Incidental Mutation 'R8482:Fhit'
ID 657584
Institutional Source Beutler Lab
Gene Symbol Fhit
Ensembl Gene ENSMUSG00000060579
Gene Name fragile histidine triad gene
Synonyms Fra14A2
MMRRC Submission 067926-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.650) question?
Stock # R8482 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 11307738-12919681 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10751616 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 24 (V24A)
Ref Sequence ENSEMBL: ENSMUSP00000124017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160340] [ENSMUST00000160956] [ENSMUST00000161895] [ENSMUST00000162278] [ENSMUST00000162817]
AlphaFold O89106
Predicted Effect probably benign
Transcript: ENSMUST00000160340
AA Change: V24A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000124017
Gene: ENSMUSG00000060579
AA Change: V24A

DomainStartEndE-ValueType
Pfam:DcpS_C 60 170 2e-9 PFAM
Pfam:HIT 72 168 6.8e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160956
SMART Domains Protein: ENSMUSP00000123820
Gene: ENSMUSG00000060579

DomainStartEndE-ValueType
Pfam:HIT 9 57 6.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161895
SMART Domains Protein: ENSMUSP00000124957
Gene: ENSMUSG00000060579

DomainStartEndE-ValueType
Pfam:DcpS_C 6 110 4.3e-10 PFAM
Pfam:HIT 9 105 2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162278
SMART Domains Protein: ENSMUSP00000124073
Gene: ENSMUSG00000060579

DomainStartEndE-ValueType
Pfam:DcpS_C 7 110 8.2e-10 PFAM
Pfam:HIT 9 105 4.9e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162817
SMART Domains Protein: ENSMUSP00000124500
Gene: ENSMUSG00000060579

DomainStartEndE-ValueType
Pfam:DcpS_C 5 100 2.3e-7 PFAM
Pfam:HIT 9 100 1.9e-24 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (49/49)
MGI Phenotype FUNCTION: This gene encodes a member of the HIT family of proteins that are characterized by the presence of a histidine triad sequence. The encoded protein is a diadenosine triphosphate hydrolase enzyme that cleaves the P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP. This locus is very fragile and has been found to be altered in different types of cancers. Mice lacking the encoded protein display increased susceptibility to spontaneous and induced tumors. Ectopic expression of the encoded protein in such knockout mice inhibits tumor development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Both homozygotes and heterozygotes for a targeted null mutation exhibit a similarly increased incidence of both spontaneous and nitrosomethylbenzalamine-induced tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G A 7: 78,746,492 (GRCm39) V711I probably benign Het
Adprh A T 16: 38,267,871 (GRCm39) M138K probably damaging Het
Ahctf1 A G 1: 179,591,107 (GRCm39) probably benign Het
Atg9a G A 1: 75,162,870 (GRCm39) T410M probably damaging Het
Atxn1 A T 13: 45,721,426 (GRCm39) S156R possibly damaging Het
Bptf T C 11: 106,934,524 (GRCm39) T2850A probably benign Het
Cc2d2a A T 5: 43,852,581 (GRCm39) Y386F probably damaging Het
Ccdc97 T C 7: 25,414,427 (GRCm39) D109G probably damaging Het
Chd5 C T 4: 152,441,147 (GRCm39) R196* probably null Het
Clec4a2 T C 6: 123,100,630 (GRCm39) probably null Het
Col13a1 A G 10: 61,720,477 (GRCm39) I317T probably damaging Het
D630003M21Rik G T 2: 158,058,852 (GRCm39) S349R probably benign Het
Eml5 C A 12: 98,842,560 (GRCm39) L179F probably damaging Het
Entrep1 T A 19: 23,965,866 (GRCm39) N211I probably damaging Het
Ets2 A T 16: 95,516,019 (GRCm39) M200L probably benign Het
Fat3 T C 9: 16,158,263 (GRCm39) T1116A probably benign Het
Gm6685 T C 11: 28,289,195 (GRCm39) N207S probably benign Het
Hdc G A 2: 126,436,125 (GRCm39) T582M probably benign Het
Hmgxb4 G A 8: 75,756,222 (GRCm39) C575Y probably damaging Het
Kidins220 T A 12: 25,090,527 (GRCm39) S1164T probably benign Het
Ldb1 C A 19: 46,024,709 (GRCm39) D5Y probably null Het
Lpcat1 G A 13: 73,659,044 (GRCm39) R320H probably benign Het
Lrfn4 T C 19: 4,664,333 (GRCm39) D67G probably damaging Het
Myo15b C T 11: 115,774,083 (GRCm39) Q550* probably null Het
Myo18b C A 5: 113,019,489 (GRCm39) E43* probably null Het
Neurl1a T C 19: 47,241,719 (GRCm39) C271R probably damaging Het
Nfasc T C 1: 132,532,827 (GRCm39) S690G probably damaging Het
Ngly1 T C 14: 16,310,377 (GRCm38) S501P probably benign Het
Nlrp1a A T 11: 70,999,901 (GRCm39) probably null Het
Npw A G 17: 24,876,396 (GRCm39) W172R probably benign Het
Nudt8 T C 19: 4,050,849 (GRCm39) probably null Het
Nyap2 A T 1: 81,219,352 (GRCm39) Y458F probably damaging Het
Or10ag56 G A 2: 87,139,726 (GRCm39) V198I probably benign Het
Osbpl5 T A 7: 143,258,731 (GRCm39) T280S probably benign Het
Pex1 A T 5: 3,662,923 (GRCm39) I505F probably benign Het
Pfkm A G 15: 98,029,864 (GRCm39) E756G probably benign Het
Pkd2l2 A G 18: 34,558,166 (GRCm39) I282V possibly damaging Het
Pnpla8 T C 12: 44,330,410 (GRCm39) S321P probably benign Het
Prxl2a C T 14: 40,719,723 (GRCm39) E164K probably benign Het
Qdpr G T 5: 45,596,688 (GRCm39) Q159K probably benign Het
Rac2 T C 15: 78,450,206 (GRCm39) M45V probably benign Het
Rnaset2b G A 17: 7,263,908 (GRCm39) probably null Het
Rpl38 T A 11: 114,563,114 (GRCm39) *71R probably null Het
Sacs G T 14: 61,440,404 (GRCm39) V817L probably benign Het
Selenot T C 3: 58,495,889 (GRCm39) F133S probably damaging Het
Sgcg G A 14: 61,477,856 (GRCm39) L78F probably damaging Het
Slc19a1 A G 10: 76,885,497 (GRCm39) R466G probably benign Het
Tpr A G 1: 150,309,451 (GRCm39) T1736A probably damaging Het
Zfhx3 A G 8: 109,674,511 (GRCm39) I1854V probably benign Het
Zfp652 T C 11: 95,643,719 (GRCm39) S306P probably damaging Het
Zfp998 C T 13: 66,579,797 (GRCm39) probably benign Het
Other mutations in Fhit
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Fhit APN 14 9,573,483 (GRCm38) missense probably benign 0.19
IGL01412:Fhit APN 14 9,870,065 (GRCm38) missense probably damaging 1.00
IGL02831:Fhit APN 14 9,870,080 (GRCm38) missense probably benign 0.00
IGL03025:Fhit APN 14 10,421,534 (GRCm38) missense probably damaging 1.00
overtax UTSW 14 10,421,534 (GRCm38) missense probably damaging 1.00
R0464:Fhit UTSW 14 10,991,567 (GRCm38) start gained probably benign
R0544:Fhit UTSW 14 9,870,172 (GRCm38) missense probably damaging 1.00
R3545:Fhit UTSW 14 9,870,095 (GRCm38) missense probably benign 0.03
R3547:Fhit UTSW 14 9,870,095 (GRCm38) missense probably benign 0.03
R3548:Fhit UTSW 14 9,870,095 (GRCm38) missense probably benign 0.03
R4033:Fhit UTSW 14 10,751,671 (GRCm38) intron probably benign
R4685:Fhit UTSW 14 9,870,091 (GRCm38) missense probably damaging 1.00
R4968:Fhit UTSW 14 10,421,522 (GRCm38) missense probably damaging 1.00
R5624:Fhit UTSW 14 10,421,534 (GRCm38) missense probably damaging 1.00
R6011:Fhit UTSW 14 9,870,068 (GRCm38) missense probably benign 0.16
R6061:Fhit UTSW 14 9,573,435 (GRCm38) missense probably benign 0.00
R6208:Fhit UTSW 14 9,573,435 (GRCm38) missense probably benign 0.00
R6846:Fhit UTSW 14 9,763,762 (GRCm38) missense possibly damaging 0.73
R7288:Fhit UTSW 14 9,763,784 (GRCm38) missense probably damaging 1.00
R7625:Fhit UTSW 14 9,870,177 (GRCm38) critical splice acceptor site probably null
R8094:Fhit UTSW 14 10,751,666 (GRCm38) missense unknown
R8781:Fhit UTSW 14 10,421,503 (GRCm38) missense probably damaging 0.99
R9246:Fhit UTSW 14 10,421,494 (GRCm38) critical splice donor site probably null
Z1177:Fhit UTSW 14 9,870,128 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCAAGGAGAAAGTGTTAGCTTATTCC -3'
(R):5'- ATGTAATGCTGCTTTCCACTTACG -3'

Sequencing Primer
(F):5'- GCTTATTCCAAAAGACTATCTGCG -3'
(R):5'- AAGGATGTTGAACTCTCAGCTCC -3'
Posted On 2021-01-18