Mutagenetix > Incidental Mutation

Incidental Mutation 'R7580:Megf6'

586681

Institutional Source

Beutler Lab

Gene Symbol

Megf6

Ensembl Gene

ENSMUSG00000057751

Gene Name

multiple EGF-like-domains 6

Synonyms

2600001P17Rik, Egfl3

MMRRC Submission

045664-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7580 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154255187-154360170 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 154355201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 1505 (C1505*)

Ref Sequence

ENSEMBL: ENSMUSP00000030897 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000030897
AA Change: C1505*

SMART Domains

Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: C1505*

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 null
Transcript: ENSMUST00000152159
AA Change: C1147*

SMART Domains

Protein: ENSMUSP00000121641
Gene: ENSMUSG00000057751
AA Change: C1147*

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

0.9705

Coding Region Coverage

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

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 60,993,040 (GRCm39)	Y213F	probably damaging	Het
Adamdec1	A	G	14: 68,802,980 (GRCm39)	S462P	probably benign	Het
Adamtsl1	T	A	4: 85,972,301 (GRCm39)	C3S	possibly damaging	Het
Bag1	C	T	4: 40,947,836 (GRCm39)	E123K	probably benign	Het
Brip1	A	G	11: 86,048,427 (GRCm39)	L305P	probably damaging	Het
Cage1	T	A	13: 38,206,700 (GRCm39)	I382F	possibly damaging	Het
Cfap52	T	A	11: 67,837,146 (GRCm39)	K205I	probably damaging	Het
Cmtr2	T	A	8: 110,948,309 (GRCm39)	N206K	probably damaging	Het
Defb34	G	A	8: 19,176,426 (GRCm39)	C39Y	possibly damaging	Het
Dennd3	T	C	15: 73,428,296 (GRCm39)	S881P	possibly damaging	Het
Dglucy	C	T	12: 100,816,423 (GRCm39)	A325V	probably benign	Het
Dnah8	A	G	17: 30,994,077 (GRCm39)	E3398G	probably damaging	Het
Dsc2	A	T	18: 20,183,130 (GRCm39)	I96K	probably damaging	Het
Endov	C	T	11: 119,390,692 (GRCm39)		probably benign	Het
Fer1l6	A	T	15: 58,430,245 (GRCm39)	Q224L	probably benign	Het
Fmo2	T	C	1: 162,704,613 (GRCm39)	N431S	possibly damaging	Het
Gata3	A	C	2: 9,867,943 (GRCm39)	V337G	probably damaging	Het
Gtse1	G	A	15: 85,746,432 (GRCm39)	V83M	probably damaging	Het
Hgd	C	A	16: 37,439,241 (GRCm39)	P224H	possibly damaging	Het
Kcnh6	T	C	11: 105,908,374 (GRCm39)	V330A	probably damaging	Het
Kiz	C	G	2: 146,798,169 (GRCm39)	I631M	probably damaging	Het
Klhl18	T	C	9: 110,265,118 (GRCm39)	D366G	probably benign	Het
Lrmda	C	T	14: 22,069,925 (GRCm39)		probably benign	Het
Mc1r	G	T	8: 124,134,906 (GRCm39)	A220S	probably damaging	Het
Mmp20	C	T	9: 7,654,144 (GRCm39)	R355*	probably null	Het
Mmp28	T	A	11: 83,335,658 (GRCm39)	Q280L	probably damaging	Het
Mppe1	C	T	18: 67,370,488 (GRCm39)	A70T	probably damaging	Het
Mtif3	T	G	5: 146,895,757 (GRCm39)	D110A	possibly damaging	Het
Mtss2	G	A	8: 111,464,268 (GRCm39)	R361H	possibly damaging	Het
Mvp	T	C	7: 126,591,483 (GRCm39)	D542G	probably damaging	Het
Nlrp5	T	C	7: 23,133,174 (GRCm39)	C940R	probably damaging	Het
Nmur2	C	T	11: 55,917,808 (GRCm39)	V394I	probably benign	Het
Nwd2	A	G	5: 63,965,624 (GRCm39)	H1736R	probably benign	Het
Or2n1c	T	C	17: 38,519,934 (GRCm39)	I266T	probably benign	Het
Pira13	A	T	7: 3,827,611 (GRCm39)	F182Y	unknown	Het
Purg	A	G	8: 33,906,661 (GRCm39)	Y317C	possibly damaging	Het
Ralgapa1	T	A	12: 55,765,013 (GRCm39)	M880L	probably benign	Het
Rap1gap	T	C	4: 137,447,293 (GRCm39)	F413L	possibly damaging	Het
Sart3	A	T	5: 113,892,440 (GRCm39)		probably null	Het
Scaf4	G	A	16: 90,026,740 (GRCm39)	Q1026*	probably null	Het
Slc26a1	A	G	5: 108,819,735 (GRCm39)	L504P	probably damaging	Het
Slc35d1	C	A	4: 103,065,330 (GRCm39)	V184L		Het
Slc5a11	C	T	7: 122,864,421 (GRCm39)	A339V	probably damaging	Het
Stab2	A	T	10: 86,705,028 (GRCm39)	M1780K	probably benign	Het
Tas1r2	G	A	4: 139,387,056 (GRCm39)	D172N	probably benign	Het
Tasor	A	G	14: 27,188,243 (GRCm39)	I896M	probably benign	Het
Tasor2	G	A	13: 3,624,752 (GRCm39)	P1733S	probably damaging	Het
Thoc1	A	T	18: 9,986,343 (GRCm39)	K358N	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Ttll8	A	C	15: 88,818,132 (GRCm39)	L181R	probably damaging	Het
Ubl4b	G	A	3: 107,461,784 (GRCm39)	Q159*	probably null	Het
Xrn1	A	G	9: 95,893,732 (GRCm39)	H967R	not run	Het
Zeb2	T	C	2: 44,884,544 (GRCm39)	D1049G	probably damaging	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
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
R8436:Megf6	UTSW	4	154,349,649 (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'- GTTTGCGAGTGTCAACAGGG -3'
(R):5'- GCTCCGATGGATGTCTATGC -3'

Sequencing Primer
(F):5'- TTCCATGGCCAGTTCTGCGAG -3'
(R):5'- GGTATATCATCTTCTGGCCACTG -3'

Posted On

2019-10-24