Incidental Mutation 'R9478:Hgf'
ID 715922
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9478 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 16758493-16825150 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16766029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 55 (D55G)
Ref Sequence ENSEMBL: ENSMUSP00000030683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030683] [ENSMUST00000196645] [ENSMUST00000199581]
AlphaFold Q08048
PDB Structure A Mechanistic Basis for Converting a Receptor Tyrosine Kinase Agonist to an Antagonist [X-RAY DIFFRACTION]
Crystal structure of the N-terminal fragment (31-127) of the mouse hepatocyte growth factor/scatter factor [X-RAY DIFFRACTION]
Crystal Structure of the NK2 Fragment (31-290) of the mouse Hepatocyte Growth Factor/Scatter Factor [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030683
AA Change: D55G

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030683
Gene: ENSMUSG00000028864
AA Change: D55G

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 possibly damaging
Transcript: ENSMUST00000196645
AA Change: D55G

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142517
Gene: ENSMUSG00000028864
AA Change: D55G

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 possibly damaging
Transcript: ENSMUST00000199581
AA Change: D55G

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143424
Gene: ENSMUSG00000028864
AA Change: D55G

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,451,573 (GRCm39) I886F possibly damaging Het
3100002H09Rik A G 4: 124,504,151 (GRCm39) S134P unknown Het
Abcf2 A G 5: 24,770,940 (GRCm39) L604P possibly damaging Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Atg14 G T 14: 47,783,138 (GRCm39) H373Q probably damaging Het
Atmin C T 8: 117,681,537 (GRCm39) H179Y probably damaging Het
Catsperg1 G T 7: 28,897,777 (GRCm39) P197T possibly damaging Het
Ccdc7b C T 8: 129,837,473 (GRCm39) Q155* probably null Het
Cep85l T G 10: 53,224,875 (GRCm39) E238A possibly damaging Het
Cfap119 T C 7: 127,184,087 (GRCm39) probably null Het
Cntln G A 4: 84,897,630 (GRCm39) V406I probably benign Het
Csf2rb2 C A 15: 78,168,965 (GRCm39) G730V probably benign Het
Cyp3a59 T A 5: 146,034,997 (GRCm39) L225Q probably damaging Het
Dock1 T A 7: 134,367,962 (GRCm39) F511I probably damaging Het
Dsg1b A T 18: 20,531,008 (GRCm39) Y453F Het
Dync1h1 T C 12: 110,625,137 (GRCm39) F3829L probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Esco2 C A 14: 66,068,657 (GRCm39) G218* probably null Het
Gale C T 4: 135,692,574 (GRCm39) probably benign Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Il17ra A G 6: 120,451,336 (GRCm39) D170G possibly damaging Het
Inha A G 1: 75,486,562 (GRCm39) S286G probably benign Het
Kif1b C T 4: 149,345,616 (GRCm39) probably null Het
Klhl24 T G 16: 19,941,763 (GRCm39) S570R possibly damaging Het
Krt87 G A 15: 101,385,449 (GRCm39) R308W probably benign Het
Lama2 T A 10: 26,891,478 (GRCm39) E2545V probably damaging Het
Lztfl1 T C 9: 123,537,167 (GRCm39) K165E possibly damaging Het
Mab21l3 A T 3: 101,725,987 (GRCm39) D336E probably damaging Het
Matn2 T C 15: 34,345,242 (GRCm39) I83T probably damaging Het
Mfsd9 T C 1: 40,812,941 (GRCm39) D458G probably benign Het
Ncbp3 A G 11: 72,968,768 (GRCm39) D513G probably damaging Het
Neb T A 2: 52,078,788 (GRCm39) K5818N probably benign Het
Nol4 G A 18: 23,053,934 (GRCm39) P120S probably damaging Het
Oit3 C A 10: 59,274,464 (GRCm39) C112F probably damaging Het
Or11g27 A T 14: 50,771,051 (GRCm39) T61S probably benign Het
Or4b1 C A 2: 89,979,595 (GRCm39) A252S possibly damaging Het
Or5p52 G A 7: 107,502,238 (GRCm39) V105M probably damaging Het
Or6c6 T A 10: 129,186,960 (GRCm39) M176K possibly damaging Het
Pank4 G A 4: 155,064,565 (GRCm39) R708Q probably benign Het
Plch1 T A 3: 63,606,825 (GRCm39) L1026F probably benign Het
Poglut3 T C 9: 53,303,236 (GRCm39) F232L probably damaging Het
Ptpn3 A T 4: 57,197,573 (GRCm39) I772N probably damaging Het
Purb A G 11: 6,425,424 (GRCm39) F155L probably damaging Het
Rcor2 C T 19: 7,248,794 (GRCm39) R256W probably damaging Het
Rp1 A G 1: 4,417,545 (GRCm39) L1189P probably benign Het
Scn1a T C 2: 66,156,493 (GRCm39) E472G probably benign Het
Sema3e T C 5: 14,286,386 (GRCm39) Y536H probably damaging Het
Serpina3n A T 12: 104,378,672 (GRCm39) I331F possibly damaging Het
Sertad3 T C 7: 27,175,679 (GRCm39) S38P probably damaging Het
Sfrp4 G T 13: 19,807,610 (GRCm39) R3L unknown Het
Slc35a5 T C 16: 44,964,426 (GRCm39) E269G probably damaging Het
Snrnp200 G A 2: 127,076,993 (GRCm39) probably null Het
Sumo1 A G 1: 59,694,615 (GRCm39) probably null Het
Syne2 A G 12: 76,154,387 (GRCm39) K2020E probably damaging Het
Tcp10a A T 17: 7,601,740 (GRCm39) T247S probably benign Het
Tgds T C 14: 118,352,544 (GRCm39) D290G possibly damaging Het
Trav7d-3 A T 14: 52,982,054 (GRCm39) I32F possibly damaging Het
Vps41 A G 13: 19,046,913 (GRCm39) N788D Het
Zfp521 G A 18: 13,950,372 (GRCm39) T1194I probably damaging Het
Zmynd8 C A 2: 165,649,569 (GRCm39) K841N probably 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
R2021:Hgf UTSW 5 16,781,919 (GRCm39) missense probably benign
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
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'- CCCCGCAGAGGTATATTGTG -3'
(R):5'- AAGGACTGGTTGTGTTGACTACC -3'

Sequencing Primer
(F):5'- CCGCAGAGGTATATTGTGTTGTCC -3'
(R):5'- GGTTGTGTTGACTACCAAAAACG -3'
Posted On 2022-06-15