Incidental Mutation 'R4757:Igf1'
ID 358257
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 041973-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4757 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 87694127-87772904 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87751287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 161 (E161V)
Ref Sequence ENSEMBL: ENSMUSP00000056668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062862] [ENSMUST00000095360] [ENSMUST00000105300] [ENSMUST00000121161] [ENSMUST00000121952] [ENSMUST00000122100] [ENSMUST00000122386] [ENSMUST00000126490]
AlphaFold P05017
Predicted Effect probably benign
Transcript: ENSMUST00000062862
AA Change: E161V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000056668
Gene: ENSMUSG00000020053
AA Change: E161V

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
IlGF 35 93 9.22e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095360
SMART Domains Protein: ENSMUSP00000093005
Gene: ENSMUSG00000020053

DomainStartEndE-ValueType
IlGF 51 109 9.22e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105300
SMART Domains Protein: ENSMUSP00000100937
Gene: ENSMUSG00000020053

DomainStartEndE-ValueType
IlGF 51 109 9.22e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121161
SMART Domains Protein: ENSMUSP00000114120
Gene: ENSMUSG00000020053

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
IlGF 35 93 9.22e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121952
SMART Domains Protein: ENSMUSP00000113177
Gene: ENSMUSG00000020053

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
IlGF 35 93 9.22e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122100
SMART Domains Protein: ENSMUSP00000112878
Gene: ENSMUSG00000020053

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
IlGF 35 93 9.22e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122386
SMART Domains Protein: ENSMUSP00000113905
Gene: ENSMUSG00000020053

DomainStartEndE-ValueType
IlGF 51 109 9.22e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126490
SMART Domains Protein: ENSMUSP00000122188
Gene: ENSMUSG00000020053

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
IlGF 35 93 9.22e-24 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A T 9: 53,336,830 (GRCm39) M45L probably benign Het
Abcb1a T A 5: 8,787,632 (GRCm39) V978D probably damaging Het
Acsm4 T C 7: 119,297,900 (GRCm39) V179A probably benign Het
Agtr1a C A 13: 30,565,842 (GRCm39) Y302* probably null Het
Akap9 T C 5: 4,058,382 (GRCm39) I1677T probably damaging Het
Ankk1 T A 9: 49,327,230 (GRCm39) M650L probably benign Het
Apod T A 16: 31,122,280 (GRCm39) N65Y probably damaging Het
Bcl2l1 T A 2: 152,624,178 (GRCm39) N197Y possibly damaging Het
Brpf1 A T 6: 113,292,072 (GRCm39) I373F probably damaging Het
Car13 T C 3: 14,726,615 (GRCm39) V257A probably damaging Het
Ccdc150 A T 1: 54,317,874 (GRCm39) H271L possibly damaging Het
Cit T A 5: 116,135,608 (GRCm39) I1836N probably damaging Het
Clec12b A G 6: 129,357,655 (GRCm39) S68P probably damaging Het
Col4a4 A G 1: 82,506,187 (GRCm39) F298L unknown Het
Crct1 G A 3: 92,922,093 (GRCm39) Q15* probably null Het
Creld1 A G 6: 113,469,208 (GRCm39) E346G probably benign Het
Ctnnal1 T A 4: 56,847,980 (GRCm39) H53L probably damaging Het
Cyb5d1 T C 11: 69,285,814 (GRCm39) D74G probably damaging Het
Deptor A T 15: 55,075,674 (GRCm39) S293C probably damaging Het
Dnajb12 A G 10: 59,728,592 (GRCm39) S187G probably benign Het
Duoxa2 G T 2: 122,131,072 (GRCm39) V78L possibly damaging Het
Fem1al A T 11: 29,775,454 (GRCm39) M1K probably null Het
Fhod1 C A 8: 106,074,443 (GRCm39) probably benign Het
Foxf2 C T 13: 31,810,172 (GRCm39) P37L unknown Het
Gabbr2 T C 4: 46,875,675 (GRCm39) N149S probably damaging Het
Gckr G T 5: 31,464,728 (GRCm39) M344I possibly damaging Het
Herc6 G A 6: 57,577,045 (GRCm39) probably null Het
Ighv8-13 T A 12: 115,729,268 (GRCm39) probably benign Het
Igkv6-14 A T 6: 70,412,426 (GRCm39) L12* probably null Het
Kpnb1 C T 11: 97,068,160 (GRCm39) S270N possibly damaging Het
Lingo1 A G 9: 56,527,209 (GRCm39) V460A probably benign Het
Lsm6 T C 8: 79,539,711 (GRCm39) probably null Het
Mccc1 C T 3: 36,050,066 (GRCm39) G42E probably benign Het
Mga A G 2: 119,734,120 (GRCm39) K323E possibly damaging Het
Mks1 A G 11: 87,753,850 (GRCm39) *562W probably null Het
Mrgpra4 T A 7: 47,630,686 (GRCm39) E305V probably damaging Het
Msh4 T A 3: 153,585,024 (GRCm39) H360L probably damaging Het
Mthfsd C T 8: 121,825,737 (GRCm39) probably null Het
Myl12a A T 17: 71,303,798 (GRCm39) F26L possibly damaging Het
Nedd4l A G 18: 65,298,676 (GRCm39) S343G probably damaging Het
Nlgn1 T A 3: 25,490,332 (GRCm39) D465V probably damaging Het
Nlgn1 C T 3: 25,490,507 (GRCm39) V407I possibly damaging Het
Npsr1 T C 9: 24,046,064 (GRCm39) V61A probably benign Het
Nrxn2 A G 19: 6,559,851 (GRCm39) D160G probably damaging Het
Or2p2 T C 13: 21,256,715 (GRCm39) Y252C probably damaging Het
Or52d3 T C 7: 104,229,404 (GRCm39) Y184H possibly damaging Het
Or5b107 A C 19: 13,143,277 (GRCm39) S300R probably benign Het
Or5b113 G T 19: 13,342,810 (GRCm39) A273S probably benign Het
Or9g4 A G 2: 85,504,664 (GRCm39) F277S probably damaging Het
Pbx1 C A 1: 168,023,450 (GRCm39) R235L probably damaging Het
Pcnx4 T C 12: 72,603,067 (GRCm39) V443A probably benign Het
Pde7b T C 10: 20,423,688 (GRCm39) T63A probably benign Het
Phf3 C T 1: 30,859,908 (GRCm39) G873D probably damaging Het
Phox2b A T 5: 67,256,197 (GRCm39) Y30N probably damaging Het
Plch2 T A 4: 155,080,690 (GRCm39) I599F possibly damaging Het
Plekha8 A G 6: 54,599,213 (GRCm39) E249G probably benign Het
Pou2af1 T A 9: 51,144,439 (GRCm39) Y118N possibly damaging Het
Ppp3cc T A 14: 70,455,635 (GRCm39) K489N possibly damaging Het
Sema4b T C 7: 79,866,577 (GRCm39) L219P probably damaging Het
Slc6a5 T G 7: 49,609,030 (GRCm39) V745G probably benign Het
Slf2 A G 19: 44,923,497 (GRCm39) M104V probably benign Het
Slx1b A G 7: 126,291,701 (GRCm39) V121A probably benign Het
Speer4e2 T A 5: 15,026,222 (GRCm39) H145L probably benign Het
Spen T A 4: 141,200,390 (GRCm39) K2746* probably null Het
Stxbp5l T C 16: 37,008,996 (GRCm39) Y681C probably damaging Het
Sv2b T C 7: 74,773,918 (GRCm39) T518A probably benign Het
Tgm7 A T 2: 120,926,870 (GRCm39) H426Q possibly damaging Het
Tlx2 A G 6: 83,046,900 (GRCm39) F54S probably benign Het
Trp53bp2 A T 1: 182,286,339 (GRCm39) M1060L probably benign Het
Trpv5 T A 6: 41,630,148 (GRCm39) E647D probably damaging Het
Tut1 G T 19: 8,936,672 (GRCm39) K165N possibly damaging Het
Tyro3 A G 2: 119,641,419 (GRCm39) K543E probably damaging Het
Vmn2r69 T A 7: 85,061,575 (GRCm39) Y133F probably damaging Het
Zfhx4 T A 3: 5,465,122 (GRCm39) V1785D possibly damaging Het
Zfp451 A G 1: 33,804,939 (GRCm39) L1037P probably damaging Het
Zscan29 A T 2: 120,991,392 (GRCm39) F799I 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
R1962:Igf1 UTSW 10 87,700,726 (GRCm39) missense probably damaging 1.00
R2428:Igf1 UTSW 10 87,700,683 (GRCm39) missense probably damaging 1.00
R3852:Igf1 UTSW 10 87,751,181 (GRCm39) nonsense probably null
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'- TCAAAGACCGTCTTCAGCAC -3'
(R):5'- GTGTAAGTGCCGTATCCCAGAG -3'

Sequencing Primer
(F):5'- AGACCGTCTTCAGCACAGGAG -3'
(R):5'- CCCAGAGGAGGACTTTCTTAC -3'
Posted On 2015-11-11