Incidental Mutation 'R7807:Hgf'
ID 600852
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 045862-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7807 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 16758493-16825150 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16782009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 244 (H244R)
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 probably damaging
Transcript: ENSMUST00000030683
AA Change: H244R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030683
Gene: ENSMUSG00000028864
AA Change: H244R

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 probably benign
Transcript: ENSMUST00000196645
AA Change: H239R

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000142517
Gene: ENSMUSG00000028864
AA Change: H239R

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 probably damaging
Transcript: ENSMUST00000199581
AA Change: H244R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143424
Gene: ENSMUSG00000028864
AA Change: H244R

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (68/68)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 C A 9: 21,447,276 (GRCm39) T146K probably benign Het
Alms1 T A 6: 85,599,958 (GRCm39) S1595T possibly damaging Het
Ankrd44 A T 1: 54,831,635 (GRCm39) I56N probably damaging Het
Anln C A 9: 22,272,176 (GRCm39) V648F probably damaging Het
Arhgap29 A G 3: 121,807,981 (GRCm39) D1053G probably benign Het
Baalc T C 15: 38,797,412 (GRCm39) S68P probably benign Het
Begain T C 12: 109,004,856 (GRCm39) D52G probably damaging Het
Blmh A G 11: 76,837,040 (GRCm39) I41V probably benign Het
Bpifc T A 10: 85,812,114 (GRCm39) I365F possibly damaging Het
C2 G T 17: 35,095,347 (GRCm39) S199R possibly damaging Het
Ccbe1 T A 18: 66,199,828 (GRCm39) H298L probably damaging Het
Ccdc112 T A 18: 46,423,826 (GRCm39) K304I probably damaging Het
Ccdc15 T C 9: 37,226,678 (GRCm39) E432G probably benign Het
Cdh13 T A 8: 119,010,594 (GRCm39) M1K probably null Het
Cipc T C 12: 87,008,899 (GRCm39) S253P possibly damaging Het
Clcn1 A G 6: 42,287,282 (GRCm39) probably null Het
Clock A T 5: 76,390,982 (GRCm39) N273K probably benign Het
Cyp19a1 T C 9: 54,074,126 (GRCm39) D476G probably benign Het
Dnaaf9 T C 2: 130,552,785 (GRCm39) K1092E probably damaging Het
Dnah7b A G 1: 46,253,527 (GRCm39) I1811V probably benign Het
Fat1 C A 8: 45,495,010 (GRCm39) T4091K probably damaging Het
Gm10340 T A 14: 14,826,724 (GRCm39) N64K probably damaging Het
Hectd1 G A 12: 51,792,171 (GRCm39) R2523C probably damaging Het
Hgs G T 11: 120,370,760 (GRCm39) A567S probably damaging Het
Igdcc4 T C 9: 65,041,077 (GRCm39) V1036A probably benign Het
Keg1 G A 19: 12,691,998 (GRCm39) probably null Het
Klhl8 A T 5: 104,023,932 (GRCm39) L156Q probably damaging Het
Lmln T C 16: 32,927,501 (GRCm39) Y521H probably benign Het
Lrrc7 A G 3: 157,866,124 (GRCm39) S1206P probably damaging Het
Mad1l1 T A 5: 140,074,541 (GRCm39) I550F probably benign Het
Marf1 C T 16: 13,971,753 (GRCm39) W28* probably null Het
Mfsd11 T G 11: 116,754,733 (GRCm39) S215A probably benign Het
Mpped2 C A 2: 106,575,085 (GRCm39) H57N possibly damaging Het
Mslnl A G 17: 25,965,751 (GRCm39) M542V probably benign Het
Myh6 G T 14: 55,179,897 (GRCm39) H1903Q probably damaging Het
Neo1 T C 9: 58,897,777 (GRCm39) T60A probably benign Het
Npm2 T A 14: 70,889,947 (GRCm39) probably null Het
Or5b123 C A 19: 13,597,285 (GRCm39) T210K probably damaging Het
Or5d20-ps1 T C 2: 87,931,909 (GRCm39) S141G probably benign Het
Or7a39 T A 10: 78,715,043 (GRCm39) S12R probably benign Het
Pax9 A T 12: 56,743,850 (GRCm39) I166F possibly damaging Het
Pcsk9 A G 4: 106,321,092 (GRCm39) S6P possibly damaging Het
Pikfyve A G 1: 65,309,101 (GRCm39) Y1893C probably damaging Het
Pirb T C 7: 3,722,864 (GRCm39) T43A possibly damaging Het
Pou3f1 A G 4: 124,552,074 (GRCm39) D192G possibly damaging Het
Pus3 C G 9: 35,478,021 (GRCm39) R418G probably damaging Het
Rexo1 C T 10: 80,385,970 (GRCm39) V363I probably benign Het
Sdcbp A G 4: 6,393,688 (GRCm39) T269A probably damaging Het
Sele T C 1: 163,881,462 (GRCm39) V523A probably benign Het
Serpinb8 T A 1: 107,532,457 (GRCm39) M183K probably damaging Het
Sh2d4a T G 8: 68,735,033 (GRCm39) S51A probably benign Het
Siglec15 A G 18: 78,090,696 (GRCm39) S201P probably damaging Het
Slc10a5 C T 3: 10,400,529 (GRCm39) V44I probably benign Het
Slc16a13 A G 11: 70,111,388 (GRCm39) V39A probably damaging Het
Slc25a13 G A 6: 6,117,164 (GRCm39) R184W probably damaging Het
Slc35f5 T A 1: 125,512,278 (GRCm39) D359E probably damaging Het
Slc3a1 A G 17: 85,371,371 (GRCm39) E641G probably benign Het
Slf1 T C 13: 77,194,823 (GRCm39) D834G probably damaging Het
Spata31f1e A C 4: 42,793,885 (GRCm39) H82Q probably benign Het
Stim1 T C 7: 102,076,348 (GRCm39) I433T probably damaging Het
Stra6 T A 9: 58,057,444 (GRCm39) I418K probably damaging Het
Tanc2 A G 11: 105,758,480 (GRCm39) N747S probably benign Het
Tet2 T C 3: 133,192,302 (GRCm39) T711A possibly damaging Het
Trpm6 T C 19: 18,807,220 (GRCm39) I988T probably benign Het
Ttc41 T A 10: 86,612,495 (GRCm39) I1256N probably benign Het
Uba2 T C 7: 33,862,638 (GRCm39) D100G possibly damaging Het
Vmn1r43 A G 6: 89,847,219 (GRCm39) I89T probably benign Het
Vmn2r58 T A 7: 41,521,910 (GRCm39) Y62F probably benign Het
Ylpm1 C T 12: 85,060,855 (GRCm39) Q428* probably null Het
Zcrb1 T C 15: 93,289,002 (GRCm39) D88G probably damaging Het
Zmym1 A C 4: 126,941,667 (GRCm39) I907S 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
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'- TTGTCCTTTAAACAGAACAGTGGTC -3'
(R):5'- ATCCTATCAGCCCAAGATAATTGTC -3'

Sequencing Primer
(F):5'- AACAGAACAGTGGTCTTGCTTTTG -3'
(R):5'- GCCCAAGATAATTGTCTGCAAAC -3'
Posted On 2019-11-26