Mutagenetix > Incidental Mutation

Incidental Mutation 'R0278:Egfl8'

261825

Institutional Source

Beutler Lab

Gene Symbol

Egfl8

Ensembl Gene

ENSMUSG00000015467

Gene Name

EGF-like domain 8

Synonyms

NG3

MMRRC Submission

038500-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0278 (G1)

Quality Score

163

Status

Not validated

Chromosome

Chromosomal Location

34832323-34834945 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 34833342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015611] [ENSMUST00000037489] [ENSMUST00000064953] [ENSMUST00000097345] [ENSMUST00000114140] [ENSMUST00000166040] [ENSMUST00000168353] [ENSMUST00000173242] [ENSMUST00000174228] [ENSMUST00000173973] [ENSMUST00000168391] [ENSMUST00000174041] [ENSMUST00000171121] [ENSMUST00000169067] [ENSMUST00000171376] [ENSMUST00000174595]

AlphaFold

Q6GUQ1

Predicted Effect

probably null
Transcript: ENSMUST00000015611

SMART Domains

Protein: ENSMUSP00000015611
Gene: ENSMUSG00000015467

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:EMI	36	102	4.3e-20	PFAM
EGF	113	142	5.49e-3	SMART
EGF_CA	144	184	2.58e-8	SMART
coiled coil region	206	228	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000037489

SMART Domains

Protein: ENSMUSP00000048573
Gene: ENSMUSG00000034254

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
low complexity region	66	71	N/A	INTRINSIC
PlsC	95	210	4.64e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000064953

SMART Domains

Protein: ENSMUSP00000068071
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	297	2.2e-19	PFAM
Pfam:Abhydrolase_6	39	273	2.5e-10	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000097345

SMART Domains

Protein: ENSMUSP00000094958
Gene: ENSMUSG00000015467

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:EMI	34	104	3e-16	PFAM
EGF	113	142	5.49e-3	SMART
EGF_CA	144	184	2.58e-8	SMART
coiled coil region	206	228	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114140

SMART Domains

Protein: ENSMUSP00000109776
Gene: ENSMUSG00000034254

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
low complexity region	66	71	N/A	INTRINSIC
PlsC	95	210	4.64e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166040

SMART Domains

Protein: ENSMUSP00000132006
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	289	9e-19	PFAM
Pfam:Abhydrolase_1	37	173	9e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170850

Predicted Effect

probably null
Transcript: ENSMUST00000168353

SMART Domains

Protein: ENSMUSP00000128433
Gene: ENSMUSG00000015467

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:EMI	34	104	7.4e-16	PFAM
EGF	113	142	5.49e-3	SMART
EGF_CA	144	184	2.58e-8	SMART
coiled coil region	206	228	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173242

SMART Domains

Protein: ENSMUSP00000134242
Gene: ENSMUSG00000034254

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
transmembrane domain	35	57	N/A	INTRINSIC
low complexity region	66	71	N/A	INTRINSIC
Pfam:Acyltransferase	80	149	1.2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174228

SMART Domains

Protein: ENSMUSP00000133876
Gene: ENSMUSG00000034254

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173973

SMART Domains

Protein: ENSMUSP00000133947
Gene: ENSMUSG00000034254

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
transmembrane domain	35	57	N/A	INTRINSIC
low complexity region	66	71	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168391

SMART Domains

Protein: ENSMUSP00000132339
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	297	2.2e-19	PFAM
Pfam:Abhydrolase_6	39	273	2.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174041

SMART Domains

Protein: ENSMUSP00000133441
Gene: ENSMUSG00000034254

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
low complexity region	66	71	N/A	INTRINSIC
PlsC	95	198	6.63e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171121

SMART Domains

Protein: ENSMUSP00000127745
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	297	2.2e-19	PFAM
Pfam:Abhydrolase_6	39	273	2.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169067

SMART Domains

Protein: ENSMUSP00000127372
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	297	2.2e-19	PFAM
Pfam:Abhydrolase_6	39	273	2.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169969

SMART Domains

Protein: ENSMUSP00000127726
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
Pfam:Abhydrolase_1	18	139	9e-8	PFAM
Pfam:Palm_thioest	116	234	1.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171376

SMART Domains

Protein: ENSMUSP00000131243
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	297	2.2e-19	PFAM
Pfam:Abhydrolase_6	39	273	2.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174595

SMART Domains

Protein: ENSMUSP00000134358
Gene: ENSMUSG00000034254

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
low complexity region	66	71	N/A	INTRINSIC
PlsC	95	210	4.64e-42	SMART

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.4%
20x: 90.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice show no notable phenotype in a high-throughput phenotype screen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,328,215 (GRCm39)	S3429R	probably damaging	Het
Abca3	A	G	17: 24,600,894 (GRCm39)	D436G	probably benign	Het
Acacb	C	A	5: 114,371,320 (GRCm39)	Y1816*	probably null	Het
Acer3	T	C	7: 97,910,804 (GRCm39)	Y86C	probably damaging	Het
Adgre1	A	G	17: 57,754,872 (GRCm39)	I657V	probably benign	Het
Akap1	A	G	11: 88,736,020 (GRCm39)	V214A	probably benign	Het
Ankrd42	T	C	7: 92,280,865 (GRCm39)	R22G	possibly damaging	Het
Apc2	C	T	10: 80,148,647 (GRCm39)	P1234S	possibly damaging	Het
Atp13a4	A	G	16: 29,273,652 (GRCm39)	I441T	probably damaging	Het
Cenpu	G	A	8: 47,031,344 (GRCm39)	A242T	probably damaging	Het
Col6a6	A	T	9: 105,644,487 (GRCm39)	V1267E	possibly damaging	Het
Crhr2	T	C	6: 55,094,516 (GRCm39)	T58A	probably benign	Het
Ddx6	T	G	9: 44,542,722 (GRCm39)	C385G	probably damaging	Het
Dnah7a	A	T	1: 53,543,305 (GRCm39)	N2288K	probably benign	Het
Elmo2	A	T	2: 165,139,287 (GRCm39)	I420N	probably damaging	Het
Elovl4	A	G	9: 83,665,248 (GRCm39)	F113L	probably benign	Het
Fancd2	T	A	6: 113,525,409 (GRCm39)		probably null	Het
Fbxl13	A	G	5: 21,728,908 (GRCm39)	V456A	probably benign	Het
Fgfr2	A	T	7: 129,863,592 (GRCm39)		probably null	Het
Fkbpl	A	T	17: 34,864,384 (GRCm39)	R51*	probably null	Het
Fn3krp	G	A	11: 121,312,406 (GRCm39)	V40M	probably damaging	Het
Fnip1	A	G	11: 54,380,169 (GRCm39)		probably null	Het
Gm15446	A	T	5: 110,091,281 (GRCm39)	Q511L	probably benign	Het
Gm7334	A	G	17: 51,006,289 (GRCm39)	K192E	probably damaging	Het
H2-Q10	A	T	17: 35,784,204 (GRCm39)	T282S	possibly damaging	Het
Hspa9	A	G	18: 35,073,963 (GRCm39)	V482A	possibly damaging	Het
Ica1l	A	T	1: 60,053,155 (GRCm39)	S128T	probably benign	Het
Il7r	A	T	15: 9,516,423 (GRCm39)	I126K	probably damaging	Het
Kcnj8	T	C	6: 142,516,074 (GRCm39)	E11G	probably benign	Het
Klkb1	A	C	8: 45,725,446 (GRCm39)	F498V	probably benign	Het
Lama1	A	G	17: 68,117,178 (GRCm39)	E2491G	probably null	Het
Lhfpl2	T	C	13: 94,310,943 (GRCm39)	V71A	probably benign	Het
Lin9	T	C	1: 180,493,488 (GRCm39)	I198T	probably damaging	Het
Lrrc7	T	A	3: 157,885,432 (GRCm39)	M431L	possibly damaging	Het
Nmt2	A	G	2: 3,326,424 (GRCm39)	T519A	probably benign	Het
Or10w1	C	A	19: 13,632,128 (GRCm39)	L112I	probably damaging	Het
Or10w1	T	A	19: 13,632,129 (GRCm39)	L112H	probably damaging	Het
Or1d2	T	C	11: 74,256,028 (GRCm39)	F178L	probably damaging	Het
Or4a74	G	T	2: 89,440,108 (GRCm39)	L113M	probably damaging	Het
Or4a74	A	T	2: 89,440,107 (GRCm39)	L113Q	probably damaging	Het
Or5al7	A	T	2: 85,992,923 (GRCm39)	Y123*	probably null	Het
Or7h8	G	T	9: 20,124,182 (GRCm39)	C179F	probably damaging	Het
Parp4	A	G	14: 56,844,980 (GRCm39)	R624G	probably damaging	Het
Pex16	C	T	2: 92,211,401 (GRCm39)	P325S	probably damaging	Het
Pik3ca	T	C	3: 32,493,902 (GRCm39)	M288T	possibly damaging	Het
Pla2g5	C	T	4: 138,527,967 (GRCm39)	D100N	probably benign	Het
Prss43	T	A	9: 110,656,430 (GRCm39)	M39K	probably benign	Het
Psd4	T	C	2: 24,284,450 (GRCm39)	S105P	probably damaging	Het
Ptprz1	T	A	6: 23,000,816 (GRCm39)	S969T	probably benign	Het
Rad23b	T	A	4: 55,383,575 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rpl10l	A	G	12: 66,331,130 (GRCm39)	M1T	probably null	Het
Sec16a	A	G	2: 26,318,328 (GRCm39)	S1588P	probably damaging	Het
Sh3rf1	A	T	8: 61,827,052 (GRCm39)	H602L	probably damaging	Het
Sparcl1	A	T	5: 104,236,263 (GRCm39)	S497T	probably benign	Het
Spata13	A	G	14: 60,929,537 (GRCm39)	Y365C	probably benign	Het
Trim5	T	C	7: 103,928,882 (GRCm39)	N20D	probably benign	Het
Vmn1r201	G	T	13: 22,659,194 (GRCm39)	W136L	probably damaging	Het
Vmn2r112	A	G	17: 22,821,987 (GRCm39)	I222V	probably benign	Het
Vmn2r56	A	T	7: 12,449,644 (GRCm39)	V198D	probably damaging	Het
Wapl	A	G	14: 34,414,569 (GRCm39)	D477G	possibly damaging	Het
Zfp202	C	A	9: 40,119,778 (GRCm39)	H194N	probably benign	Het
Zfp212	C	T	6: 47,903,453 (GRCm39)	R13W	probably damaging	Het

Other mutations in Egfl8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01746:Egfl8	APN	17	34,833,890 (GRCm39)	missense	probably damaging	1.00
R0453:Egfl8	UTSW	17	34,833,856 (GRCm39)	missense	probably damaging	1.00
R2268:Egfl8	UTSW	17	34,832,832 (GRCm39)	missense	probably damaging	0.98
R2269:Egfl8	UTSW	17	34,832,832 (GRCm39)	missense	probably damaging	0.98
R4923:Egfl8	UTSW	17	34,833,171 (GRCm39)	missense	probably benign	0.20
R5398:Egfl8	UTSW	17	34,833,613 (GRCm39)	unclassified	probably benign
R8542:Egfl8	UTSW	17	34,833,243 (GRCm39)	missense	probably damaging	1.00
R8921:Egfl8	UTSW	17	34,833,751 (GRCm39)	missense	probably damaging	1.00
R9103:Egfl8	UTSW	17	34,833,210 (GRCm39)	missense	probably benign	0.34
R9249:Egfl8	UTSW	17	34,833,491 (GRCm39)	missense	probably benign	0.39
Z1088:Egfl8	UTSW	17	34,833,215 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

Posted On

2015-02-04