Incidental Mutation 'R7016:Htatip2'
ID545301
Institutional Source Beutler Lab
Gene Symbol Htatip2
Ensembl Gene ENSMUSG00000039745
Gene NameHIV-1 Tat interactive protein 2
SynonymsTIP30
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.541) question?
Stock #R7016 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location49759115-49773975 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 49770835 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 143 (D143G)
Ref Sequence ENSEMBL: ENSMUSP00000146858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085272] [ENSMUST00000207895]
Predicted Effect possibly damaging
Transcript: ENSMUST00000085272
AA Change: D110G

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000082374
Gene: ENSMUSG00000039745
AA Change: D110G

DomainStartEndE-ValueType
Pfam:Semialdhyde_dh 20 116 2.1e-8 PFAM
Pfam:NAD_binding_10 46 214 2.4e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000207895
AA Change: D143G

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810043G02Rik T A 10: 77,982,956 C154S probably benign Het
Abcb4 T A 5: 8,936,843 V754D probably benign Het
Actn1 T A 12: 80,172,968 M710L possibly damaging Het
Adam1a A G 5: 121,521,038 F64S probably benign Het
Aip G T 19: 4,121,402 D11E probably benign Het
Ak7 T A 12: 105,781,679 Y714* probably null Het
Amhr2 A G 15: 102,454,364 E522G possibly damaging Het
Amotl1 A G 9: 14,593,699 L108P probably damaging Het
Arhgef17 A G 7: 100,878,977 S677P probably benign Het
Atp11b T C 3: 35,841,036 S908P probably benign Het
Atp13a3 C A 16: 30,338,490 V903L possibly damaging Het
Bcam G A 7: 19,758,443 R576* probably null Het
Btbd2 A G 10: 80,648,615 S141P probably damaging Het
Cacna1b T C 2: 24,762,848 N67S possibly damaging Het
Cc2d2b A G 19: 40,795,804 T872A possibly damaging Het
Ccdc24 T A 4: 117,871,116 I144F probably null Het
Cep44 A T 8: 56,544,199 F101L possibly damaging Het
Disp1 C A 1: 183,087,466 R1130L probably damaging Het
Dnajc21 G T 15: 10,461,407 Y152* probably null Het
Edem2 A G 2: 155,716,072 F214L possibly damaging Het
Fam118b G A 9: 35,223,718 R198W probably damaging Het
Fam208b A T 13: 3,576,857 V1031E possibly damaging Het
Fgb A G 3: 83,046,064 V133A probably benign Het
Fsip2 A G 2: 82,990,635 T5571A probably benign Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 142,240,817 probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,266,277 probably benign Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,266,278 probably benign Het
Hnf4a T A 2: 163,564,273 Y277N probably damaging Het
Itgae A G 11: 73,119,516 N611D probably damaging Het
Ksr1 A T 11: 79,027,536 N515K probably damaging Het
Lrp1 C A 10: 127,559,967 probably null Het
Map3k20 T A 2: 72,378,635 V195D probably damaging Het
Meox2 A G 12: 37,109,224 S132G probably benign Het
Mmp1a TG TGG 9: 7,465,083 probably null Het
Nell2 T A 15: 95,229,151 N781I possibly damaging Het
Odf3l2 T C 10: 79,639,956 Y258C probably damaging Het
Olfr106-ps G A 17: 37,395,203 G221D possibly damaging Het
Olfr513 A G 7: 108,755,711 N285S probably damaging Het
Olfr535 A G 7: 140,493,240 T201A probably benign Het
Olfr631 A G 7: 103,929,530 I236V probably benign Het
Otoa A T 7: 121,147,766 Q918L probably damaging Het
Palld T G 8: 61,515,998 K1022T probably damaging Het
Parp8 A T 13: 116,895,091 S362T probably damaging Het
Phrf1 A G 7: 141,237,563 E95G probably damaging Het
Pls1 A T 9: 95,786,941 F76I probably damaging Het
Ptdss1 A C 13: 66,972,621 M294L probably benign Het
Rictor T A 15: 6,774,880 probably null Het
Rilp A G 11: 75,510,919 E175G probably damaging Het
Serpina16 T A 12: 103,675,371 T32S probably benign Het
Sim1 C T 10: 50,984,250 S736L probably benign Het
Smtn A G 11: 3,530,368 probably null Het
Sspo T A 6: 48,449,164 W98R probably damaging Het
St8sia3 A T 18: 64,269,583 I98F probably benign Het
Tbc1d4 T A 14: 101,487,441 N580I probably damaging Het
Trim12c A T 7: 104,348,206 C48S Het
Tsc22d1 C A 14: 76,417,542 T405K probably damaging Het
Tubgcp5 A G 7: 55,794,229 D2G possibly damaging Het
Wwc2 T C 8: 47,847,548 E960G unknown Het
Zbtb2 G C 10: 4,368,646 P460R probably damaging Het
Zfp62 T G 11: 49,215,937 I285S probably 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
R0084:Htatip2 UTSW 7 49759672 missense probably damaging 1.00
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
R7225:Htatip2 UTSW 7 49770856 missense possibly damaging 0.74
R7242:Htatip2 UTSW 7 49772606 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGCTTTCGACTATGGCTTAAATG -3'
(R):5'- CCCAAAACAGTCCTCATAGCTTTG -3'

Sequencing Primer
(F):5'- ATGCATTTCACTTAGAACCCCG -3'
(R):5'- ACAGTCCTCATAGCTTTGAAAAAC -3'
Posted On2019-05-13