Mutagenetix > Incidental Mutation

Incidental Mutation 'R7350:Mta3'

570542

Institutional Source

Beutler Lab

Gene Symbol

Mta3

Ensembl Gene

ENSMUSG00000055817

Gene Name

metastasis associated 3

Synonyms

1110002J22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.342) question?

Stock #

R7350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83706163-83821516 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83708441 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 24 (I24N)

Ref Sequence

ENSEMBL: ENSMUSP00000068931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067826] [ENSMUST00000112349] [ENSMUST00000112350] [ENSMUST00000112352] [ENSMUST00000177069]

AlphaFold

Q924K8

PDB Structure

Solution structure of the myb-like DNA-binding domain of mouse MTA3 protein [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000067826
AA Change: I24N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068931
Gene: ENSMUSG00000055817
AA Change: I24N

Domain	Start	End	E-Value	Type
BAH	4	147	2.62e-30	SMART
ELM2	150	203	3.49e-16	SMART
SANT	266	315	7.94e-8	SMART
ZnF_GATA	371	425	8.33e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112349
AA Change: I24N

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

SMART Domains

Protein: ENSMUSP00000107968
Gene: ENSMUSG00000055817
AA Change: I24N

Domain	Start	End	E-Value	Type
BAH	4	147	2.62e-30	SMART
ELM2	150	204	2.5e-17	SMART
SANT	267	316	7.94e-8	SMART
ZnF_GATA	373	427	8.33e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112350
AA Change: I24N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107969
Gene: ENSMUSG00000055817
AA Change: I24N

Domain	Start	End	E-Value	Type
BAH	4	147	2.62e-30	SMART
ELM2	150	204	2.5e-17	SMART
SANT	267	316	7.94e-8	SMART
ZnF_GATA	372	426	8.33e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112352
AA Change: I24N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107971
Gene: ENSMUSG00000055817
AA Change: I24N

Domain	Start	End	E-Value	Type
BAH	4	147	2.62e-30	SMART
ELM2	150	204	2.5e-17	SMART
SANT	267	316	7.94e-8	SMART
ZnF_GATA	372	426	8.33e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177069

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	A	T	17: 25,946,711	V534D	probably damaging	Het
Abraxas2	T	C	7: 132,874,849	F106S	probably damaging	Het
Acsf3	A	G	8: 122,785,946	T369A	probably benign	Het
Adgrf5	G	A	17: 43,428,444		probably null	Het
Aff1	T	A	5: 103,847,092	I1052K	probably benign	Het
Akap8	T	C	17: 32,316,575	D155G	possibly damaging	Het
Alg10b	A	T	15: 90,227,450	M166L	probably benign	Het
Allc	T	A	12: 28,563,409	Q178L	possibly damaging	Het
Angptl4	C	A	17: 33,777,110	L297F	probably damaging	Het
Arfgap1	A	G	2: 180,971,076	K8E	possibly damaging	Het
Bckdhb	T	A	9: 84,010,326	V270E	possibly damaging	Het
Cbx3	T	C	6: 51,475,375		probably null	Het
Cd44	G	T	2: 102,834,262	N531K	probably benign	Het
Cdh23	A	T	10: 60,410,910	D916E	probably damaging	Het
Cr2	A	G	1: 195,155,286	V792A	probably benign	Het
Cstf3	T	C	2: 104,608,956	L38P	probably damaging	Het
Cyp2a5	A	G	7: 26,836,783	E151G	probably benign	Het
Dbr1	T	C	9: 99,582,549	F127S		Het
Ddit4	A	T	10: 59,951,495	D6E	probably damaging	Het
Disc1	G	C	8: 125,165,102	R631S	probably damaging	Het
Dnah5	T	A	15: 28,235,819		probably null	Het
Dnah9	T	C	11: 66,080,578	K1595E	probably damaging	Het
Dnmbp	T	C	19: 43,901,505	R608G	probably damaging	Het
Efcab5	G	C	11: 77,137,561	P315A	probably benign	Het
Eif4a2	A	G	16: 23,113,262	Y392C	possibly damaging	Het
F5	G	T	1: 164,192,708	K917N	probably benign	Het
Fig4	T	C	10: 41,251,756	M571V	probably benign	Het
Flot2	T	A	11: 78,057,976	I259N	probably damaging	Het
Gm8122	C	A	14: 43,230,601		probably null	Het
Gpr152	T	C	19: 4,142,964	V168A	possibly damaging	Het
H1f0	G	A	15: 79,028,903	G61D	probably damaging	Het
Ihh	T	A	1: 74,948,333	K183M	probably damaging	Het
Itga2	A	G	13: 114,837,202	L1116P	probably damaging	Het
Kcnj10	A	G	1: 172,369,260	T114A	possibly damaging	Het
Kcnk3	T	G	5: 30,621,966	L120R	probably damaging	Het
Krt14	C	A	11: 100,205,100	E211*	probably null	Het
Lars2	T	C	9: 123,427,480	L350P	probably damaging	Het
Lrba	T	C	3: 86,351,902	I1408T	probably damaging	Het
Lrrc27	A	G	7: 139,226,106	E229G	probably benign	Het
Lrrc8e	G	T	8: 4,235,626	R617L	probably benign	Het
M1ap	A	G	6: 82,981,949	D187G	probably benign	Het
March1	A	T	8: 66,468,399	K243*	probably null	Het
Med16	C	T	10: 79,903,197	V252M	probably damaging	Het
Micu3	T	C	8: 40,348,958	S189P	probably benign	Het
Mier2	C	A	10: 79,540,298	M264I	unknown	Het
Mindy4	A	T	6: 55,301,025	N618I	probably damaging	Het
Mmrn1	C	T	6: 60,976,336	Q534*	probably null	Het
Mroh9	C	T	1: 163,076,289		probably null	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Mtmr4	A	T	11: 87,600,650	H147L	probably damaging	Het
Nfam1	T	C	15: 83,010,439	K155R	probably benign	Het
Nlrp6	A	T	7: 140,921,278		probably benign	Het
Olfr1006	A	G	2: 85,674,845	F102S		Het
Olfr1153	T	C	2: 87,896,409		probably benign	Het
Olfr1164	A	T	2: 88,093,198	F246Y	probably benign	Het
Olfr213	A	G	6: 116,540,534	E27G	probably benign	Het
Olfr357	T	A	2: 36,996,861	I17N	possibly damaging	Het
P4ha1	A	G	10: 59,350,418	R240G	probably damaging	Het
Pla2r1	G	T	2: 60,458,379	D636E	probably benign	Het
Polr2a	A	G	11: 69,741,060	L1060P	possibly damaging	Het
Ptgdr2	C	A	19: 10,940,955	Q279K	probably benign	Het
Rab11fip2	T	A	19: 59,937,421	R121S	probably benign	Het
Rasa2	T	C	9: 96,544,355	S813G	probably benign	Het
Rassf5	T	C	1: 131,178,536	K411E	possibly damaging	Het
Reep4	T	C	14: 70,546,547	Y35H	probably damaging	Het
Ror1	A	T	4: 100,425,943	M402L	probably benign	Het
Slc32a1	A	G	2: 158,614,406	E327G	probably damaging	Het
Spen	C	T	4: 141,479,385	E644K	unknown	Het
Tarsl2	C	G	7: 65,658,924	Q281E	probably damaging	Het
Tcl1	A	G	12: 105,218,675	I92T	probably damaging	Het
Tifab	A	G	13: 56,176,307	S108P	probably damaging	Het
Traf1	T	C	2: 34,948,233	N198D	probably benign	Het
Trim35	T	C	14: 66,309,205	Y474H	probably damaging	Het
Trim54	T	A	5: 31,137,161	D344E	probably benign	Het
Ttc28	A	T	5: 111,226,037	H1113L	probably damaging	Het
Vcam1	T	A	3: 116,114,562	D617V	probably damaging	Het
Vmn2r81	A	T	10: 79,268,385	T281S	probably benign	Het
Whrn	C	T	4: 63,431,959	R507K	possibly damaging	Het
Zdhhc14	A	G	17: 5,726,876	S303G	probably benign	Het
Zfp292	A	T	4: 34,806,839	N2073K	probably benign	Het
Zgpat	T	A	2: 181,380,435	V163D		Het

Other mutations in Mta3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Mta3	APN	17	83708432	missense	probably damaging	1.00
IGL00467:Mta3	APN	17	83755684	splice site	probably benign
IGL00475:Mta3	APN	17	83708432	missense	probably damaging	1.00
IGL00539:Mta3	APN	17	83762983	missense	probably benign	0.25
IGL01722:Mta3	APN	17	83755643	missense	possibly damaging	0.95
IGL03355:Mta3	APN	17	83800045	splice site	probably benign
container	UTSW	17	83708446	missense	probably damaging	1.00
R0440:Mta3	UTSW	17	83766587	missense	probably damaging	1.00
R0630:Mta3	UTSW	17	83714627	missense	probably damaging	0.98
R1848:Mta3	UTSW	17	83755551	splice site	probably benign
R1870:Mta3	UTSW	17	83781968	missense	probably damaging	0.98
R2358:Mta3	UTSW	17	83762988	missense	probably damaging	0.96
R2373:Mta3	UTSW	17	83784301	nonsense	probably null
R2447:Mta3	UTSW	17	83804544	missense	probably benign	0.03
R3711:Mta3	UTSW	17	83762988	missense	probably damaging	0.96
R3712:Mta3	UTSW	17	83762988	missense	probably damaging	0.96
R4107:Mta3	UTSW	17	83762914	missense	probably benign	0.00
R4771:Mta3	UTSW	17	83755674	missense	probably damaging	0.98
R5259:Mta3	UTSW	17	83804574	missense	probably damaging	1.00
R5980:Mta3	UTSW	17	83708405	missense	probably damaging	1.00
R6175:Mta3	UTSW	17	83791793	missense	probably benign
R6555:Mta3	UTSW	17	83708446	missense	probably damaging	1.00
R6909:Mta3	UTSW	17	83766551	missense	possibly damaging	0.92
R7170:Mta3	UTSW	17	83714662	missense	probably damaging	1.00
R7597:Mta3	UTSW	17	83775582	missense	probably benign	0.05
R7638:Mta3	UTSW	17	83800143	missense	probably benign
R7747:Mta3	UTSW	17	83791736	nonsense	probably null
R7894:Mta3	UTSW	17	83762934	missense	probably benign	0.01
R8170:Mta3	UTSW	17	83791661	missense	probably damaging	1.00
R8799:Mta3	UTSW	17	83788940	missense	possibly damaging	0.93
R8944:Mta3	UTSW	17	83775717	missense	probably damaging	1.00
R9210:Mta3	UTSW	17	83708417	missense	probably damaging	0.99
R9212:Mta3	UTSW	17	83708417	missense	probably damaging	0.99
Z1088:Mta3	UTSW	17	83762914	missense	probably benign	0.00
Z1177:Mta3	UTSW	17	83781968	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AACGCATAGGGAATTGTAGCC -3'
(R):5'- GGCCTGATCTTCAAGGTTCAAAG -3'

Sequencing Primer
(F):5'- TCTGGTGAACAAGGCAAGCTCTC -3'
(R):5'- CCTGATCTTCAAGGTTCAAAGCAATC -3'

Posted On

2019-09-13