Incidental Mutation 'IGL03223:Igfbp7'
ID 413719
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igfbp7
Ensembl Gene ENSMUSG00000036256
Gene Name insulin-like growth factor binding protein 7
Synonyms AGM, Fstl2, mac25
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03223
Quality Score
Status
Chromosome 5
Chromosomal Location 77497092-77555892 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to C at 77497318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031167] [ENSMUST00000046746] [ENSMUST00000163898]
AlphaFold no structure available at present
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: 3,965,329 (GRCm39) H394L probably damaging Het
B430306N03Rik G A 17: 48,623,896 (GRCm39) V66I probably damaging Het
Btbd10 T C 7: 112,931,877 (GRCm39) N175S probably damaging Het
Dock4 C A 12: 40,867,593 (GRCm39) Q1390K probably damaging Het
Eea1 A C 10: 95,875,473 (GRCm39) E1248A probably damaging Het
Farp2 T A 1: 93,545,324 (GRCm39) Y827* probably null Het
Gcc2 A G 10: 58,134,556 (GRCm39) Y1510C probably damaging Het
Il1rapl1 A C X: 86,344,341 (GRCm39) C185G probably damaging Het
Itga7 A G 10: 128,784,680 (GRCm39) probably benign Het
Itsn1 T C 16: 91,702,194 (GRCm39) V12A probably benign Het
Lrrc4 A T 6: 28,831,469 (GRCm39) C49S probably damaging Het
Lrrc49 T A 9: 60,595,128 (GRCm39) K5N possibly damaging Het
Myh13 T C 11: 67,241,068 (GRCm39) I815T probably benign Het
Myh8 T C 11: 67,174,644 (GRCm39) I253T probably damaging Het
Myo19 A G 11: 84,801,297 (GRCm39) T948A possibly damaging Het
Nhs T A X: 160,624,902 (GRCm39) I837F probably damaging Het
Or5b113 G T 19: 13,342,645 (GRCm39) V218L probably benign Het
Or5b98 T C 19: 12,931,268 (GRCm39) V105A probably benign Het
Pfpl A T 19: 12,407,438 (GRCm39) Q563L probably damaging Het
Swt1 A G 1: 151,255,170 (GRCm39) M809T possibly damaging Het
Tbc1d13 T A 2: 30,038,648 (GRCm39) I311N probably damaging Het
Tgs1 T C 4: 3,591,322 (GRCm39) probably benign Het
Usf3 C T 16: 44,036,813 (GRCm39) T431M probably damaging Het
Vdac1 G A 11: 52,267,482 (GRCm39) R93H probably benign Het
Vmn1r234 G A 17: 21,449,653 (GRCm39) G189D probably damaging Het
Zfp14 A G 7: 29,737,858 (GRCm39) Y376H probably damaging Het
Zfp472 T C 17: 33,196,248 (GRCm39) C108R probably benign Het
Zfp658 A G 7: 43,216,735 (GRCm39) E35G possibly damaging Het
Other mutations in Igfbp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Igfbp7 APN 5 77,499,884 (GRCm39) splice site probably benign
IGL01528:Igfbp7 APN 5 77,499,179 (GRCm39) missense probably damaging 1.00
IGL02964:Igfbp7 APN 5 77,499,188 (GRCm39) missense possibly damaging 0.65
R0403:Igfbp7 UTSW 5 77,503,438 (GRCm39) missense probably benign 0.36
R0639:Igfbp7 UTSW 5 77,499,827 (GRCm39) missense probably damaging 1.00
R4647:Igfbp7 UTSW 5 77,499,143 (GRCm39) missense possibly damaging 0.93
R4688:Igfbp7 UTSW 5 77,555,482 (GRCm39) missense probably damaging 1.00
R4945:Igfbp7 UTSW 5 77,499,104 (GRCm39) missense probably benign 0.44
R4970:Igfbp7 UTSW 5 77,555,608 (GRCm39) missense possibly damaging 0.83
R7095:Igfbp7 UTSW 5 77,549,337 (GRCm39) missense probably benign 0.28
R7332:Igfbp7 UTSW 5 77,499,803 (GRCm39) missense probably damaging 1.00
R7751:Igfbp7 UTSW 5 77,499,134 (GRCm39) missense probably damaging 1.00
R8243:Igfbp7 UTSW 5 77,549,339 (GRCm39) missense probably benign 0.30
R9709:Igfbp7 UTSW 5 77,549,384 (GRCm39) missense unknown
Posted On 2016-08-02