Mutagenetix > Incidental Mutation

Incidental Mutation 'R8932:Mfge8'

690228

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

068776-MU

Accession Numbers

Essential gene?

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

Stock #

R8932 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78783516-78798808 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78786530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 290 (S290P)

Ref Sequence

ENSEMBL: ENSMUSP00000103032 (fasta)

Gene Model

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

AlphaFold

P21956

Predicted Effect

probably damaging
Transcript: ENSMUST00000032825
AA Change: S327P

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

SMART Domains

Protein: ENSMUSP00000032825
Gene: ENSMUSG00000030605
AA Change: S327P

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 damaging
Transcript: ENSMUST00000107409
AA Change: S290P

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

SMART Domains

Protein: ENSMUSP00000103032
Gene: ENSMUSG00000030605
AA Change: S290P

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

noncoding transcript
Transcript: ENSMUST00000206338

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	G	T	8: 44,105,192 (GRCm39)	T151K	probably benign	Het
Adnp2	C	T	18: 80,185,893 (GRCm39)	G27S	probably damaging	Het
Ank3	A	G	10: 69,660,292 (GRCm39)	M265V	probably benign	Het
Aoc1l1	G	A	6: 48,952,428 (GRCm39)	E118K	probably damaging	Het
Apoe	T	C	7: 19,430,597 (GRCm39)	D215G	possibly damaging	Het
Atp5f1b	A	G	10: 127,924,850 (GRCm39)	I438V	probably benign	Het
Bckdha	A	G	7: 25,330,436 (GRCm39)	S387P	probably damaging	Het
Camkk1	T	C	11: 72,924,734 (GRCm39)	F316L	probably damaging	Het
Carmil1	A	G	13: 24,197,179 (GRCm39)	Y158H		Het
Ccdc148	T	C	2: 58,894,054 (GRCm39)	R29G	probably benign	Het
Ccdc39	A	G	3: 33,884,274 (GRCm39)	V356A	probably benign	Het
Cdan1	G	A	2: 120,561,568 (GRCm39)	Q66*	probably null	Het
Ckap4	A	T	10: 84,364,290 (GRCm39)	S258T	probably benign	Het
Col5a2	T	C	1: 45,419,306 (GRCm39)	D1258G	probably benign	Het
Col6a1	G	A	10: 76,552,593 (GRCm39)	P431L	unknown	Het
Cplane1	A	G	15: 8,223,859 (GRCm39)	Y874C	probably damaging	Het
Csn1s2a	A	G	5: 87,933,164 (GRCm39)	I138V	probably benign	Het
Cyp19a1	C	T	9: 54,083,861 (GRCm39)	G176D	probably benign	Het
Dnah10	A	G	5: 124,878,015 (GRCm39)	E2700G	possibly damaging	Het
Eif3l	T	A	15: 78,960,006 (GRCm39)	Y23*	probably null	Het
Fam72a	A	G	1: 131,456,502 (GRCm39)	K22E	probably benign	Het
Golim4	A	G	3: 75,805,351 (GRCm39)	V258A	probably benign	Het
Gtf2ird2	C	T	5: 134,237,739 (GRCm39)	A272V	probably benign	Het
Hpse	T	C	5: 100,846,872 (GRCm39)	T186A	possibly damaging	Het
Ift140	A	T	17: 25,305,862 (GRCm39)	Q816H	probably benign	Het
Iqca1	A	T	1: 90,067,750 (GRCm39)	I167N	probably damaging	Het
Iqgap1	A	T	7: 80,401,141 (GRCm39)	F515L	probably benign	Het
Itgb4	G	A	11: 115,879,295 (GRCm39)	R558H	probably benign	Het
Kcna10	G	A	3: 107,101,419 (GRCm39)	D17N	probably damaging	Het
Kcnj16	A	G	11: 110,915,829 (GRCm39)	I164V	probably damaging	Het
Lrrc55	G	T	2: 85,026,615 (GRCm39)	N136K	probably damaging	Het
Mdm4	A	T	1: 132,940,382 (GRCm39)	M50K	probably benign	Het
Mindy4	G	A	6: 55,201,115 (GRCm39)	D267N	probably benign	Het
Mllt10	T	A	2: 18,128,617 (GRCm39)	S199R	probably benign	Het
Mms22l	T	C	4: 24,533,029 (GRCm39)	S436P	probably damaging	Het
Mpped2	A	G	2: 106,697,395 (GRCm39)	N290S	possibly damaging	Het
Mrgpra2a	A	G	7: 47,076,445 (GRCm39)	L271P	probably benign	Het
Myrf	T	A	19: 10,200,931 (GRCm39)	E247D	probably benign	Het
Ndrg3	A	G	2: 156,782,299 (GRCm39)	I189T	possibly damaging	Het
Nenf	C	T	1: 191,050,148 (GRCm39)	E48K	probably benign	Het
Nlgn2	T	A	11: 69,718,994 (GRCm39)	N232Y	probably damaging	Het
Oog2	G	T	4: 143,920,685 (GRCm39)	M39I	probably benign	Het
Or9r7	A	T	10: 129,962,631 (GRCm39)	N98K	probably benign	Het
Osbpl3	A	T	6: 50,304,371 (GRCm39)	N461K	probably benign	Het
P4ha1	A	G	10: 59,175,130 (GRCm39)	D30G	possibly damaging	Het
Pappa2	A	T	1: 158,590,762 (GRCm39)	C1631S	probably damaging	Het
Pigk	A	G	3: 152,445,871 (GRCm39)	M161V	possibly damaging	Het
Prdm1	G	T	10: 44,317,335 (GRCm39)	S496Y	probably damaging	Het
Prkg2	T	C	5: 99,095,299 (GRCm39)	N624S	possibly damaging	Het
Rgs6	A	G	12: 83,112,733 (GRCm39)	D181G	probably damaging	Het
Sbf2	A	G	7: 110,040,155 (GRCm39)		probably null	Het
Sbno2	A	C	10: 79,898,042 (GRCm39)	L728W	probably damaging	Het
Selenbp2	A	T	3: 94,609,793 (GRCm39)	I310F	probably damaging	Het
Shank3	T	A	15: 89,432,986 (GRCm39)	W1244R	possibly damaging	Het
Slc34a1	A	C	13: 24,004,184 (GRCm39)	I395L	probably benign	Het
Slf1	A	T	13: 77,194,693 (GRCm39)	D877E	probably damaging	Het
Smtn	T	C	11: 3,472,908 (GRCm39)	S255G	probably benign	Het
Tbx2	T	A	11: 85,725,533 (GRCm39)	D161E	probably damaging	Het
Tex14	C	A	11: 87,324,675 (GRCm39)	L26M	possibly damaging	Het
Traf7	A	G	17: 24,731,286 (GRCm39)	F249S	probably damaging	Het
Trpm6	A	G	19: 18,815,366 (GRCm39)	K1151E	possibly damaging	Het
Ttc7b	A	G	12: 100,268,022 (GRCm39)	V773A	probably benign	Het
Ttn	G	A	2: 76,747,912 (GRCm39)	T4379I	probably benign	Het
Ttn	G	A	2: 76,602,854 (GRCm39)	T18456I	probably damaging	Het
Ttn	G	C	2: 76,709,171 (GRCm39)	L8703V	unknown	Het
Ubb	T	A	11: 62,442,979 (GRCm39)	I3N	probably damaging	Het
Vmn1r209	A	T	13: 22,990,343 (GRCm39)	W116R	probably damaging	Het
Vmn1r75	A	G	7: 11,614,838 (GRCm39)	D190G	probably damaging	Het
Wdr12	T	A	1: 60,130,202 (GRCm39)	M70L	probably benign	Het
Wdr48	C	A	9: 119,740,142 (GRCm39)	T317K	probably damaging	Het
Zbtb5	A	G	4: 44,993,962 (GRCm39)	V474A	probably benign	Het
Zfp128	C	T	7: 12,625,113 (GRCm39)	R494C	possibly damaging	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
R1587:Mfge8	UTSW	7	78,784,513 (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
Z1177:Mfge8	UTSW	7	78,795,485 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATCCCTTGGAGAGCAGACAG -3'
(R):5'- GGCTGGAGGATCTTCTAATAGG -3'

Sequencing Primer
(F):5'- CTTGGAGAGCAGACAGGGCTG -3'
(R):5'- TTTAAGTCAGCCTGGGCAAC -3'

Posted On

2021-11-19