Mutagenetix > Incidental Mutation

Incidental Mutation 'R9249:Egfl8'

701459

Institutional Source

Beutler Lab

Gene Symbol

Egfl8

Ensembl Gene

ENSMUSG00000015467

Gene Name

EGF-like domain 8

Synonyms

NG3

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9249 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34832323-34834945 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34833491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 133 (A133S)

Ref Sequence

ENSEMBL: ENSMUSP00000015611 (fasta)

Gene Model

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

AlphaFold

Q6GUQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000015611
AA Change: A133S

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000015611
Gene: ENSMUSG00000015467
AA Change: A133S

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

possibly damaging
Transcript: ENSMUST00000097345
AA Change: A133S

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000094958
Gene: ENSMUSG00000015467
AA Change: A133S

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

probably benign
Transcript: ENSMUST00000168353
AA Change: A133S

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128433
Gene: ENSMUSG00000015467
AA Change: A133S

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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,220,165 (GRCm39)		probably benign	Het
Arfgef2	T	C	2: 166,733,690 (GRCm39)	F1650S	probably damaging	Het
Bscl2	A	T	19: 8,820,378 (GRCm39)	D133V	probably damaging	Het
Cacna1c	T	C	6: 118,590,288 (GRCm39)	Y1564C		Het
Ccdc182	T	C	11: 88,185,178 (GRCm39)	V86A	probably benign	Het
Cd44	T	G	2: 102,661,747 (GRCm39)	T616P	possibly damaging	Het
Cep152	C	T	2: 125,405,904 (GRCm39)	E1543K	probably benign	Het
Chpf2	C	A	5: 24,794,235 (GRCm39)	T135K	probably damaging	Het
Cntn4	C	T	6: 106,466,722 (GRCm39)	P208L	possibly damaging	Het
Col6a3	T	A	1: 90,707,020 (GRCm39)	Y2638F	unknown	Het
Csmd2	C	A	4: 128,313,323 (GRCm39)	Y1333*	probably null	Het
Cyp3a25	T	C	5: 145,928,356 (GRCm39)	T230A	possibly damaging	Het
Dbndd2	T	C	2: 164,328,077 (GRCm39)		probably benign	Het
Ecpas	T	C	4: 58,869,427 (GRCm39)	K280R	probably damaging	Het
Fasn	T	C	11: 120,703,915 (GRCm39)	H1475R	probably benign	Het
Gdpd5	T	C	7: 99,107,989 (GRCm39)	L522P	probably damaging	Het
Gzmd	T	G	14: 56,368,790 (GRCm39)	M35L	probably damaging	Het
Herc2	T	A	7: 55,762,890 (GRCm39)	L873Q	probably damaging	Het
Hsd3b6	T	C	3: 98,713,679 (GRCm39)	K207E	probably benign	Het
Ikbkb	T	A	8: 23,171,735 (GRCm39)	K171*	probably null	Het
Il21	T	A	3: 37,279,677 (GRCm39)		probably null	Het
Itga1	T	C	13: 115,185,834 (GRCm39)	N56S	probably damaging	Het
Map1lc3b	T	C	8: 122,322,833 (GRCm39)		probably null	Het
Mapk13	A	G	17: 28,988,490 (GRCm39)	Y36C	probably damaging	Het
Myh3	C	T	11: 66,975,855 (GRCm39)	P296S	probably benign	Het
Myo5a	A	G	9: 75,097,279 (GRCm39)	N1319S	possibly damaging	Het
Myot	T	C	18: 44,479,265 (GRCm39)	V334A	probably benign	Het
Ncor2	T	C	5: 125,186,988 (GRCm39)	E12G	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nphs2	G	A	1: 156,144,416 (GRCm39)	R140Q	probably damaging	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Nvl	A	G	1: 180,962,593 (GRCm39)	Y126H	probably damaging	Het
Or1j14	T	C	2: 36,417,559 (GRCm39)	I45T	probably damaging	Het
Or5w1	A	T	2: 87,486,660 (GRCm39)	F202I	probably benign	Het
Or8g29-ps1	T	A	9: 39,200,602 (GRCm39)	N195Y	unknown	Het
Or8g36	A	T	9: 39,422,149 (GRCm39)	I289N	probably damaging	Het
Osbpl8	T	A	10: 111,122,012 (GRCm39)	D651E	probably benign	Het
Papola	T	A	12: 105,799,403 (GRCm39)	H677Q	probably benign	Het
Pcbp3	T	C	10: 76,635,377 (GRCm39)	S59G	probably benign	Het
Pkd1l2	T	A	8: 117,746,159 (GRCm39)	I1944F	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Polb	A	T	8: 23,143,084 (GRCm39)	N37K	probably benign	Het
Ppfia2	T	C	10: 106,749,429 (GRCm39)	V1105A	probably damaging	Het
Ric3	C	T	7: 108,647,212 (GRCm39)	D204N	probably damaging	Het
Scn8a	A	G	15: 100,914,456 (GRCm39)	D1154G	probably benign	Het
Sdk1	C	A	5: 142,129,550 (GRCm39)	N1590K	probably damaging	Het
Sec31a	C	A	5: 100,533,083 (GRCm39)	R163L	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Serpina3i	C	T	12: 104,231,728 (GRCm39)	Q122*	probably null	Het
Sgo2b	A	C	8: 64,391,407 (GRCm39)	Y153*	probably null	Het
Sgsm1	T	A	5: 113,428,201 (GRCm39)	H329L	possibly damaging	Het
Sh3tc2	A	C	18: 62,107,598 (GRCm39)	N203T	possibly damaging	Het
Skint8	C	A	4: 111,794,159 (GRCm39)	T183K	probably damaging	Het
Slc6a20a	T	C	9: 123,507,941 (GRCm39)		probably benign	Het
Slc8a2	T	C	7: 15,891,156 (GRCm39)	F732S	probably damaging	Het
Spata16	T	C	3: 26,787,030 (GRCm39)	V236A	possibly damaging	Het
Stard5	A	G	7: 83,281,253 (GRCm39)	D2G	probably damaging	Het
Stk25	T	C	1: 93,552,806 (GRCm39)	S328G	probably benign	Het
Tmem39b	A	T	4: 129,572,468 (GRCm39)	M378K	probably damaging	Het
Tspan10	T	C	11: 120,337,051 (GRCm39)	F274L	probably benign	Het
Tssk1	A	T	16: 17,712,724 (GRCm39)	I170L	probably benign	Het
Vmn1r6	A	G	6: 56,979,760 (GRCm39)	R141G	probably benign	Het
Wdfy3	A	G	5: 101,996,359 (GRCm39)	S3168P	possibly damaging	Het
Zfp458	T	A	13: 67,405,218 (GRCm39)	H407L	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
R0278:Egfl8	UTSW	17	34,833,342 (GRCm39)	splice site	probably null
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
Z1088:Egfl8	UTSW	17	34,833,215 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATCGACATCTAGTTACCAGAAAGAG -3'
(R):5'- AGGTACCACAGACACACGTG -3'

Sequencing Primer
(F):5'- TAGTTACCAGAAAGAGAAGAGAGCTC -3'
(R):5'- GCTGTCAGGGCTGGAAG -3'

Posted On

2022-03-25