Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01604:Megf9'

92671

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Megf9

Ensembl Gene

ENSMUSG00000039270

Gene Name

multiple EGF-like-domains 9

Synonyms

Egfl5, 4933405H16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

IGL01604

Quality Score

Status

Chromosome

Chromosomal Location

70350164-70453165 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 70367028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 318 (C318F)

Ref Sequence

ENSEMBL: ENSMUSP00000102982 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107359]

AlphaFold

Q8BH27

Predicted Effect

probably null
Transcript: ENSMUST00000107359
AA Change: C318F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102982
Gene: ENSMUSG00000039270
AA Change: C318F

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
low complexity region	150	166	N/A	INTRINSIC
low complexity region	183	199	N/A	INTRINSIC
EGF_Lam	202	249	2.8e-9	SMART
TNFR	236	272	1.26e-1	SMART
EGF_Lam	252	296	2.13e-9	SMART
EGF_Lam	299	344	1.42e-10	SMART
EGF_Lam	347	395	6.3e-3	SMART
EGF_Lam	398	447	3.05e-10	SMART
transmembrane domain	513	535	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,168,462 (GRCm39)	I1416L	possibly damaging	Het
Abcc4	A	T	14: 118,765,406 (GRCm39)	M992K	possibly damaging	Het
Adnp	A	G	2: 168,026,258 (GRCm39)	S346P	probably damaging	Het
Atad2b	A	T	12: 5,015,837 (GRCm39)		probably benign	Het
Cblif	A	G	19: 11,735,126 (GRCm39)	T249A	probably benign	Het
Ccl12	A	G	11: 81,994,059 (GRCm39)	*105W	probably null	Het
Chd1	A	G	17: 15,990,359 (GRCm39)	D1637G	possibly damaging	Het
Cpeb2	T	C	5: 43,436,038 (GRCm39)		probably null	Het
Cul4a	T	C	8: 13,183,843 (GRCm39)		probably null	Het
Dlg1	T	A	16: 31,675,256 (GRCm39)		probably benign	Het
Fam171b	A	G	2: 83,709,944 (GRCm39)	T539A	possibly damaging	Het
Fcgbpl1	A	G	7: 27,854,749 (GRCm39)	N1792D	probably benign	Het
Gm9696	A	C	3: 59,879,723 (GRCm39)		noncoding transcript	Het
Jmjd1c	T	C	10: 67,085,541 (GRCm39)	F2444L	probably damaging	Het
Knl1	T	A	2: 118,900,482 (GRCm39)	F728I	probably damaging	Het
Mpi	G	A	9: 57,458,025 (GRCm39)	A59V	possibly damaging	Het
Mrps28	A	G	3: 8,965,130 (GRCm39)	I103T	probably damaging	Het
Msantd2	G	A	9: 37,434,144 (GRCm39)	R329H	probably benign	Het
Myh7b	C	T	2: 155,474,327 (GRCm39)	L1681F	probably damaging	Het
Nf1	C	T	11: 79,332,535 (GRCm39)		probably benign	Het
Or4k52	A	G	2: 111,610,935 (GRCm39)	K90R	possibly damaging	Het
Or5b119	G	A	19: 13,456,612 (GRCm39)		probably benign	Het
Rapgef6	G	A	11: 54,585,389 (GRCm39)	E1596K	probably damaging	Het
Serpinb3b	T	C	1: 107,082,454 (GRCm39)	E270G	probably benign	Het
Skor2	C	A	18: 76,947,646 (GRCm39)	A456E	possibly damaging	Het
Slc13a2	A	G	11: 78,294,221 (GRCm39)	I220T	possibly damaging	Het
Slc6a1	T	A	6: 114,291,362 (GRCm39)	M361K	probably damaging	Het
Tars2	G	A	3: 95,647,590 (GRCm39)	R608C	probably damaging	Het
Tctn3	T	C	19: 40,593,746 (GRCm39)		probably null	Het
Tex14	A	G	11: 87,400,524 (GRCm39)	I439V	possibly damaging	Het
Thbs2	T	A	17: 14,899,031 (GRCm39)	I690F	probably benign	Het
Vwa8	A	G	14: 79,418,244 (GRCm39)	I1684V	possibly damaging	Het
Xdh	T	C	17: 74,216,332 (GRCm39)	I705V	probably benign	Het

Other mutations in Megf9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01697:Megf9	APN	4	70,351,709 (GRCm39)	missense	possibly damaging	0.65
IGL03291:Megf9	APN	4	70,406,387 (GRCm39)	missense	probably benign	0.05
R0020:Megf9	UTSW	4	70,406,386 (GRCm39)	missense	probably benign	0.45
R0325:Megf9	UTSW	4	70,374,178 (GRCm39)	missense	probably damaging	1.00
R0542:Megf9	UTSW	4	70,353,585 (GRCm39)	missense	probably benign
R1144:Megf9	UTSW	4	70,452,861 (GRCm39)	missense	probably benign	0.10
R1843:Megf9	UTSW	4	70,453,022 (GRCm39)	missense	probably damaging	1.00
R2085:Megf9	UTSW	4	70,367,004 (GRCm39)	missense	probably damaging	1.00
R2168:Megf9	UTSW	4	70,351,679 (GRCm39)	missense	probably damaging	0.99
R4656:Megf9	UTSW	4	70,367,004 (GRCm39)	missense	probably damaging	1.00
R4718:Megf9	UTSW	4	70,367,015 (GRCm39)	missense	possibly damaging	0.49
R4832:Megf9	UTSW	4	70,452,665 (GRCm39)	missense	probably damaging	0.99
R6573:Megf9	UTSW	4	70,406,409 (GRCm39)	nonsense	probably null
R6978:Megf9	UTSW	4	70,351,766 (GRCm39)	missense	probably benign	0.12
R7243:Megf9	UTSW	4	70,353,708 (GRCm39)	missense	probably benign	0.03
R7481:Megf9	UTSW	4	70,351,679 (GRCm39)	missense	probably damaging	0.99
R8063:Megf9	UTSW	4	70,406,495 (GRCm39)	missense	probably damaging	1.00
R8460:Megf9	UTSW	4	70,374,208 (GRCm39)	missense	probably damaging	1.00
R8746:Megf9	UTSW	4	70,353,511 (GRCm39)	missense	probably damaging	1.00
R8983:Megf9	UTSW	4	70,353,634 (GRCm39)	missense	probably benign	0.29
R9318:Megf9	UTSW	4	70,353,691 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09