Incidental Mutation 'R5790:Pidd1'
ID 448274
Institutional Source Beutler Lab
Gene Symbol Pidd1
Ensembl Gene ENSMUSG00000025507
Gene Name p53 induced death domain protein 1
Synonyms Lrdd, Pidd, 1200011D09Rik
MMRRC Submission 043384-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5790 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 141018026-141023938 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 141021305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019226] [ENSMUST00000026580] [ENSMUST00000106005] [ENSMUST00000106006] [ENSMUST00000124266] [ENSMUST00000128703] [ENSMUST00000190882] [ENSMUST00000201822] [ENSMUST00000190068] [ENSMUST00000172654] [ENSMUST00000201710]
AlphaFold Q9ERV7
Predicted Effect probably benign
Transcript: ENSMUST00000019226
SMART Domains Protein: ENSMUSP00000019226
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 4 98 8.1e-26 PFAM
Pfam:Mito_carr 99 217 8.6e-19 PFAM
Pfam:Mito_carr 221 310 7.4e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026580
SMART Domains Protein: ENSMUSP00000026580
Gene: ENSMUSG00000025507

DomainStartEndE-ValueType
low complexity region 9 27 N/A INTRINSIC
LRR 129 150 1.66e1 SMART
LRR 152 174 9.48e0 SMART
LRR 175 197 1.81e1 SMART
LRR 198 220 5.56e0 SMART
LRR 221 243 8.67e-1 SMART
LRR 244 266 7.57e0 SMART
LRR 267 290 6.13e-1 SMART
low complexity region 303 311 N/A INTRINSIC
low complexity region 406 419 N/A INTRINSIC
Pfam:Peptidase_S68 426 459 3.5e-26 PFAM
Pfam:ZU5 463 551 5e-9 PFAM
low complexity region 563 574 N/A INTRINSIC
low complexity region 734 744 N/A INTRINSIC
DEATH 783 878 8.31e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106005
SMART Domains Protein: ENSMUSP00000101627
Gene: ENSMUSG00000025507

DomainStartEndE-ValueType
low complexity region 9 27 N/A INTRINSIC
LRR 129 150 1.66e1 SMART
LRR 152 174 9.48e0 SMART
LRR 175 197 1.81e1 SMART
LRR 198 220 5.56e0 SMART
LRR 221 243 8.67e-1 SMART
LRR 244 266 7.57e0 SMART
LRR 267 290 6.13e-1 SMART
low complexity region 303 311 N/A INTRINSIC
Pfam:ZU5 328 422 6.6e-11 PFAM
Pfam:Peptidase_S68 426 458 5.2e-21 PFAM
Pfam:ZU5 463 546 6.5e-9 PFAM
low complexity region 563 574 N/A INTRINSIC
low complexity region 734 744 N/A INTRINSIC
DEATH 783 878 8.31e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106006
SMART Domains Protein: ENSMUSP00000101628
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 4 98 2.8e-26 PFAM
Pfam:Mito_carr 99 137 5.6e-8 PFAM
Pfam:Mito_carr 134 216 2.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124266
SMART Domains Protein: ENSMUSP00000122177
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 4 98 2.7e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128703
SMART Domains Protein: ENSMUSP00000139487
Gene: ENSMUSG00000025507

DomainStartEndE-ValueType
low complexity region 9 27 N/A INTRINSIC
LRR 129 148 3.5e-1 SMART
LRR 152 171 1.4e-1 SMART
LRR 175 194 3.9e-2 SMART
LRR 198 217 8.7e-1 SMART
LRR 221 240 9.6e-2 SMART
LRR 244 266 3.1e-2 SMART
LRR 267 286 1.3e-1 SMART
low complexity region 303 311 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140602
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154949
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131621
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138065
Predicted Effect probably benign
Transcript: ENSMUST00000190882
SMART Domains Protein: ENSMUSP00000139785
Gene: ENSMUSG00000025507

DomainStartEndE-ValueType
low complexity region 9 27 N/A INTRINSIC
LRR 129 148 3.5e-1 SMART
LRR 152 171 1.4e-1 SMART
LRR 175 194 3.9e-2 SMART
LRR 198 217 8.7e-1 SMART
LRR_TYP 221 244 3.7e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201822
SMART Domains Protein: ENSMUSP00000144213
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 4 70 1.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190068
SMART Domains Protein: ENSMUSP00000139957
Gene: ENSMUSG00000025507

DomainStartEndE-ValueType
low complexity region 9 27 N/A INTRINSIC
LRR 129 148 3.5e-1 SMART
LRR 152 171 1.4e-1 SMART
LRR 175 194 3.9e-2 SMART
LRR 198 217 8.7e-1 SMART
LRR 221 240 9.6e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172654
SMART Domains Protein: ENSMUSP00000133928
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 1 54 6.2e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201710
SMART Domains Protein: ENSMUSP00000144231
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 4 98 1.7e-26 PFAM
Pfam:Mito_carr 99 217 2.3e-18 PFAM
Pfam:Mito_carr 221 311 5.7e-20 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 99% (73/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null allele were viable and did not show fertility problems, gender bias, other overt phenotype, or any gross abnormalities in histological assessment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 A T 5: 31,051,702 (GRCm39) R633* probably null Het
Ahnak T C 19: 8,992,612 (GRCm39) V4632A probably damaging Het
Asap1 T A 15: 63,966,114 (GRCm39) D997V probably damaging Het
Atad2 T C 15: 57,989,990 (GRCm39) Y162C probably damaging Het
Atp2b2 G T 6: 113,736,270 (GRCm39) S936R probably damaging Het
Bcl11a T A 11: 24,113,650 (GRCm39) L331Q probably damaging Het
C6 T A 15: 4,792,968 (GRCm39) F358I probably damaging Het
Capn15 C T 17: 26,183,521 (GRCm39) S386N probably benign Het
Ccdc66 G A 14: 27,222,404 (GRCm39) T113I possibly damaging Het
Cd200 G T 16: 45,217,621 (GRCm39) H23Q possibly damaging Het
Cdh17 A G 4: 11,814,945 (GRCm39) probably null Het
Ces2b C T 8: 105,560,568 (GRCm39) P128S probably damaging Het
Ces3b A T 8: 105,819,270 (GRCm39) Q442L probably damaging Het
Chil4 T C 3: 106,109,894 (GRCm39) H373R probably benign Het
Ciapin1 C A 8: 95,551,811 (GRCm39) probably benign Het
Cnot10 A C 9: 114,454,985 (GRCm39) probably null Het
Cpq A G 15: 33,250,143 (GRCm39) K167E probably damaging Het
Dennd4b T A 3: 90,184,757 (GRCm39) D1118E probably damaging Het
Dnah8 T A 17: 31,093,978 (GRCm39) C4691S probably damaging Het
Dnajc1 A G 2: 18,311,898 (GRCm39) probably benign Het
Dnhd1 G A 7: 105,304,981 (GRCm39) R341H probably damaging Het
Dock10 G T 1: 80,482,887 (GRCm39) T2145K probably benign Het
Eif3b T C 5: 140,427,886 (GRCm39) V736A probably benign Het
Eno1 G T 4: 150,329,710 (GRCm39) V195L probably benign Het
Ewsr1 C T 11: 5,032,263 (GRCm39) probably benign Het
Fbn2 T C 18: 58,209,768 (GRCm39) T1038A probably benign Het
Gabrb1 T C 5: 72,293,827 (GRCm39) I367T possibly damaging Het
Gigyf1 C T 5: 137,522,517 (GRCm39) probably benign Het
Glp2r T A 11: 67,655,625 (GRCm39) Y39F probably damaging Het
Gm10036 T A 18: 15,966,243 (GRCm39) Y131* probably null Het
Gm38706 T C 6: 130,461,961 (GRCm39) noncoding transcript Het
Gna15 G A 10: 81,345,218 (GRCm39) R216C probably damaging Het
Grin3a A G 4: 49,792,717 (GRCm39) F339L probably damaging Het
Grk3 T G 5: 113,114,842 (GRCm39) K126T possibly damaging Het
Hspa1l T C 17: 35,196,216 (GRCm39) V85A probably benign Het
Iqsec1 A T 6: 90,666,862 (GRCm39) L525* probably null Het
Irx3 T C 8: 92,526,304 (GRCm39) T467A probably benign Het
Itga2 G A 13: 115,004,742 (GRCm39) T530I probably benign Het
Lonp2 T C 8: 87,358,118 (GRCm39) V113A probably benign Het
Msx3 C T 7: 139,628,866 (GRCm39) R16H possibly damaging Het
Nek3 C A 8: 22,621,313 (GRCm39) Q405H probably damaging Het
Nek3 T A 8: 22,621,314 (GRCm39) Q403L probably damaging Het
Or2b6 T C 13: 21,823,046 (GRCm39) T216A probably benign Het
Or6c66 A G 10: 129,461,757 (GRCm39) Y58H probably damaging Het
P4ha1 A G 10: 59,190,184 (GRCm39) N367S probably benign Het
Padi6 C A 4: 140,459,569 (GRCm39) G429C probably damaging Het
Plekhg5 T C 4: 152,198,392 (GRCm39) V847A probably benign Het
Polr3e A G 7: 120,527,190 (GRCm39) D56G probably damaging Het
Pomt2 T G 12: 87,174,152 (GRCm39) N347T probably damaging Het
Ppp1r9a T C 6: 5,134,363 (GRCm39) probably benign Het
Rbm33 A T 5: 28,544,296 (GRCm39) D184V probably damaging Het
Rims2 A T 15: 39,544,441 (GRCm39) T1431S probably damaging Het
Saal1 T C 7: 46,351,352 (GRCm39) D208G probably damaging Het
Sis T C 3: 72,835,507 (GRCm39) I952V probably benign Het
Slc30a1 T A 1: 191,640,997 (GRCm39) D214E probably benign Het
Slc30a8 T C 15: 52,197,043 (GRCm39) V318A possibly damaging Het
Smarca2 A G 19: 26,654,124 (GRCm39) T770A probably damaging Het
Sptbn4 T A 7: 27,065,853 (GRCm39) H2031L probably damaging Het
Ssbp1 A G 6: 40,457,804 (GRCm39) S141G probably benign Het
Tgm4 A G 9: 122,890,808 (GRCm39) E45G probably damaging Het
Thra T A 11: 98,653,777 (GRCm39) S203T probably benign Het
Tle2 T C 10: 81,426,149 (GRCm39) Y763H probably damaging Het
Tmem141 T A 2: 25,511,087 (GRCm39) I102L probably benign Het
Tmem63c C T 12: 87,104,410 (GRCm39) T77I probably benign Het
Tspo2 C A 17: 48,756,047 (GRCm39) probably null Het
Ttc19 T A 11: 62,172,340 (GRCm39) M1K probably null Het
Ucp1 A G 8: 84,024,520 (GRCm39) N282D possibly damaging Het
Vmn1r33 A T 6: 66,589,198 (GRCm39) F119I probably benign Het
Vmn2r24 A T 6: 123,792,499 (GRCm39) M609L probably benign Het
Vwc2l A T 1: 70,790,142 (GRCm39) H146L probably damaging Het
Other mutations in Pidd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02751:Pidd1 APN 7 141,019,076 (GRCm39) missense possibly damaging 0.93
IGL02794:Pidd1 APN 7 141,023,021 (GRCm39) missense probably benign 0.00
IGL03083:Pidd1 APN 7 141,020,369 (GRCm39) critical splice donor site probably null
IGL03347:Pidd1 APN 7 141,019,081 (GRCm39) missense probably damaging 0.97
R0329:Pidd1 UTSW 7 141,019,474 (GRCm39) unclassified probably benign
R0426:Pidd1 UTSW 7 141,019,046 (GRCm39) missense probably damaging 1.00
R0650:Pidd1 UTSW 7 141,020,726 (GRCm39) nonsense probably null
R0651:Pidd1 UTSW 7 141,020,726 (GRCm39) nonsense probably null
R1201:Pidd1 UTSW 7 141,020,187 (GRCm39) missense probably benign
R1221:Pidd1 UTSW 7 141,018,725 (GRCm39) missense probably damaging 1.00
R1613:Pidd1 UTSW 7 141,020,690 (GRCm39) missense probably damaging 1.00
R1763:Pidd1 UTSW 7 141,019,543 (GRCm39) missense probably benign
R3967:Pidd1 UTSW 7 141,018,995 (GRCm39) missense possibly damaging 0.86
R4072:Pidd1 UTSW 7 141,020,739 (GRCm39) missense probably damaging 1.00
R4073:Pidd1 UTSW 7 141,020,739 (GRCm39) missense probably damaging 1.00
R4075:Pidd1 UTSW 7 141,020,739 (GRCm39) missense probably damaging 1.00
R4076:Pidd1 UTSW 7 141,020,739 (GRCm39) missense probably damaging 1.00
R4157:Pidd1 UTSW 7 141,021,279 (GRCm39) missense possibly damaging 0.87
R4501:Pidd1 UTSW 7 141,021,356 (GRCm39) unclassified probably benign
R4700:Pidd1 UTSW 7 141,022,162 (GRCm39) missense probably damaging 1.00
R4797:Pidd1 UTSW 7 141,022,899 (GRCm39) missense possibly damaging 0.92
R4985:Pidd1 UTSW 7 141,018,504 (GRCm39) makesense probably null
R5402:Pidd1 UTSW 7 141,018,507 (GRCm39) missense probably damaging 1.00
R5684:Pidd1 UTSW 7 141,021,024 (GRCm39) splice site probably null
R5909:Pidd1 UTSW 7 141,021,183 (GRCm39) missense probably damaging 1.00
R6275:Pidd1 UTSW 7 141,019,708 (GRCm39) missense probably damaging 1.00
R6582:Pidd1 UTSW 7 141,019,494 (GRCm39) missense probably damaging 1.00
R6814:Pidd1 UTSW 7 141,019,331 (GRCm39) missense probably benign 0.34
R6872:Pidd1 UTSW 7 141,019,331 (GRCm39) missense probably benign 0.34
R6935:Pidd1 UTSW 7 141,020,215 (GRCm39) missense probably damaging 1.00
R7088:Pidd1 UTSW 7 141,020,400 (GRCm39) missense probably damaging 1.00
R7133:Pidd1 UTSW 7 141,019,813 (GRCm39) missense probably benign 0.05
R7544:Pidd1 UTSW 7 141,020,252 (GRCm39) missense possibly damaging 0.81
R7821:Pidd1 UTSW 7 141,022,193 (GRCm39) missense probably benign 0.36
R7861:Pidd1 UTSW 7 141,020,055 (GRCm39) missense probably damaging 1.00
R7903:Pidd1 UTSW 7 141,019,744 (GRCm39) missense probably damaging 0.99
R8218:Pidd1 UTSW 7 141,019,566 (GRCm39) missense probably damaging 1.00
R9623:Pidd1 UTSW 7 141,021,678 (GRCm39) missense probably damaging 1.00
Z1176:Pidd1 UTSW 7 141,020,274 (GRCm39) missense probably benign 0.03
Z1177:Pidd1 UTSW 7 141,020,929 (GRCm39) missense probably damaging 1.00
Z1177:Pidd1 UTSW 7 141,018,609 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATACTTGCTGGAAAGCCACCC -3'
(R):5'- GCACATCACCATTCTGACTGTC -3'

Sequencing Primer
(F):5'- TGCAGCTCCAGGACACTACTAAG -3'
(R):5'- ACATCACCATTCTGACTGTCACCTG -3'
Posted On 2016-12-15