Incidental Mutation 'IGL01412:Fhit'
ID 80069
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fhit
Ensembl Gene ENSMUSG00000060579
Gene Name fragile histidine triad gene
Synonyms Fra14A2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.650) question?
Stock # IGL01412
Quality Score
Status
Chromosome 14
Chromosomal Location 11307738-12919681 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 9870065 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 72 (H72N)
Ref Sequence ENSEMBL: ENSMUSP00000124957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160340] [ENSMUST00000160956] [ENSMUST00000161302] [ENSMUST00000161895] [ENSMUST00000162278] [ENSMUST00000162817] [ENSMUST00000179394]
AlphaFold O89106
Predicted Effect probably damaging
Transcript: ENSMUST00000160340
AA Change: H135N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124017
Gene: ENSMUSG00000060579
AA Change: H135N

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 damaging
Transcript: ENSMUST00000161302
AA Change: H72N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123874
Gene: ENSMUSG00000060579
AA Change: H72N

DomainStartEndE-ValueType
Pfam:DcpS_C 7 110 8.2e-10 PFAM
Pfam:HIT 9 105 4.9e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161895
AA Change: H72N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124957
Gene: ENSMUSG00000060579
AA Change: H72N

DomainStartEndE-ValueType
Pfam:DcpS_C 6 110 4.3e-10 PFAM
Pfam:HIT 9 105 2e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162278
AA Change: H72N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124073
Gene: ENSMUSG00000060579
AA Change: H72N

DomainStartEndE-ValueType
Pfam:DcpS_C 7 110 8.2e-10 PFAM
Pfam:HIT 9 105 4.9e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162817
AA Change: H72N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124500
Gene: ENSMUSG00000060579
AA Change: H72N

DomainStartEndE-ValueType
Pfam:DcpS_C 5 100 2.3e-7 PFAM
Pfam:HIT 9 100 1.9e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179394
AA Change: H72N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136011
Gene: ENSMUSG00000060579
AA Change: H72N

DomainStartEndE-ValueType
Pfam:DcpS_C 7 110 8.2e-10 PFAM
Pfam:HIT 9 105 4.9e-28 PFAM
Coding Region Coverage
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik G A 15: 12,815,958 (GRCm39) Q222* probably null Het
Adamts2 A G 11: 50,686,230 (GRCm39) E1016G probably benign Het
Agmo G A 12: 37,452,140 (GRCm39) E269K possibly damaging Het
Agrn A T 4: 156,255,491 (GRCm39) probably benign Het
Alpk1 A T 3: 127,473,621 (GRCm39) L794Q possibly damaging Het
Asb14 T A 14: 26,637,022 (GRCm39) L588H probably damaging Het
Btbd16 A T 7: 130,407,549 (GRCm39) probably null Het
Cacna1h T C 17: 25,610,924 (GRCm39) K625E probably benign Het
Cdh23 T C 10: 60,150,473 (GRCm39) D2499G probably damaging Het
Cdhr2 A T 13: 54,873,707 (GRCm39) D687V probably damaging Het
Cops8 G T 1: 90,532,153 (GRCm39) L45F possibly damaging Het
D130043K22Rik A G 13: 25,071,843 (GRCm39) H929R probably damaging Het
Dnah12 A G 14: 26,492,962 (GRCm39) E1241G probably damaging Het
Dock4 T A 12: 40,780,040 (GRCm39) probably benign Het
Dsg1c A G 18: 20,380,518 (GRCm39) I8V probably benign Het
Dst T C 1: 34,281,701 (GRCm39) V5435A probably benign Het
Fat4 A G 3: 38,945,330 (GRCm39) I1408V probably benign Het
Foxp2 C A 6: 15,376,757 (GRCm39) probably benign Het
Fpgt T C 3: 154,792,359 (GRCm39) Q556R probably benign Het
Galntl6 T A 8: 58,230,328 (GRCm39) E30V probably damaging Het
Gemin4 A T 11: 76,104,311 (GRCm39) V150D probably benign Het
Grm8 C T 6: 27,762,460 (GRCm39) R255H probably damaging Het
Hapln3 G A 7: 78,767,184 (GRCm39) probably null Het
Htt T A 5: 35,055,916 (GRCm39) L2609Q probably damaging Het
Igdcc4 A G 9: 65,021,731 (GRCm39) probably benign Het
Isx T C 8: 75,619,306 (GRCm39) L166P probably benign Het
Kcnt2 G A 1: 140,498,155 (GRCm39) M884I probably benign Het
Leo1 A G 9: 75,373,524 (GRCm39) N650D probably benign Het
Man1a A G 10: 53,950,810 (GRCm39) V195A probably benign Het
Map2k5 A T 9: 63,200,988 (GRCm39) I215N probably damaging Het
Mier2 A G 10: 79,377,014 (GRCm39) *542R probably null Het
Mrgbp T A 2: 180,225,209 (GRCm39) F55Y probably damaging Het
Nadsyn1 A T 7: 143,362,527 (GRCm39) probably null Het
Nedd9 A T 13: 41,469,262 (GRCm39) Y630* probably null Het
Nrp1 T C 8: 129,145,188 (GRCm39) probably benign Het
Or4k15b A G 14: 50,272,770 (GRCm39) I30T probably benign Het
Or51q1c T A 7: 103,652,842 (GRCm39) M120K probably damaging Het
Or52z12 A G 7: 103,234,114 (GRCm39) N295S probably damaging Het
Or5w17 A T 2: 87,583,461 (GRCm39) L292Q probably damaging Het
Or7g21 T A 9: 19,032,895 (GRCm39) C212S probably benign Het
Pcnx1 A T 12: 81,953,239 (GRCm39) I127F probably damaging Het
Pik3ap1 T C 19: 41,364,329 (GRCm39) E130G possibly damaging Het
Pkd1l1 G T 11: 8,900,409 (GRCm39) T44N possibly damaging Het
Polr1c A G 17: 46,555,135 (GRCm39) S226P probably damaging Het
Pramel28 A C 4: 143,691,565 (GRCm39) V386G probably damaging Het
Prep A G 10: 45,029,208 (GRCm39) Y536C probably damaging Het
Ptprb A G 10: 116,179,820 (GRCm39) T1413A probably benign Het
Pwwp3a T A 10: 80,070,163 (GRCm39) probably null Het
Ryr2 T A 13: 11,756,922 (GRCm39) K1577N probably benign Het
Selplg G T 5: 113,957,529 (GRCm39) T33K probably damaging Het
Slc26a5 T A 5: 22,020,734 (GRCm39) I505L probably damaging Het
Slc39a6 T C 18: 24,718,413 (GRCm39) N548S probably damaging Het
Sp7 T C 15: 102,267,798 (GRCm39) T3A possibly damaging Het
Tango6 T C 8: 107,545,131 (GRCm39) V998A probably benign Het
Tas2r130 A T 6: 131,607,473 (GRCm39) Y107* probably null Het
Tjp2 T C 19: 24,078,139 (GRCm39) E918G probably damaging Het
Trim12a C T 7: 103,956,202 (GRCm39) A113T probably benign Het
Zan T A 5: 137,391,294 (GRCm39) D4730V unknown Het
Zfp607a A T 7: 27,578,109 (GRCm39) D393V probably damaging Het
Other mutations in Fhit
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Fhit APN 14 9,573,483 (GRCm38) missense probably benign 0.19
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
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
Posted On 2013-11-05