Incidental Mutation 'IGL01323:Igfbp7'
ID 74146
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 # IGL01323
Quality Score
Status
Chromosome 5
Chromosomal Location 77497092-77555892 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 77499884 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 A G 2: 166,713,415 (GRCm39) D1272G probably damaging Het
Ascl2 A G 7: 142,522,125 (GRCm39) S108P probably benign Het
B3gat1 T C 9: 26,667,206 (GRCm39) V146A possibly damaging Het
Barhl1 C T 2: 28,805,558 (GRCm39) S45N probably benign Het
Birc6 C T 17: 74,929,920 (GRCm39) A2370V probably damaging Het
C1qtnf7 A G 5: 43,766,602 (GRCm39) D67G possibly damaging Het
Cand2 A G 6: 115,762,086 (GRCm39) T171A probably benign Het
Ccdc77 T C 6: 120,311,757 (GRCm39) Q247R probably benign Het
Cenpp A T 13: 49,801,118 (GRCm39) V100D probably damaging Het
Cep135 A G 5: 76,739,612 (GRCm39) T3A probably benign Het
Eef2k T C 7: 120,484,038 (GRCm39) probably benign Het
Fga T C 3: 82,937,518 (GRCm39) S132P probably damaging Het
Gpr6 T A 10: 40,947,555 (GRCm39) N9I possibly damaging Het
Gvin2 A G 7: 105,546,009 (GRCm39) S2348P possibly damaging Het
Hacd3 A G 9: 64,905,587 (GRCm39) F184L probably damaging Het
Heatr1 T C 13: 12,413,819 (GRCm39) I132T possibly damaging Het
Ighv8-6 T C 12: 115,129,477 (GRCm39) D93G possibly damaging Het
Izumo3 A G 4: 92,034,627 (GRCm39) probably benign Het
Jade2 T C 11: 51,716,165 (GRCm39) T347A possibly damaging Het
Kif18a A G 2: 109,128,787 (GRCm39) T419A probably benign Het
Krt34 A G 11: 99,929,606 (GRCm39) S267P possibly damaging Het
Krt4 T G 15: 101,828,716 (GRCm39) K383Q probably damaging Het
Lgals7 G T 7: 28,564,989 (GRCm39) E42D probably benign Het
Morc2b A G 17: 33,356,293 (GRCm39) V493A possibly damaging Het
Mtif2 T A 11: 29,491,447 (GRCm39) S557R probably damaging Het
Nup43 T A 10: 7,545,320 (GRCm39) F83I probably benign Het
Oosp2 A G 19: 11,624,825 (GRCm39) L155S probably damaging Het
Or1o1 G T 17: 37,717,031 (GRCm39) M197I probably benign Het
Plxnd1 T A 6: 115,943,760 (GRCm39) T1180S possibly damaging Het
Prpf39 T A 12: 65,089,498 (GRCm39) F79I possibly damaging Het
Prph G A 15: 98,956,517 (GRCm39) S465N possibly damaging Het
Purg A T 8: 33,876,631 (GRCm39) I90L probably damaging Het
Pxdn C A 12: 30,037,136 (GRCm39) Q305K probably benign Het
R3hdm1 G A 1: 128,144,280 (GRCm39) S816N probably benign Het
Src G A 2: 157,311,423 (GRCm39) G461R probably damaging Het
Tmem201 G A 4: 149,804,045 (GRCm39) probably benign Het
Tnfrsf22 G A 7: 143,197,111 (GRCm39) P76L probably damaging Het
Triml1 T C 8: 43,591,600 (GRCm39) probably null Het
Upp1 A G 11: 9,086,100 (GRCm39) *312W probably null Het
Wdfy3 G T 5: 102,042,930 (GRCm39) S1940R probably damaging Het
Xpc T C 6: 91,469,335 (GRCm39) Y804C probably damaging Het
Xrn2 C T 2: 146,876,767 (GRCm39) probably benign Het
Zfp106 A T 2: 120,354,945 (GRCm39) D1275E possibly damaging Het
Other mutations in Igfbp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03223:Igfbp7 APN 5 77,497,318 (GRCm39) utr 3 prime probably benign
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 2013-10-07