Mutagenetix > Incidental Mutation

Incidental Mutation 'R0928:Megf6'

80630

Institutional Source

Beutler Lab

Gene Symbol

Megf6

Ensembl Gene

ENSMUSG00000057751

Gene Name

multiple EGF-like-domains 6

Synonyms

2600001P17Rik, Egfl3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0928 (G1)

Quality Score

207

Status

Not validated

Chromosome

Chromosomal Location

154255187-154360170 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154261504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 43 (V43E)

Ref Sequence

ENSEMBL: ENSMUSP00000030897 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030897
AA Change: V43E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: V43E

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

Coding Region Coverage

1x: 99.2%
3x: 98.1%
10x: 93.0%
20x: 75.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,388,333 (GRCm39)	D179V	probably benign	Het
Abcc1	T	C	16: 14,207,849 (GRCm39)		probably null	Het
Adad1	G	A	3: 37,130,889 (GRCm39)		probably null	Het
Apobec4	T	C	1: 152,632,028 (GRCm39)	Y19H	probably damaging	Het
Bco2	T	A	9: 50,457,231 (GRCm39)	T104S	probably damaging	Het
Bnc1	A	G	7: 81,623,250 (GRCm39)	V659A	probably benign	Het
Ccdc168	C	A	1: 44,096,388 (GRCm39)	S1570I	possibly damaging	Het
Ccs	T	C	19: 4,875,988 (GRCm39)	E184G	probably damaging	Het
Cfap70	T	G	14: 20,493,987 (GRCm39)	K97N	probably damaging	Het
Cracdl	T	C	1: 37,663,663 (GRCm39)	D745G	possibly damaging	Het
Daam2	T	C	17: 49,795,255 (GRCm39)	I313V	probably benign	Het
Dach1	T	C	14: 98,153,268 (GRCm39)	S467G	probably damaging	Het
Dnah11	A	G	12: 118,009,297 (GRCm39)	S2122P	probably damaging	Het
Dnah3	T	A	7: 119,629,274 (GRCm39)	D1427V	probably damaging	Het
Dnai1	T	C	4: 41,602,566 (GRCm39)	F97L	possibly damaging	Het
Dsc1	A	T	18: 20,243,306 (GRCm39)		probably null	Het
En2	A	T	5: 28,375,329 (GRCm39)	K291*	probably null	Het
Eps15	T	C	4: 109,170,160 (GRCm39)	V154A	possibly damaging	Het
Etnk1	A	G	6: 143,130,429 (GRCm39)	I183V	probably benign	Het
Fcrlb	A	T	1: 170,735,509 (GRCm39)	V255D	possibly damaging	Het
Fry	A	T	5: 150,360,549 (GRCm39)	E52V	probably damaging	Het
Garre1	A	T	7: 33,947,671 (GRCm39)		probably null	Het
Gm57858	A	C	3: 36,079,515 (GRCm39)	N258K	possibly damaging	Het
Gtf2h4	T	C	17: 35,981,777 (GRCm39)	Y152C	probably damaging	Het
Hao1	C	A	2: 134,347,536 (GRCm39)	L256F	possibly damaging	Het
Helz	T	A	11: 107,517,519 (GRCm39)	I685K	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Izumo2	A	T	7: 44,364,847 (GRCm39)	I171F	possibly damaging	Het
Krt87	C	A	15: 101,389,161 (GRCm39)	C57F	probably benign	Het
Mapkbp1	A	G	2: 119,845,849 (GRCm39)	H400R	probably benign	Het
Mmut	T	C	17: 41,248,174 (GRCm39)	I67T	probably benign	Het
Ninl	A	T	2: 150,805,395 (GRCm39)	V396E	probably damaging	Het
Nvl	A	T	1: 180,921,467 (GRCm39)	V844E	probably benign	Het
Or2b6	C	T	13: 21,823,126 (GRCm39)	C189Y	probably damaging	Het
P2rx3	A	T	2: 84,865,642 (GRCm39)	M1K	probably null	Het
Pabpn1l	T	C	8: 123,349,358 (GRCm39)	T20A	probably benign	Het
Ppp3r2	C	A	4: 49,681,439 (GRCm39)		probably null	Het
Prmt6	C	T	3: 110,157,998 (GRCm39)	G97D	probably damaging	Het
Prmt9	T	C	8: 78,307,805 (GRCm39)	V823A	probably damaging	Het
Skic3	T	G	13: 76,261,711 (GRCm39)	L142W	probably damaging	Het
Skint11	C	A	4: 114,101,798 (GRCm39)	D79E	possibly damaging	Het
Slc17a8	T	A	10: 89,434,545 (GRCm39)	H194L	probably damaging	Het
Slco6c1	T	A	1: 97,032,573 (GRCm39)	I293F	possibly damaging	Het
Tcl1b4	A	T	12: 105,168,865 (GRCm39)	H43L	probably benign	Het
Tm9sf1	T	C	14: 55,873,914 (GRCm39)	D528G	probably damaging	Het
Tpbpb	C	T	13: 61,049,989 (GRCm39)	V47I	probably benign	Het
Ttn	G	T	2: 76,737,876 (GRCm39)		probably benign	Het
Usp28	T	G	9: 48,942,191 (GRCm39)	S341A	possibly damaging	Het
Vwa5a	T	C	9: 38,639,303 (GRCm39)	Y345H	probably damaging	Het
Wdr11	C	A	7: 129,208,377 (GRCm39)	D377E	probably damaging	Het
Zer1	A	G	2: 29,991,775 (GRCm39)		probably null	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
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'- ACAAGACCTGTAAGTCCCCTCTGC -3'
(R):5'- AGTTCAAGATCTCCGCCACGTACC -3'

Sequencing Primer
(F):5'- CTTGAAGCTTATTAGGGACAGCC -3'
(R):5'- ACGTACCTGCGCTCTTGG -3'

Posted On

2013-11-07