Mutagenetix > Incidental Mutation

Incidental Mutation 'R0528:Megf6'

48982

Institutional Source

Beutler Lab

Gene Symbol

Megf6

Ensembl Gene

ENSMUSG00000057751

Gene Name

multiple EGF-like-domains 6

Synonyms

2600001P17Rik, Egfl3

MMRRC Submission

038720-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0528 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154255187-154360170 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154343630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 718 (T718A)

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: T718A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: T718A

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: ENSMUST00000152159
AA Change: T610A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000121641
Gene: ENSMUSG00000057751
AA Change: T610A

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: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

96% (65/68)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	G	10: 79,838,848 (GRCm39)	W674G	probably damaging	Het
Abcc9	G	A	6: 142,638,606 (GRCm39)	H103Y	probably damaging	Het
Ano7	A	G	1: 93,323,224 (GRCm39)	N495S	probably null	Het
Aoc1l3	T	A	6: 48,964,965 (GRCm39)	D324E	probably benign	Het
Ash1l	A	G	3: 88,889,584 (GRCm39)	N488D	probably benign	Het
Astn2	A	G	4: 65,563,119 (GRCm39)		probably benign	Het
Atraid	T	A	5: 31,209,796 (GRCm39)		probably benign	Het
Baz2b	T	C	2: 59,767,083 (GRCm39)	R866G	probably damaging	Het
Cep164	T	A	9: 45,688,234 (GRCm39)		probably benign	Het
Clec4f	G	A	6: 83,629,776 (GRCm39)	Q261*	probably null	Het
Cpne4	A	T	9: 104,563,640 (GRCm39)	N6Y	probably damaging	Het
Dhx38	G	T	8: 110,289,293 (GRCm39)	Q36K	probably benign	Het
Dna2	C	A	10: 62,793,910 (GRCm39)	Q341K	probably benign	Het
Dynap	A	G	18: 70,375,165 (GRCm39)		probably benign	Het
Eif3l	T	C	15: 78,973,809 (GRCm39)	V408A	probably benign	Het
Foxi3	T	A	6: 70,934,122 (GRCm39)	I203N	probably damaging	Het
Gcc2	T	A	10: 58,134,511 (GRCm39)	L1495Q	probably damaging	Het
Gpr158	A	G	2: 21,830,019 (GRCm39)	D688G	probably damaging	Het
Hcfc2	C	A	10: 82,575,079 (GRCm39)	T246K	probably damaging	Het
Hdc	C	T	2: 126,458,152 (GRCm39)	E57K	probably benign	Het
Iqsec3	G	C	6: 121,389,743 (GRCm39)		probably benign	Het
Islr2	T	A	9: 58,106,645 (GRCm39)	E205V	probably damaging	Het
Klf9	T	C	19: 23,119,498 (GRCm39)	L127P	probably benign	Het
Lamc2	A	T	1: 152,999,840 (GRCm39)	L1173Q	probably damaging	Het
Lipe	G	A	7: 25,097,901 (GRCm39)	T14I	possibly damaging	Het
Lnpep	A	G	17: 17,751,394 (GRCm39)		probably benign	Het
Lrrc15	A	G	16: 30,092,566 (GRCm39)	S258P	probably damaging	Het
Macc1	A	T	12: 119,410,780 (GRCm39)	Y516F	probably benign	Het
Mtcl2	A	G	2: 156,862,612 (GRCm39)	L1439P	probably damaging	Het
Myh1	A	G	11: 67,111,445 (GRCm39)	D1628G	probably damaging	Het
Naca	C	T	10: 127,879,162 (GRCm39)	T1398I	probably benign	Het
Or1f12	A	G	13: 21,721,416 (GRCm39)	F238S	possibly damaging	Het
Or2a54	A	T	6: 43,093,150 (GRCm39)	H158L	possibly damaging	Het
Padi4	A	G	4: 140,496,740 (GRCm39)	V52A	possibly damaging	Het
Paqr5	G	A	9: 61,863,527 (GRCm39)	T251I	probably damaging	Het
Pcm1	A	G	8: 41,768,967 (GRCm39)	D1611G	probably damaging	Het
Prss12	G	A	3: 123,276,445 (GRCm39)	R358K	probably benign	Het
Racgap1	A	T	15: 99,526,587 (GRCm39)	H325Q	probably damaging	Het
Rbm12b1	A	G	4: 12,145,657 (GRCm39)	H543R	probably benign	Het
Rc3h1	A	T	1: 160,795,228 (GRCm39)	N1076I	probably damaging	Het
Rp1	A	G	1: 4,415,088 (GRCm39)	L2008P	possibly damaging	Het
Rsph3a	A	G	17: 8,164,919 (GRCm39)	H93R	possibly damaging	Het
Sbf1	C	T	15: 89,172,915 (GRCm39)	R1840H	probably damaging	Het
Skic8	T	A	9: 54,630,219 (GRCm39)		probably benign	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tbc1d9	T	C	8: 83,937,085 (GRCm39)	S56P	probably damaging	Het
Tiam2	A	T	17: 3,561,346 (GRCm39)	M1304L	probably damaging	Het
Tmprss11b	G	T	5: 86,819,753 (GRCm39)	R9S	probably damaging	Het
Tnfrsf21	T	A	17: 43,348,505 (GRCm39)	I39N	probably benign	Het
Tnrc6b	T	C	15: 80,763,604 (GRCm39)	S369P	probably benign	Het
Tpra1	T	C	6: 88,887,372 (GRCm39)	V217A	probably benign	Het
Uckl1	G	C	2: 181,212,283 (GRCm39)		probably benign	Het
Vmn1r199	A	T	13: 22,566,736 (GRCm39)	Q10L	probably benign	Het
Vmn2r76	A	G	7: 85,879,506 (GRCm39)	S265P	possibly damaging	Het
Vwa5b1	A	T	4: 138,321,662 (GRCm39)	L377Q	probably damaging	Het
Wrap73	A	G	4: 154,229,776 (GRCm39)	D49G	probably damaging	Het
Zfp764	T	A	7: 127,004,051 (GRCm39)	Q360L	possibly damaging	Het
Zfp846	G	A	9: 20,499,224 (GRCm39)		probably benign	Het
Zranb2	T	C	3: 157,240,096 (GRCm39)	I14T	probably benign	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
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
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'- CAAGGCCATTGAGAACCTCACTTCC -3'
(R):5'- TCGACAGAGATGCTGACCCTGAAC -3'

Sequencing Primer
(F):5'- TTGAGAACCTCACTTCCATCATAC -3'
(R):5'- CTCTGTGACAGTCCAGGAAC -3'

Posted On

2013-06-12