Incidental Mutation 'R1962:Igf1'
ID 217006
Institutional Source Beutler Lab
Gene Symbol Igf1
Ensembl Gene ENSMUSG00000020053
Gene Name insulin-like growth factor 1
Synonyms Igf-1, C730016P09Rik, Igf-I
MMRRC Submission 039976-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1962 (G1)
Quality Score 197
Status Not validated
Chromosome 10
Chromosomal Location 87694127-87772904 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87700726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 66 (C66Y)
Ref Sequence ENSEMBL: ENSMUSP00000113905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062862] [ENSMUST00000095360] [ENSMUST00000105300] [ENSMUST00000121161] [ENSMUST00000121952] [ENSMUST00000122100] [ENSMUST00000122386] [ENSMUST00000126490]
AlphaFold P05017
Predicted Effect probably damaging
Transcript: ENSMUST00000062862
AA Change: C50Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056668
Gene: ENSMUSG00000020053
AA Change: C50Y

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
IlGF 35 93 9.22e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000095360
AA Change: C66Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093005
Gene: ENSMUSG00000020053
AA Change: C66Y

DomainStartEndE-ValueType
IlGF 51 109 9.22e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105300
AA Change: C66Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100937
Gene: ENSMUSG00000020053
AA Change: C66Y

DomainStartEndE-ValueType
IlGF 51 109 9.22e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121161
AA Change: C50Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114120
Gene: ENSMUSG00000020053
AA Change: C50Y

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
IlGF 35 93 9.22e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121952
AA Change: C50Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113177
Gene: ENSMUSG00000020053
AA Change: C50Y

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
IlGF 35 93 9.22e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122100
AA Change: C50Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112878
Gene: ENSMUSG00000020053
AA Change: C50Y

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
IlGF 35 93 9.22e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122386
AA Change: C66Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113905
Gene: ENSMUSG00000020053
AA Change: C66Y

DomainStartEndE-ValueType
IlGF 51 109 9.22e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000126490
AA Change: C50Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122188
Gene: ENSMUSG00000020053
AA Change: C50Y

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
IlGF 35 93 9.22e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146581
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the insulin-like growth factor (IGF) family of proteins that promote growth and development during fetal and postnatal life. This gene is predominantly expressed in the liver and the encoded protein undergoes proteolytic processing to generate a disulfide-linked mature polypeptide. Transgenic disruption of this gene in mice results in reduced postnatal survival and severe growth retardation. Mice lacking the encoded protein exhibit generalized organ hypoplasia including underdevelopment of the central nervous system and developmental defects in bone, muscle and reproductive systems. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mutants are severely growth retarded and die perinatally with many immature organ systems. Heterozygotes and partial knockouts show genetic background effects and can display growth retardation and abnormalities in muscle, lungs, and CNS. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 119,940,468 (GRCm39) I354M probably damaging Het
Abca8a T C 11: 109,917,731 (GRCm39) probably null Het
Abca8b T C 11: 109,870,724 (GRCm39) R143G probably benign Het
Actn4 T C 7: 28,594,047 (GRCm39) D840G probably damaging Het
Agpat5 T C 8: 18,928,026 (GRCm39) L197P probably damaging Het
Akr1d1 T C 6: 37,512,983 (GRCm39) V93A probably benign Het
Arap2 T C 5: 62,834,007 (GRCm39) K820R possibly damaging Het
Armc9 T A 1: 86,135,696 (GRCm39) C551S probably damaging Het
Atg7 T C 6: 114,683,191 (GRCm39) L418P probably damaging Het
Awat2 G A X: 99,448,165 (GRCm39) P148S probably damaging Het
Brms1 C T 19: 5,096,027 (GRCm39) R34W probably damaging Het
Cbx2 A G 11: 118,919,395 (GRCm39) Q320R possibly damaging Het
Ccdc106 G A 7: 5,062,539 (GRCm39) D11N possibly damaging Het
Ccdc30 C T 4: 119,196,988 (GRCm39) R426Q probably benign Het
Cdc42bpg T A 19: 6,356,885 (GRCm39) V47E probably damaging Het
Cep170b C T 12: 112,704,495 (GRCm39) S751L probably damaging Het
Cfap46 A T 7: 139,246,957 (GRCm39) L328Q probably damaging Het
Crtc3 A G 7: 80,239,679 (GRCm39) F558L probably damaging Het
Cyp2d34 A G 15: 82,502,809 (GRCm39) V139A probably benign Het
Dchs1 A G 7: 105,413,408 (GRCm39) Y1136H probably damaging Het
Dhrs4 T C 14: 55,725,060 (GRCm39) V185A probably damaging Het
Dnah7b A G 1: 46,281,263 (GRCm39) K2775E possibly damaging Het
Dst C A 1: 34,230,097 (GRCm39) S2238R possibly damaging Het
Duox2 T C 2: 122,127,853 (GRCm39) probably null Het
Dusp16 G T 6: 134,695,099 (GRCm39) Y577* probably null Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Eml5 A G 12: 98,842,570 (GRCm39) F176S probably damaging Het
Esco2 C A 14: 66,068,982 (GRCm39) R109S probably damaging Het
Galnt7 C T 8: 57,985,748 (GRCm39) E541K probably benign Het
Gbf1 C T 19: 46,255,658 (GRCm39) T707I probably damaging Het
Gdf5 A G 2: 155,783,672 (GRCm39) C427R probably damaging Het
Glyctk T C 9: 106,035,064 (GRCm39) M1V probably null Het
Gm5478 T C 15: 101,552,830 (GRCm39) E367G probably damaging Het
Golga7b G A 19: 42,251,768 (GRCm39) V5I probably benign Het
Gpt2 T C 8: 86,219,764 (GRCm39) L70P probably damaging Het
Gsdmc3 C A 15: 63,730,315 (GRCm39) Q416H probably damaging Het
Hoxb5 A G 11: 96,194,918 (GRCm39) E160G probably benign Het
Ift81 A T 5: 122,698,772 (GRCm39) Y532N probably benign Het
Igf1r T C 7: 67,857,023 (GRCm39) V995A probably damaging Het
Ip6k1 T C 9: 107,918,287 (GRCm39) probably null Het
Jaml T C 9: 45,015,495 (GRCm39) I333T possibly damaging Het
Kdm4c T C 4: 74,225,253 (GRCm39) probably benign Het
Kdm6b T C 11: 69,292,191 (GRCm39) probably benign Het
Krt6a C T 15: 101,599,900 (GRCm39) R404H probably damaging Het
Larp4b C A 13: 9,186,878 (GRCm39) H69N probably benign Het
Lcat A T 8: 106,668,355 (GRCm39) W222R probably damaging Het
Lrrc40 T A 3: 157,746,086 (GRCm39) C54S probably benign Het
Mcpt9 T A 14: 56,265,024 (GRCm39) H159L probably benign Het
Megf8 T C 7: 25,062,976 (GRCm39) V2444A probably damaging Het
Memo1 T C 17: 74,552,003 (GRCm39) T98A possibly damaging Het
Mical2 A T 7: 112,012,051 (GRCm39) I634L probably benign Het
Mov10 C T 3: 104,704,293 (GRCm39) R835Q probably damaging Het
Mybpc1 A T 10: 88,384,688 (GRCm39) L546Q probably damaging Het
Myo6 T C 9: 80,168,117 (GRCm39) V427A probably damaging Het
Myom2 T A 8: 15,182,599 (GRCm39) probably null Het
Mzt2 G A 16: 15,666,543 (GRCm39) R125C probably damaging Het
Neb T A 2: 52,162,949 (GRCm39) R2031* probably null Het
Nphp3 T C 9: 103,898,537 (GRCm39) S447P probably benign Het
Nrp2 T A 1: 62,758,090 (GRCm39) D25E probably benign Het
Nts A G 10: 102,320,918 (GRCm39) L57S probably damaging Het
Nudt9 G A 5: 104,212,971 (GRCm39) R348H probably benign Het
Or10d5j T C 9: 39,867,979 (GRCm39) Y84C probably benign Het
Or13a1 C T 6: 116,470,725 (GRCm39) P52S probably benign Het
Or3a1b C A 11: 74,012,650 (GRCm39) D178E probably benign Het
Or4k49 T C 2: 111,495,234 (GRCm39) I221T probably damaging Het
Or5ac16 T A 16: 59,022,271 (GRCm39) I173F possibly damaging Het
Pafah1b1 T C 11: 74,590,177 (GRCm39) probably benign Het
Piezo2 C A 18: 63,211,911 (GRCm39) M1291I probably damaging Het
Pik3ca T C 3: 32,498,016 (GRCm39) F486S probably benign Het
Podnl1 C T 8: 84,853,926 (GRCm39) H99Y probably benign Het
Prdm6 A T 18: 53,701,233 (GRCm39) Y341F probably damaging Het
Prr5l C T 2: 101,588,854 (GRCm39) probably null Het
Psmd4 G T 3: 94,944,012 (GRCm39) T24N possibly damaging Het
Rbbp8nl G A 2: 179,922,667 (GRCm39) T242M probably benign Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Rsf1 GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,113 (GRCm39) probably benign Het
Scfd1 T C 12: 51,469,769 (GRCm39) V438A probably benign Het
Scn9a A G 2: 66,314,655 (GRCm39) C1677R probably damaging Het
Sgsm2 T A 11: 74,782,854 (GRCm39) H34L probably damaging Het
Shank1 T A 7: 43,993,747 (GRCm39) probably null Het
Smarca2 G T 19: 26,650,124 (GRCm39) E24* probably null Het
Sncaip C T 18: 53,004,434 (GRCm39) H354Y probably damaging Het
St8sia2 T A 7: 73,593,057 (GRCm39) D333V probably damaging Het
Stxbp2 C A 8: 3,692,672 (GRCm39) R575S probably benign Het
Syt9 T A 7: 107,024,314 (GRCm39) V69D probably damaging Het
Tanc2 A G 11: 105,689,558 (GRCm39) N240S probably benign Het
Tcl1b1 T C 12: 105,130,727 (GRCm39) L70S probably benign Het
Tmem44 C T 16: 30,362,219 (GRCm39) probably null Het
Tor1b A G 2: 30,846,931 (GRCm39) R293G probably benign Het
Trim29 T C 9: 43,222,615 (GRCm39) V148A probably benign Het
Trmt10b C A 4: 45,314,378 (GRCm39) Y271* probably null Het
Ubqln5 A T 7: 103,778,095 (GRCm39) V243E possibly damaging Het
Ubqln5 T C 7: 103,778,134 (GRCm39) D230G probably damaging Het
Ugt2b37 A G 5: 87,402,193 (GRCm39) F146S probably damaging Het
Vmn1r160 T A 7: 22,570,827 (GRCm39) V60E probably damaging Het
Vmn2r109 T A 17: 20,774,185 (GRCm39) D390V probably damaging Het
Vmn2r27 C T 6: 124,200,793 (GRCm39) R388Q possibly damaging Het
Vmn2r72 A T 7: 85,398,369 (GRCm39) V537D probably benign Het
Vmn2r84 A G 10: 130,226,591 (GRCm39) S416P probably damaging Het
Vmn2r98 C A 17: 19,285,595 (GRCm39) Y138* probably null Het
Vmn2r-ps158 T C 7: 42,696,824 (GRCm39) V620A probably benign Het
Xrra1 A C 7: 99,560,227 (GRCm39) E401A probably damaging Het
Zfp280d T A 9: 72,242,362 (GRCm39) C688* probably null Het
Zfp3 T A 11: 70,662,954 (GRCm39) Y304* probably null Het
Zfp407 A T 18: 84,577,461 (GRCm39) D1217E probably benign Het
Zfp658 T C 7: 43,223,245 (GRCm39) Y507H possibly damaging Het
Zfyve16 T C 13: 92,659,252 (GRCm39) T220A possibly damaging Het
Zmym4 C G 4: 126,796,463 (GRCm39) K820N possibly damaging Het
Other mutations in Igf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02485:Igf1 APN 10 87,700,608 (GRCm39) missense probably benign
IGL03171:Igf1 APN 10 87,700,683 (GRCm39) missense probably damaging 1.00
R1850:Igf1 UTSW 10 87,697,236 (GRCm39) missense possibly damaging 0.47
R2428:Igf1 UTSW 10 87,700,683 (GRCm39) missense probably damaging 1.00
R3852:Igf1 UTSW 10 87,751,181 (GRCm39) nonsense probably null
R4757:Igf1 UTSW 10 87,751,287 (GRCm39) missense probably benign 0.01
R6893:Igf1 UTSW 10 87,700,722 (GRCm39) missense probably damaging 1.00
R6954:Igf1 UTSW 10 87,700,722 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGACCCAGAAGGATACCTG -3'
(R):5'- ATGCCCCACTGAAGTGTTATGC -3'

Sequencing Primer
(F):5'- CAGAAGGATACCTGAACCTCC -3'
(R):5'- TGCATACATTAAGGTGATGGATATGG -3'
Posted On 2014-08-01