Mutagenetix > Incidental Mutations

Incidental Mutation 'R7044:Mfge8'

547210

Institutional Source

Beutler Lab

Gene Symbol

Mfge8

Ensembl Gene

ENSMUSG00000030605

Gene Name

milk fat globule-EGF factor 8 protein

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R7044 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79133768-79149060 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79142520 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 219 (V219A)

Ref Sequence

ENSEMBL: ENSMUSP00000032825 (fasta)

Gene Model

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

PDB Structure

NMR Structure of the Mouse MFG-E8 C2 Domain [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000032825
AA Change: V219A

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000032825
Gene: ENSMUSG00000030605
AA Change: V219A

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: ENSMUST00000107409
AA Change: V182A

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103032
Gene: ENSMUSG00000030605
AA Change: V182A

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

probably benign
Transcript: ENSMUST00000205563

Meta Mutation Damage Score

0.7592

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (40/41)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	T	1: 37,612,280	D1169N	possibly damaging	Het
Ankrd6	T	A	4: 32,815,260	Q448L	possibly damaging	Het
Appl1	A	G	14: 26,928,677	S513P	possibly damaging	Het
Cdhr2	A	T	13: 54,733,321	K1066*	probably null	Het
Ckap5	T	C	2: 91,577,601	I824T	probably benign	Het
Ctbp2	T	C	7: 133,015,102	R35G	possibly damaging	Het
Dcdc2c	T	C	12: 28,470,494		probably benign	Het
Eya1	T	A	1: 14,231,410		probably null	Het
Fam105a	A	G	15: 27,657,235		probably benign	Het
Fam207a	T	C	10: 77,514,392	D35G	possibly damaging	Het
Fat4	G	C	3: 39,010,810	A4972P	probably benign	Het
Fat4	C	T	3: 39,010,811	A4972V	probably benign	Het
Fbxl8	T	A	8: 105,267,015	M1K	probably null	Het
Glyat	T	C	19: 12,650,265	S75P	probably benign	Het
Gm3543	T	A	14: 41,980,066	I154F	probably damaging	Het
Gm4565	T	A	7: 22,583,370	M8L	probably benign	Het
Gpr179	T	C	11: 97,349,790	Q269R	probably benign	Het
Hfe2	C	A	3: 96,527,474	H176Q	possibly damaging	Het
Ikzf2	T	C	1: 69,538,901	H483R	possibly damaging	Het
Il25	G	A	14: 54,933,158	A63T	probably benign	Het
Krt27	T	A	11: 99,346,814	N366I	probably benign	Het
Nrbp1	T	C	5: 31,249,946	V373A	probably damaging	Het
Olfr1186	A	G	2: 88,526,486	N301S	probably benign	Het
Pcdh20	A	G	14: 88,469,171	I231T	probably damaging	Het
Pfkp	A	G	13: 6,581,567	W151R	probably damaging	Het
Pikfyve	T	C	1: 65,246,854	I1084T	probably benign	Het
Poteg	T	C	8: 27,449,895	C27R	probably damaging	Het
Ptprz1	G	A	6: 23,044,346	V1266M	probably damaging	Het
Rpa1	T	C	11: 75,312,802	D358G	probably damaging	Het
Snapc4	A	G	2: 26,369,953	S495P	probably damaging	Het
Surf6	A	G	2: 26,899,356	I123T	probably damaging	Het
Sybu	A	T	15: 44,677,695	S324T	possibly damaging	Het
Trim3	A	T	7: 105,618,214	S319R	probably damaging	Het
Trmt11	A	G	10: 30,590,934	F72L	probably benign	Het
Tsks	C	T	7: 44,943,792	R61W	probably damaging	Het
Ube2k	T	C	5: 65,581,429	V36A	possibly damaging	Het
Ube3a	T	C	7: 59,288,413	V688A	probably damaging	Het
Vegfc	A	G	8: 54,157,045	K79E	possibly damaging	Het
Vmn1r77	G	A	7: 12,041,834	R179Q	probably benign	Het
Vmn2r97	T	A	17: 18,914,367	F16I	probably benign	Het
Zfp451	A	T	1: 33,802,167		probably benign	Het
Zfp600	C	T	4: 146,195,322	Q187*	probably null	Het

Other mutations in Mfge8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01284:Mfge8	APN	7	79136782	missense	probably damaging	1.00
IGL01751:Mfge8	APN	7	79136655	critical splice donor site	probably null
IGL02023:Mfge8	APN	7	79145237	intron	probably benign
IGL02112:Mfge8	APN	7	79143340	missense	probably benign
IGL02669:Mfge8	APN	7	79145681	missense	probably benign	0.36
IGL02978:Mfge8	APN	7	79141710	missense	probably damaging	1.00
IGL02978:Mfge8	APN	7	79141728	missense	possibly damaging	0.92
R1587:Mfge8	UTSW	7	79134765	missense	probably damaging	1.00
R1657:Mfge8	UTSW	7	79141773	missense	probably benign
R1716:Mfge8	UTSW	7	79142443	missense	probably damaging	1.00
R4766:Mfge8	UTSW	7	79134525	missense	probably damaging	1.00
R5100:Mfge8	UTSW	7	79143300	missense	probably benign	0.13
R6932:Mfge8	UTSW	7	79143301	missense	probably benign
Z1177:Mfge8	UTSW	7	79145737	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTGGGAGATTCACCCCAAC -3'
(R):5'- AACTTGGGCTTTTCAGAGCG -3'

Sequencing Primer
(F):5'- TGCTTCTCAATCAGTGCTAGAC -3'
(R):5'- GCGTAGGCTCCAGAACCTC -3'

Posted On

2019-05-13