Mutagenetix > Incidental Mutation

Incidental Mutation 'R8436:Megf6'

653988

Institutional Source

Beutler Lab

Gene Symbol

Megf6

Ensembl Gene

ENSMUSG00000057751

Gene Name

multiple EGF-like-domains 6

Synonyms

2600001P17Rik, Egfl3

MMRRC Submission

067777-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8436 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

154255187-154360170 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 154349649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 946 (E946K)

Ref Sequence

ENSEMBL: ENSMUSP00000030897 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030897
AA Change: E946K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: E946K

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 damaging
Transcript: ENSMUST00000152159
AA Change: E838K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121641
Gene: ENSMUSG00000057751
AA Change: E838K

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: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,949,936 (GRCm39)	I1278V	possibly damaging	Het
Baz1b	A	G	5: 135,266,821 (GRCm39)	H1210R	probably damaging	Het
Cdt1	C	T	8: 123,296,070 (GRCm39)	S128L	probably benign	Het
Cfap54	A	T	10: 92,800,398 (GRCm39)	N1603K	unknown	Het
Cfap99	A	G	5: 34,469,026 (GRCm39)	N300S	possibly damaging	Het
Chrdl2	G	A	7: 99,676,940 (GRCm39)		probably null	Het
Cpb2	C	A	14: 75,510,015 (GRCm39)	F258L	probably damaging	Het
Csmd3	A	T	15: 47,868,218 (GRCm39)	D767E	probably damaging	Het
Dennd3	C	T	15: 73,434,198 (GRCm39)	T956I	probably damaging	Het
Emcn	A	G	3: 137,129,228 (GRCm39)	T245A	possibly damaging	Het
Gm4353	A	G	7: 115,682,864 (GRCm39)	V239A	probably damaging	Het
Gm4884	G	A	7: 40,692,810 (GRCm39)	A260T	probably damaging	Het
Hectd4	A	G	5: 121,446,421 (GRCm39)	D205G	possibly damaging	Het
Hectd4	A	G	5: 121,481,210 (GRCm39)	S3005G	probably benign	Het
Ifngr1	T	C	10: 19,479,553 (GRCm39)	L148P	probably damaging	Het
Irf2	C	T	8: 47,271,929 (GRCm39)	T172M	probably damaging	Het
Irs1	T	C	1: 82,267,970 (GRCm39)	H82R	possibly damaging	Het
Kcnc4	G	T	3: 107,366,084 (GRCm39)	N41K	probably damaging	Het
Lig3	C	T	11: 82,682,870 (GRCm39)	A490V	possibly damaging	Het
Mpi	A	T	9: 57,452,200 (GRCm39)	Y359N	probably damaging	Het
Nf1	A	G	11: 79,349,709 (GRCm39)	S1365G	probably damaging	Het
P3h3	C	A	6: 124,828,041 (GRCm39)		probably null	Het
Pdk2	A	T	11: 94,930,259 (GRCm39)	V59D	probably damaging	Het
Ppip5k2	T	C	1: 97,683,613 (GRCm39)	K168R	probably benign	Het
Prg4	G	T	1: 150,331,318 (GRCm39)	P452T	unknown	Het
Prl2b1	T	C	13: 27,567,442 (GRCm39)	N234S	possibly damaging	Het
Rnd1	T	A	15: 98,574,455 (GRCm39)	T41S	possibly damaging	Het
Sall4	G	A	2: 168,597,830 (GRCm39)	P337S	probably damaging	Het
Slc1a2	G	A	2: 102,586,298 (GRCm39)	A301T	possibly damaging	Het
Sorcs3	C	T	19: 48,194,913 (GRCm39)	R99W	possibly damaging	Het
Svep1	G	A	4: 58,044,053 (GRCm39)	T3531I	possibly damaging	Het
Sycp2	T	C	2: 178,004,761 (GRCm39)	D894G	probably benign	Het
Syne1	T	C	10: 5,178,659 (GRCm39)	N4605S	probably benign	Het
Syt4	A	C	18: 31,573,472 (GRCm39)	C348G	possibly damaging	Het
Tceanc2	G	A	4: 107,034,778 (GRCm39)	T28M	probably damaging	Het
Tmco1	A	G	1: 167,136,254 (GRCm39)	D5G		Het
Tnfsf12	T	C	11: 69,577,713 (GRCm39)	K235E	probably damaging	Het
Trank1	T	C	9: 111,220,450 (GRCm39)	S2396P	possibly damaging	Het
Vipas39	T	A	12: 87,304,191 (GRCm39)	D125V	probably damaging	Het
Vmn1r86	A	G	7: 12,836,771 (GRCm39)	F35S	probably benign	Het
Vmn2r16	A	G	5: 109,511,649 (GRCm39)	N619D	probably damaging	Het
Vps13a	A	G	19: 16,718,157 (GRCm39)	V521A	probably benign	Het
Wdr20rt	T	A	12: 65,273,035 (GRCm39)	L166Q	probably damaging	Het
Zbtb11	T	A	16: 55,821,022 (GRCm39)	C706*	probably null	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zscan21	A	T	5: 138,116,178 (GRCm39)	Y30F	unknown	Het

Other mutations in Megf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Megf6	APN	4	154,338,264 (GRCm39)	missense	probably damaging	1.00
IGL01410:Megf6	APN	4	154,337,020 (GRCm39)	critical splice donor site	probably null
IGL01512:Megf6	APN	4	154,347,040 (GRCm39)	missense	possibly damaging	0.64
IGL01824:Megf6	APN	4	154,336,691 (GRCm39)	missense	probably damaging	1.00
IGL02172:Megf6	APN	4	154,355,149 (GRCm39)	missense	probably damaging	1.00
IGL02727:Megf6	APN	4	154,337,606 (GRCm39)	splice site	probably null
IGL02966:Megf6	APN	4	154,338,234 (GRCm39)	missense	probably damaging	1.00
Didactic	UTSW	4	154,339,044 (GRCm39)	missense	probably damaging	1.00
R0118:Megf6	UTSW	4	154,339,098 (GRCm39)	missense	probably damaging	0.99
R0220:Megf6	UTSW	4	154,342,672 (GRCm39)	missense	probably damaging	1.00
R0347:Megf6	UTSW	4	154,339,092 (GRCm39)	missense	possibly damaging	0.90
R0383:Megf6	UTSW	4	154,349,783 (GRCm39)	missense	probably benign	0.01
R0417:Megf6	UTSW	4	154,352,424 (GRCm39)	missense	probably benign	0.06
R0526:Megf6	UTSW	4	154,343,398 (GRCm39)	missense	probably benign
R0528:Megf6	UTSW	4	154,343,630 (GRCm39)	missense	probably benign	0.04
R0928:Megf6	UTSW	4	154,261,504 (GRCm39)	missense	probably damaging	1.00
R1311:Megf6	UTSW	4	154,348,239 (GRCm39)	splice site	probably null
R1458:Megf6	UTSW	4	154,261,578 (GRCm39)	missense	probably benign	0.39
R1470:Megf6	UTSW	4	154,336,876 (GRCm39)	splice site	probably benign
R1476:Megf6	UTSW	4	154,261,578 (GRCm39)	missense	probably benign	0.39
R1479:Megf6	UTSW	4	154,261,578 (GRCm39)	missense	probably benign	0.39
R1624:Megf6	UTSW	4	154,261,578 (GRCm39)	missense	probably benign	0.39
R1626:Megf6	UTSW	4	154,261,578 (GRCm39)	missense	probably benign	0.39
R1638:Megf6	UTSW	4	154,346,967 (GRCm39)	splice site	probably benign
R1777:Megf6	UTSW	4	154,355,147 (GRCm39)	nonsense	probably null
R1831:Megf6	UTSW	4	154,355,134 (GRCm39)	missense	probably benign	0.00
R1944:Megf6	UTSW	4	154,340,523 (GRCm39)	missense	possibly damaging	0.75
R1984:Megf6	UTSW	4	154,352,124 (GRCm39)	missense	probably damaging	1.00
R2109:Megf6	UTSW	4	154,261,578 (GRCm39)	missense	probably benign	0.39
R2448:Megf6	UTSW	4	154,351,102 (GRCm39)	splice site	probably null
R2880:Megf6	UTSW	4	154,337,006 (GRCm39)	missense	probably damaging	1.00
R4032:Megf6	UTSW	4	154,261,550 (GRCm39)	nonsense	probably null
R4058:Megf6	UTSW	4	154,326,989 (GRCm39)	splice site	probably benign
R4672:Megf6	UTSW	4	154,333,909 (GRCm39)	missense	probably damaging	0.99
R4688:Megf6	UTSW	4	154,338,271 (GRCm39)	missense	probably damaging	0.99
R4752:Megf6	UTSW	4	154,336,895 (GRCm39)	missense	probably damaging	1.00
R4863:Megf6	UTSW	4	154,338,738 (GRCm39)	critical splice donor site	probably null
R4909:Megf6	UTSW	4	154,349,848 (GRCm39)	missense	probably damaging	1.00
R4942:Megf6	UTSW	4	154,338,277 (GRCm39)	missense	probably damaging	1.00
R4981:Megf6	UTSW	4	154,351,907 (GRCm39)	missense	possibly damaging	0.95
R4990:Megf6	UTSW	4	154,351,683 (GRCm39)	missense	possibly damaging	0.94
R5001:Megf6	UTSW	4	154,352,517 (GRCm39)	missense	probably damaging	1.00
R5189:Megf6	UTSW	4	154,336,980 (GRCm39)	missense	probably benign	0.31
R5210:Megf6	UTSW	4	154,354,273 (GRCm39)	intron	probably benign
R5220:Megf6	UTSW	4	154,338,295 (GRCm39)	critical splice donor site	probably null
R5250:Megf6	UTSW	4	154,340,467 (GRCm39)	missense	possibly damaging	0.65
R5697:Megf6	UTSW	4	154,342,686 (GRCm39)	missense	probably null	0.15
R5808:Megf6	UTSW	4	154,352,119 (GRCm39)	missense	probably benign
R5916:Megf6	UTSW	4	154,333,882 (GRCm39)	critical splice acceptor site	probably null
R6054:Megf6	UTSW	4	154,347,636 (GRCm39)	missense	probably benign	0.06
R6075:Megf6	UTSW	4	154,347,056 (GRCm39)	nonsense	probably null
R6515:Megf6	UTSW	4	154,343,376 (GRCm39)	missense	possibly damaging	0.84
R6599:Megf6	UTSW	4	154,342,544 (GRCm39)	splice site	probably null
R6811:Megf6	UTSW	4	154,336,618 (GRCm39)	missense	probably damaging	1.00
R6925:Megf6	UTSW	4	154,339,044 (GRCm39)	missense	probably damaging	1.00
R7023:Megf6	UTSW	4	154,338,602 (GRCm39)	missense	possibly damaging	0.95
R7117:Megf6	UTSW	4	154,343,379 (GRCm39)	missense	possibly damaging	0.78
R7163:Megf6	UTSW	4	154,351,898 (GRCm39)	missense	probably damaging	0.98
R7345:Megf6	UTSW	4	154,351,772 (GRCm39)	missense	probably benign
R7580:Megf6	UTSW	4	154,355,201 (GRCm39)	nonsense	probably null
R7649:Megf6	UTSW	4	154,349,542 (GRCm39)	missense	probably damaging	0.96
R7702:Megf6	UTSW	4	154,354,927 (GRCm39)	missense	probably benign	0.00
R8010:Megf6	UTSW	4	154,354,964 (GRCm39)	missense	probably benign	0.13
R8175:Megf6	UTSW	4	154,353,076 (GRCm39)	nonsense	probably null
R8231:Megf6	UTSW	4	154,336,975 (GRCm39)	missense	probably damaging	1.00
R8460:Megf6	UTSW	4	154,350,634 (GRCm39)	nonsense	probably null
R8738:Megf6	UTSW	4	154,352,436 (GRCm39)	missense	probably benign
R8854:Megf6	UTSW	4	154,352,469 (GRCm39)	missense	probably damaging	1.00
R8896:Megf6	UTSW	4	154,326,860 (GRCm39)	missense	probably damaging	0.99
R9098:Megf6	UTSW	4	154,354,160 (GRCm39)	missense	probably damaging	0.99
R9147:Megf6	UTSW	4	154,339,130 (GRCm39)	missense	probably benign	0.18
R9148:Megf6	UTSW	4	154,339,130 (GRCm39)	missense	probably benign	0.18
R9161:Megf6	UTSW	4	154,352,172 (GRCm39)	missense	probably benign	0.44
R9355:Megf6	UTSW	4	154,338,282 (GRCm39)	missense	probably damaging	1.00
R9386:Megf6	UTSW	4	154,340,534 (GRCm39)	missense	probably damaging	1.00
R9404:Megf6	UTSW	4	154,348,225 (GRCm39)	missense
R9469:Megf6	UTSW	4	154,335,369 (GRCm39)	missense	probably damaging	1.00
R9472:Megf6	UTSW	4	154,333,910 (GRCm39)	missense	probably damaging	1.00
R9777:Megf6	UTSW	4	154,343,617 (GRCm39)	missense	probably damaging	1.00
Z1177:Megf6	UTSW	4	154,322,283 (GRCm39)	missense	probably benign	0.12
Z1177:Megf6	UTSW	4	154,354,198 (GRCm39)	nonsense	probably null
Z1177:Megf6	UTSW	4	154,352,204 (GRCm39)	nonsense	probably null
Z1177:Megf6	UTSW	4	154,352,139 (GRCm39)	missense	probably damaging	0.99
Z1177:Megf6	UTSW	4	154,352,138 (GRCm39)	missense	possibly damaging	0.48
Z1177:Megf6	UTSW	4	154,335,306 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCAGACTTGGTGTCCTAATC -3'
(R):5'- TACGTACTCTGGGCACAGTG -3'

Sequencing Primer
(F):5'- GTCCTAATCTGATGCAAGACTGGC -3'
(R):5'- ATGCACGAGCCAGTGAC -3'

Posted On

2020-10-20