Incidental Mutation 'IGL00818:Mfap4'
ID 11974
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfap4
Ensembl Gene ENSMUSG00000042436
Gene Name microfibrillar-associated protein 4
Synonyms 1110007F23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00818
Quality Score
Status
Chromosome 11
Chromosomal Location 61376257-61379536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61378607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 209 (Q209L)
Ref Sequence ENSEMBL: ENSMUSP00000038971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040522] [ENSMUST00000064783] [ENSMUST00000079080] [ENSMUST00000101085] [ENSMUST00000108714] [ENSMUST00000153441]
AlphaFold Q9D1H9
Predicted Effect possibly damaging
Transcript: ENSMUST00000040522
AA Change: Q209L

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038971
Gene: ENSMUSG00000042436
AA Change: Q209L

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FBG 38 280 5.6e-119 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000064783
AA Change: Q185L

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000070848
Gene: ENSMUSG00000042436
AA Change: Q185L

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FBG 38 257 3.39e-130 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000079080
SMART Domains Protein: ENSMUSP00000078087
Gene: ENSMUSG00000001034

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
S_TKc 55 347 5.66e-96 SMART
low complexity region 433 447 N/A INTRINSIC
low complexity region 476 492 N/A INTRINSIC
coiled coil region 508 544 N/A INTRINSIC
low complexity region 578 603 N/A INTRINSIC
low complexity region 620 644 N/A INTRINSIC
low complexity region 675 692 N/A INTRINSIC
low complexity region 758 772 N/A INTRINSIC
low complexity region 791 803 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101085
SMART Domains Protein: ENSMUSP00000098646
Gene: ENSMUSG00000001034

DomainStartEndE-ValueType
S_TKc 4 277 3.48e-73 SMART
low complexity region 363 377 N/A INTRINSIC
coiled coil region 405 441 N/A INTRINSIC
low complexity region 475 500 N/A INTRINSIC
low complexity region 517 541 N/A INTRINSIC
low complexity region 572 589 N/A INTRINSIC
low complexity region 655 669 N/A INTRINSIC
low complexity region 688 700 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108714
SMART Domains Protein: ENSMUSP00000104354
Gene: ENSMUSG00000001034

DomainStartEndE-ValueType
S_TKc 1 278 1.76e-74 SMART
low complexity region 364 378 N/A INTRINSIC
low complexity region 407 423 N/A INTRINSIC
coiled coil region 439 475 N/A INTRINSIC
low complexity region 509 534 N/A INTRINSIC
low complexity region 551 575 N/A INTRINSIC
low complexity region 606 623 N/A INTRINSIC
low complexity region 689 703 N/A INTRINSIC
low complexity region 722 734 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123360
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139663
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127073
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126495
Predicted Effect probably benign
Transcript: ENSMUST00000153441
SMART Domains Protein: ENSMUSP00000116084
Gene: ENSMUSG00000001034

DomainStartEndE-ValueType
PDB:4IC8|B 1 49 2e-26 PDB
low complexity region 51 65 N/A INTRINSIC
low complexity region 94 110 N/A INTRINSIC
coiled coil region 126 162 N/A INTRINSIC
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 protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spontaneous air space enlargement in female mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,259,475 (GRCm39) T700A probably benign Het
Brinp1 T A 4: 68,681,084 (GRCm39) D482V probably damaging Het
Cmtr2 A T 8: 110,949,732 (GRCm39) T681S probably benign Het
Dcc T A 18: 72,088,083 (GRCm39) M52L probably benign Het
Echdc1 A G 10: 29,193,616 (GRCm39) I38V probably benign Het
Gars1 G T 6: 55,027,338 (GRCm39) G144V probably damaging Het
Gp2 T C 7: 119,049,350 (GRCm39) T396A possibly damaging Het
Gpatch1 T C 7: 34,976,238 (GRCm39) probably null Het
Pdcd2l A T 7: 33,884,158 (GRCm39) M348K possibly damaging Het
Prkdc A T 16: 15,577,618 (GRCm39) T2391S possibly damaging Het
Rxrg C T 1: 167,454,857 (GRCm39) probably benign Het
Serpinb2 A G 1: 107,452,466 (GRCm39) D348G probably benign Het
Tbc1d30 G A 10: 121,102,729 (GRCm39) probably benign Het
Tmtc3 T A 10: 100,307,342 (GRCm39) T221S probably benign Het
Tro C T X: 149,431,357 (GRCm39) G1203D probably damaging Het
Ttn T A 2: 76,552,092 (GRCm39) T31182S probably damaging Het
Zranb3 T C 1: 127,960,604 (GRCm39) Y220C probably damaging Het
Other mutations in Mfap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01482:Mfap4 APN 11 61,378,583 (GRCm39) missense probably damaging 1.00
R0512:Mfap4 UTSW 11 61,378,771 (GRCm39) missense probably damaging 1.00
R0631:Mfap4 UTSW 11 61,378,006 (GRCm39) missense probably damaging 0.99
R1991:Mfap4 UTSW 11 61,376,633 (GRCm39) critical splice donor site probably null
R2680:Mfap4 UTSW 11 61,378,057 (GRCm39) missense probably benign 0.03
R4614:Mfap4 UTSW 11 61,376,335 (GRCm39) unclassified probably benign
R4616:Mfap4 UTSW 11 61,376,335 (GRCm39) unclassified probably benign
R4617:Mfap4 UTSW 11 61,376,335 (GRCm39) unclassified probably benign
R4675:Mfap4 UTSW 11 61,376,336 (GRCm39) unclassified probably benign
R4987:Mfap4 UTSW 11 61,376,908 (GRCm39) missense probably benign 0.14
R5381:Mfap4 UTSW 11 61,378,756 (GRCm39) missense probably benign 0.06
R6173:Mfap4 UTSW 11 61,376,245 (GRCm39) splice site probably null
R7640:Mfap4 UTSW 11 61,377,913 (GRCm39) missense probably damaging 1.00
R7695:Mfap4 UTSW 11 61,376,545 (GRCm39) critical splice acceptor site probably null
R9245:Mfap4 UTSW 11 61,378,007 (GRCm39) missense probably damaging 1.00
R9558:Mfap4 UTSW 11 61,376,965 (GRCm39) missense probably benign 0.02
R9681:Mfap4 UTSW 11 61,376,925 (GRCm39) nonsense probably null
Posted On 2012-12-06