Incidental Mutation 'R6582:Pidd1'
ID 524156
Institutional Source Beutler Lab
Gene Symbol Pidd1
Ensembl Gene ENSMUSG00000025507
Gene Name p53 induced death domain protein 1
Synonyms Lrdd, Pidd, 1200011D09Rik
MMRRC Submission 044706-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6582 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 141018026-141023938 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 141019494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 722 (V722D)
Ref Sequence ENSEMBL: ENSMUSP00000101627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019226] [ENSMUST00000026580] [ENSMUST00000106005] [ENSMUST00000106006] [ENSMUST00000106007] [ENSMUST00000124266] [ENSMUST00000128703] [ENSMUST00000138865] [ENSMUST00000150026] [ENSMUST00000133206] [ENSMUST00000190068] [ENSMUST00000190882] [ENSMUST00000172654] [ENSMUST00000201822] [ENSMUST00000201710] [ENSMUST00000202840]
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 damaging
Transcript: ENSMUST00000026580
AA Change: V722D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026580
Gene: ENSMUSG00000025507
AA Change: V722D

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 damaging
Transcript: ENSMUST00000106005
AA Change: V722D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101627
Gene: ENSMUSG00000025507
AA Change: V722D

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: ENSMUST00000106007
SMART Domains Protein: ENSMUSP00000101629
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
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 probably benign
Transcript: ENSMUST00000138865
SMART Domains Protein: ENSMUSP00000120721
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 4 98 1.4e-25 PFAM
Pfam:Mito_carr 99 214 1.8e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138065
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131980
Predicted Effect probably benign
Transcript: ENSMUST00000150026
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154949
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140602
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131621
Predicted Effect probably benign
Transcript: ENSMUST00000133206
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: 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 noncoding transcript
Transcript: ENSMUST00000201072
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: ENSMUST00000201822
SMART Domains Protein: ENSMUSP00000144213
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 4 70 1.2e-18 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190303
Predicted Effect probably benign
Transcript: ENSMUST00000202840
SMART Domains Protein: ENSMUSP00000144384
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 4 85 5.6e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201558
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (40/40)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,297,384 (GRCm39) T2369A probably benign Het
Abhd6 T G 14: 8,042,828 (GRCm38) probably null Het
Abhd6 G T 14: 8,042,826 (GRCm38) G128C probably damaging Het
Acsm3 A G 7: 119,378,896 (GRCm39) E426G probably benign Het
Ankrd11 T C 8: 123,618,368 (GRCm39) D1828G probably benign Het
Asmt T A X: 169,108,766 (GRCm39) probably null Het
Casp4 A G 9: 5,324,884 (GRCm39) Q232R probably benign Het
Cenpt A T 8: 106,575,833 (GRCm39) L171* probably null Het
Chd3 AGCGGCGGCGGCGGCGGCGG AGCGGCGGCGGCGGCGG 11: 69,259,982 (GRCm39) probably benign Het
Col5a2 G T 1: 45,429,275 (GRCm39) H948N possibly damaging Het
Dnah9 G T 11: 65,951,923 (GRCm39) H1859N probably damaging Het
Dscaml1 G A 9: 45,664,104 (GRCm39) R1993Q probably benign Het
Fbxw8 C A 5: 118,263,028 (GRCm39) R217L probably benign Het
Flnb T G 14: 7,892,275 (GRCm38) probably null Het
Fyb2 A G 4: 104,802,739 (GRCm39) N214D probably benign Het
Gbp2b A G 3: 142,316,801 (GRCm39) E484G possibly damaging Het
Gzmk A G 13: 113,317,045 (GRCm39) Y45H probably damaging Het
Ivl CCTGCTGCTGCTGCT CCTGCTGCTGCT 3: 92,479,217 (GRCm39) probably benign Het
Kcnj6 A G 16: 94,633,685 (GRCm39) V142A possibly damaging Het
Klri2 A T 6: 129,716,096 (GRCm39) I81K possibly damaging Het
Lama3 T A 18: 12,710,897 (GRCm39) V3144E probably damaging Het
Mark1 G A 1: 184,644,786 (GRCm39) S390L possibly damaging Het
Mbd3l1 T C 9: 18,396,024 (GRCm39) Y50H probably benign Het
Mcat T C 15: 83,433,383 (GRCm39) N220S probably benign Het
Muc2 A G 7: 141,282,941 (GRCm39) E81G probably benign Het
Neto1 A T 18: 86,512,985 (GRCm39) K327* probably null Het
Or10j3 G T 1: 173,031,847 (GRCm39) R308L probably benign Het
Or4a67 A T 2: 88,598,587 (GRCm39) L24Q probably damaging Het
Or52p1 A T 7: 104,267,648 (GRCm39) Y254F probably damaging Het
Or52u1 T C 7: 104,237,218 (GRCm39) L69P probably damaging Het
Ppp2r2a G T 14: 67,257,253 (GRCm39) H326N probably damaging Het
Smarca5 G A 8: 81,446,281 (GRCm39) T473I probably damaging Het
Spg11 C A 2: 121,922,773 (GRCm39) W892L probably damaging Het
Tas2r110 T A 6: 132,845,248 (GRCm39) I93N possibly damaging Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Vmn1r71 T A 7: 10,482,608 (GRCm39) I27F probably benign Het
Vsnl1 A G 12: 11,376,489 (GRCm39) V132A probably benign Het
Wdsub1 T C 2: 59,708,652 (GRCm39) T74A probably damaging Het
Ywhaz T C 15: 36,791,166 (GRCm39) Y19C 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
R5790:Pidd1 UTSW 7 141,021,305 (GRCm39) unclassified probably benign
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
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'- TCTTGTCAGCTGAAGCCTC -3'
(R):5'- AGGTCTCTTTTCCAGGGTGC -3'

Sequencing Primer
(F):5'- AGCCTCACCGGTAGCTTGATG -3'
(R):5'- CCCTGGGGAGTGACACTTTG -3'
Posted On 2018-06-22