Incidental Mutation 'R1221:Pidd1'
ID 100099
Institutional Source Beutler Lab
Gene Symbol Pidd1
Ensembl Gene ENSMUSG00000025507
Gene Name p53 induced death domain protein 1
Synonyms Lrdd, Pidd, 1200011D09Rik
MMRRC Submission 039290-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1221 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 141018026-141023938 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 141018725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 842 (F842Y)
Ref Sequence ENSEMBL: ENSMUSP00000101627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019226] [ENSMUST00000026580] [ENSMUST00000106005] [ENSMUST00000106006] [ENSMUST00000106007] [ENSMUST00000124266] [ENSMUST00000128703] [ENSMUST00000138865] [ENSMUST00000133021] [ENSMUST00000136354] [ENSMUST00000133206] [ENSMUST00000150026] [ENSMUST00000172654] [ENSMUST00000190882] [ENSMUST00000190068] [ENSMUST00000202840] [ENSMUST00000201127] [ENSMUST00000201710] [ENSMUST00000184518] [ENSMUST00000201822]
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: F842Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026580
Gene: ENSMUSG00000025507
AA Change: F842Y

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: F842Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101627
Gene: ENSMUSG00000025507
AA Change: F842Y

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 noncoding transcript
Transcript: ENSMUST00000140602
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131621
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154949
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138065
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 probably benign
Transcript: ENSMUST00000133021
Predicted Effect probably benign
Transcript: ENSMUST00000136354
SMART Domains Protein: ENSMUSP00000118948
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 4 98 1.2e-25 PFAM
Pfam:Mito_carr 99 206 2.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133206
Predicted Effect probably benign
Transcript: ENSMUST00000150026
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 noncoding transcript
Transcript: ENSMUST00000201558
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201708
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: 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: ENSMUST00000202840
SMART Domains Protein: ENSMUSP00000144384
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 4 85 5.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201127
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 probably benign
Transcript: ENSMUST00000184518
SMART Domains Protein: ENSMUSP00000138924
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 4 98 1.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201822
SMART Domains Protein: ENSMUSP00000144213
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 4 70 1.2e-18 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,942,460 (GRCm39) S668P unknown Het
Anks1 A G 17: 28,269,616 (GRCm39) Q770R possibly damaging Het
Apc2 G A 10: 80,142,214 (GRCm39) V378I probably damaging Het
Apeh A G 9: 107,969,808 (GRCm39) V184A probably benign Het
AU018091 A G 7: 3,208,717 (GRCm39) F404S probably damaging Het
Bap1 T C 14: 30,979,608 (GRCm39) L537P probably damaging Het
Bhlha15 A G 5: 144,128,341 (GRCm39) Y151C probably damaging Het
Bmp8b A T 4: 123,008,504 (GRCm39) T157S probably damaging Het
Btbd1 G T 7: 81,468,005 (GRCm39) H172N possibly damaging Het
C1rl A G 6: 124,470,940 (GRCm39) R83G probably benign Het
Cep104 A G 4: 154,072,902 (GRCm39) T387A probably benign Het
Cfi A T 3: 129,666,618 (GRCm39) Q447L probably damaging Het
Cimap1a G T 7: 140,428,296 (GRCm39) W10L probably damaging Het
Coq6 A G 12: 84,418,301 (GRCm39) E295G possibly damaging Het
Dclre1a T C 19: 56,519,700 (GRCm39) T978A possibly damaging Het
Dlc1 T C 8: 37,051,985 (GRCm39) D582G probably benign Het
Dlgap2 A G 8: 14,776,952 (GRCm39) T65A probably benign Het
Dock5 G A 14: 67,996,610 (GRCm39) S1711L probably benign Het
Drc3 A C 11: 60,275,052 (GRCm39) I338L probably benign Het
Dsc1 A T 18: 20,247,599 (GRCm39) C5* probably null Het
F5 A G 1: 163,989,368 (GRCm39) Y90C probably damaging Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
Gm136 G T 4: 34,744,127 (GRCm39) A239E possibly damaging Het
Gm4952 A T 19: 12,601,059 (GRCm39) D93V possibly damaging Het
Gramd1c T C 16: 43,810,227 (GRCm39) T454A possibly damaging Het
Gstm6 A G 3: 107,848,418 (GRCm39) I58T probably damaging Het
Kdm3b C T 18: 34,941,298 (GRCm39) S263L possibly damaging Het
Kdm5b G C 1: 134,526,829 (GRCm39) S317T probably damaging Het
Myo15b A G 11: 115,777,546 (GRCm39) R71G possibly damaging Het
Nlrp1b G A 11: 71,072,290 (GRCm39) P518S probably benign Het
Nme5 A T 18: 34,704,575 (GRCm39) I90N probably damaging Het
Nrxn1 T A 17: 90,950,722 (GRCm39) T478S probably damaging Het
Or8g22 A C 9: 38,958,483 (GRCm39) D77E probably damaging Het
Osmr G A 15: 6,853,042 (GRCm39) Q617* probably null Het
Pcsk5 T C 19: 17,814,512 (GRCm39) D2G possibly damaging Het
Pdpn G A 4: 143,000,608 (GRCm39) R75C probably damaging Het
Resf1 T A 6: 149,227,719 (GRCm39) V255E probably benign Het
Sema3a A G 5: 13,566,190 (GRCm39) Q158R probably benign Het
Setbp1 T A 18: 78,899,798 (GRCm39) R1290W probably damaging Het
Slc20a1 G A 2: 129,050,324 (GRCm39) G494D probably benign Het
Spag17 A G 3: 99,889,584 (GRCm39) E151G possibly damaging Het
Stt3b A G 9: 115,086,567 (GRCm39) F351L probably benign Het
Tas1r2 A G 4: 139,396,436 (GRCm39) M592V probably benign Het
Tbcd A G 11: 121,387,909 (GRCm39) T347A probably benign Het
Tmem109 C A 19: 10,851,733 (GRCm39) R37L possibly damaging Het
Tmem67 G A 4: 12,045,871 (GRCm39) S862L possibly damaging Het
Ttn T A 2: 76,781,857 (GRCm39) D1017V probably damaging Het
Zfp646 G A 7: 127,482,292 (GRCm39) G1490S probably benign Het
Zfyve16 T C 13: 92,644,813 (GRCm39) S1130G possibly 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
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
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'- CGTCGAATGCTGTCCTGGTACTTG -3'
(R):5'- AGTTCTAGTGATCCTGCTGACTCCC -3'

Sequencing Primer
(F):5'- TACTTGTGGCGGCCAAGC -3'
(R):5'- AGGTTCAAGGCTGACATCTC -3'
Posted On 2014-01-15