Incidental Mutation 'R0084:Htatip2'
ID19808
Institutional Source Beutler Lab
Gene Symbol Htatip2
Ensembl Gene ENSMUSG00000039745
Gene NameHIV-1 Tat interactive protein 2
SynonymsTIP30
MMRRC Submission 038371-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.563) question?
Stock #R0084 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location49759115-49773975 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 49759672 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 58 (G58D)
Ref Sequence ENSEMBL: ENSMUSP00000146858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085272] [ENSMUST00000207895]
Predicted Effect probably damaging
Transcript: ENSMUST00000085272
AA Change: G25D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082374
Gene: ENSMUSG00000039745
AA Change: G25D

DomainStartEndE-ValueType
Pfam:Semialdhyde_dh 20 116 2.1e-8 PFAM
Pfam:NAD_binding_10 46 214 2.4e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207895
AA Change: G58D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208048
Meta Mutation Damage Score 0.9573 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.0%
  • 10x: 94.5%
  • 20x: 86.0%
Validation Efficiency 99% (77/78)
MGI Phenotype PHENOTYPE: Inactivation of this gene increases susceptibility to tumorigenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931417E11Rik A T 6: 73,468,935 Y210* probably null Het
Abca8a A G 11: 110,036,597 probably benign Het
Abcc9 A G 6: 142,658,551 Y653H probably damaging Het
Acpp A T 9: 104,314,365 S241T probably benign Het
Acvr1 A G 2: 58,458,883 probably null Het
Adgb T C 10: 10,396,344 N832S possibly damaging Het
AI182371 A G 2: 35,085,702 probably null Het
Anapc1 G A 2: 128,623,966 probably benign Het
Apba1 T C 19: 23,912,497 S420P possibly damaging Het
Ass1 A T 2: 31,514,819 N371Y probably damaging Het
BC025446 T A 15: 75,217,775 M44K probably benign Het
Bpifb2 A T 2: 153,891,091 M365L probably benign Het
Btnl9 A T 11: 49,178,779 N224K possibly damaging Het
Cntn1 A T 15: 92,317,917 I944L probably benign Het
Cpa3 T C 3: 20,242,101 probably benign Het
Dcaf11 C T 14: 55,569,243 R468C probably benign Het
E4f1 T C 17: 24,444,082 T750A possibly damaging Het
Ercc5 A G 1: 44,175,976 K890E possibly damaging Het
Fbrsl1 A G 5: 110,379,515 L262P probably damaging Het
Flnb A G 14: 7,935,979 D2273G probably benign Het
Gm14085 A G 2: 122,522,833 Y498C possibly damaging Het
Gm9848 A T 13: 113,108,242 noncoding transcript Het
Hcrtr1 T A 4: 130,137,266 H75L possibly damaging Het
Heatr9 A T 11: 83,512,895 probably benign Het
Lmntd1 G A 6: 145,404,528 H234Y unknown Het
Map4k3 T C 17: 80,655,914 K85E possibly damaging Het
Moxd2 T C 6: 40,879,408 D510G probably null Het
Mpv17l2 A T 8: 70,764,545 probably benign Het
Nbeal2 A G 9: 110,643,710 probably null Het
Ncapd3 A G 9: 27,056,111 D581G probably damaging Het
Ndufb5 T C 3: 32,737,203 V33A probably benign Het
Olfr517 A T 7: 108,868,800 M118K probably damaging Het
Osbpl1a T C 18: 12,757,612 T524A probably benign Het
Otogl A C 10: 107,901,341 S71A probably damaging Het
Ovol2 G T 2: 144,305,888 N180K probably damaging Het
Pam A G 1: 97,896,049 V219A probably benign Het
Paox C T 7: 140,132,446 R197* probably null Het
Pax2 T A 19: 44,818,435 Y290N probably damaging Het
Pik3ca T C 3: 32,462,788 M933T possibly damaging Het
Ppfia4 G T 1: 134,299,426 R1124S possibly damaging Het
Prkch T C 12: 73,697,987 F258S possibly damaging Het
Rhob G A 12: 8,499,107 R176C probably benign Het
Sbf2 A T 7: 110,442,366 I326N possibly damaging Het
Scgb2b2 A T 7: 31,303,616 E45D probably benign Het
Scube3 T A 17: 28,162,961 D320E probably benign Het
Serpina1f A G 12: 103,693,588 V145A possibly damaging Het
Slc6a5 A C 7: 49,930,013 I380L probably benign Het
Spag16 A G 1: 69,996,839 N342S probably benign Het
Spata16 A G 3: 26,667,410 T27A possibly damaging Het
Spock3 A C 8: 63,143,929 K89T probably damaging Het
Tbc1d1 T C 5: 64,324,454 V795A probably damaging Het
Tirap G T 9: 35,189,162 H75Q probably benign Het
Tpk1 C A 6: 43,346,829 V229L possibly damaging Het
Tshz2 A G 2: 169,884,366 H294R probably damaging Het
Ttn A T 2: 76,872,699 probably benign Het
Unc13d C T 11: 116,063,831 V984M probably damaging Het
Zbtb43 A T 2: 33,453,984 Y373N probably damaging Het
Zfp646 T A 7: 127,881,304 H884Q possibly damaging Het
Other mutations in Htatip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Htatip2 APN 7 49770949 critical splice donor site probably null
IGL01417:Htatip2 APN 7 49770825 missense possibly damaging 0.61
IGL03095:Htatip2 APN 7 49759774 missense probably benign 0.01
R0349:Htatip2 UTSW 7 49773392 missense probably benign 0.00
R0631:Htatip2 UTSW 7 49773311 missense possibly damaging 0.84
R4612:Htatip2 UTSW 7 49772597 nonsense probably null
R4688:Htatip2 UTSW 7 49773423 missense probably damaging 1.00
R4715:Htatip2 UTSW 7 49770844 missense probably damaging 1.00
R6074:Htatip2 UTSW 7 49772574 critical splice acceptor site probably null
R6207:Htatip2 UTSW 7 49770819 missense probably benign 0.00
R6862:Htatip2 UTSW 7 49770918 missense probably benign 0.00
R7016:Htatip2 UTSW 7 49770835 missense possibly damaging 0.64
R7225:Htatip2 UTSW 7 49770856 missense possibly damaging 0.74
R7242:Htatip2 UTSW 7 49772606 missense probably benign 0.00
R7408:Htatip2 UTSW 7 49759786 missense probably benign 0.22
R7452:Htatip2 UTSW 7 49773326 missense probably benign 0.01
R7718:Htatip2 UTSW 7 49770884 missense possibly damaging 0.54
Predicted Primers PCR Primer
(F):5'- TCTGAGCTGTGACTCAGCACTTCC -3'
(R):5'- GCCTTTGGATAATGGACACCTTCCC -3'

Sequencing Primer
(F):5'- GACTGTGTAGAGTGAGTCTCTTC -3'
(R):5'- GATAATGGACACCTTCCCCTCAG -3'
Posted On2013-04-11