Incidental Mutation 'IGL02401:Mcfd2'
ID 291876
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcfd2
Ensembl Gene ENSMUSG00000024150
Gene Name multiple coagulation factor deficiency 2
Synonyms LMAN1IP, 1810021C21Rik, F5F8D
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # IGL02401
Quality Score
Status
Chromosome 17
Chromosomal Location 87561871-87573363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87564592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 97 (T97A)
Ref Sequence ENSEMBL: ENSMUSP00000121820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024963] [ENSMUST00000129616] [ENSMUST00000144236] [ENSMUST00000145895] [ENSMUST00000151155] [ENSMUST00000155904]
AlphaFold Q8K5B2
Predicted Effect probably damaging
Transcript: ENSMUST00000024963
AA Change: T97A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024963
Gene: ENSMUSG00000024150
AA Change: T97A

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:EF-hand_7 45 144 6.1e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129616
AA Change: T97A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123352
Gene: ENSMUSG00000024150
AA Change: T97A

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:EF-hand_7 40 144 2.5e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139258
Predicted Effect probably damaging
Transcript: ENSMUST00000144236
AA Change: T97A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121820
Gene: ENSMUSG00000024150
AA Change: T97A

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:EF-hand_7 40 144 2.5e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000145895
AA Change: T97A

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117105
Gene: ENSMUSG00000024150
AA Change: T97A

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
PDB:2VRG|A 36 104 8e-40 PDB
Blast:EFh 71 99 3e-9 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000151155
AA Change: T97A

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119856
Gene: ENSMUSG00000024150
AA Change: T97A

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
PDB:2VRG|A 36 131 8e-60 PDB
Blast:EFh 71 99 2e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000155904
SMART Domains Protein: ENSMUSP00000114354
Gene: ENSMUSG00000024150

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
PDB:2VRG|A 36 74 8e-19 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef18 C T 8: 3,487,078 (GRCm39) R266C probably damaging Het
Asb11 A T X: 163,241,753 (GRCm39) probably benign Het
Cnot1 G A 8: 96,482,761 (GRCm39) T764M possibly damaging Het
Galns A G 8: 123,331,938 (GRCm39) M59T probably damaging Het
Gm5884 A G 6: 128,622,377 (GRCm39) noncoding transcript Het
Gm9312 A C 12: 24,302,106 (GRCm39) noncoding transcript Het
Lama3 T C 18: 12,690,784 (GRCm39) F1268S probably benign Het
Lrp5 A G 19: 3,643,585 (GRCm39) C1347R probably damaging Het
Lrrfip1 T C 1: 91,042,650 (GRCm39) S352P probably benign Het
Mroh2b A G 15: 4,929,983 (GRCm39) N23S possibly damaging Het
Nr1i3 A T 1: 171,043,942 (GRCm39) probably benign Het
Or4c10b T C 2: 89,711,797 (GRCm39) F209S probably damaging Het
Or8b48 C T 9: 38,492,651 (GRCm39) P26L probably damaging Het
Orm2 A C 4: 63,281,568 (GRCm39) I100L probably benign Het
Pbsn A G X: 76,886,129 (GRCm39) M126T probably benign Het
Rpgr G T X: 10,024,956 (GRCm39) T1026K possibly damaging Het
Sdhaf3 C T 6: 7,038,855 (GRCm39) T59M probably benign Het
Shq1 T C 6: 100,625,208 (GRCm39) Y217C probably damaging Het
Slc17a8 A T 10: 89,412,522 (GRCm39) probably null Het
Slc6a19 A G 13: 73,848,709 (GRCm39) I15T probably damaging Het
Smarcd3 A T 5: 24,798,717 (GRCm39) V335E probably damaging Het
Sugp2 A G 8: 70,695,821 (GRCm39) T265A possibly damaging Het
Tfrc T G 16: 32,435,999 (GRCm39) S225R probably damaging Het
Vsig10l T A 7: 43,113,468 (GRCm39) L140Q probably damaging Het
Zbtb46 T A 2: 181,065,245 (GRCm39) T302S probably benign Het
Znhit1 T C 5: 137,011,513 (GRCm39) Y105C probably damaging Het
Other mutations in Mcfd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2061:Mcfd2 UTSW 17 87,563,404 (GRCm39) missense probably damaging 1.00
R4380:Mcfd2 UTSW 17 87,565,387 (GRCm39) missense possibly damaging 0.91
R6461:Mcfd2 UTSW 17 87,565,494 (GRCm39) missense probably benign 0.23
R9614:Mcfd2 UTSW 17 87,565,421 (GRCm39) missense probably benign
Posted On 2015-04-16