Mutagenetix > Incidental Mutations

Incidental Mutation 'R8010:Megf6'

616846

Institutional Source

Beutler Lab

Gene Symbol

Megf6

Ensembl Gene

ENSMUSG00000057751

Gene Name

multiple EGF-like-domains 6

Synonyms

2600001P17Rik, Egfl3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8010 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

154170730-154275713 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 154270507 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 1457 (F1457S)

Ref Sequence

ENSEMBL: ENSMUSP00000030897 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030897
AA Change: F1457S

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: F1457S

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

SMART Domains

Protein: ENSMUSP00000117277
Gene: ENSMUSG00000057751
AA Change: F324S

Domain	Start	End	E-Value	Type
EGF_Lam	3	42	3.1e-2	SMART
EGF	32	73	7.53e-1	SMART
EGF_like	46	85	8.92e-1	SMART
EGF	84	116	7.13e-2	SMART
EGF	127	159	1.73e0	SMART
EGF	170	202	6.55e-1	SMART
EGF	213	245	4.39e-2	SMART
EGF_Lam	261	300	7.64e-2	SMART
EGF	299	331	1.51e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152159

SMART Domains

Protein: ENSMUSP00000121641
Gene: ENSMUSG00000057751

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,580,340	H130L	probably benign	Het
Abca1	A	G	4: 53,127,600	S140P	probably benign	Het
AI314180	T	A	4: 58,832,681	Q893L	unknown	Het
Aoc1	T	C	6: 48,905,648	Y153H	probably benign	Het
Arhgdib	A	G	6: 136,926,722	I118T	probably damaging	Het
Atp1a3	T	A	7: 24,980,645	E865V	possibly damaging	Het
Atrnl1	T	C	19: 57,682,446	V587A	probably benign	Het
C130026I21Rik	G	A	1: 85,246,950	S288L	possibly damaging	Het
Ccdc107	G	T	4: 43,495,768	E199*	probably null	Het
Cd55	A	T	1: 130,459,616	D148E	probably benign	Het
Cdc42ep1	C	T	15: 78,847,799	T148I	possibly damaging	Het
Cep164	A	T	9: 45,823,671	D19E	unknown	Het
Chsy3	A	G	18: 59,410,154	Y788C	probably damaging	Het
Cttnbp2	G	C	6: 18,426,093	A762G	possibly damaging	Het
Cubn	A	G	2: 13,336,086		probably null	Het
Ddr1	T	A	17: 35,691,492	M175L	possibly damaging	Het
Dicer1	C	A	12: 104,692,132	K1850N	probably damaging	Het
Dnajc6	C	T	4: 101,618,414	R495C	probably benign	Het
Fbxo18	A	T	2: 11,767,632	N79K	probably benign	Het
Frmpd1	T	A	4: 45,284,272	V1031D	possibly damaging	Het
Gm7298	A	G	6: 121,735,583	E118G	probably benign	Het
Hnrnpll	T	C	17: 80,061,956	T13A	unknown	Het
Jcad	A	G	18: 4,674,581	D781G	probably benign	Het
Kitl	A	T	10: 100,051,903	T25S	probably benign	Het
Krt5	T	C	15: 101,712,356	D152G	probably damaging	Het
Krtap5-5	T	C	7: 142,229,911	M1V	probably null	Het
Ktn1	C	T	14: 47,705,773	T862I	possibly damaging	Het
Mapk4	A	T	18: 73,930,576	I525N	probably benign	Het
Mrm3	A	T	11: 76,250,347	S394C	probably damaging	Het
Mtmr4	T	G	11: 87,598,864	V71G	probably damaging	Het
Nek8	T	C	11: 78,176,596	Y4C	probably damaging	Het
Olfr203	T	C	16: 59,303,504	M117T	probably damaging	Het
Olfr309	T	A	7: 86,307,052	E20D	probably benign	Het
Olfr849	A	T	9: 19,441,692	I260L	probably benign	Het
Pla2r1	T	C	2: 60,514,960	T351A	probably benign	Het
Plcb4	C	T	2: 135,907,560	T49M	probably benign	Het
Psg20	T	C	7: 18,681,067	D301G	probably benign	Het
Ptpn13	C	T	5: 103,559,937	Q1455*	probably null	Het
Rbbp8	A	T	18: 11,722,233	N505I	possibly damaging	Het
Rgs18	A	G	1: 144,756,000	C125R	probably benign	Het
Rpap2	G	A	5: 107,603,605	C105Y	probably damaging	Het
Scn10a	C	T	9: 119,661,167	G570R	possibly damaging	Het
Sell	C	T	1: 164,065,512	T99I	possibly damaging	Het
Slc14a1	A	T	18: 78,116,489	M63K	probably benign	Het
Syne2	A	T	12: 75,930,738	D1319V	probably benign	Het
Tdp2	C	T	13: 24,836,027	T99I	probably damaging	Het
Tet3	A	T	6: 83,403,246	S647T	unknown	Het
Tpd52l1	T	G	10: 31,358,013	D48A	possibly damaging	Het
Ttll10	T	C	4: 156,047,161	D169G	probably damaging	Het
Wars2	C	A	3: 99,216,830	L336I	probably benign	Het
Wdfy4	C	A	14: 32,971,627	W2906L		Het
Xdh	A	T	17: 73,909,317	Y711*	probably null	Het
Xirp1	T	A	9: 120,017,824	R664S	probably benign	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
IGL01824:Megf6	APN	4	154252234	missense	probably damaging	1.00
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
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
R8854:Megf6	UTSW	4	154268012	missense	probably damaging	1.00
R8896:Megf6	UTSW	4	154242403	missense	probably damaging	0.99
R9098:Megf6	UTSW	4	154269703	missense	probably damaging	0.99
R9147:Megf6	UTSW	4	154254673	missense	probably benign	0.18
R9148:Megf6	UTSW	4	154254673	missense	probably benign	0.18
R9161:Megf6	UTSW	4	154267715	missense	probably benign	0.44
R9355:Megf6	UTSW	4	154253825	missense	probably damaging	1.00
R9386:Megf6	UTSW	4	154256077	missense	probably damaging	1.00
R9404:Megf6	UTSW	4	154263768	missense
R9469:Megf6	UTSW	4	154250912	missense	probably damaging	1.00
R9472:Megf6	UTSW	4	154249453	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GGATTTGGTCCTTTGCCCAC -3'
(R):5'- TCACATGTGGTTCCTGCAC -3'

Sequencing Primer
(F):5'- CCACTCTGGGAAAACGAGG -3'
(R):5'- CTGATGGGATCACAGGGCAC -3'

Posted On

2020-01-23