Incidental Mutation 'IGL02964:Igfbp7'
ID 365490
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 # IGL02964
Quality Score
Status
Chromosome 5
Chromosomal Location 77497092-77555892 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 77499188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 239 (S239N)
Ref Sequence ENSEMBL: ENSMUSP00000045057 (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 possibly damaging
Transcript: ENSMUST00000046746
AA Change: S239N

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000045057
Gene: ENSMUSG00000036256
AA Change: S239N

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 possibly damaging
Transcript: ENSMUST00000163898
AA Change: S270N

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128318
Gene: ENSMUSG00000036256
AA Change: S270N

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,242,636 (GRCm39) I1364V possibly damaging Het
Adamts19 T A 18: 59,122,037 (GRCm39) I813K probably damaging Het
Adamtsl1 G T 4: 86,342,594 (GRCm39) C1703F probably damaging Het
Atp2b4 T A 1: 133,658,303 (GRCm39) T536S probably damaging Het
Capg T A 6: 72,539,827 (GRCm39) I340N probably damaging Het
Casc3 T A 11: 98,719,749 (GRCm39) M567K probably damaging Het
Chmp1a T C 8: 123,934,806 (GRCm39) E50G probably damaging Het
Cryba1 T C 11: 77,610,207 (GRCm39) probably benign Het
Dnah8 T A 17: 30,965,735 (GRCm39) Y2356N probably damaging Het
Ercc6 T G 14: 32,292,060 (GRCm39) S1141R probably benign Het
Exd2 T A 12: 80,527,302 (GRCm39) V165D probably damaging Het
Fbln1 A T 15: 85,115,663 (GRCm39) E233V probably damaging Het
Ftsj3 T C 11: 106,143,163 (GRCm39) K384E probably damaging Het
Ggt5 A G 10: 75,439,962 (GRCm39) I188V probably benign Het
Gm42742 A T 7: 126,616,018 (GRCm39) S26T probably damaging Het
Gucy1a2 T A 9: 3,759,542 (GRCm39) D449E probably damaging Het
Klf11 C T 12: 24,705,626 (GRCm39) A360V probably damaging Het
Kmt2e T A 5: 23,672,098 (GRCm39) probably benign Het
Magea8 A T X: 153,769,678 (GRCm39) C144S probably damaging Het
Med4 A G 14: 73,755,361 (GRCm39) Q223R probably damaging Het
Mmd2 G T 5: 142,555,232 (GRCm39) F153L probably damaging Het
Nav3 C A 10: 109,572,814 (GRCm39) R1615L probably damaging Het
Nisch A G 14: 30,902,769 (GRCm39) probably benign Het
Nr1i3 A T 1: 171,041,964 (GRCm39) Y16F probably benign Het
Or5w1 C A 2: 87,487,058 (GRCm39) C69F probably damaging Het
Or7e169 G A 9: 19,757,550 (GRCm39) R122* probably null Het
Or7g16 A G 9: 18,727,024 (GRCm39) C189R probably damaging Het
Or8g34 A G 9: 39,373,077 (GRCm39) T117A possibly damaging Het
Ppil6 C A 10: 41,383,479 (GRCm39) H252N probably benign Het
Ppp6r2 C T 15: 89,143,378 (GRCm39) P175L probably damaging Het
Psme4 T A 11: 30,741,095 (GRCm39) Y90* probably null Het
Rbm20 C A 19: 53,802,133 (GRCm39) L214I probably benign Het
Rhox2f T C X: 36,753,334 (GRCm39) V24A probably benign Het
Scnm1 T C 3: 95,040,348 (GRCm39) K96E probably benign Het
Sec16a A C 2: 26,309,735 (GRCm39) D2090E probably benign Het
Smg6 T C 11: 74,821,576 (GRCm39) probably null Het
Snx2 T C 18: 53,327,630 (GRCm39) S119P probably benign Het
Stam A G 2: 14,120,779 (GRCm39) probably benign Het
Sult2b1 T A 7: 45,384,698 (GRCm39) E126V probably benign Het
Tor1aip1 T C 1: 155,911,590 (GRCm39) E131G probably damaging Het
Ttn C T 2: 76,619,040 (GRCm39) C14367Y probably damaging Het
Ubr4 T C 4: 139,135,131 (GRCm39) F821S possibly damaging Het
Vmn1r32 T C 6: 66,529,922 (GRCm39) N285D probably benign Het
Vmn2r23 T C 6: 123,718,741 (GRCm39) L698P possibly damaging Het
Wnt8a T A 18: 34,675,474 (GRCm39) L18Q possibly damaging Het
Zfp747 T C 7: 126,973,666 (GRCm39) E168G probably benign 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
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 2015-12-18