Incidental Mutation 'IGL01482:Mfap4'
ID88653
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfap4
Ensembl Gene ENSMUSG00000042436
Gene Namemicrofibrillar-associated protein 4
Synonyms1110007F23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01482
Quality Score
Status
Chromosome11
Chromosomal Location61485431-61488900 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 61487757 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 177 (D177G)
Ref Sequence ENSEMBL: ENSMUSP00000070848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040522] [ENSMUST00000064783] [ENSMUST00000079080] [ENSMUST00000101085] [ENSMUST00000108714] [ENSMUST00000153441]
Predicted Effect probably damaging
Transcript: ENSMUST00000040522
AA Change: D201G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038971
Gene: ENSMUSG00000042436
AA Change: D201G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FBG 38 280 5.6e-119 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000064783
AA Change: D177G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070848
Gene: ENSMUSG00000042436
AA Change: D177G

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: ENSMUST00000125840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126495
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127073
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139663
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152755
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A T 1: 120,171,471 D98V probably benign Het
Aatf G A 11: 84,470,710 R356C possibly damaging Het
Abca15 A T 7: 120,382,746 T1095S probably benign Het
Abca9 A G 11: 110,120,773 F1148S probably benign Het
Adam12 G T 7: 133,967,848 D299E probably damaging Het
Alyref A T 11: 120,595,936 N166K possibly damaging Het
Atxn1 A T 13: 45,557,314 I714N probably benign Het
Bves A G 10: 45,354,806 E291G possibly damaging Het
Chrm2 A G 6: 36,523,757 N183S possibly damaging Het
Dennd2a T C 6: 39,480,309 H733R probably damaging Het
Erbb3 C T 10: 128,572,929 G762S possibly damaging Het
Gm29326 A C 7: 29,560,711 noncoding transcript Het
Gm9866 T A 12: 27,141,894 noncoding transcript Het
Itgb2l A T 16: 96,438,748 L17Q probably damaging Het
Jade1 T A 3: 41,613,502 D668E probably benign Het
Ksr1 G A 11: 79,036,583 T308I probably damaging Het
Muc2 A T 7: 141,754,060 I369F probably damaging Het
Mut C T 17: 40,956,271 R579C probably damaging Het
Myh13 A T 11: 67,352,068 M936L probably benign Het
Nckap5 G T 1: 126,023,160 S1598Y probably damaging Het
Nlrp10 T A 7: 108,926,952 M60L probably benign Het
Nlrp12 T C 7: 3,235,160 N739S possibly damaging Het
Olfr482 A C 7: 108,095,486 V28G probably benign Het
Pappa A T 4: 65,156,034 H275L probably benign Het
Plekhm2 A G 4: 141,630,029 S711P probably damaging Het
Ptpn1 G A 2: 167,967,792 V107M probably damaging Het
Ptprf G A 4: 118,212,454 R1498C probably damaging Het
Rhobtb2 A G 14: 69,796,588 I396T possibly damaging Het
Ryr1 A G 7: 29,052,337 F3668S probably damaging Het
Serpinb6d T C 13: 33,671,363 V340A probably benign Het
Spaca3 G T 11: 80,867,684 V158L probably benign Het
Tdp1 A G 12: 99,891,380 N66S probably benign Het
Tmem132d A T 5: 128,269,206 I84N probably damaging Het
Uggt2 T A 14: 119,057,645 D523V probably damaging Het
Usp17la A T 7: 104,859,393 M1L probably benign Het
Yeats2 C T 16: 20,222,921 T1202I probably damaging Het
Other mutations in Mfap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Mfap4 APN 11 61487781 missense possibly damaging 0.94
R0512:Mfap4 UTSW 11 61487945 missense probably damaging 1.00
R0631:Mfap4 UTSW 11 61487180 missense probably damaging 0.99
R1991:Mfap4 UTSW 11 61485807 critical splice donor site probably null
R2680:Mfap4 UTSW 11 61487231 missense probably benign 0.03
R4614:Mfap4 UTSW 11 61485509 unclassified probably benign
R4616:Mfap4 UTSW 11 61485509 unclassified probably benign
R4617:Mfap4 UTSW 11 61485509 unclassified probably benign
R4675:Mfap4 UTSW 11 61485510 unclassified probably benign
R4987:Mfap4 UTSW 11 61486082 missense probably benign 0.14
R5381:Mfap4 UTSW 11 61487930 missense probably benign 0.06
R6173:Mfap4 UTSW 11 61485419 unclassified probably null
R7640:Mfap4 UTSW 11 61487087 missense probably damaging 1.00
R7695:Mfap4 UTSW 11 61485719 critical splice acceptor site probably null
Posted On2013-11-18