Incidental Mutation 'R4033:Fhit'
ID 313601
Institutional Source Beutler Lab
Gene Symbol Fhit
Ensembl Gene ENSMUSG00000060579
Gene Name fragile histidine triad gene
Synonyms Fra14A2
MMRRC Submission 040961-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.650) question?
Stock # R4033 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 11307738-12919681 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 10751671 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160340] [ENSMUST00000160956] [ENSMUST00000161895] [ENSMUST00000162278] [ENSMUST00000162817]
AlphaFold O89106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160149
Predicted Effect unknown
Transcript: ENSMUST00000160340
AA Change: W6R
SMART Domains Protein: ENSMUSP00000124017
Gene: ENSMUSG00000060579
AA Change: W6R

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 noncoding transcript
Transcript: ENSMUST00000161179
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226067
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (47/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l C G 8: 44,079,710 (GRCm39) M171I probably benign Het
Als2 G T 1: 59,235,400 (GRCm39) S761R probably benign Het
Ankrd63 C A 2: 118,533,412 (GRCm39) probably benign Het
Brf1 G A 12: 112,943,352 (GRCm39) T166M probably damaging Het
Car9 T C 4: 43,508,624 (GRCm39) V131A possibly damaging Het
Cerk T G 15: 86,039,228 (GRCm39) H221P possibly damaging Het
Cfap69 A T 5: 5,654,389 (GRCm39) I458N possibly damaging Het
Chil4 T C 3: 106,121,765 (GRCm39) Y28C probably damaging Het
Cracd A G 5: 77,006,312 (GRCm39) N891S unknown Het
Dmxl1 A G 18: 49,984,498 (GRCm39) T165A possibly damaging Het
Erich6b A T 14: 75,896,207 (GRCm39) N31I probably benign Het
Fgf17 G T 14: 70,878,966 (GRCm39) probably benign Het
Fnip1 A T 11: 54,393,297 (GRCm39) I578L probably benign Het
Gm17641 C T 3: 68,777,146 (GRCm39) R36W probably damaging Het
Gprin2 A T 14: 33,916,635 (GRCm39) D378E probably benign Het
Grhl3 T A 4: 135,300,735 (GRCm39) M1L probably benign Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Ifih1 G A 2: 62,465,534 (GRCm39) S212L probably benign Het
Iqck T C 7: 118,540,827 (GRCm39) I242T probably damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Lsm14b A G 2: 179,673,309 (GRCm39) K195E probably benign Het
Mical1 G A 10: 41,357,172 (GRCm39) V326I probably benign Het
Mtnr1b A T 9: 15,774,830 (GRCm39) N76K probably damaging Het
Nalcn T C 14: 123,837,401 (GRCm39) probably benign Het
Nop14 T C 5: 34,807,861 (GRCm39) D367G probably benign Het
Nrxn3 T C 12: 89,499,771 (GRCm39) C721R probably damaging Het
Or51e1 C T 7: 102,358,697 (GRCm39) T77I probably damaging Het
Prr27 G T 5: 87,991,164 (GRCm39) E259* probably null Het
Psmg3 G A 5: 139,812,086 (GRCm39) P5S probably damaging Het
Pxdn A G 12: 30,053,224 (GRCm39) T1134A probably benign Het
Rbm28 T C 6: 29,159,668 (GRCm39) N120S probably damaging Het
Reg3b A T 6: 78,350,192 (GRCm39) K157N possibly damaging Het
Rlf T G 4: 121,004,540 (GRCm39) Q1480P probably damaging Het
Slc16a12 A T 19: 34,652,567 (GRCm39) L193Q probably damaging Het
Smo G A 6: 29,759,917 (GRCm39) R672H probably damaging Het
Smyd4 A G 11: 75,240,580 (GRCm39) D25G probably benign Het
Sorbs2 C G 8: 46,228,632 (GRCm39) D264E probably damaging Het
Tctn3 G T 19: 40,585,767 (GRCm39) Q593K probably benign Het
Tdrd9 A T 12: 111,958,973 (GRCm39) I136L possibly damaging Het
Tshz3 G A 7: 36,470,009 (GRCm39) S666N possibly damaging Het
Ubn1 C T 16: 4,882,475 (GRCm39) T69M probably damaging Het
Unk A T 11: 115,944,353 (GRCm39) H368L probably benign Het
Zan A T 5: 137,436,122 (GRCm39) L2051* probably null 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
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
R8482:Fhit UTSW 14 10,751,616 (GRCm38) missense probably benign 0.09
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'- CCCAATTTGGAAGAAATGTTTCTCC -3'
(R):5'- GATGTAATGCTGCTTTCCACTTACG -3'

Sequencing Primer
(F):5'- ATGTTTCTCCACAAAAGCATCTC -3'
(R):5'- AAGGATGTTGAACTCTCAGCTCC -3'
Posted On 2015-04-30