Incidental Mutation 'R1441:Rpusd4'
ID 161015
Institutional Source Beutler Lab
Gene Symbol Rpusd4
Ensembl Gene ENSMUSG00000032044
Gene Name RNA pseudouridylate synthase domain containing 4
Synonyms 2410001E19Rik
MMRRC Submission 039496-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.919) question?
Stock # R1441 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 35179177-35187253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 35184065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 240 (A240E)
Ref Sequence ENSEMBL: ENSMUSP00000034543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034543] [ENSMUST00000059057] [ENSMUST00000063782] [ENSMUST00000121564]
AlphaFold Q9CWX4
Predicted Effect probably damaging
Transcript: ENSMUST00000034543
AA Change: A240E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034543
Gene: ENSMUSG00000032044
AA Change: A240E

DomainStartEndE-ValueType
Pfam:PseudoU_synth_2 105 277 5.5e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000059057
SMART Domains Protein: ENSMUSP00000058377
Gene: ENSMUSG00000050471

DomainStartEndE-ValueType
low complexity region 71 86 N/A INTRINSIC
Pfam:SIR2_2 157 301 1.9e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000063782
SMART Domains Protein: ENSMUSP00000066281
Gene: ENSMUSG00000050471

DomainStartEndE-ValueType
Pfam:SIR2_2 75 225 7.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121564
SMART Domains Protein: ENSMUSP00000113537
Gene: ENSMUSG00000050471

DomainStartEndE-ValueType
low complexity region 71 86 N/A INTRINSIC
Pfam:SIR2_2 157 301 2.7e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147256
Predicted Effect probably benign
Transcript: ENSMUST00000144582
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 A T 8: 114,481,194 (GRCm39) probably null Het
Ankrd16 T C 2: 11,783,557 (GRCm39) L53P probably damaging Het
Arsk A T 13: 76,223,083 (GRCm39) N171K probably benign Het
Brwd1 A C 16: 95,867,351 (GRCm39) C161W probably damaging Het
Card9 T C 2: 26,249,402 (GRCm39) N53S probably benign Het
Ccdc13 A T 9: 121,642,515 (GRCm39) V403E probably benign Het
Ccdc83 T A 7: 89,893,351 (GRCm39) E135D probably damaging Het
Ccser1 C T 6: 62,357,016 (GRCm39) T818I probably benign Het
Cd44 T A 2: 102,676,763 (GRCm39) T301S probably damaging Het
Eepd1 G A 9: 25,394,499 (GRCm39) M254I probably benign Het
Ephb4 C T 5: 137,359,509 (GRCm39) R360C probably damaging Het
Fam149a G T 8: 45,808,684 (GRCm39) Q150K probably damaging Het
G6pc2 G A 2: 69,051,198 (GRCm39) C97Y probably damaging Het
Gcsam T A 16: 45,433,401 (GRCm39) M15K probably benign Het
Impdh2 C A 9: 108,441,975 (GRCm39) T201K probably benign Het
Kdm2b C T 5: 123,070,943 (GRCm39) E379K probably benign Het
Mcm3ap T C 10: 76,307,000 (GRCm39) V371A probably benign Het
Mink1 T A 11: 70,497,940 (GRCm39) N514K possibly damaging Het
Mmp12 C T 9: 7,354,787 (GRCm39) P330L probably damaging Het
Mroh2a A G 1: 88,169,353 (GRCm39) D676G possibly damaging Het
Myo1a C T 10: 127,555,148 (GRCm39) P838L probably benign Het
Naip5 T C 13: 100,356,225 (GRCm39) H1130R possibly damaging Het
Ninl C A 2: 150,813,044 (GRCm39) G204V probably benign Het
Or12k5 C A 2: 36,895,131 (GRCm39) R165L possibly damaging Het
Or2a54 T C 6: 43,092,880 (GRCm39) V68A probably benign Het
Or4k51 T C 2: 111,585,347 (GRCm39) F251S probably damaging Het
Or5ac20 G A 16: 59,104,228 (GRCm39) L211F probably benign Het
Or5an11 T A 19: 12,245,750 (GRCm39) L52* probably null Het
Or8c15 T C 9: 38,120,777 (GRCm39) C141R probably damaging Het
Phactr4 G A 4: 132,104,559 (GRCm39) T256I probably benign Het
Pip4p2 A T 4: 14,892,477 (GRCm39) I114L possibly damaging Het
Ptpn22 G T 3: 103,781,563 (GRCm39) W114L probably damaging Het
Rasa1 C T 13: 85,400,540 (GRCm39) probably null Het
Rbks C T 5: 31,817,341 (GRCm39) V143I probably benign Het
Rbm19 T C 5: 120,269,241 (GRCm39) F515L probably damaging Het
Ror1 A G 4: 100,298,180 (GRCm39) T518A probably benign Het
Rufy3 T C 5: 88,780,374 (GRCm39) L374P probably damaging Het
Sf3a3 T C 4: 124,618,935 (GRCm39) S299P probably damaging Het
Slc7a12 T G 3: 14,562,414 (GRCm39) S264A possibly damaging Het
Tasor T A 14: 27,186,217 (GRCm39) C805* probably null Het
Tm9sf1 T C 14: 55,873,782 (GRCm39) Y572C probably damaging Het
Tpcn2 G A 7: 144,813,871 (GRCm39) S475L probably benign Het
Trim17 A G 11: 58,856,018 (GRCm39) D25G probably damaging Het
Ttn T A 2: 76,572,121 (GRCm39) K26257N probably damaging Het
Txndc11 C A 16: 10,952,414 (GRCm39) probably benign Het
Utrn A G 10: 12,559,039 (GRCm39) S1405P probably damaging Het
Vmn2r58 G A 7: 41,486,864 (GRCm39) T677I probably damaging Het
Other mutations in Rpusd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00597:Rpusd4 APN 9 35,179,738 (GRCm39) missense probably benign 0.34
IGL00722:Rpusd4 APN 9 35,179,714 (GRCm39) missense possibly damaging 0.66
IGL01657:Rpusd4 APN 9 35,184,757 (GRCm39) unclassified probably benign
IGL01780:Rpusd4 APN 9 35,179,720 (GRCm39) missense probably damaging 0.98
IGL03290:Rpusd4 APN 9 35,179,273 (GRCm39) missense probably benign
R0607:Rpusd4 UTSW 9 35,179,289 (GRCm39) missense possibly damaging 0.93
R1081:Rpusd4 UTSW 9 35,186,384 (GRCm39) missense probably benign 0.04
R2029:Rpusd4 UTSW 9 35,179,310 (GRCm39) missense probably benign 0.00
R3929:Rpusd4 UTSW 9 35,183,876 (GRCm39) missense probably benign 0.29
R4107:Rpusd4 UTSW 9 35,186,424 (GRCm39) missense probably damaging 1.00
R4840:Rpusd4 UTSW 9 35,179,831 (GRCm39) missense probably damaging 1.00
R5429:Rpusd4 UTSW 9 35,183,898 (GRCm39) missense probably benign 0.01
R5801:Rpusd4 UTSW 9 35,181,369 (GRCm39) missense possibly damaging 0.83
R5988:Rpusd4 UTSW 9 35,183,816 (GRCm39) splice site probably null
R6318:Rpusd4 UTSW 9 35,179,334 (GRCm39) missense probably damaging 1.00
R7819:Rpusd4 UTSW 9 35,179,228 (GRCm39) missense probably benign
R7995:Rpusd4 UTSW 9 35,184,017 (GRCm39) missense probably damaging 0.99
R8227:Rpusd4 UTSW 9 35,179,831 (GRCm39) missense probably benign 0.22
R8246:Rpusd4 UTSW 9 35,183,876 (GRCm39) missense probably benign 0.29
V1662:Rpusd4 UTSW 9 35,184,057 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TCAAACAGCAGTCTGTGTGTCACC -3'
(R):5'- TCCCTCCTGGGCTAAGTCAATTATACC -3'

Sequencing Primer
(F):5'- ATCACGGTGCGTGTTCC -3'
(R):5'- TGGGCTAAGTCAATTATACCCACAC -3'
Posted On 2014-03-14