Mutagenetix > Incidental Mutation

Incidental Mutation 'R4032:Megf6'

313527

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 #

R4032 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154255187-154360170 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 154261550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 58 (C58*)

Ref Sequence

ENSEMBL: ENSMUSP00000030897 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000030897
AA Change: C58*

SMART Domains

Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: C58*

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: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Arhgap17	G	T	7: 122,879,289 (GRCm39)		probably benign	Het
Atp13a4	T	A	16: 29,237,389 (GRCm39)	M846L	probably damaging	Het
Capn5	G	T	7: 97,778,453 (GRCm39)	Q389K	probably damaging	Het
Cdkl3	T	A	11: 51,902,118 (GRCm39)	I109N	probably damaging	Het
Cry2	T	C	2: 92,244,172 (GRCm39)	I334V	probably benign	Het
Cs	T	C	10: 128,196,913 (GRCm39)	L436P	probably damaging	Het
D17H6S53E	T	C	17: 35,346,355 (GRCm39)	S89P	probably benign	Het
Dync1h1	C	T	12: 110,584,483 (GRCm39)	Q629*	probably null	Het
H4c12	T	C	13: 21,934,588 (GRCm39)	I30V	possibly damaging	Het
Itpka	C	T	2: 119,573,082 (GRCm39)	P75S	probably benign	Het
Lyst	C	T	13: 13,791,250 (GRCm39)	H38Y	probably damaging	Het
Mansc4	T	C	6: 146,976,678 (GRCm39)	K313E	probably benign	Het
Mtor	T	C	4: 148,621,209 (GRCm39)	V1869A	probably benign	Het
Mybpc1	T	C	10: 88,365,426 (GRCm39)	D899G	probably benign	Het
Nek10	C	A	14: 14,853,877 (GRCm38)		probably null	Het
Nfkb1	T	C	3: 135,300,110 (GRCm39)	S657G	possibly damaging	Het
Or10d5j	T	C	9: 39,867,629 (GRCm39)	T213A	probably benign	Het
Or2a25	A	T	6: 42,888,559 (GRCm39)	Y34F	probably benign	Het
Or4m1	T	A	14: 50,557,767 (GRCm39)	D175V	possibly damaging	Het
Or4n5	G	T	14: 50,132,433 (GRCm39)	H275Q	probably benign	Het
Or51f23	A	G	7: 102,453,396 (GRCm39)	K237R	probably benign	Het
Pabir1	C	T	19: 24,454,106 (GRCm39)	M205I	probably benign	Het
Pde1b	A	G	15: 103,429,753 (GRCm39)	D82G	probably damaging	Het
Pdzrn4	C	T	15: 92,667,414 (GRCm39)	T522M	probably damaging	Het
Ptpro	C	A	6: 137,438,740 (GRCm39)	N373K	probably damaging	Het
Ptprs	T	C	17: 56,720,386 (GRCm39)	Y1478C	probably damaging	Het
Sdc2	A	T	15: 33,017,323 (GRCm39)	I46F	probably damaging	Het
Sergef	C	A	7: 46,092,726 (GRCm39)	E428*	probably null	Het
Stk36	A	G	1: 74,665,207 (GRCm39)	S651G	probably benign	Het
Ubr5	A	G	15: 38,025,081 (GRCm39)	V559A		Het
Ugt8a	C	A	3: 125,667,807 (GRCm39)	D345Y	probably damaging	Het
Usp44	A	G	10: 93,683,127 (GRCm39)		probably benign	Het
Vps13a	A	T	19: 16,594,263 (GRCm39)	L3156Q	probably damaging	Het
Zfp655	A	G	5: 145,180,858 (GRCm39)	T239A	possibly damaging	Het
Zfp87	T	C	13: 74,520,449 (GRCm39)	T210A	possibly 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
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'- TTGTCCTGGAGTCCCAAGTG -3'
(R):5'- CTAGAATCTGGGGTGAAAGGCC -3'

Sequencing Primer
(F):5'- TCCCAAGTGGATGCCAGGTG -3'
(R):5'- GGCCATGCCCTCAGTAAAG -3'

Posted On

2015-04-30