Incidental Mutation 'R8218:Pidd1'
ID 636481
Institutional Source Beutler Lab
Gene Symbol Pidd1
Ensembl Gene ENSMUSG00000025507
Gene Name p53 induced death domain protein 1
Synonyms Lrdd, Pidd, 1200011D09Rik
MMRRC Submission 067637-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8218 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 141018026-141023938 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 141019566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 698 (V698A)
Ref Sequence ENSEMBL: ENSMUSP00000101627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019226] [ENSMUST00000026580] [ENSMUST00000106005] [ENSMUST00000106006] [ENSMUST00000124266] [ENSMUST00000128703] [ENSMUST00000138865] [ENSMUST00000172654] [ENSMUST00000190068] [ENSMUST00000190882] [ENSMUST00000201710] [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: V698A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000026580
Gene: ENSMUSG00000025507
AA Change: V698A

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: V698A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101627
Gene: ENSMUSG00000025507
AA Change: V698A

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 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: ENSMUST00000172654
SMART Domains Protein: ENSMUSP00000133928
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 1 54 6.2e-12 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: 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: 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: ENSMUST00000201822
SMART Domains Protein: ENSMUSP00000144213
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 4 70 1.2e-18 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 99% (72/73)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik G A 15: 84,839,668 (GRCm39) H191Y probably damaging Het
5730480H06Rik T A 5: 48,536,769 (GRCm39) L155* probably null Het
Ackr4 T C 9: 103,976,410 (GRCm39) N179S probably benign Het
Acp5 T C 9: 22,040,902 (GRCm39) Y107C probably damaging Het
Aff4 A T 11: 53,289,084 (GRCm39) H411L probably damaging Het
Atp5pb A G 3: 105,866,502 (GRCm39) M1T probably null Het
Atp8b5 G A 4: 43,372,728 (GRCm39) probably null Het
C1qtnf2 A G 11: 43,381,775 (GRCm39) T166A possibly damaging Het
Dctn2 A G 10: 127,112,398 (GRCm39) D170G probably damaging Het
Dennd3 T A 15: 73,384,622 (GRCm39) S10T probably benign Het
Ehbp1 T C 11: 22,046,096 (GRCm39) Y551C possibly damaging Het
Eif4g2 A T 7: 110,673,639 (GRCm39) D743E possibly damaging Het
Esr1 G A 10: 4,696,808 (GRCm39) probably null Het
Exo1 A T 1: 175,728,480 (GRCm39) I515L probably benign Het
Fam83h C T 15: 75,874,886 (GRCm39) G817D probably damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Garin1a T C 6: 29,286,072 (GRCm39) I177T probably damaging Het
Gcn1 G A 5: 115,719,588 (GRCm39) S361N probably benign Het
Gm6337 C T 14: 6,050,613 (GRCm38) probably null Het
Grk4 T A 5: 34,826,540 (GRCm39) S47T probably benign Het
Gstp2 C A 19: 4,091,668 (GRCm39) M20I probably benign Het
Harbi1 T C 2: 91,543,237 (GRCm39) F233L probably benign Het
Iqch C T 9: 63,389,915 (GRCm39) V755I possibly damaging Het
Iws1 T C 18: 32,226,688 (GRCm39) F756L probably benign Het
Kcnh6 T G 11: 105,908,200 (GRCm39) V272G possibly damaging Het
Kcnj10 C T 1: 172,196,539 (GRCm39) R18C probably damaging Het
Kmt2c A C 5: 25,488,104 (GRCm39) S4670A probably damaging Het
Krt80 T G 15: 101,267,884 (GRCm39) M18L probably benign Het
Lbx1 A G 19: 45,223,359 (GRCm39) V103A probably benign Het
Marchf8 A T 6: 116,315,059 (GRCm39) probably benign Het
Muc16 T A 9: 18,548,315 (GRCm39) T5993S possibly damaging Het
Or10ag57 C T 2: 87,218,922 (GRCm39) T291I probably damaging Het
Or1j17 A G 2: 36,578,685 (GRCm39) T224A probably benign Het
Or1o4 A G 17: 37,590,711 (GRCm39) V200A probably benign Het
Or8k17 C T 2: 86,066,862 (GRCm39) V106M probably benign Het
Pbxip1 A G 3: 89,352,902 (GRCm39) I183V probably benign Het
Pcdh20 T A 14: 88,706,047 (GRCm39) I418F probably damaging Het
Pclo T C 5: 14,725,677 (GRCm39) F1512L unknown Het
Phf2 G T 13: 48,958,104 (GRCm39) T970K unknown Het
Pik3ca T A 3: 32,491,996 (GRCm39) V198D possibly damaging Het
Pip5k1c T A 10: 81,142,250 (GRCm39) D153E probably damaging Het
Ppfia2 A G 10: 106,699,236 (GRCm39) D795G probably benign Het
Pramel12 A T 4: 143,145,706 (GRCm39) I392F probably benign Het
Prkar2a C A 9: 108,596,448 (GRCm39) A131D possibly damaging Het
Pter A G 2: 12,985,366 (GRCm39) D232G probably damaging Het
Qser1 C T 2: 104,593,268 (GRCm39) R1583Q probably damaging Het
Rasal2 A C 1: 156,984,951 (GRCm39) V932G probably damaging Het
Rasgrf2 G A 13: 92,130,796 (GRCm39) A154V Het
Rbm4 A G 19: 4,837,444 (GRCm39) Y347H probably damaging Het
Rfxank C A 8: 70,584,085 (GRCm39) probably null Het
Robo1 C G 16: 72,786,678 (GRCm39) R897G possibly damaging Het
Sash1 G A 10: 8,627,000 (GRCm39) T364I probably damaging Het
Skint6 T A 4: 112,696,471 (GRCm39) probably null Het
Slc22a4 T A 11: 53,877,407 (GRCm39) M495L probably benign Het
Slc39a8 G A 3: 135,563,325 (GRCm39) V212I probably benign Het
Slc40a1 A C 1: 45,950,129 (GRCm39) V441G probably benign Het
Slc7a11 A T 3: 50,378,501 (GRCm39) Y246N probably damaging Het
Spata9 T C 13: 76,125,892 (GRCm39) V125A probably benign Het
Svopl T A 6: 37,991,741 (GRCm39) M380L probably benign Het
Sycp2l T C 13: 41,271,544 (GRCm39) Y23H probably damaging Het
Syt11 A T 3: 88,669,427 (GRCm39) V155E probably benign Het
Syt5 T C 7: 4,545,822 (GRCm39) Y147C probably damaging Het
Thg1l T C 11: 45,846,277 (GRCm39) T6A probably benign Het
Tlr2 A G 3: 83,745,546 (GRCm39) L179P probably damaging Het
Tsn A T 1: 118,232,984 (GRCm39) Y107N probably damaging Het
Tspan32 A T 7: 142,564,832 (GRCm39) Y114F probably benign Het
Tube1 A C 10: 39,023,375 (GRCm39) S341R possibly damaging Het
Ubn2 T A 6: 38,466,214 (GRCm39) V516D probably benign Het
Vmn1r21 G T 6: 57,820,910 (GRCm39) T178K noncoding transcript Het
Vmn2r108 A G 17: 20,683,465 (GRCm39) Y580H probably damaging Het
Wdr75 T A 1: 45,857,342 (GRCm39) F546L probably damaging Het
Yy1 A G 12: 108,759,619 (GRCm39) D94G probably benign Het
Zfhx3 A G 8: 109,677,349 (GRCm39) T2800A probably benign Het
Zfy2 T C Y: 2,133,421 (GRCm39) T9A unknown 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
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
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'- AGGTACCTCCACAGGAAGTG -3'
(R):5'- TGAACCCTCTGAGACTGTGG -3'

Sequencing Primer
(F):5'- AGTGAACCCCGATAAAAGGAC -3'
(R):5'- ACCCTCTGAGACTGTGGAGATG -3'
Posted On 2020-07-13