Mutagenetix > Incidental Mutation

Incidental Mutation 'R8460:Megf9'

655208

Institutional Source

Beutler Lab

Gene Symbol

Megf9

Ensembl Gene

ENSMUSG00000039270

Gene Name

multiple EGF-like-domains 9

Synonyms

Egfl5, 4933405H16Rik

MMRRC Submission

067905-MU

Accession Numbers

Essential gene?

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

Stock #

R8460 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70350164-70453165 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70374208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 276 (V276D)

Ref Sequence

ENSEMBL: ENSMUSP00000102982 (fasta)

Gene Model

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

AlphaFold

Q8BH27

Predicted Effect

probably damaging
Transcript: ENSMUST00000107359
AA Change: V276D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102982
Gene: ENSMUSG00000039270
AA Change: V276D

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

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
Megf6	T	A	4: 154,350,634 (GRCm39)	C1048*	probably null	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 Megf9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01604:Megf9	APN	4	70,367,028 (GRCm39)	missense	probably null	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AAAAGTCTGACTTGCCATATGCC -3'
(R):5'- ACTGGTGGTTTGACTGCATATATC -3'

Sequencing Primer
(F):5'- GAATCAATGCATTAAGGCTTCAAG -3'
(R):5'- AACTGAACATGGGCCCTCTG -3'

Posted On

2020-10-20