Mutagenetix > Incidental Mutation

Incidental Mutation 'R1587:Mfge8'

177568

Institutional Source

Beutler Lab

Gene Symbol

Mfge8

Ensembl Gene

ENSMUSG00000030605

Gene Name

milk fat globule EGF and factor V/VIII domain containing

Synonyms

Mfgm, SED1, lactadherin, MFG-E8, EGF/factor VIII

MMRRC Submission

039624-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

R1587 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78783516-78798808 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78784513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 344 (I344F)

Ref Sequence

ENSEMBL: ENSMUSP00000103032 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032825] [ENSMUST00000032827] [ENSMUST00000107409] [ENSMUST00000205563] [ENSMUST00000205782] [ENSMUST00000206092]

AlphaFold

P21956

Predicted Effect

probably damaging
Transcript: ENSMUST00000032825
AA Change: I381F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032825
Gene: ENSMUSG00000030605
AA Change: I381F

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
EGF	27	61	2.43e-4	SMART
EGF	67	108	1.41e-5	SMART
low complexity region	123	138	N/A	INTRINSIC
FA58C	147	303	1.94e-43	SMART
FA58C	307	463	1.24e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000032827

SMART Domains

Protein: ENSMUSP00000032827
Gene: ENSMUSG00000030606

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IGv	65	148	3.28e-8	SMART
LINK	164	261	1.78e-46	SMART
LINK	265	357	3.14e-47	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107409
AA Change: I344F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103032
Gene: ENSMUSG00000030605
AA Change: I344F

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
EGF	27	61	2.43e-4	SMART
EGF	67	108	1.41e-5	SMART
FA58C	110	266	3.68e-44	SMART
FA58C	270	426	1.24e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205494

Predicted Effect

probably benign
Transcript: ENSMUST00000205563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205649

Predicted Effect

probably benign
Transcript: ENSMUST00000205782

Predicted Effect

probably benign
Transcript: ENSMUST00000206092

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206338

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane glycoprotein that promotes phagocytosis of apoptotic cells. This protein has also been implicated in wound healing, autoimmune disease, and cancer. Lactadherin can be further processed to form a smaller cleavage product, medin, which comprises the major protein component of aortic medial amyloid (AMA). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display reduced male fertility associated with impaired zona pellucida binding. Fertility is unaffected in female mutant mice. Splenomegaly occurs with age and defects occur in phagocytosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,473,585 (GRCm39)	S111T	probably benign	Het
Abhd2	A	T	7: 79,003,758 (GRCm39)	H279L	probably benign	Het
Ablim1	C	T	19: 57,071,979 (GRCm39)	M1I	probably null	Het
Agrn	T	C	4: 156,263,897 (GRCm39)	Q122R	probably damaging	Het
Arfgef1	A	T	1: 10,230,184 (GRCm39)	F1218I	probably damaging	Het
Bud13	C	T	9: 46,201,513 (GRCm39)	P395S	probably damaging	Het
Ccdc110	G	A	8: 46,394,783 (GRCm39)	V225M	probably benign	Het
Ccdc30	A	T	4: 119,210,373 (GRCm39)	S248T	probably damaging	Het
Cdh20	C	A	1: 110,027,757 (GRCm39)	Q501K	probably damaging	Het
Cwc27	T	C	13: 104,929,145 (GRCm39)	D266G	probably benign	Het
Cyp2d40	T	A	15: 82,645,334 (GRCm39)		probably null	Het
Cyp4a32	T	G	4: 115,467,731 (GRCm39)	N238K	probably benign	Het
Ddx11	T	C	17: 66,456,251 (GRCm39)	L770P	probably damaging	Het
Dgcr8	C	T	16: 18,098,155 (GRCm39)	G412E	probably damaging	Het
Disp2	C	A	2: 118,622,064 (GRCm39)	A932D	probably damaging	Het
Dlg4	T	A	11: 69,922,572 (GRCm39)	N291K	possibly damaging	Het
Dnajc7	A	G	11: 100,492,556 (GRCm39)	I39T	probably damaging	Het
Elp1	G	A	4: 56,786,666 (GRCm39)	Q426*	probably null	Het
Eno3	T	C	11: 70,552,296 (GRCm39)	V316A	probably damaging	Het
Ep400	G	A	5: 110,874,768 (GRCm39)	T944I	probably benign	Het
Ezh2	T	G	6: 47,529,424 (GRCm39)		probably null	Het
F7	A	T	8: 13,084,783 (GRCm39)	I270F	possibly damaging	Het
Fancc	A	G	13: 63,488,246 (GRCm39)	F245L	probably benign	Het
Fzd7	G	A	1: 59,522,165 (GRCm39)	C16Y	possibly damaging	Het
Gm29394	A	G	15: 57,892,008 (GRCm39)	*200Q	probably null	Het
Ints8	A	G	4: 11,245,722 (GRCm39)		probably null	Het
Krt36	A	T	11: 99,993,128 (GRCm39)	I449N	probably damaging	Het
Ldlr	A	T	9: 21,649,209 (GRCm39)	H328L	probably damaging	Het
Limk2	T	C	11: 3,303,455 (GRCm39)	N101S	possibly damaging	Het
Lrp4	A	G	2: 91,306,650 (GRCm39)	N321S	probably benign	Het
Mafk	T	C	5: 139,785,900 (GRCm39)	S33P	probably damaging	Het
Mbtps1	T	C	8: 120,244,958 (GRCm39)	Y831C	probably damaging	Het
Myo5b	T	C	18: 74,867,061 (GRCm39)	V1430A	probably benign	Het
Nbas	G	A	12: 13,608,686 (GRCm39)	R2154H	probably benign	Het
Nlrp6	G	A	7: 140,502,959 (GRCm39)	R355H	probably damaging	Het
Noc4l	T	C	5: 110,800,889 (GRCm39)	T76A	probably benign	Het
Nrp1	T	A	8: 129,202,763 (GRCm39)	C583S	probably damaging	Het
Or2w4	C	T	13: 21,796,083 (GRCm39)	D19N	probably benign	Het
Or5d35	T	A	2: 87,855,477 (GRCm39)	M137K	probably damaging	Het
Pgm5	T	A	19: 24,793,113 (GRCm39)	I318F	probably damaging	Het
Phf1	T	A	17: 27,156,466 (GRCm39)	V536D	probably damaging	Het
Prpf4b	C	A	13: 35,076,133 (GRCm39)	A641D	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbm47	A	G	5: 66,182,334 (GRCm39)	I433T	probably benign	Het
Resf1	G	T	6: 149,228,018 (GRCm39)	V355F	probably damaging	Het
S100a3	G	A	3: 90,509,618 (GRCm39)	E88K	probably benign	Het
Sesn1	A	G	10: 41,687,108 (GRCm39)	I31V	probably benign	Het
Son	T	A	16: 91,456,606 (GRCm39)	S1784R	probably damaging	Het
Srbd1	G	T	17: 86,292,865 (GRCm39)	D901E	probably damaging	Het
St8sia6	C	T	2: 13,677,416 (GRCm39)	D134N	possibly damaging	Het
Synpo2	T	A	3: 122,908,047 (GRCm39)	D423V	probably damaging	Het
Vmn2r108	A	G	17: 20,692,383 (GRCm39)	S158P	probably damaging	Het
Vmn2r109	A	T	17: 20,761,002 (GRCm39)	V785E	probably damaging	Het
Zfp143	A	G	7: 109,673,275 (GRCm39)	D124G	probably benign	Het
Zfp251	A	G	15: 76,754,484 (GRCm39)	L54P	probably damaging	Het
Zfp324	G	T	7: 12,704,570 (GRCm39)	S253I	possibly damaging	Het
Zfp59	A	G	7: 27,553,559 (GRCm39)	E337G	possibly damaging	Het
Zfp663	G	T	2: 165,195,437 (GRCm39)	Q261K	probably benign	Het
Zhx3	T	C	2: 160,623,613 (GRCm39)		probably null	Het

Other mutations in Mfge8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01284:Mfge8	APN	7	78,786,530 (GRCm39)	missense	probably damaging	1.00
IGL01751:Mfge8	APN	7	78,786,403 (GRCm39)	critical splice donor site	probably null
IGL02023:Mfge8	APN	7	78,794,985 (GRCm39)	intron	probably benign
IGL02112:Mfge8	APN	7	78,793,088 (GRCm39)	missense	probably benign
IGL02669:Mfge8	APN	7	78,795,429 (GRCm39)	missense	probably benign	0.36
IGL02978:Mfge8	APN	7	78,791,476 (GRCm39)	missense	possibly damaging	0.92
IGL02978:Mfge8	APN	7	78,791,458 (GRCm39)	missense	probably damaging	1.00
R1657:Mfge8	UTSW	7	78,791,521 (GRCm39)	missense	probably benign
R1716:Mfge8	UTSW	7	78,792,191 (GRCm39)	missense	probably damaging	1.00
R4766:Mfge8	UTSW	7	78,784,273 (GRCm39)	missense	probably damaging	1.00
R5100:Mfge8	UTSW	7	78,793,048 (GRCm39)	missense	probably benign	0.13
R6932:Mfge8	UTSW	7	78,793,049 (GRCm39)	missense	probably benign
R7044:Mfge8	UTSW	7	78,792,268 (GRCm39)	missense	probably benign	0.25
R7824:Mfge8	UTSW	7	78,795,135 (GRCm39)	splice site	probably null
R8932:Mfge8	UTSW	7	78,786,530 (GRCm39)	missense	probably damaging	1.00
Z1177:Mfge8	UTSW	7	78,795,485 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAGTATCCCAGGAATTGTAGCCGGAC -3'
(R):5'- GCACTTCACCGAGCTTTACCGT -3'

Sequencing Primer
(F):5'- ATTGTAGCCGGACAGACAC -3'
(R):5'- ccctcccccacaaatcac -3'

Posted On

2014-04-24