Incidental Mutation 'R9225:Otud7a'
ID 699781
Institutional Source Beutler Lab
Gene Symbol Otud7a
Ensembl Gene ENSMUSG00000033510
Gene Name OTU domain containing 7A
Synonyms Cezanne 2 protein, Otud7
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R9225 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 63094499-63408776 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63407469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 591 (T591A)
Ref Sequence ENSEMBL: ENSMUSP00000057282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058476] [ENSMUST00000177511] [ENSMUST00000177534]
AlphaFold Q8R554
Predicted Effect possibly damaging
Transcript: ENSMUST00000058476
AA Change: T591A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000057282
Gene: ENSMUSG00000033510
AA Change: T591A

DomainStartEndE-ValueType
PDB:2L2D|A 11 82 4e-43 PDB
Pfam:OTU 207 371 1.5e-26 PFAM
low complexity region 478 510 N/A INTRINSIC
low complexity region 527 547 N/A INTRINSIC
low complexity region 559 581 N/A INTRINSIC
low complexity region 583 595 N/A INTRINSIC
low complexity region 679 691 N/A INTRINSIC
low complexity region 730 777 N/A INTRINSIC
low complexity region 834 844 N/A INTRINSIC
low complexity region 865 872 N/A INTRINSIC
Pfam:zf-A20 888 912 4.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177511
SMART Domains Protein: ENSMUSP00000134821
Gene: ENSMUSG00000033510

DomainStartEndE-ValueType
transmembrane domain 36 55 N/A INTRINSIC
low complexity region 56 89 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000135559
Gene: ENSMUSG00000033510
AA Change: T597A

DomainStartEndE-ValueType
Pfam:UBA_4 28 66 2e-7 PFAM
Pfam:OTU 206 377 5.7e-32 PFAM
low complexity region 484 516 N/A INTRINSIC
low complexity region 533 553 N/A INTRINSIC
low complexity region 565 587 N/A INTRINSIC
low complexity region 589 601 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a deubiquitinizing enzyme and possible tumor suppressor. The encoded protein acts on TNF receptor associated factor 6 (TRAF6) to control nuclear factor kappa B expression. However, this gene is downregulated by SNAIL1 in hepatocellular carcinoma cells, contributing to their progression and malignancy. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body weight, abnormal spike wave discharge, decreased dendritic spine density, decreased prepulse inhibition, impaired coordination, decreased grip strength, decreased startle reflex, impaired ultrasonic vocalization and delayed tooth eruption. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik G T 5: 88,120,433 (GRCm39) V397L probably benign Het
Adam26b G T 8: 43,973,453 (GRCm39) Y516* probably null Het
Afap1 A G 5: 36,133,968 (GRCm39) K468E possibly damaging Het
Ank2 A G 3: 126,736,111 (GRCm39) S3258P unknown Het
Ap1g1 A G 8: 110,585,509 (GRCm39) K783E probably benign Het
Apbb1 A G 7: 105,218,063 (GRCm39) S20P Het
Atg13 T C 2: 91,519,128 (GRCm39) probably null Het
Atg16l2 A G 7: 100,951,188 (GRCm39) V16A probably benign Het
Atp11a G A 8: 12,867,005 (GRCm39) R144Q probably benign Het
Avpr1a A T 10: 122,285,466 (GRCm39) T253S probably benign Het
B4galnt3 T C 6: 120,195,928 (GRCm39) T300A probably damaging Het
Bag4 A G 8: 26,261,270 (GRCm39) V157A probably benign Het
Brsk2 A G 7: 141,547,039 (GRCm39) H494R probably damaging Het
Cacna2d2 G A 9: 107,403,403 (GRCm39) G955S probably benign Het
Ccdc42 A T 11: 68,479,061 (GRCm39) E83V probably damaging Het
Cep120 T C 18: 53,839,896 (GRCm39) Q788R probably benign Het
Cnbd1 A G 4: 18,907,010 (GRCm39) I188T probably benign Het
Col6a6 C T 9: 105,659,437 (GRCm39) E503K possibly damaging Het
Cpt1c A T 7: 44,610,213 (GRCm39) L661H probably damaging Het
Cyp2a22 T C 7: 26,637,202 (GRCm39) D194G possibly damaging Het
Cyp2c70 C A 19: 40,168,912 (GRCm39) R125L probably damaging Het
Cyp3a41a A T 5: 145,650,414 (GRCm39) D76E probably benign Het
Cyp4f13 A T 17: 33,144,319 (GRCm39) I458N probably damaging Het
Cyp4f13 T C 17: 33,148,175 (GRCm39) Q350R probably damaging Het
Ddx60 G A 8: 62,470,875 (GRCm39) V1456I probably benign Het
Dgkh T C 14: 78,962,507 (GRCm39) H8R probably damaging Het
Diaph3 A G 14: 87,244,760 (GRCm39) probably null Het
Dnah8 A C 17: 30,854,647 (GRCm39) D103A probably benign Het
Dock4 G A 12: 40,879,669 (GRCm39) R1551Q probably benign Het
Eps8 A T 6: 137,507,561 (GRCm39) S56T probably benign Het
Fam171b T A 2: 83,710,386 (GRCm39) L686Q probably damaging Het
Fndc3b A C 3: 27,510,680 (GRCm39) L814* probably null Het
Gcnt2 T A 13: 41,014,336 (GRCm39) L169Q probably damaging Het
Gm21103 T A 14: 17,484,877 (GRCm39) I56F possibly damaging Het
Gpc1 A T 1: 92,783,742 (GRCm39) K276N probably damaging Het
Hivep1 T A 13: 42,337,184 (GRCm39) V2421D probably damaging Het
Hoxb1 T C 11: 96,257,119 (GRCm39) L156P probably benign Het
Ifi208 A G 1: 173,518,294 (GRCm39) D467G possibly damaging Het
Klhl22 A G 16: 17,594,617 (GRCm39) M249V probably damaging Het
Kmt2b A G 7: 30,286,172 (GRCm39) V240A unknown Het
Lacc1 A T 14: 77,272,414 (GRCm39) Y127* probably null Het
Lgr4 C A 2: 109,842,485 (GRCm39) H823Q probably benign Het
Llgl1 T C 11: 60,600,889 (GRCm39) S662P probably damaging Het
Lrrc1 G A 9: 77,359,955 (GRCm39) T279I probably benign Het
Lrrc8e T A 8: 4,284,561 (GRCm39) V262E probably damaging Het
Magi1 G T 6: 93,762,511 (GRCm39) P292T possibly damaging Het
Mccc1 T A 3: 36,018,511 (GRCm39) I608F probably benign Het
Mroh8 T A 2: 157,107,010 (GRCm39) I220L probably damaging Het
Mtcl3 A T 10: 29,072,327 (GRCm39) K540* probably null Het
Mycn C A 12: 12,987,609 (GRCm39) D263Y probably damaging Het
Myrip A G 9: 120,293,850 (GRCm39) K782E probably damaging Het
Ncoa6 T A 2: 155,249,441 (GRCm39) I1288F possibly damaging Het
Nebl A G 2: 17,405,322 (GRCm39) I399T possibly damaging Het
Neurod1 A T 2: 79,284,731 (GRCm39) H217Q probably benign Het
Nlrp5 T C 7: 23,117,371 (GRCm39) V365A probably benign Het
Or1e1 C A 11: 73,244,595 (GRCm39) N5K probably damaging Het
Or2ag12 A G 7: 106,276,976 (GRCm39) V239A probably benign Het
Or5b100-ps1 G C 19: 12,994,371 (GRCm39) *261Y probably null Het
Or5b100-ps1 A G 19: 12,994,370 (GRCm39) *261W probably null Het
Pbx3 T C 2: 34,260,938 (GRCm39) probably benign Het
Pcdhb4 A T 18: 37,441,695 (GRCm39) Q335L possibly damaging Het
Plxnc1 C A 10: 94,629,061 (GRCm39) C1571F probably damaging Het
Pola2 G A 19: 6,000,492 (GRCm39) P330S probably benign Het
Ppm1l A T 3: 69,460,244 (GRCm39) N274Y probably benign Het
Ppp4r3b A G 11: 29,155,648 (GRCm39) D538G possibly damaging Het
Ptx4 C T 17: 25,341,696 (GRCm39) T57I probably benign Het
Rchy1 A T 5: 92,105,396 (GRCm39) C108* probably null Het
Rif1 A G 2: 52,001,862 (GRCm39) E130G probably benign Het
Rmdn1 A T 4: 19,601,385 (GRCm39) Y219F probably damaging Het
Rnf144a A G 12: 26,377,606 (GRCm39) C46R probably damaging Het
Rpl13a C A 7: 44,775,627 (GRCm39) G146V probably damaging Het
Rpl13a C A 7: 44,775,628 (GRCm39) G146W probably damaging Het
Rtn3 A T 19: 7,434,854 (GRCm39) N379K probably damaging Het
Sdc1 G T 12: 8,821,817 (GRCm39) R19L unknown Het
Shank1 A G 7: 43,983,470 (GRCm39) I651V unknown Het
Slamf6 T C 1: 171,764,270 (GRCm39) V221A probably benign Het
Sp9 C A 2: 73,103,839 (GRCm39) S131* probably null Het
Spen T C 4: 141,202,943 (GRCm39) T1895A possibly damaging Het
Taf6l CGCAGCCGCACCTG CG 19: 8,751,688 (GRCm39) probably benign Het
Thada G T 17: 84,749,172 (GRCm39) H600N possibly damaging Het
Trmt11 G T 10: 30,423,753 (GRCm39) P384Q probably damaging Het
Tsnaxip1 T C 8: 106,566,659 (GRCm39) L165P probably damaging Het
Ttc7 A G 17: 87,637,502 (GRCm39) Y419C probably damaging Het
Ugt1a6a T C 1: 88,066,560 (GRCm39) F122S probably benign Het
Vmn1r218 G A 13: 23,320,824 (GRCm39) C57Y probably benign Het
Vmn2r14 T C 5: 109,369,288 (GRCm39) N95S probably damaging Het
Vmn2r2 G T 3: 64,034,021 (GRCm39) H500Q probably benign Het
Vmn2r70 T A 7: 85,208,242 (GRCm39) Y745F probably damaging Het
Zfp189 C T 4: 49,530,193 (GRCm39) S432F probably benign Het
Zscan2 C T 7: 80,513,021 (GRCm39) A2V probably damaging Het
Other mutations in Otud7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0026:Otud7a UTSW 7 63,385,549 (GRCm39) missense probably benign 0.32
R0241:Otud7a UTSW 7 63,346,992 (GRCm39) splice site probably benign
R0576:Otud7a UTSW 7 63,335,266 (GRCm39) missense possibly damaging 0.93
R0594:Otud7a UTSW 7 63,377,220 (GRCm39) nonsense probably null
R0611:Otud7a UTSW 7 63,385,638 (GRCm39) missense possibly damaging 0.84
R1473:Otud7a UTSW 7 63,404,377 (GRCm39) splice site probably benign
R1519:Otud7a UTSW 7 63,408,391 (GRCm39) missense probably damaging 1.00
R1694:Otud7a UTSW 7 63,383,458 (GRCm39) missense probably damaging 1.00
R1941:Otud7a UTSW 7 63,379,574 (GRCm39) nonsense probably null
R1952:Otud7a UTSW 7 63,300,624 (GRCm39) missense probably damaging 0.96
R2199:Otud7a UTSW 7 63,407,404 (GRCm39) missense possibly damaging 0.53
R2404:Otud7a UTSW 7 63,346,899 (GRCm39) missense probably benign 0.20
R4238:Otud7a UTSW 7 63,300,702 (GRCm39) missense probably damaging 1.00
R4239:Otud7a UTSW 7 63,300,702 (GRCm39) missense probably damaging 1.00
R4294:Otud7a UTSW 7 63,346,939 (GRCm39) missense probably damaging 0.99
R4512:Otud7a UTSW 7 63,379,625 (GRCm39) missense probably benign 0.32
R4748:Otud7a UTSW 7 63,385,663 (GRCm39) missense possibly damaging 0.73
R4815:Otud7a UTSW 7 63,379,658 (GRCm39) critical splice donor site probably null
R4942:Otud7a UTSW 7 63,407,171 (GRCm39) missense probably damaging 0.99
R5249:Otud7a UTSW 7 63,407,181 (GRCm39) missense possibly damaging 0.53
R5332:Otud7a UTSW 7 63,385,574 (GRCm39) missense probably damaging 0.98
R5438:Otud7a UTSW 7 63,407,207 (GRCm39) missense unknown
R6185:Otud7a UTSW 7 63,408,133 (GRCm39) missense probably damaging 0.99
R7099:Otud7a UTSW 7 63,407,203 (GRCm39) missense possibly damaging 0.72
R7893:Otud7a UTSW 7 63,408,300 (GRCm39) missense probably damaging 1.00
R8154:Otud7a UTSW 7 63,407,612 (GRCm39) missense probably benign 0.18
R8930:Otud7a UTSW 7 63,407,239 (GRCm39) missense possibly damaging 0.85
R8932:Otud7a UTSW 7 63,407,239 (GRCm39) missense possibly damaging 0.85
R9792:Otud7a UTSW 7 63,378,845 (GRCm39) missense probably damaging 0.99
R9793:Otud7a UTSW 7 63,378,845 (GRCm39) missense probably damaging 0.99
Z1176:Otud7a UTSW 7 63,408,448 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ACGCTGGGCATCAAGCTAAAG -3'
(R):5'- GGTAGTAGCCGATCATCTCCTC -3'

Sequencing Primer
(F):5'- CTGGGCATCAAGCTAAAGAAAAAC -3'
(R):5'- GATCATCTCCTCGTGAAACTGGTG -3'
Posted On 2022-02-07