Mutagenetix > Incidental Mutation

Incidental Mutation 'R7345:Megf6'

570133

Institutional Source

Beutler Lab

Gene Symbol

Megf6

Ensembl Gene

ENSMUSG00000057751

Gene Name

multiple EGF-like-domains 6

Synonyms

2600001P17Rik, Egfl3

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154170730-154275713 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 154267315 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1162 (Q1162K)

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: Q1162K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: Q1162K

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

probably benign
Transcript: ENSMUST00000128700

SMART Domains

Protein: ENSMUSP00000117277
Gene: ENSMUSG00000057751

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks3	A	G	16: 4,955,910	M174T	possibly damaging	Het
Arhgap23	G	A	11: 97,466,478	R934Q	possibly damaging	Het
Atad5	T	C	11: 80,096,006	S640P	probably damaging	Het
B3galnt2	C	T	13: 13,980,480		probably null	Het
B430305J03Rik	T	C	3: 61,364,118	S69G	unknown	Het
C87499	T	C	4: 88,628,179	K309E	possibly damaging	Het
Cd163	A	T	6: 124,318,938	N747I	possibly damaging	Het
Cep126	A	G	9: 8,099,816	S906P	probably damaging	Het
Cyp4f39	G	A	17: 32,486,779	G318R	probably damaging	Het
D630003M21Rik	C	T	2: 158,217,209	G257D	probably damaging	Het
Dcaf10	T	C	4: 45,342,583	L139P	probably damaging	Het
Dcc	A	G	18: 71,378,824	V840A	probably benign	Het
Dnhd1	A	T	7: 105,703,967	I2776L	probably benign	Het
Fam166b	T	C	4: 43,428,022	D145G	possibly damaging	Het
Fbxo24	G	T	5: 137,621,261	F234L	probably damaging	Het
Gm21190	T	C	5: 15,527,904		probably null	Het
Grhl3	C	T	4: 135,546,246	R565Q	probably damaging	Het
Gtf3c1	A	T	7: 125,645,670	Y1731N	probably damaging	Het
Il1a	C	A	2: 129,304,773	R133S	probably benign	Het
Ipo4	C	T	14: 55,635,531	R23Q	probably benign	Het
Klc3	G	A	7: 19,394,889	T481M	probably benign	Het
Map2k6	A	T	11: 110,492,908	I127F		Het
Mapk8	A	T	14: 33,408,111	N63K	probably damaging	Het
Med13l	T	C	5: 118,742,760	W1306R	probably damaging	Het
Myo5b	A	G	18: 74,708,024	E992G	possibly damaging	Het
Ndst4	C	T	3: 125,714,659	T291M	probably benign	Het
Nek10	T	A	14: 14,955,503	F838L	probably benign	Het
Nrm	A	G	17: 35,864,584	H194R	probably damaging	Het
Nup188	T	C	2: 30,340,601	S1384P	probably benign	Het
Olfml2a	C	A	2: 38,960,127	D618E	probably damaging	Het
Olfr466	A	C	13: 65,152,743	N173T	possibly damaging	Het
Olfr506	C	T	7: 108,613,063	T252I	probably benign	Het
Olfr937	A	G	9: 39,060,579	L29P	probably damaging	Het
Olfr938	G	A	9: 39,078,334	S137F	probably damaging	Het
P2ry1	T	C	3: 61,003,674	F78S	possibly damaging	Het
Pcdhb18	T	C	18: 37,491,923	F769L	probably benign	Het
Poc5	A	G	13: 96,396,796	E144G	probably damaging	Het
Pole	T	A	5: 110,303,903	N870K	possibly damaging	Het
Polr2b	T	C	5: 77,349,119	F1159L	possibly damaging	Het
Rubcnl	A	G	14: 75,042,353	Y392C	probably benign	Het
Sec31a	T	C	5: 100,385,270	T539A	probably damaging	Het
Serpinh1	A	C	7: 99,346,356	S340A	probably damaging	Het
Slc1a5	T	A	7: 16,796,160		probably null	Het
Soat2	A	G	15: 102,162,578	D469G	probably benign	Het
Speg	T	C	1: 75,384,835	L70P	probably damaging	Het
Spred2	T	C	11: 19,924,958		probably null	Het
Stac2	A	C	11: 98,042,613	S168A	probably damaging	Het
Stx1a	T	A	5: 135,037,188	D31E	probably benign	Het
Timeless	C	T	10: 128,249,754	T885M	probably damaging	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tsen34	T	C	7: 3,695,615	Y253H	probably damaging	Het
Unc13b	T	C	4: 43,173,966	V1598A	unknown	Het
Zfat	A	T	15: 68,105,043	Y1086N	probably damaging	Het
Zfp551	G	A	7: 12,416,595	H296Y	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
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
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
R9777:Megf6	UTSW	4	154259160	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'- GCCCTGGAGCTATAATTCCC -3'
(R):5'- CCACAAAGCAGGTGTTGGAG -3'

Sequencing Primer
(F):5'- GGAGCTATAATTCCCAACCTTCTG -3'
(R):5'- AGTGGCACTCTCCAGAGACATG -3'

Posted On

2019-09-13