Incidental Mutation 'IGL02716:F10'
ID 304793
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol F10
Ensembl Gene ENSMUSG00000031444
Gene Name coagulation factor X
Synonyms fX, AI194738, Cf10
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02716
Quality Score
Status
Chromosome 8
Chromosomal Location 13087308-13106676 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 13098177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 127 (K127*)
Ref Sequence ENSEMBL: ENSMUSP00000117312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033821] [ENSMUST00000063820] [ENSMUST00000123768] [ENSMUST00000128418] [ENSMUST00000152034]
AlphaFold O88947
Predicted Effect probably null
Transcript: ENSMUST00000033821
AA Change: K139*
SMART Domains Protein: ENSMUSP00000033821
Gene: ENSMUSG00000031444
AA Change: K139*

DomainStartEndE-ValueType
low complexity region 19 31 N/A INTRINSIC
GLA 34 97 5.98e-32 SMART
EGF_CA 98 134 4.56e-9 SMART
EGF 140 177 2.66e-1 SMART
low complexity region 201 218 N/A INTRINSIC
Tryp_SPc 243 471 9.03e-91 SMART
Predicted Effect probably null
Transcript: ENSMUST00000063820
AA Change: K127*
SMART Domains Protein: ENSMUSP00000068389
Gene: ENSMUSG00000031444
AA Change: K127*

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
GLA 22 85 5.98e-32 SMART
EGF_CA 86 122 4.56e-9 SMART
EGF 128 165 2.66e-1 SMART
low complexity region 189 206 N/A INTRINSIC
Tryp_SPc 231 459 9.03e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123768
SMART Domains Protein: ENSMUSP00000116984
Gene: ENSMUSG00000031444

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
GLA 22 85 5.98e-32 SMART
EGF 89 119 2.25e1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000128418
AA Change: K127*
SMART Domains Protein: ENSMUSP00000121830
Gene: ENSMUSG00000031444
AA Change: K127*

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
GLA 22 85 5.98e-32 SMART
EGF_CA 86 122 4.56e-9 SMART
EGF 128 165 2.66e-1 SMART
low complexity region 189 206 N/A INTRINSIC
Pfam:Trypsin 232 298 4e-16 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000152034
AA Change: K127*
SMART Domains Protein: ENSMUSP00000117312
Gene: ENSMUSG00000031444
AA Change: K127*

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
GLA 22 85 5.98e-32 SMART
EGF_CA 86 122 4.56e-9 SMART
EGF 128 165 2.66e-1 SMART
low complexity region 189 206 N/A INTRINSIC
Pfam:Trypsin 232 297 1.1e-15 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes factor X, a component of both the intrinsic and extrinsic blood coagulation pathways. The encoded protein is a zymogen that undergoes further processing in a vitamin K-dependent manner to generate mature factor X, a heterodimer comprised of disulfide-linked heavy and light chains. The mature factor X is proteolytically activated either by factor IXa (intrinsic pathway) or factor VIIa (extrinsic pathway) to form factor Xa serine endopeptidase. Activated factor Xa catalyzes the conversion of prothrombin to thrombin. A complete lack of the encoded protein is fatal to mice. A severe deficiency of the encoded protein in mice causes age-dependent iron deposition and cardiac fibrosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Most homozygous mice die from fatal bleeding events at embryonic and neonatal stages, with the remaining homozygous mice dying before weaning stages. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 T C 11: 54,218,102 (GRCm39) S212P probably benign Het
Ago2 C T 15: 72,983,576 (GRCm39) R711Q possibly damaging Het
Akp3 A C 1: 87,053,201 (GRCm39) D91A probably damaging Het
Arhgap12 T A 18: 6,111,857 (GRCm39) Q169L possibly damaging Het
Aspm A G 1: 139,407,425 (GRCm39) Y2104C probably damaging Het
Baz2b G A 2: 59,792,868 (GRCm39) S420L possibly damaging Het
Cenpo T C 12: 4,265,390 (GRCm39) N210S possibly damaging Het
Chadl T C 15: 81,580,116 (GRCm39) N40D probably damaging Het
Crebbp T C 16: 3,932,742 (GRCm39) E586G probably benign Het
Cts7 T A 13: 61,504,422 (GRCm39) Q47L probably benign Het
Cyp2c40 C A 19: 39,795,980 (GRCm39) D133Y possibly damaging Het
Dnah3 A T 7: 119,536,246 (GRCm39) M3679K probably damaging Het
Dym T C 18: 75,419,754 (GRCm39) Y642H probably damaging Het
Efr3b T C 12: 4,034,627 (GRCm39) D65G probably damaging Het
Elmo1 T A 13: 20,633,672 (GRCm39) F445I probably damaging Het
Epdr1 C T 13: 19,778,740 (GRCm39) V119M probably benign Het
Epha4 G T 1: 77,357,602 (GRCm39) R799S probably damaging Het
Esyt3 A T 9: 99,199,277 (GRCm39) V778E probably damaging Het
Fcgbp G A 7: 27,800,859 (GRCm39) E1302K probably damaging Het
Fer1l4 A G 2: 155,871,635 (GRCm39) F1382L probably damaging Het
Fhad1 T C 4: 141,645,642 (GRCm39) I318V possibly damaging Het
Fscn2 A T 11: 120,257,550 (GRCm39) T304S probably benign Het
Gab1 A T 8: 81,496,323 (GRCm39) L659Q probably damaging Het
Gm4845 A C 1: 141,184,576 (GRCm39) noncoding transcript Het
Gm572 A G 4: 148,739,327 (GRCm39) M52V probably benign Het
Hmgcr T C 13: 96,796,520 (GRCm39) probably null Het
Kcnk5 T C 14: 20,231,496 (GRCm39) T9A probably damaging Het
Krt87 A C 15: 101,332,485 (GRCm39) F243V possibly damaging Het
Lyset A G 12: 102,711,088 (GRCm39) T104A probably benign Het
Mast1 G T 8: 85,662,352 (GRCm39) P52Q probably damaging Het
Mcf2l A T 8: 13,047,277 (GRCm39) Q211L probably benign Het
Mtrex T G 13: 113,019,680 (GRCm39) D810A probably benign Het
Mtus2 C A 5: 148,173,120 (GRCm39) P968T probably benign Het
Mylk2 T C 2: 152,764,073 (GRCm39) *614R probably null Het
Myo15b A T 11: 115,774,535 (GRCm39) E2049V probably benign Het
Myo6 A T 9: 80,176,976 (GRCm39) H581L probably damaging Het
Numb A T 12: 83,847,982 (GRCm39) S241T possibly damaging Het
Or1j10 A G 2: 36,267,355 (GRCm39) D189G possibly damaging Het
Or4k77 A T 2: 111,199,126 (GRCm39) I50F probably benign Het
Or4x11 G T 2: 89,868,138 (GRCm39) V292L probably benign Het
Phldb2 A G 16: 45,621,953 (GRCm39) S676P probably damaging Het
Rttn G A 18: 89,066,541 (GRCm39) E1196K possibly damaging Het
Slc13a3 G A 2: 165,248,635 (GRCm39) P548S unknown Het
Slc2a7 A G 4: 150,244,467 (GRCm39) probably benign Het
Slc37a1 T C 17: 31,547,135 (GRCm39) S261P possibly damaging Het
Spryd3 T A 15: 102,041,896 (GRCm39) Y42F possibly damaging Het
Srrm3 A G 5: 135,883,287 (GRCm39) probably null Het
Stambp G A 6: 83,533,372 (GRCm39) T297I probably damaging Het
Sypl1 T A 12: 33,017,668 (GRCm39) Y129N probably damaging Het
Syt14 G A 1: 192,662,843 (GRCm39) P368S possibly damaging Het
Tas2r122 T C 6: 132,688,227 (GRCm39) D222G probably damaging Het
Tead2 C A 7: 44,881,720 (GRCm39) Y79* probably null Het
Uso1 T C 5: 92,321,794 (GRCm39) V229A probably damaging Het
Vmn1r238 A G 18: 3,123,124 (GRCm39) S97P probably damaging Het
Vmn2r82 T A 10: 79,213,678 (GRCm39) V88D probably benign Het
Vps29 A G 5: 122,500,129 (GRCm39) T85A probably benign Het
Wdr90 T A 17: 26,076,194 (GRCm39) S500C probably damaging Het
Zfp958 G A 8: 4,675,967 (GRCm39) probably null Het
Other mutations in F10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01104:F10 APN 8 13,105,686 (GRCm39) missense probably damaging 1.00
IGL01296:F10 APN 8 13,105,383 (GRCm39) missense possibly damaging 0.49
IGL02010:F10 APN 8 13,098,292 (GRCm39) missense probably damaging 0.97
IGL02707:F10 APN 8 13,098,252 (GRCm39) missense probably damaging 1.00
IGL03354:F10 APN 8 13,095,089 (GRCm39) missense probably benign 0.00
ju UTSW 8 13,105,698 (GRCm39) missense probably damaging 1.00
PIT4494001:F10 UTSW 8 13,103,423 (GRCm39) missense probably damaging 1.00
R0243:F10 UTSW 8 13,098,196 (GRCm39) missense probably damaging 1.00
R0321:F10 UTSW 8 13,103,413 (GRCm39) missense possibly damaging 0.95
R0416:F10 UTSW 8 13,105,448 (GRCm39) missense probably damaging 1.00
R0421:F10 UTSW 8 13,095,097 (GRCm39) missense probably benign 0.05
R0545:F10 UTSW 8 13,098,249 (GRCm39) missense probably damaging 1.00
R1630:F10 UTSW 8 13,105,551 (GRCm39) missense probably benign 0.00
R1732:F10 UTSW 8 13,100,764 (GRCm39) missense probably damaging 1.00
R1956:F10 UTSW 8 13,105,422 (GRCm39) missense probably damaging 1.00
R4130:F10 UTSW 8 13,105,584 (GRCm39) missense possibly damaging 0.94
R4700:F10 UTSW 8 13,089,621 (GRCm39) missense possibly damaging 0.93
R4989:F10 UTSW 8 13,105,698 (GRCm39) missense probably damaging 1.00
R5133:F10 UTSW 8 13,105,698 (GRCm39) missense probably damaging 1.00
R5134:F10 UTSW 8 13,105,698 (GRCm39) missense probably damaging 1.00
R6826:F10 UTSW 8 13,096,165 (GRCm39) splice site probably null
R7601:F10 UTSW 8 13,100,781 (GRCm39) missense probably benign 0.26
R8164:F10 UTSW 8 13,100,781 (GRCm39) missense probably benign 0.26
R8936:F10 UTSW 8 13,095,086 (GRCm39) missense probably damaging 1.00
R9165:F10 UTSW 8 13,089,564 (GRCm39) missense probably benign 0.00
R9260:F10 UTSW 8 13,105,638 (GRCm39) missense probably damaging 1.00
R9294:F10 UTSW 8 13,098,177 (GRCm39) nonsense probably null
X0024:F10 UTSW 8 13,105,859 (GRCm39) missense probably benign
Z1177:F10 UTSW 8 13,087,845 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16