Incidental Mutation 'R2173:Otud4'
ID 237624
Institutional Source Beutler Lab
Gene Symbol Otud4
Ensembl Gene ENSMUSG00000036990
Gene Name OTU domain containing 4
Synonyms 4930431L18Rik, D8Ertd69e
MMRRC Submission 040175-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R2173 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 80366305-80404384 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80395093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 543 (S543P)
Ref Sequence ENSEMBL: ENSMUSP00000133939 (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: S543P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133939
Gene: ENSMUSG00000036990
AA Change: S543P

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 possibly damaging
Transcript: ENSMUST00000173286
AA Change: S542P

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134097
Gene: ENSMUSG00000036990
AA Change: S542P

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 0.0988 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (66/68)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 T A 3: 127,477,239 (GRCm39) H273L probably damaging Het
Alpk3 A G 7: 80,726,648 (GRCm39) Y111C probably damaging Het
Anapc2 T G 2: 25,163,288 (GRCm39) V175G probably benign Het
Arhgap30 T C 1: 171,235,335 (GRCm39) S570P probably damaging Het
AU040320 T C 4: 126,686,069 (GRCm39) L215P probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Ccdc65 A G 15: 98,618,914 (GRCm39) N298D probably benign Het
Cfap70 T A 14: 20,458,630 (GRCm39) N727Y probably benign Het
Clcn7 A G 17: 25,364,583 (GRCm39) H63R probably benign Het
Corin A T 5: 72,661,422 (GRCm39) C24S probably benign Het
Cyp1a2 A G 9: 57,584,798 (GRCm39) W419R probably damaging Het
Dlgap4 C A 2: 156,604,732 (GRCm39) A256D probably damaging Het
Eif4enif1 A G 11: 3,192,367 (GRCm39) probably null Het
Eri2 A G 7: 119,385,766 (GRCm39) V245A possibly damaging Het
Erich6b T C 14: 75,896,332 (GRCm39) F73L probably benign Het
Fam110a A G 2: 151,812,429 (GRCm39) C114R probably damaging Het
Fam149a T C 8: 45,806,991 (GRCm39) D288G probably damaging Het
Fam171a1 T A 2: 3,226,656 (GRCm39) Y596* probably null Het
Fsd1 A G 17: 56,298,223 (GRCm39) T183A possibly damaging Het
Fut10 T A 8: 31,726,159 (GRCm39) Y305N probably damaging Het
Ganab A T 19: 8,879,624 (GRCm39) probably benign Het
Gm9922 G T 14: 101,967,012 (GRCm39) probably benign Het
Gp9 A G 6: 87,756,035 (GRCm39) T17A probably benign Het
Gxylt2 T C 6: 100,775,115 (GRCm39) Y345H probably damaging Het
Herc2 A G 7: 55,835,699 (GRCm39) H3269R probably benign Het
Hpx A T 7: 105,241,290 (GRCm39) S374T probably benign Het
Hspa5 T C 2: 34,664,674 (GRCm39) V376A probably damaging Het
Hyi T C 4: 118,219,381 (GRCm39) probably benign Het
Impdh2 G A 9: 108,442,593 (GRCm39) probably null Het
Kremen2 A C 17: 23,961,770 (GRCm39) W246G probably damaging Het
Krt87 A G 15: 101,385,818 (GRCm39) V259A probably damaging Het
L3mbtl4 A T 17: 68,894,188 (GRCm39) H398L probably damaging Het
Lama5 C A 2: 179,838,035 (GRCm39) V894L probably benign Het
Maml2 A G 9: 13,532,912 (GRCm39) probably benign Het
Nup153 A T 13: 46,855,076 (GRCm39) probably benign Het
Or10g6 T G 9: 39,934,550 (GRCm39) I287S probably damaging Het
Or2y15 G T 11: 49,350,967 (GRCm39) V154L probably benign Het
Or5k14 A G 16: 58,692,982 (GRCm39) F177S probably damaging Het
Or8b3b T C 9: 38,584,240 (GRCm39) I180V probably benign Het
Or9r7 G A 10: 129,962,372 (GRCm39) P185S probably benign Het
Otof C T 5: 30,543,718 (GRCm39) R582H probably damaging Het
Pde6a A G 18: 61,387,453 (GRCm39) D448G probably damaging Het
Phgdh A G 3: 98,222,427 (GRCm39) V388A probably benign Het
Plin3 G T 17: 56,586,891 (GRCm39) D385E possibly damaging Het
Polg G T 7: 79,105,341 (GRCm39) D734E probably damaging Het
Pomt1 T C 2: 32,140,912 (GRCm39) Y515H probably damaging Het
Prr35 A C 17: 26,167,461 (GRCm39) H25Q probably damaging Het
Pwwp2a G A 11: 43,573,313 (GRCm39) A132T probably benign Het
Rbm6 A T 9: 107,729,390 (GRCm39) F419L possibly damaging Het
Rfx5 A G 3: 94,864,027 (GRCm39) probably null Het
Rnf135 G A 11: 80,080,066 (GRCm39) S119N probably benign Het
Scfd1 T A 12: 51,433,862 (GRCm39) D51E probably benign Het
Smox A T 2: 131,353,944 (GRCm39) E5D possibly damaging Het
Srpk2 T C 5: 23,723,613 (GRCm39) probably null Het
Syne2 T A 12: 76,147,763 (GRCm39) probably benign Het
Tcf20 A G 15: 82,738,893 (GRCm39) S853P possibly damaging Het
Tmem131l A G 3: 83,833,452 (GRCm39) F804L probably damaging Het
Ttll8 A G 15: 88,798,800 (GRCm39) L645P probably damaging Het
Ubr3 T A 2: 69,727,743 (GRCm39) H35Q probably benign Het
Uck1 GCCAACACC GCC 2: 32,146,088 (GRCm39) probably benign Het
Vmn2r70 A T 7: 85,214,290 (GRCm39) H287Q probably benign Het
Vps26a A T 10: 62,304,171 (GRCm39) I150N probably damaging Het
Zfp605 G A 5: 110,275,323 (GRCm39) R147H probably benign Het
Zfyve16 A G 13: 92,631,596 (GRCm39) M1333T probably damaging 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
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
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'- GTTAACACTCTTGAAAGTCATACCCC -3'
(R):5'- ATCAAGTCACAGTAATGGCCAGAG -3'

Sequencing Primer
(F):5'- CCCAAATAAAAGCTGCTTGGTACTG -3'
(R):5'- TTCCAGAATTTTACAACAATCCAGAC -3'
Posted On 2014-10-02