Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01824:Megf6'

154628

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Megf6

Ensembl Gene

ENSMUSG00000057751

Gene Name

multiple EGF-like-domains 6

Synonyms

2600001P17Rik, Egfl3

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01824

Quality Score

Status

Chromosome

Chromosomal Location

154170730-154275713 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154252234 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 322 (D322G)

Ref Sequence

ENSEMBL: ENSMUSP00000030897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030897] [ENSMUST00000152159]

Predicted Effect

probably damaging
Transcript: ENSMUST00000030897
AA Change: D322G

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

SMART Domains

Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: D322G

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
EGF_CA	122	162	1.54e-6	SMART
EGF_CA	163	203	2.08e-12	SMART
EGF	207	245	5.4e-2	SMART
EGF	249	286	2.39e-3	SMART
EGF_CA	287	327	4.96e-10	SMART
EGF	336	373	1.64e-1	SMART
EGF	377	413	1.99e1	SMART
EGF_CA	414	454	7.4e-9	SMART
EGF	521	554	4.26e0	SMART
EGF_Lam	570	609	1.19e-3	SMART
EGF_like	613	652	5.29e-1	SMART
EGF	642	685	2.2e1	SMART
EGF_Lam	656	697	1.04e-3	SMART
EGF	687	730	1.59e1	SMART
EGF_like	701	742	2.27e0	SMART
EGF_Lam	746	784	1.33e-1	SMART
EGF	783	816	2.85e-1	SMART
EGF_Lam	832	871	3.88e-3	SMART
EGF_Lam	875	915	3.25e-5	SMART
EGF	914	946	4.7e-2	SMART
EGF_like	962	1001	1.69e-1	SMART
EGF	1000	1032	7.02e-1	SMART
EGF_Lam	1048	1087	3.1e-2	SMART
EGF	1077	1118	7.53e-1	SMART
EGF_like	1091	1130	5.59e-1	SMART
EGF	1129	1161	5.04e-2	SMART
EGF_Lam	1177	1216	2.94e-3	SMART
EGF	1206	1248	1.87e1	SMART
EGF_Lam	1220	1260	3.1e-2	SMART
EGF	1259	1291	1.73e0	SMART
EGF	1302	1334	6.55e-1	SMART
EGF	1345	1377	4.39e-2	SMART
EGF_Lam	1393	1432	7.64e-2	SMART
EGF_Lam	1436	1475	2.64e-5	SMART
EGF_like	1465	1506	4.2e1	SMART
EGF_Lam	1479	1518	1.19e-3	SMART
EGF	1517	1549	1.84e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152159
AA Change: D214G

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121641
Gene: ENSMUSG00000057751
AA Change: D214G

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
EGF_CA	55	95	2.08e-12	SMART
EGF	99	137	5.4e-2	SMART
EGF	141	178	2.39e-3	SMART
EGF_CA	179	219	4.96e-10	SMART
EGF	228	265	1.64e-1	SMART
EGF	269	305	1.99e1	SMART
EGF_CA	306	346	7.4e-9	SMART
EGF	413	446	4.26e0	SMART
EGF_Lam	462	501	1.19e-3	SMART
EGF_like	505	544	5.29e-1	SMART
EGF	534	577	2.2e1	SMART
EGF_Lam	548	589	1.04e-3	SMART
EGF	579	622	1.59e1	SMART
EGF_like	593	634	2.27e0	SMART
EGF_Lam	638	676	1.33e-1	SMART
EGF	675	708	2.85e-1	SMART
EGF_Lam	724	763	3.88e-3	SMART
EGF_Lam	767	807	3.25e-5	SMART
EGF	806	838	4.7e-2	SMART
EGF_Lam	854	893	2.56e-3	SMART
EGF	892	924	2.02e-1	SMART
EGF	935	967	7.13e-2	SMART
EGF	978	1010	1.73e0	SMART
EGF	1021	1053	6.55e-1	SMART
EGF	1064	1096	4.39e-2	SMART
EGF	1107	1139	4.97e-1	SMART
EGF	1159	1191	1.84e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183595

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17c	G	A	7: 84,151,289	R186C	probably benign	Het
Ankar	A	G	1: 72,651,727	V1196A	probably benign	Het
Asah1	A	T	8: 41,349,543		probably benign	Het
Chrm1	T	C	19: 8,679,130	W400R	probably damaging	Het
Cyp27a1	G	T	1: 74,735,881	E290*	probably null	Het
Dnah7a	T	C	1: 53,504,270	D2247G	probably benign	Het
Gins4	G	A	8: 23,234,768	Q57*	probably null	Het
Gli1	T	C	10: 127,336,527	D219G	probably benign	Het
Greb1	A	T	12: 16,711,716	C554*	probably null	Het
Gtf2ird2	T	C	5: 134,197,282		probably benign	Het
Ifna15	T	C	4: 88,557,783	R155G	probably benign	Het
Lck	T	A	4: 129,558,146	M14L	probably benign	Het
Olfr1272	T	A	2: 90,281,919	I219F	probably damaging	Het
Pcdh18	A	T	3: 49,754,774	D697E	probably damaging	Het
Pnp	C	T	14: 50,951,413	T221I	probably damaging	Het
Ppl	A	G	16: 5,087,889	I1514T	probably damaging	Het
Scnn1g	A	G	7: 121,766,293	M523V	probably benign	Het
Sema4c	A	G	1: 36,553,029	Y246H	possibly damaging	Het
Slco1a5	T	A	6: 142,253,037	I301F	probably benign	Het
Srebf1	A	G	11: 60,204,131	S446P	probably benign	Het
Sys1	T	G	2: 164,463,305	L56R	probably damaging	Het
Trpc7	G	T	13: 56,789,722	Y585*	probably null	Het
Vmn2r110	T	A	17: 20,574,667	Y580F	probably benign	Het
Zmym6	G	T	4: 127,108,706	V485F	probably damaging	Het

Other mutations in Megf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Megf6	APN	4	154253807	missense	probably damaging	1.00
IGL01410:Megf6	APN	4	154252563	critical splice donor site	probably null
IGL01512:Megf6	APN	4	154262583	missense	possibly damaging	0.64
IGL02172:Megf6	APN	4	154270692	missense	probably damaging	1.00
IGL02727:Megf6	APN	4	154253149	splice site	probably null
IGL02966:Megf6	APN	4	154253777	missense	probably damaging	1.00
Didactic	UTSW	4	154254587	missense	probably damaging	1.00
R0118:Megf6	UTSW	4	154254641	missense	probably damaging	0.99
R0220:Megf6	UTSW	4	154258215	missense	probably damaging	1.00
R0347:Megf6	UTSW	4	154254635	missense	possibly damaging	0.90
R0383:Megf6	UTSW	4	154265326	missense	probably benign	0.01
R0417:Megf6	UTSW	4	154267967	missense	probably benign	0.06
R0526:Megf6	UTSW	4	154258941	missense	probably benign
R0528:Megf6	UTSW	4	154259173	missense	probably benign	0.04
R0928:Megf6	UTSW	4	154177047	missense	probably damaging	1.00
R1311:Megf6	UTSW	4	154263782	splice site	probably null
R1458:Megf6	UTSW	4	154177121	missense	probably benign	0.39
R1470:Megf6	UTSW	4	154252419	splice site	probably benign
R1476:Megf6	UTSW	4	154177121	missense	probably benign	0.39
R1479:Megf6	UTSW	4	154177121	missense	probably benign	0.39
R1624:Megf6	UTSW	4	154177121	missense	probably benign	0.39
R1626:Megf6	UTSW	4	154177121	missense	probably benign	0.39
R1638:Megf6	UTSW	4	154262510	splice site	probably benign
R1777:Megf6	UTSW	4	154270690	nonsense	probably null
R1831:Megf6	UTSW	4	154270677	missense	probably benign	0.00
R1944:Megf6	UTSW	4	154256066	missense	possibly damaging	0.75
R1984:Megf6	UTSW	4	154267667	missense	probably damaging	1.00
R2109:Megf6	UTSW	4	154177121	missense	probably benign	0.39
R2448:Megf6	UTSW	4	154266645	splice site	probably null
R2880:Megf6	UTSW	4	154252549	missense	probably damaging	1.00
R4032:Megf6	UTSW	4	154177093	nonsense	probably null
R4058:Megf6	UTSW	4	154242532	splice site	probably benign
R4672:Megf6	UTSW	4	154249452	missense	probably damaging	0.99
R4688:Megf6	UTSW	4	154253814	missense	probably damaging	0.99
R4752:Megf6	UTSW	4	154252438	missense	probably damaging	1.00
R4863:Megf6	UTSW	4	154254281	critical splice donor site	probably null
R4909:Megf6	UTSW	4	154265391	missense	probably damaging	1.00
R4942:Megf6	UTSW	4	154253820	missense	probably damaging	1.00
R4981:Megf6	UTSW	4	154267450	missense	possibly damaging	0.95
R4990:Megf6	UTSW	4	154267226	missense	possibly damaging	0.94
R5001:Megf6	UTSW	4	154268060	missense	probably damaging	1.00
R5189:Megf6	UTSW	4	154252523	missense	probably benign	0.31
R5210:Megf6	UTSW	4	154269816	intron	probably benign
R5220:Megf6	UTSW	4	154253838	critical splice donor site	probably null
R5250:Megf6	UTSW	4	154256010	missense	possibly damaging	0.65
R5697:Megf6	UTSW	4	154258229	missense	probably null	0.15
R5808:Megf6	UTSW	4	154267662	missense	probably benign
R5916:Megf6	UTSW	4	154249425	critical splice acceptor site	probably null
R6054:Megf6	UTSW	4	154263179	missense	probably benign	0.06
R6075:Megf6	UTSW	4	154262599	nonsense	probably null
R6515:Megf6	UTSW	4	154258919	missense	possibly damaging	0.84
R6599:Megf6	UTSW	4	154258087	splice site	probably null
R6811:Megf6	UTSW	4	154252161	missense	probably damaging	1.00
R6925:Megf6	UTSW	4	154254587	missense	probably damaging	1.00
R7023:Megf6	UTSW	4	154254145	missense	possibly damaging	0.95
R7117:Megf6	UTSW	4	154258922	missense	possibly damaging	0.78
R7163:Megf6	UTSW	4	154267441	missense	probably damaging	0.98
R7345:Megf6	UTSW	4	154267315	missense	probably benign
R7580:Megf6	UTSW	4	154270744	nonsense	probably null
R7649:Megf6	UTSW	4	154265085	missense	probably damaging	0.96
R7702:Megf6	UTSW	4	154270470	missense	probably benign	0.00
R8010:Megf6	UTSW	4	154270507	missense	probably benign	0.13
R8175:Megf6	UTSW	4	154268619	nonsense	probably null
R8231:Megf6	UTSW	4	154252518	missense	probably damaging	1.00
R8436:Megf6	UTSW	4	154265192	missense	probably damaging	1.00
R8460:Megf6	UTSW	4	154266177	nonsense	probably null
R8738:Megf6	UTSW	4	154267979	missense	probably benign
Z1177:Megf6	UTSW	4	154237826	missense	probably benign	0.12
Z1177:Megf6	UTSW	4	154250849	missense	probably damaging	1.00
Z1177:Megf6	UTSW	4	154267681	missense	possibly damaging	0.48
Z1177:Megf6	UTSW	4	154267682	missense	probably damaging	0.99
Z1177:Megf6	UTSW	4	154267747	nonsense	probably null
Z1177:Megf6	UTSW	4	154269741	nonsense	probably null

Posted On

2014-02-04