Mutagenetix > Incidental Mutation

Incidental Mutation 'R8460:Megf6'

655211

Institutional Source

Beutler Lab

Gene Symbol

Megf6

Ensembl Gene

ENSMUSG00000057751

Gene Name

multiple EGF-like-domains 6

Synonyms

2600001P17Rik, Egfl3

MMRRC Submission

067905-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8460 (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 154350634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 1048 (C1048*)

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: C1048*

SMART Domains

Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: C1048*

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 null
Transcript: ENSMUST00000128700
AA Change: C2*

SMART Domains

Protein: ENSMUSP00000117277
Gene: ENSMUSG00000057751
AA Change: C2*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
6030458C11Rik	T	C	15: 12,818,545 (GRCm39)		probably benign	Het
Abcb11	T	C	2: 69,154,381 (GRCm39)	M62V	possibly damaging	Het
Adgrf5	C	A	17: 43,750,699 (GRCm39)		probably benign	Het
Arhgap23	T	A	11: 97,343,197 (GRCm39)	V493D	probably damaging	Het
Atg9b	T	C	5: 24,591,966 (GRCm39)	K678E	probably damaging	Het
Catsperg2	T	C	7: 29,404,744 (GRCm39)	D773G	possibly damaging	Het
Cd180	T	C	13: 102,839,354 (GRCm39)	L79P	probably damaging	Het
Celsr2	C	T	3: 108,304,093 (GRCm39)	S2350N	possibly damaging	Het
Cep85l	C	A	10: 53,225,313 (GRCm39)	R92L	probably benign	Het
Cyp21a1	T	C	17: 35,021,844 (GRCm39)	D241G	probably benign	Het
Dock2	C	A	11: 34,180,825 (GRCm39)		probably null	Het
Fam163a	A	G	1: 155,955,712 (GRCm39)	Y27H	probably damaging	Het
Gmnc	G	A	16: 26,779,204 (GRCm39)	L274F	probably benign	Het
Gpc2	A	T	5: 138,274,891 (GRCm39)	C283S	probably damaging	Het
Grm5	A	G	7: 87,252,249 (GRCm39)	I166M	probably damaging	Het
Ighv3-1	A	T	12: 113,928,056 (GRCm39)	L101*	probably null	Het
Impact	C	T	18: 13,109,564 (GRCm39)	S86L	probably benign	Het
Kif1b	C	T	4: 149,272,077 (GRCm39)	V1575I	possibly damaging	Het
Klhl6	A	G	16: 19,775,781 (GRCm39)	V259A	probably damaging	Het
Krt81	G	T	15: 101,361,493 (GRCm39)	A29E	probably damaging	Het
Ldah	A	G	12: 8,318,548 (GRCm39)	N219S	probably benign	Het
Map3k12	C	T	15: 102,410,032 (GRCm39)	R581Q	probably damaging	Het
Marveld3	T	C	8: 110,681,040 (GRCm39)	D285G	probably benign	Het
Mcpt2	A	G	14: 56,281,201 (GRCm39)	D135G	possibly damaging	Het
Megf9	A	T	4: 70,374,208 (GRCm39)	V276D	probably damaging	Het
Nfya	T	C	17: 48,698,974 (GRCm39)	H273R	possibly damaging	Het
Olah	T	A	2: 3,362,762 (GRCm39)	Q21H	probably damaging	Het
Or10s1	T	C	9: 39,986,353 (GRCm39)	L254P	probably damaging	Het
Or51t4	T	A	7: 102,598,531 (GRCm39)	C286*	probably null	Het
Or7g21	T	C	9: 19,032,988 (GRCm39)	S243P	probably damaging	Het
Or8b47	A	T	9: 38,427,926 (GRCm39)		probably benign	Het
Or8k23	T	G	2: 86,186,198 (GRCm39)	H176P	probably damaging	Het
Or9s23	T	A	1: 92,501,268 (GRCm39)	M125K	probably damaging	Het
Pcdhgb6	T	A	18: 37,877,278 (GRCm39)	L662Q	possibly damaging	Het
Pou4f3	T	C	18: 42,529,053 (GRCm39)	M332T	probably damaging	Het
Pramel19	C	T	4: 101,798,424 (GRCm39)	P132S	probably benign	Het
Pramel58	T	A	5: 94,831,790 (GRCm39)	C266S	probably benign	Het
Prg4	G	A	1: 150,331,692 (GRCm39)	S327L	possibly damaging	Het
Rdh5	C	T	10: 128,754,136 (GRCm39)	R99H	probably benign	Het
Setd1a	T	C	7: 127,383,292 (GRCm39)	F263L	unknown	Het
Setd2	A	G	9: 110,423,338 (GRCm39)	N353S		Het
Sh3gl1	T	C	17: 56,326,321 (GRCm39)	N109S	probably benign	Het
Sidt1	A	T	16: 44,107,705 (GRCm39)	Y188*	probably null	Het
Slc25a13	A	T	6: 6,073,513 (GRCm39)	N448K	probably damaging	Het
Slc44a5	G	A	3: 153,975,667 (GRCm39)	V693M	probably benign	Het
Smad7	T	C	18: 75,503,968 (GRCm39)	S206P	probably damaging	Het
Snx33	T	A	9: 56,833,476 (GRCm39)	I198F	possibly damaging	Het
Vps13d	A	T	4: 144,897,009 (GRCm39)		probably benign	Het
Vps33b	T	C	7: 79,937,617 (GRCm39)	V455A	probably benign	Het
Zdbf2	CGCTCCGTGCCCCCCGCGCGCCCCGTGCCTCCCACGCGCCCCGTGCCTCCCGCAGGCTCCGTGCCCCCCGCG	CGCTCCGTGCCCCCCGCG	1: 63,348,729 (GRCm39)		probably benign	Het
Zfp26	A	T	9: 20,348,373 (GRCm39)	H730Q	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
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
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'- CTTTAGTGTCATGCCCCTAAGG -3'
(R):5'- TTAAAGCCACCCCTAGGATGC -3'

Sequencing Primer
(F):5'- TGGGCTCTGGCATCATAGAAC -3'
(R):5'- GGATGCTGTCCCCTCCATAG -3'

Posted On

2020-10-20