733	missense	possibly damaging	0.95
R5656:Mast3	UTSW	8	70786221	missense	probably damaging	1.00
R5920:Mast3	UTSW	8	70787933	missense	probably benign	0.00
R6177:Mast3	UTSW	8	70790018	missense	probably damaging	1.00
R6186:Mast3	UTSW	8	70785483	missense	probably damaging	1.00
R6407:Mast3	UTSW	8	70782128	missense	probably benign	0.02
R6614:Mast3	UTSW	8	70781966	missense	possibly damaging	0.95
R6804:Mast3	UTSW	8	70786732	missense	probably benign	0.29
R6873:Mast3	UTSW	8	70786592	nonsense	probably null
R6930:Mast3	UTSW	8	70799471	nonsense	probably null
R6948:Mast3	UTSW	8	70785482	missense	probably damaging	1.00
R7084:Mast3	UTSW	8	70779473	missense	probably benign	0.14
R7253:Mast3	UTSW	8	70789682	critical splice donor site	probably null
R7357:Mast3	UTSW	8	70784859	missense	probably damaging	1.00
R7405:Mast3	UTSW	8	70786171	missense	probably damaging	1.00
R7429:Mast3	UTSW	8	70780303	missense	probably damaging	1.00
R7430:Mast3	UTSW	8	70780303	missense	probably damaging	1.00
R7521:Mast3	UTSW	8	70788768	missense	probably benign	0.16
R7576:Mast3	UTSW	8	70781194	missense	probably damaging	1.00
R7933:Mast3	UTSW	8	70786635	missense	probably damaging	1.00
R7998:Mast3	UTSW	8	70783570	missense	probably benign
R8021:Mast3	UTSW	8	70788252	missense	probably benign	0.02
R8204:Mast3	UTSW	8	70788281	missense	probably benign	0.00
R8327:Mast3	UTSW	8	70779418	missense	probably damaging	1.00
R8357:Mast3	UTSW	8	70780441	missense	probably benign	0.39
R8415:Mast3	UTSW	8	70781222	missense	probably damaging	1.00
R8457:Mast3	UTSW	8	70780441	missense	probably benign	0.39
R8530:Mast3	UTSW	8	70788233	missense	possibly damaging	0.92
R8891:Mast3	UTSW	8	70781157	missense	probably damaging	1.00
R8930:Mast3	UTSW	8	70781733	splice site	probably benign
R9002:Mast3	UTSW	8	70781260	missense	probably damaging	1.00
R9085:Mast3	UTSW	8	70796717	missense	unknown
R9087:Mast3	UTSW	8	70789686	missense	possibly damaging	0.93
R9148:Mast3	UTSW	8	70780447	missense	probably damaging	0.98
R9364:Mast3	UTSW	8	70786182	missense	probably damaging	1.00
R9779:Mast3	UTSW	8	70785483	missense	probably damaging	1.00
Z1177:Mast3	UTSW	8	70789038	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TAGATGCAGCCTCCTCATGAC -3'
(R):5'- CACTGACCAATTCCTGTTGC -3'

Sequencing Primer
(F):5'- TCCTCATGACGACCAGCTCAG -3'
(R):5'- TGTTGCCCACAGACACAG -3'

Posted On

2019-06-26