Incidental Mutation 'IGL03223:Igfbp7'
ID413719
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igfbp7
Ensembl Gene ENSMUSG00000036256
Gene Nameinsulin-like growth factor binding protein 7
SynonymsFstl2, mac25, AGM
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03223
Quality Score
Status
Chromosome5
Chromosomal Location77349240-77408041 bp(-) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) A to C at 77349471 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031167] [ENSMUST00000046746] [ENSMUST00000163898]
Predicted Effect probably benign
Transcript: ENSMUST00000031167
SMART Domains Protein: ENSMUSP00000031167
Gene: ENSMUSG00000029250

DomainStartEndE-ValueType
low complexity region 1 16 N/A INTRINSIC
Pfam:RNA_pol_Rpb2_1 38 442 2.5e-69 PFAM
Pfam:RNA_pol_Rpb2_2 201 394 3.7e-57 PFAM
Pfam:RNA_pol_Rpb2_3 468 532 6.1e-25 PFAM
Pfam:RNA_pol_Rpb2_4 567 629 7.4e-27 PFAM
Pfam:RNA_pol_Rpb2_5 653 700 1.6e-22 PFAM
Pfam:RNA_pol_Rpb2_6 707 1080 4.5e-129 PFAM
Pfam:RNA_pol_Rpb2_7 1082 1174 3.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000046746
SMART Domains Protein: ENSMUSP00000045057
Gene: ENSMUSG00000036256

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IB 30 113 9.23e-19 SMART
KAZAL 110 156 6.39e-12 SMART
IG 166 266 5.53e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163898
SMART Domains Protein: ENSMUSP00000128318
Gene: ENSMUSG00000036256

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IB 30 113 9.23e-19 SMART
KAZAL 110 156 6.39e-12 SMART
IG 197 297 5.53e-6 SMART
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 member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit retarded mammary gland developmental in virgin and adult females, reduced mammary gland size and alveolar density during pregnancy, precocious involution in lactating mammary glands, and abnormal milk composition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3b1 T A 19: 3,915,329 H394L probably damaging Het
B430306N03Rik G A 17: 48,316,868 V66I probably damaging Het
Btbd10 T C 7: 113,332,670 N175S probably damaging Het
Dock4 C A 12: 40,817,594 Q1390K probably damaging Het
Eea1 A C 10: 96,039,611 E1248A probably damaging Het
Farp2 T A 1: 93,617,602 Y827* probably null Het
Gcc2 A G 10: 58,298,734 Y1510C probably damaging Het
Il1rapl1 A C X: 87,300,735 C185G probably damaging Het
Itga7 A G 10: 128,948,811 probably benign Het
Itsn1 T C 16: 91,905,306 V12A probably benign Het
Lrrc4 A T 6: 28,831,470 C49S probably damaging Het
Lrrc49 T A 9: 60,687,845 K5N possibly damaging Het
Myh13 T C 11: 67,350,242 I815T probably benign Het
Myh8 T C 11: 67,283,818 I253T probably damaging Het
Myo19 A G 11: 84,910,471 T948A possibly damaging Het
Nhs T A X: 161,841,906 I837F probably damaging Het
Olfr1450 T C 19: 12,953,904 V105A probably benign Het
Olfr1467 G T 19: 13,365,281 V218L probably benign Het
Pfpl A T 19: 12,430,074 Q563L probably damaging Het
Swt1 A G 1: 151,379,419 M809T possibly damaging Het
Tbc1d13 T A 2: 30,148,636 I311N probably damaging Het
Tgs1 T C 4: 3,591,322 probably benign Het
Usf3 C T 16: 44,216,450 T431M probably damaging Het
Vdac1 G A 11: 52,376,655 R93H probably benign Het
Vmn1r234 G A 17: 21,229,391 G189D probably damaging Het
Zfp14 A G 7: 30,038,433 Y376H probably damaging Het
Zfp472 T C 17: 32,977,274 C108R probably benign Het
Zfp658 A G 7: 43,567,311 E35G possibly damaging Het
Other mutations in Igfbp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Igfbp7 APN 5 77352037 splice site probably benign
IGL01528:Igfbp7 APN 5 77351332 missense probably damaging 1.00
IGL02964:Igfbp7 APN 5 77351341 missense possibly damaging 0.65
R0403:Igfbp7 UTSW 5 77355591 missense probably benign 0.36
R0639:Igfbp7 UTSW 5 77351980 missense probably damaging 1.00
R4647:Igfbp7 UTSW 5 77351296 missense possibly damaging 0.93
R4688:Igfbp7 UTSW 5 77407635 missense probably damaging 1.00
R4945:Igfbp7 UTSW 5 77351257 missense probably benign 0.44
R4970:Igfbp7 UTSW 5 77407761 missense possibly damaging 0.83
R7095:Igfbp7 UTSW 5 77401490 missense probably benign 0.28
R7332:Igfbp7 UTSW 5 77351956 missense probably damaging 1.00
R7751:Igfbp7 UTSW 5 77351287 missense probably damaging 1.00
R8243:Igfbp7 UTSW 5 77401492 missense probably benign 0.30
Posted On2016-08-02