Incidental Mutation 'R2021:Hgf'
ID 223969
Institutional Source Beutler Lab
Gene Symbol Hgf
Ensembl Gene ENSMUSG00000028864
Gene Name hepatocyte growth factor
Synonyms C230052L06Rik, scatter factor, SF/HGF, NK2, HGF/SF, NK1
MMRRC Submission 040030-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2021 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 16758493-16825150 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 16781919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 214 (T214I)
Ref Sequence ENSEMBL: ENSMUSP00000143424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030683] [ENSMUST00000196645] [ENSMUST00000199581]
AlphaFold Q08048
Predicted Effect probably benign
Transcript: ENSMUST00000030683
AA Change: T214I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030683
Gene: ENSMUSG00000028864
AA Change: T214I

DomainStartEndE-ValueType
low complexity region 7 25 N/A INTRINSIC
PAN_AP 38 123 6.47e-13 SMART
KR 127 209 3.03e-46 SMART
KR 210 291 9.04e-45 SMART
KR 304 386 7.35e-45 SMART
KR 390 472 1.02e-38 SMART
Tryp_SPc 495 719 5.6e-55 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195957
Predicted Effect probably benign
Transcript: ENSMUST00000196645
AA Change: T209I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142517
Gene: ENSMUSG00000028864
AA Change: T209I

DomainStartEndE-ValueType
low complexity region 7 25 N/A INTRINSIC
PAN_AP 38 123 6.47e-13 SMART
KR 127 204 3.76e-42 SMART
KR 205 286 9.04e-45 SMART
KR 299 381 7.35e-45 SMART
KR 385 467 1.02e-38 SMART
Tryp_SPc 490 714 5.6e-55 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196810
Predicted Effect probably benign
Transcript: ENSMUST00000199581
AA Change: T214I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143424
Gene: ENSMUSG00000028864
AA Change: T214I

DomainStartEndE-ValueType
low complexity region 7 25 N/A INTRINSIC
PAN_AP 38 123 6.47e-13 SMART
KR 127 209 3.03e-46 SMART
KR 210 291 9.04e-45 SMART
KR 304 386 7.35e-45 SMART
KR 390 472 1.02e-38 SMART
Tryp_SPc 495 719 5.6e-55 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that binds to the hepatocyte growth factor receptor to regulate cell growth, cell motility and morphogenesis in numerous cell and tissue types. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the hepatocyte growth factor alpha and beta chains, which heterodimerize to form the mature active protein. Although this protein is a member of the peptidase S1 family of serine proteases, it lacks peptidase activity. Homozygous knockout mice for this gene exhibit embryonic lethality due to impaired development of the placenta and liver. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced embryonic livers, impaired migration of dermomyotome precursors affecting skeletal muscle formation, defective navigation of hypoglossal motor axons, abnormal placentas, and prenatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,035,450 (GRCm39) S316T probably damaging Het
Alox8 C T 11: 69,077,114 (GRCm39) V460I probably damaging Het
Aoc1l2 T C 6: 48,908,385 (GRCm39) S462P probably damaging Het
Arvcf G A 16: 18,218,482 (GRCm39) A491T probably damaging Het
Asnsd1 A G 1: 53,386,386 (GRCm39) S414P possibly damaging Het
Btbd7 A G 12: 102,756,968 (GRCm39) L706P probably damaging Het
Camk2d T A 3: 126,574,105 (GRCm39) W171R probably damaging Het
Casc3 T A 11: 98,712,332 (GRCm39) S124T probably benign Het
Casp8ap2 T C 4: 32,644,560 (GRCm39) V1211A probably benign Het
Ccdc182 T C 11: 88,184,962 (GRCm39) V14A possibly damaging Het
Ccdc80 A T 16: 44,943,275 (GRCm39) Q795L probably damaging Het
Ccdc88a T G 11: 29,453,480 (GRCm39) S1614R probably damaging Het
Cemip2 G A 19: 21,822,114 (GRCm39) A1170T possibly damaging Het
Clcn6 A G 4: 148,095,109 (GRCm39) probably null Het
Cubn A G 2: 13,313,360 (GRCm39) V3070A probably benign Het
Dst G A 1: 34,205,372 (GRCm39) V1025I possibly damaging Het
Dynlt4 A G 4: 116,985,504 (GRCm39) E109G possibly damaging Het
Elk3 T A 10: 93,101,539 (GRCm39) I71F probably damaging Het
Flt3 A T 5: 147,306,300 (GRCm39) I276N probably damaging Het
Frem1 G T 4: 82,831,795 (GRCm39) T1988K probably benign Het
Golph3l T A 3: 95,524,668 (GRCm39) D306E probably benign Het
Grk2 T A 19: 4,340,698 (GRCm39) I254F probably damaging Het
Hoxc5 C A 15: 102,922,814 (GRCm39) probably null Het
Hsd11b1 T C 1: 192,922,686 (GRCm39) T124A probably benign Het
Ipp A G 4: 116,372,565 (GRCm39) Y198C probably benign Het
Ism1 T A 2: 139,582,047 (GRCm39) probably null Het
Klhl42 A G 6: 146,993,394 (GRCm39) Y122C possibly damaging Het
Klk1b21 A T 7: 43,755,418 (GRCm39) K206* probably null Het
Lcn11 A G 2: 25,668,097 (GRCm39) K85R probably benign Het
Macf1 G T 4: 123,366,523 (GRCm39) A2746E probably damaging Het
Matn4 A G 2: 164,242,573 (GRCm39) V175A probably damaging Het
Myh2 A T 11: 67,082,545 (GRCm39) N1372Y probably damaging Het
Ncl A G 1: 86,284,677 (GRCm39) probably null Het
Nudt2 A G 4: 41,480,255 (GRCm39) D46G probably damaging Het
Obscn C T 11: 58,958,000 (GRCm39) D3567N probably benign Het
Or1j17 G C 2: 36,578,487 (GRCm39) V158L probably benign Het
Or2z9 G T 8: 72,853,930 (GRCm39) V109F possibly damaging Het
Or4a72 A T 2: 89,405,305 (GRCm39) M255K possibly damaging Het
Pamr1 T A 2: 102,464,880 (GRCm39) M343K probably benign Het
Pcdh15 T G 10: 74,467,025 (GRCm39) S1684A possibly damaging Het
Ppm1h T A 10: 122,714,433 (GRCm39) L324* probably null Het
Ppp3r2 T C 4: 49,681,723 (GRCm39) I76V probably benign Het
Prkdc G A 16: 15,494,873 (GRCm39) V748I probably benign Het
Prss47 A G 13: 65,199,591 (GRCm39) V96A probably benign Het
Rsbn1 C T 3: 103,821,789 (GRCm39) T8I probably benign Het
Rsf1 GGCG GGCGACGGCGGCG 7: 97,229,113 (GRCm39) probably benign Het
Serpinb3d A G 1: 107,006,182 (GRCm39) V302A probably benign Het
Sfrp4 A T 13: 19,816,496 (GRCm39) I177F probably benign Het
Sh3bp2 A G 5: 34,701,569 (GRCm39) probably benign Het
Slc7a12 A G 3: 14,562,393 (GRCm39) T257A probably damaging Het
Spata31e5 A T 1: 28,817,234 (GRCm39) V266D probably damaging Het
Specc1l T C 10: 75,103,425 (GRCm39) probably null Het
Stard9 A G 2: 120,534,716 (GRCm39) T3658A probably benign Het
Styxl2 A T 1: 165,928,392 (GRCm39) W407R probably benign Het
Tmem30c T C 16: 57,101,725 (GRCm39) T68A probably damaging Het
Tnr A G 1: 159,679,592 (GRCm39) I189V probably benign Het
Trrap A G 5: 144,790,298 (GRCm39) N3586S possibly damaging Het
Usp14 T C 18: 10,024,632 (GRCm39) T22A probably damaging Het
Vmn1r68 A G 7: 10,261,918 (GRCm39) L60P probably damaging Het
Vmn2r108 G A 17: 20,691,252 (GRCm39) H424Y probably benign Het
Wdr81 C A 11: 75,336,788 (GRCm39) E1534* probably null Het
Zc3h13 A G 14: 75,567,635 (GRCm39) E976G probably damaging Het
Zfp128 T C 7: 12,623,956 (GRCm39) L108P possibly damaging Het
Zfp644 T C 5: 106,783,548 (GRCm39) I1000V possibly damaging Het
Other mutations in Hgf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Hgf APN 5 16,816,880 (GRCm39) missense possibly damaging 0.70
IGL00427:Hgf APN 5 16,783,484 (GRCm39) missense probably benign 0.09
IGL00788:Hgf APN 5 16,803,228 (GRCm39) missense probably damaging 0.99
IGL01290:Hgf APN 5 16,809,844 (GRCm39) missense probably damaging 1.00
IGL01333:Hgf APN 5 16,781,939 (GRCm39) nonsense probably null
IGL01568:Hgf APN 5 16,769,812 (GRCm39) missense probably damaging 1.00
IGL02314:Hgf APN 5 16,777,600 (GRCm39) missense probably damaging 0.99
IGL02328:Hgf APN 5 16,803,219 (GRCm39) missense probably damaging 1.00
IGL02368:Hgf APN 5 16,769,792 (GRCm39) missense possibly damaging 0.95
IGL02486:Hgf APN 5 16,807,287 (GRCm39) missense probably damaging 1.00
IGL02654:Hgf APN 5 16,766,049 (GRCm39) missense probably benign
Foiegras UTSW 5 16,820,800 (GRCm39) missense probably benign 0.01
PIT4378001:Hgf UTSW 5 16,816,860 (GRCm39) missense probably damaging 1.00
R0708:Hgf UTSW 5 16,771,761 (GRCm39) nonsense probably null
R0710:Hgf UTSW 5 16,771,761 (GRCm39) nonsense probably null
R0718:Hgf UTSW 5 16,798,857 (GRCm39) missense probably damaging 1.00
R0967:Hgf UTSW 5 16,798,839 (GRCm39) splice site probably benign
R1181:Hgf UTSW 5 16,823,923 (GRCm39) missense probably damaging 1.00
R1589:Hgf UTSW 5 16,818,783 (GRCm39) missense probably damaging 1.00
R1705:Hgf UTSW 5 16,820,800 (GRCm39) missense probably benign 0.01
R1983:Hgf UTSW 5 16,766,010 (GRCm39) missense possibly damaging 0.53
R2441:Hgf UTSW 5 16,809,788 (GRCm39) missense probably damaging 0.99
R4083:Hgf UTSW 5 16,820,856 (GRCm39) nonsense probably null
R4084:Hgf UTSW 5 16,820,856 (GRCm39) nonsense probably null
R4211:Hgf UTSW 5 16,819,991 (GRCm39) missense probably damaging 0.99
R4388:Hgf UTSW 5 16,819,941 (GRCm39) missense probably benign 0.12
R4394:Hgf UTSW 5 16,823,949 (GRCm39) nonsense probably null
R4575:Hgf UTSW 5 16,777,599 (GRCm39) missense probably benign
R5044:Hgf UTSW 5 16,819,892 (GRCm39) missense probably benign 0.00
R5319:Hgf UTSW 5 16,771,860 (GRCm39) critical splice donor site probably null
R5585:Hgf UTSW 5 16,769,799 (GRCm39) missense possibly damaging 0.93
R5700:Hgf UTSW 5 16,815,122 (GRCm39) missense probably damaging 1.00
R5814:Hgf UTSW 5 16,807,305 (GRCm39) missense probably benign 0.19
R6125:Hgf UTSW 5 16,803,159 (GRCm39) missense probably damaging 1.00
R6749:Hgf UTSW 5 16,818,640 (GRCm39) splice site probably null
R6891:Hgf UTSW 5 16,809,920 (GRCm39) critical splice donor site probably null
R6962:Hgf UTSW 5 16,820,752 (GRCm39) missense probably benign 0.32
R7251:Hgf UTSW 5 16,798,942 (GRCm39) missense possibly damaging 0.95
R7296:Hgf UTSW 5 16,769,841 (GRCm39) missense probably benign 0.39
R7463:Hgf UTSW 5 16,783,448 (GRCm39) missense probably benign 0.00
R7470:Hgf UTSW 5 16,823,854 (GRCm39) missense probably benign 0.02
R7630:Hgf UTSW 5 16,803,248 (GRCm39) missense probably benign 0.01
R7807:Hgf UTSW 5 16,782,009 (GRCm39) missense probably damaging 0.99
R8098:Hgf UTSW 5 16,766,059 (GRCm39) missense probably benign 0.04
R8120:Hgf UTSW 5 16,818,779 (GRCm39) missense probably damaging 1.00
R8132:Hgf UTSW 5 16,807,329 (GRCm39) missense probably damaging 1.00
R8499:Hgf UTSW 5 16,771,854 (GRCm39) missense probably damaging 0.99
R8929:Hgf UTSW 5 16,798,988 (GRCm39) missense probably benign 0.44
R9016:Hgf UTSW 5 16,823,956 (GRCm39) missense probably damaging 1.00
R9126:Hgf UTSW 5 16,765,979 (GRCm39) missense possibly damaging 0.95
R9197:Hgf UTSW 5 16,766,059 (GRCm39) missense probably benign 0.04
R9347:Hgf UTSW 5 16,809,921 (GRCm39) critical splice donor site probably null
R9478:Hgf UTSW 5 16,766,029 (GRCm39) missense possibly damaging 0.70
R9696:Hgf UTSW 5 16,777,534 (GRCm39) missense probably damaging 1.00
R9729:Hgf UTSW 5 16,766,029 (GRCm39) missense probably damaging 0.97
R9732:Hgf UTSW 5 16,820,748 (GRCm39) missense probably damaging 1.00
X0024:Hgf UTSW 5 16,809,826 (GRCm39) missense probably damaging 1.00
Z1088:Hgf UTSW 5 16,823,917 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTATGCTAAATCTGTATGGCAC -3'
(R):5'- TGTTACAGAATGAACAGCAGTTGG -3'

Sequencing Primer
(F):5'- TGGTATATACGGCTGTATGA -3'
(R):5'- CAGTTGGTGAAGAAAGAGATCTATG -3'
Posted On 2014-08-25