Incidental Mutation 'R5700:Hgf'
ID 450836
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 043328-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5700 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 16758493-16825150 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 16815122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 471 (P471L)
Ref Sequence ENSEMBL: ENSMUSP00000142517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030683] [ENSMUST00000196645] [ENSMUST00000199581]
AlphaFold Q08048
Predicted Effect probably damaging
Transcript: ENSMUST00000030683
AA Change: P476L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030683
Gene: ENSMUSG00000028864
AA Change: P476L

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 damaging
Transcript: ENSMUST00000196645
AA Change: P471L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142517
Gene: ENSMUSG00000028864
AA Change: P471L

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: P476L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143424
Gene: ENSMUSG00000028864
AA Change: P476L

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: ENSMUST00000200612
Meta Mutation Damage Score 0.0661 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (50/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,786,633 (GRCm39) Q155L probably benign Het
Acadvl A C 11: 69,904,029 (GRCm39) Y242D probably damaging Het
Armc8 A G 9: 99,378,202 (GRCm39) probably null Het
Barx2 A T 9: 31,770,061 (GRCm39) F156I probably damaging Het
Best1 T C 19: 9,974,563 (GRCm39) probably benign Het
Btbd8 T C 5: 107,651,514 (GRCm39) S136P possibly damaging Het
Btla T A 16: 45,070,936 (GRCm39) Y298* probably null Het
Casr T A 16: 36,329,979 (GRCm39) I452F probably damaging Het
Ccser1 C A 6: 61,288,260 (GRCm39) P141H probably benign Het
Cr2 A G 1: 194,842,065 (GRCm39) V296A probably damaging Het
Csl T A 10: 99,594,877 (GRCm39) I63F probably damaging Het
Dbt G A 3: 116,313,952 (GRCm39) V40M probably damaging Het
Fam53b A T 7: 132,361,749 (GRCm39) L93Q probably damaging Het
Fdps T C 3: 89,002,956 (GRCm39) I105V probably damaging Het
Gm4884 A G 7: 40,692,643 (GRCm39) D204G probably benign Het
Gm5592 A G 7: 40,808,003 (GRCm39) probably benign Het
Gm7367 A T 7: 59,805,510 (GRCm39) noncoding transcript Het
Grid2 T A 6: 64,071,416 (GRCm39) V413D possibly damaging Het
Hoxc9 T C 15: 102,890,313 (GRCm39) Y77H possibly damaging Het
Hs6st3 C T 14: 119,376,199 (GRCm39) R125* probably null Het
Kdm4b T C 17: 56,658,700 (GRCm39) I15T possibly damaging Het
Klhl1 T C 14: 96,755,476 (GRCm39) N93S probably benign Het
Klhl6 G A 16: 19,775,968 (GRCm39) Q197* probably null Het
Medag T C 5: 149,345,682 (GRCm39) V7A probably benign Het
Mptx2 G A 1: 173,102,414 (GRCm39) L92F probably benign Het
Nckap5 C T 1: 125,904,662 (GRCm39) probably null Het
Obscn T C 11: 59,024,020 (GRCm39) K550R probably benign Het
Or2d36 A G 7: 106,746,748 (GRCm39) N75S probably benign Het
Or2w1b T A 13: 21,300,171 (GRCm39) V103E probably damaging Het
Or5h25 T A 16: 58,930,356 (GRCm39) I206F probably damaging Het
Or7a42 T C 10: 78,791,318 (GRCm39) I93T probably damaging Het
Parp6 T C 9: 59,532,010 (GRCm39) S101P probably damaging Het
Plcd3 T C 11: 102,964,589 (GRCm39) N594S probably benign Het
Plscr5 A T 9: 92,087,564 (GRCm39) K178* probably null Het
Ppp2r1b T C 9: 50,789,457 (GRCm39) Y443H probably damaging Het
Prnd G A 2: 131,795,263 (GRCm39) V128I probably benign Het
Rftn1 G T 17: 50,309,697 (GRCm39) P156Q probably damaging Het
Scmh1 T C 4: 120,374,143 (GRCm39) V445A probably benign Het
Serpinb6c A T 13: 34,083,291 (GRCm39) M41K probably damaging Het
Slc66a1 C T 4: 139,027,565 (GRCm39) S259N probably damaging Het
Spns1 A G 7: 125,971,641 (GRCm39) V303A possibly damaging Het
Ston1 T A 17: 88,951,767 (GRCm39) S639R probably damaging Het
Thbs4 T C 13: 92,913,461 (GRCm39) D153G probably benign Het
Timm44 T C 8: 4,324,171 (GRCm39) Y36C probably damaging Het
Trim34b G T 7: 103,985,618 (GRCm39) V418F probably damaging Het
Vmn1r72 C T 7: 11,404,350 (GRCm39) V33M probably damaging Het
Zcchc7 T C 4: 44,931,084 (GRCm39) V412A probably benign Het
Zfand1 T A 3: 10,406,079 (GRCm39) N210I probably damaging Het
Zfhx3 A G 8: 109,660,499 (GRCm39) H1251R 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
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'- TCTGACAAAGCCATGAAGCC -3'
(R):5'- CTGCACTTATAGAGGAACTGAGTTC -3'

Sequencing Primer
(F):5'- AACAAGACTTTGCCCATATTATATCC -3'
(R):5'- CTGTATCAGGTGGCTCACTACAAG -3'
Posted On 2017-01-03