Incidental Mutation 'R5319:Hgf'
ID 405974
Institutional Source Beutler Lab
Gene Symbol Hgf
Ensembl Gene ENSMUSG00000028864
Gene Name hepatocyte growth factor
Synonyms HGF/SF, NK1, C230052L06Rik, scatter factor, NK2, SF/HGF
MMRRC Submission 042902-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5319 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 16553495-16620152 bp(+) (GRCm38)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 16566862 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030683] [ENSMUST00000030683] [ENSMUST00000030683] [ENSMUST00000196645] [ENSMUST00000196645] [ENSMUST00000196645] [ENSMUST00000196645] [ENSMUST00000196645] [ENSMUST00000196645] [ENSMUST00000199581] [ENSMUST00000199581] [ENSMUST00000199581] [ENSMUST00000199581] [ENSMUST00000199581] [ENSMUST00000199581]
AlphaFold Q08048
Predicted Effect probably null
Transcript: ENSMUST00000030683
SMART Domains Protein: ENSMUSP00000030683
Gene: ENSMUSG00000028864

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 null
Transcript: ENSMUST00000030683
SMART Domains Protein: ENSMUSP00000030683
Gene: ENSMUSG00000028864

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 null
Transcript: ENSMUST00000030683
SMART Domains Protein: ENSMUSP00000030683
Gene: ENSMUSG00000028864

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 null
Transcript: ENSMUST00000196645
SMART Domains Protein: ENSMUSP00000142517
Gene: ENSMUSG00000028864

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 null
Transcript: ENSMUST00000196645
SMART Domains Protein: ENSMUSP00000142517
Gene: ENSMUSG00000028864

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 null
Transcript: ENSMUST00000196645
SMART Domains Protein: ENSMUSP00000142517
Gene: ENSMUSG00000028864

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 null
Transcript: ENSMUST00000196645
SMART Domains Protein: ENSMUSP00000142517
Gene: ENSMUSG00000028864

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 null
Transcript: ENSMUST00000196645
SMART Domains Protein: ENSMUSP00000142517
Gene: ENSMUSG00000028864

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 null
Transcript: ENSMUST00000196645
SMART Domains Protein: ENSMUSP00000142517
Gene: ENSMUSG00000028864

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 null
Transcript: ENSMUST00000199581
SMART Domains Protein: ENSMUSP00000143424
Gene: ENSMUSG00000028864

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 null
Transcript: ENSMUST00000199581
SMART Domains Protein: ENSMUSP00000143424
Gene: ENSMUSG00000028864

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 null
Transcript: ENSMUST00000199581
SMART Domains Protein: ENSMUSP00000143424
Gene: ENSMUSG00000028864

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 null
Transcript: ENSMUST00000199581
SMART Domains Protein: ENSMUSP00000143424
Gene: ENSMUSG00000028864

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 null
Transcript: ENSMUST00000199581
SMART Domains Protein: ENSMUSP00000143424
Gene: ENSMUSG00000028864

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 null
Transcript: ENSMUST00000199581
SMART Domains Protein: ENSMUSP00000143424
Gene: ENSMUSG00000028864

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: ENSMUST00000199900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200189
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (69/73)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik T C 5: 146,504,696 (GRCm38) S218P probably benign Het
A430078G23Rik T C 8: 3,385,010 (GRCm38) probably null Het
Ahctf1 A C 1: 179,769,050 (GRCm38) S121A probably damaging Het
Anpep C T 7: 79,841,731 (GRCm38) R174H probably benign Het
Becn1 A G 11: 101,288,803 (GRCm38) probably benign Het
Cabin1 T C 10: 75,725,715 (GRCm38) Y984C probably damaging Het
Cacna2d4 G T 6: 119,347,252 (GRCm38) probably null Het
Ccdc14 T G 16: 34,723,172 (GRCm38) N633K probably damaging Het
Cdk5rap1 T A 2: 154,335,569 (GRCm38) T577S possibly damaging Het
Clca4b T C 3: 144,925,179 (GRCm38) R307G possibly damaging Het
Colgalt2 A G 1: 152,484,869 (GRCm38) Q219R possibly damaging Het
Cops3 A T 11: 59,827,936 (GRCm38) D177E possibly damaging Het
Cyp2d9 T C 15: 82,454,055 (GRCm38) Y127H probably damaging Het
Dnajc11 A G 4: 151,968,526 (GRCm38) T98A probably damaging Het
Dst T C 1: 34,225,977 (GRCm38) S4757P possibly damaging Het
Dvl2 C T 11: 70,008,131 (GRCm38) T448I possibly damaging Het
E230016K23Rik T G 11: 83,621,670 (GRCm38) noncoding transcript Het
Efl1 G T 7: 82,674,506 (GRCm38) D219Y probably damaging Het
Epha10 T A 4: 124,914,000 (GRCm38) probably benign Het
Fbxw22 T A 9: 109,383,947 (GRCm38) T311S possibly damaging Het
Folr1 T A 7: 101,863,977 (GRCm38) D37V probably damaging Het
Fshb T A 2: 107,058,879 (GRCm38) I27F probably damaging Het
Gm340 G A 19: 41,586,352 (GRCm38) G1182D probably damaging Het
Gm8521 A T Y: 3,859,335 (GRCm38) noncoding transcript Het
Gpr45 T C 1: 43,032,838 (GRCm38) S214P probably damaging Het
Hs6st1 T C 1: 36,104,178 (GRCm38) V398A probably benign Het
Ighmbp2 A G 19: 3,271,646 (GRCm38) V371A probably damaging Het
Kif18a T A 2: 109,318,025 (GRCm38) N621K probably benign Het
Lama5 A G 2: 180,181,118 (GRCm38) F2785S probably damaging Het
Lrriq3 T C 3: 155,129,471 (GRCm38) I281T possibly damaging Het
Macf1 C T 4: 123,473,436 (GRCm38) A2511T probably damaging Het
Mark4 T C 7: 19,436,961 (GRCm38) D328G possibly damaging Het
Myo1c G A 11: 75,662,026 (GRCm38) E434K possibly damaging Het
Nfe2l1 A G 11: 96,819,379 (GRCm38) S387P probably damaging Het
Nr1d2 A G 14: 18,215,197 (GRCm38) S272P probably benign Het
Nsrp1 T C 11: 77,049,467 (GRCm38) H104R probably damaging Het
Odf1 T A 15: 38,219,619 (GRCm38) S64T probably benign Het
Or2aa1 A T 11: 59,589,651 (GRCm38) V146E probably damaging Het
Or4c106 T A 2: 88,852,778 (GRCm38) I276K probably damaging Het
Or7g25 C T 9: 19,249,033 (GRCm38) R122H possibly damaging Het
Pde4b C A 4: 102,421,788 (GRCm38) probably benign Het
Phox2a C T 7: 101,820,850 (GRCm38) T96M probably damaging Het
Plg A G 17: 12,403,227 (GRCm38) E478G possibly damaging Het
Polr3a T C 14: 24,454,941 (GRCm38) I1084V possibly damaging Het
Ppp1r12c T A 7: 4,483,984 (GRCm38) T517S probably benign Het
Ptk7 C T 17: 46,572,677 (GRCm38) V821M probably damaging Het
Ptpn6 C T 6: 124,732,950 (GRCm38) V2M probably benign Het
Rgl2 T C 17: 33,933,555 (GRCm38) V380A probably benign Het
Rpl13a-ps1 A G 19: 50,030,152 (GRCm38) V195A possibly damaging Het
Rsph1 C A 17: 31,273,377 (GRCm38) V72F probably benign Het
Sh3bp4 T C 1: 89,145,350 (GRCm38) V640A probably benign Het
Simc1 T A 13: 54,524,982 (GRCm38) V381E probably benign Het
Slc15a3 A T 19: 10,855,932 (GRCm38) T438S probably damaging Het
Slc5a4b C T 10: 76,062,399 (GRCm38) V494M probably benign Het
Sos2 C A 12: 69,627,284 (GRCm38) R335L probably benign Het
Trp53i13 A T 11: 77,508,740 (GRCm38) N254K probably damaging Het
Trpc6 A G 9: 8,609,921 (GRCm38) Y130C probably damaging Het
Trpv1 A G 11: 73,239,589 (GRCm38) I174V probably damaging Het
Tsnax T A 8: 125,015,719 (GRCm38) D62E probably damaging Het
Vezt T A 10: 93,970,331 (GRCm38) E739D probably benign Het
Vmn1r59 T A 7: 5,454,210 (GRCm38) I184F probably damaging Het
Yeats2 T C 16: 20,186,425 (GRCm38) V385A probably benign Het
Other mutations in Hgf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Hgf APN 5 16,611,882 (GRCm38) missense possibly damaging 0.70
IGL00427:Hgf APN 5 16,578,486 (GRCm38) missense probably benign 0.09
IGL00788:Hgf APN 5 16,598,230 (GRCm38) missense probably damaging 0.99
IGL01290:Hgf APN 5 16,604,846 (GRCm38) missense probably damaging 1.00
IGL01333:Hgf APN 5 16,576,941 (GRCm38) nonsense probably null
IGL01568:Hgf APN 5 16,564,814 (GRCm38) missense probably damaging 1.00
IGL02314:Hgf APN 5 16,572,602 (GRCm38) missense probably damaging 0.99
IGL02328:Hgf APN 5 16,598,221 (GRCm38) missense probably damaging 1.00
IGL02368:Hgf APN 5 16,564,794 (GRCm38) missense possibly damaging 0.95
IGL02486:Hgf APN 5 16,602,289 (GRCm38) missense probably damaging 1.00
IGL02654:Hgf APN 5 16,561,051 (GRCm38) missense probably benign
Foiegras UTSW 5 16,615,802 (GRCm38) missense probably benign 0.01
PIT4378001:Hgf UTSW 5 16,611,862 (GRCm38) missense probably damaging 1.00
R0708:Hgf UTSW 5 16,566,763 (GRCm38) nonsense probably null
R0710:Hgf UTSW 5 16,566,763 (GRCm38) nonsense probably null
R0718:Hgf UTSW 5 16,593,859 (GRCm38) missense probably damaging 1.00
R0967:Hgf UTSW 5 16,593,841 (GRCm38) splice site probably benign
R1181:Hgf UTSW 5 16,618,925 (GRCm38) missense probably damaging 1.00
R1589:Hgf UTSW 5 16,613,785 (GRCm38) missense probably damaging 1.00
R1705:Hgf UTSW 5 16,615,802 (GRCm38) missense probably benign 0.01
R1983:Hgf UTSW 5 16,561,012 (GRCm38) missense possibly damaging 0.53
R2021:Hgf UTSW 5 16,576,921 (GRCm38) missense probably benign
R2441:Hgf UTSW 5 16,604,790 (GRCm38) missense probably damaging 0.99
R4083:Hgf UTSW 5 16,615,858 (GRCm38) nonsense probably null
R4084:Hgf UTSW 5 16,615,858 (GRCm38) nonsense probably null
R4211:Hgf UTSW 5 16,614,993 (GRCm38) missense probably damaging 0.99
R4388:Hgf UTSW 5 16,614,943 (GRCm38) missense probably benign 0.12
R4394:Hgf UTSW 5 16,618,951 (GRCm38) nonsense probably null
R4575:Hgf UTSW 5 16,572,601 (GRCm38) missense probably benign
R5044:Hgf UTSW 5 16,614,894 (GRCm38) missense probably benign 0.00
R5585:Hgf UTSW 5 16,564,801 (GRCm38) missense possibly damaging 0.93
R5700:Hgf UTSW 5 16,610,124 (GRCm38) missense probably damaging 1.00
R5814:Hgf UTSW 5 16,602,307 (GRCm38) missense probably benign 0.19
R6125:Hgf UTSW 5 16,598,161 (GRCm38) missense probably damaging 1.00
R6749:Hgf UTSW 5 16,613,642 (GRCm38) splice site probably null
R6891:Hgf UTSW 5 16,604,922 (GRCm38) critical splice donor site probably null
R6962:Hgf UTSW 5 16,615,754 (GRCm38) missense probably benign 0.32
R7251:Hgf UTSW 5 16,593,944 (GRCm38) missense possibly damaging 0.95
R7296:Hgf UTSW 5 16,564,843 (GRCm38) missense probably benign 0.39
R7463:Hgf UTSW 5 16,578,450 (GRCm38) missense probably benign 0.00
R7470:Hgf UTSW 5 16,618,856 (GRCm38) missense probably benign 0.02
R7630:Hgf UTSW 5 16,598,250 (GRCm38) missense probably benign 0.01
R7807:Hgf UTSW 5 16,577,011 (GRCm38) missense probably damaging 0.99
R8098:Hgf UTSW 5 16,561,061 (GRCm38) missense probably benign 0.04
R8120:Hgf UTSW 5 16,613,781 (GRCm38) missense probably damaging 1.00
R8132:Hgf UTSW 5 16,602,331 (GRCm38) missense probably damaging 1.00
R8499:Hgf UTSW 5 16,566,856 (GRCm38) missense probably damaging 0.99
R8929:Hgf UTSW 5 16,593,990 (GRCm38) missense probably benign 0.44
R9016:Hgf UTSW 5 16,618,958 (GRCm38) missense probably damaging 1.00
R9126:Hgf UTSW 5 16,560,981 (GRCm38) missense possibly damaging 0.95
R9197:Hgf UTSW 5 16,561,061 (GRCm38) missense probably benign 0.04
R9347:Hgf UTSW 5 16,604,923 (GRCm38) critical splice donor site probably null
R9478:Hgf UTSW 5 16,561,031 (GRCm38) missense possibly damaging 0.70
R9696:Hgf UTSW 5 16,572,536 (GRCm38) missense probably damaging 1.00
R9729:Hgf UTSW 5 16,561,031 (GRCm38) missense probably damaging 0.97
R9732:Hgf UTSW 5 16,615,750 (GRCm38) missense probably damaging 1.00
X0024:Hgf UTSW 5 16,604,828 (GRCm38) missense probably damaging 1.00
Z1088:Hgf UTSW 5 16,618,919 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTTCTCCACTAAGAACAGCATGTG -3'
(R):5'- TAGTACCCTCTCAAAGGCAAAAGATTC -3'

Sequencing Primer
(F):5'- AAGGGACGGTATCCATCA -3'
(R):5'- CCTCTCAAAGGCAAAAGATTCATTTC -3'
Posted On 2016-07-22