Incidental Mutation 'R2907:Otud4'
ID 261694
Institutional Source Beutler Lab
Gene Symbol Otud4
Ensembl Gene ENSMUSG00000036990
Gene Name OTU domain containing 4
Synonyms 4930431L18Rik, D8Ertd69e
MMRRC Submission 040494-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R2907 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 80366305-80404384 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80399697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 803 (S803T)
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 benign
Transcript: ENSMUST00000173078
AA Change: S804T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000133939
Gene: ENSMUSG00000036990
AA Change: S804T

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 benign
Transcript: ENSMUST00000173286
AA Change: S803T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000134097
Gene: ENSMUSG00000036990
AA Change: S803T

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: ENSMUST00000174485
Meta Mutation Damage Score 0.0587 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 97% (37/38)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,565,559 (GRCm39) E385G probably damaging Het
Adam32 A T 8: 25,353,520 (GRCm39) W690R probably damaging Het
Ap1b1 T A 11: 4,981,641 (GRCm39) N516K probably damaging Het
Arap3 G A 18: 38,123,580 (GRCm39) P452L possibly damaging Het
Armcx6 A T X: 133,650,199 (GRCm39) C211S probably damaging Het
Asns A G 6: 7,675,506 (GRCm39) S499P probably benign Het
Aspn G T 13: 49,705,374 (GRCm39) V79F probably damaging Het
Astn2 A G 4: 65,563,093 (GRCm39) I844T possibly damaging Het
Asxl3 A T 18: 22,650,330 (GRCm39) H773L possibly damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Bcl6 G A 16: 23,786,869 (GRCm39) R641W probably damaging Het
Csmd3 T A 15: 47,874,449 (GRCm39) I612F probably damaging Het
Dnm1l A T 16: 16,132,175 (GRCm39) S666T probably damaging Het
Gucy2c A T 6: 136,685,385 (GRCm39) V852E probably damaging Het
H2-T3 G A 17: 36,498,347 (GRCm39) R233C possibly damaging Het
Igfbp4 A G 11: 98,932,377 (GRCm39) probably benign Het
Igkv16-104 T C 6: 68,402,911 (GRCm39) I68T probably damaging Het
Kansl1 T A 11: 104,315,286 (GRCm39) S251C possibly damaging Het
Kcnk1 G T 8: 126,722,538 (GRCm39) V114L probably benign Het
Klra3 G T 6: 130,310,302 (GRCm39) Q73K probably damaging Het
Mcpt1 T C 14: 56,257,580 (GRCm39) V242A probably damaging Het
Nek10 C A 14: 14,980,613 (GRCm38) Q990K possibly damaging Het
Nlrp4d A T 7: 10,112,354 (GRCm39) V605E probably benign Het
Or10w1 C T 19: 13,632,611 (GRCm39) P268S possibly damaging Het
Or5an1b T C 19: 12,300,032 (GRCm39) D53G probably damaging Het
Or5d46 T C 2: 88,170,827 (GRCm39) I306T probably benign Het
Osbpl1a A G 18: 13,004,129 (GRCm39) probably benign Het
Pax9 C T 12: 56,756,529 (GRCm39) T289I probably benign Het
Pcdha5 A C 18: 37,093,868 (GRCm39) I126L possibly damaging Het
Psmd4 G T 3: 94,941,273 (GRCm39) A55E probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Sdr42e1 G A 8: 118,389,511 (GRCm39) L377F probably damaging Het
Setdb1 T C 3: 95,234,512 (GRCm39) probably benign Het
Uba3 T C 6: 97,180,514 (GRCm39) E21G probably benign Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Zfp113 T C 5: 138,143,219 (GRCm39) N344D probably benign Het
Zfp738 T C 13: 67,818,231 (GRCm39) I587V 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
R3545:Otud4 UTSW 8 80,391,684 (GRCm39) missense probably damaging 1.00
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'- CTGCAGGATGTACCCAAAGG -3'
(R):5'- GGATACCCATACCAAACATGAGGG -3'

Sequencing Primer
(F):5'- GGATGTACCCAAAGGTCCCTGTTC -3'
(R):5'- CCCATACCAAACATGAGGGAAGAAAG -3'
Posted On 2015-01-23