Incidental Mutation 'R3545:Otud4'
ID 268170
Institutional Source Beutler Lab
Gene Symbol Otud4
Ensembl Gene ENSMUSG00000036990
Gene Name OTU domain containing 4
Synonyms 4930431L18Rik, D8Ertd69e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R3545 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 80366305-80404384 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80391684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 443 (E443G)
Ref Sequence ENSEMBL: ENSMUSP00000134097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173078] [ENSMUST00000173286]
AlphaFold B2RRE7
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172614
Predicted Effect probably damaging
Transcript: ENSMUST00000173078
AA Change: E444G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133939
Gene: ENSMUSG00000036990
AA Change: E444G

DomainStartEndE-ValueType
Pfam:OTU 40 154 3.4e-17 PFAM
low complexity region 189 213 N/A INTRINSIC
Blast:TUDOR 280 335 2e-7 BLAST
low complexity region 392 405 N/A INTRINSIC
low complexity region 473 486 N/A INTRINSIC
low complexity region 543 555 N/A INTRINSIC
low complexity region 1014 1025 N/A INTRINSIC
low complexity region 1082 1104 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173286
AA Change: E443G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134097
Gene: ENSMUSG00000036990
AA Change: E443G

DomainStartEndE-ValueType
Pfam:OTU 40 149 5.3e-21 PFAM
low complexity region 189 213 N/A INTRINSIC
Blast:TUDOR 280 334 9e-9 BLAST
low complexity region 391 404 N/A INTRINSIC
low complexity region 472 485 N/A INTRINSIC
low complexity region 542 554 N/A INTRINSIC
low complexity region 1013 1024 N/A INTRINSIC
low complexity region 1081 1103 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174485
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alternatively spliced transcript variants have been found for this gene. The smaller protein isoform encoded by the shorter transcript variant is found only in HIV-1 infected cells. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 A G 14: 31,437,217 (GRCm39) L646S probably benign Het
Clip1 A G 5: 123,769,141 (GRCm39) L532P probably damaging Het
Efl1 A T 7: 82,412,018 (GRCm39) E802D probably benign Het
F11r T C 1: 171,288,829 (GRCm39) V149A probably damaging Het
Fhit T C 14: 9,870,095 (GRCm38) T125A probably benign Het
Fmn2 A G 1: 174,330,192 (GRCm39) D194G unknown Het
Gdi1 T A X: 73,351,414 (GRCm39) F175L possibly damaging Het
Herc3 T C 6: 58,833,670 (GRCm39) S186P probably damaging Het
Hexa A G 9: 59,464,581 (GRCm39) N157S probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Lig1 T A 7: 13,026,089 (GRCm39) N281K possibly damaging Het
Lrp1b A T 2: 40,490,300 (GRCm39) L287H probably damaging Het
Mcf2 T C X: 59,180,806 (GRCm39) K74R probably damaging Het
Nat1 A G 8: 67,943,684 (GRCm39) D23G possibly damaging Het
Nbeal1 T C 1: 60,317,939 (GRCm39) F1959L probably damaging Het
Ncf1 T A 5: 134,255,463 (GRCm39) K143* probably null Het
Nid2 T A 14: 19,813,779 (GRCm39) Y195N probably damaging Het
Nlrp9a T C 7: 26,256,757 (GRCm39) I125T probably benign Het
Nme7 T C 1: 164,213,351 (GRCm39) F343S probably damaging Het
Palld G T 8: 62,003,112 (GRCm39) A329E possibly damaging Het
Pask A T 1: 93,244,837 (GRCm39) V1095D probably damaging Het
Pdzd2 C T 15: 12,375,557 (GRCm39) R1526Q probably benign Het
Prkcq A G 2: 11,288,627 (GRCm39) K527E probably benign Het
Ramac T A 7: 81,418,270 (GRCm39) probably null Het
Reln A G 5: 22,432,598 (GRCm39) V134A possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Septin9 T C 11: 117,243,499 (GRCm39) I350T probably damaging Het
Slc16a7 T A 10: 125,130,569 (GRCm39) K39* probably null Het
Spata32 T C 11: 103,101,570 (GRCm39) E21G possibly damaging Het
Tbc1d1 G A 5: 64,443,350 (GRCm39) R523Q probably damaging Het
Thnsl1 T G 2: 21,217,438 (GRCm39) D397E probably benign Het
Tubal3 T G 13: 3,983,560 (GRCm39) *447G probably null Het
Uprt T A X: 103,526,934 (GRCm39) L123H probably damaging Het
Usp9x T C X: 12,994,629 (GRCm39) L940P probably benign Het
Other mutations in Otud4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Otud4 APN 8 80,399,510 (GRCm39) missense probably damaging 0.99
IGL01353:Otud4 APN 8 80,391,650 (GRCm39) missense probably benign
IGL01371:Otud4 APN 8 80,400,390 (GRCm39) missense probably damaging 1.00
IGL01782:Otud4 APN 8 80,399,640 (GRCm39) missense possibly damaging 0.95
IGL01912:Otud4 APN 8 80,400,466 (GRCm39) missense probably benign
IGL02294:Otud4 APN 8 80,391,606 (GRCm39) splice site probably benign
IGL02830:Otud4 APN 8 80,399,930 (GRCm39) missense probably benign 0.00
IGL03063:Otud4 APN 8 80,390,419 (GRCm39) missense probably benign 0.01
IGL03077:Otud4 APN 8 80,400,087 (GRCm39) missense probably damaging 0.97
R0437:Otud4 UTSW 8 80,396,626 (GRCm39) missense probably benign 0.02
R1024:Otud4 UTSW 8 80,390,722 (GRCm39) missense probably benign 0.01
R1118:Otud4 UTSW 8 80,379,980 (GRCm39) splice site probably benign
R1296:Otud4 UTSW 8 80,400,603 (GRCm39) missense unknown
R1321:Otud4 UTSW 8 80,396,579 (GRCm39) missense probably benign 0.03
R1674:Otud4 UTSW 8 80,399,776 (GRCm39) missense probably benign 0.12
R1736:Otud4 UTSW 8 80,378,294 (GRCm39) splice site probably benign
R1815:Otud4 UTSW 8 80,366,618 (GRCm39) nonsense probably null
R1950:Otud4 UTSW 8 80,372,961 (GRCm39) missense probably damaging 0.99
R1985:Otud4 UTSW 8 80,366,641 (GRCm39) missense probably damaging 1.00
R2173:Otud4 UTSW 8 80,395,093 (GRCm39) missense probably damaging 1.00
R2869:Otud4 UTSW 8 80,387,702 (GRCm39) missense possibly damaging 0.82
R2869:Otud4 UTSW 8 80,387,702 (GRCm39) missense possibly damaging 0.82
R2870:Otud4 UTSW 8 80,387,702 (GRCm39) missense possibly damaging 0.82
R2870:Otud4 UTSW 8 80,387,702 (GRCm39) missense possibly damaging 0.82
R2872:Otud4 UTSW 8 80,387,702 (GRCm39) missense possibly damaging 0.82
R2872:Otud4 UTSW 8 80,387,702 (GRCm39) missense possibly damaging 0.82
R2907:Otud4 UTSW 8 80,399,697 (GRCm39) missense probably benign 0.02
R4628:Otud4 UTSW 8 80,366,597 (GRCm39) missense possibly damaging 0.73
R4790:Otud4 UTSW 8 80,393,402 (GRCm39) missense possibly damaging 0.82
R4989:Otud4 UTSW 8 80,382,318 (GRCm39) missense probably damaging 1.00
R5133:Otud4 UTSW 8 80,382,318 (GRCm39) missense probably damaging 1.00
R5134:Otud4 UTSW 8 80,382,318 (GRCm39) missense probably damaging 1.00
R5294:Otud4 UTSW 8 80,399,521 (GRCm39) missense possibly damaging 0.54
R5410:Otud4 UTSW 8 80,399,626 (GRCm39) missense probably benign 0.04
R5454:Otud4 UTSW 8 80,377,671 (GRCm39) missense possibly damaging 0.94
R5579:Otud4 UTSW 8 80,390,737 (GRCm39) missense probably benign
R5738:Otud4 UTSW 8 80,400,090 (GRCm39) missense probably benign 0.02
R5886:Otud4 UTSW 8 80,399,436 (GRCm39) missense probably damaging 1.00
R6062:Otud4 UTSW 8 80,400,525 (GRCm39) missense probably damaging 1.00
R6364:Otud4 UTSW 8 80,372,970 (GRCm39) missense probably damaging 0.99
R6427:Otud4 UTSW 8 80,395,126 (GRCm39) missense probably benign 0.00
R6450:Otud4 UTSW 8 80,399,626 (GRCm39) missense probably benign 0.04
R6744:Otud4 UTSW 8 80,400,407 (GRCm39) nonsense probably null
R6773:Otud4 UTSW 8 80,370,435 (GRCm39) missense possibly damaging 0.95
R7046:Otud4 UTSW 8 80,377,671 (GRCm39) missense possibly damaging 0.94
R7142:Otud4 UTSW 8 80,399,391 (GRCm39) splice site probably null
R7420:Otud4 UTSW 8 80,390,737 (GRCm39) missense probably benign 0.11
R7470:Otud4 UTSW 8 80,399,989 (GRCm39) missense probably benign 0.00
R7670:Otud4 UTSW 8 80,382,493 (GRCm39) splice site probably null
R7736:Otud4 UTSW 8 80,382,394 (GRCm39) missense possibly damaging 0.53
R8229:Otud4 UTSW 8 80,400,604 (GRCm39) missense unknown
R8397:Otud4 UTSW 8 80,395,927 (GRCm39) missense probably benign 0.06
R8520:Otud4 UTSW 8 80,385,896 (GRCm39) missense probably damaging 1.00
R9041:Otud4 UTSW 8 80,400,441 (GRCm39) missense probably damaging 0.98
R9291:Otud4 UTSW 8 80,372,952 (GRCm39) missense probably damaging 1.00
R9495:Otud4 UTSW 8 80,400,087 (GRCm39) missense probably damaging 1.00
R9502:Otud4 UTSW 8 80,400,480 (GRCm39) missense probably benign 0.01
X0024:Otud4 UTSW 8 80,372,939 (GRCm39) missense probably benign 0.01
Z1176:Otud4 UTSW 8 80,385,558 (GRCm39) missense probably benign
Z1177:Otud4 UTSW 8 80,370,441 (GRCm39) missense probably damaging 0.99
Z1177:Otud4 UTSW 8 80,370,440 (GRCm39) nonsense probably null
Z1177:Otud4 UTSW 8 80,391,656 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- TCTCGGTGTAGCTCGTTCAG -3'
(R):5'- GTGATGACAAGCACACAGAATC -3'

Sequencing Primer
(F):5'- AGCTCGTTCAGTTGGCTG -3'
(R):5'- GTTTGAAAATGTAAGTCCACCACCTG -3'
Posted On 2015-02-19