Incidental Mutation 'R4075:Pidd1'
| ID |
316525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pidd1
|
| Ensembl Gene |
ENSMUSG00000025507 |
| Gene Name |
p53 induced death domain protein 1 |
| Synonyms |
Lrdd, Pidd, 1200011D09Rik |
| MMRRC Submission |
040974-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4075 (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 G
at 141020739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 453
(F453L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019226]
[ENSMUST00000026580]
[ENSMUST00000106005]
[ENSMUST00000106006]
[ENSMUST00000124266]
[ENSMUST00000128703]
[ENSMUST00000190068]
[ENSMUST00000190882]
[ENSMUST00000172654]
[ENSMUST00000201822]
[ENSMUST00000201710]
|
| AlphaFold |
Q9ERV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019226
|
| SMART Domains |
Protein: ENSMUSP00000019226
Gene: ENSMUSG00000019082
| Domain | Start | End | E-Value | Type |
|---|
|
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: F453L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000026580
Gene: ENSMUSG00000025507
AA Change: F453L
| Domain | Start | End | E-Value | Type |
|---|
|
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: F453L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101627
Gene: ENSMUSG00000025507
AA Change: F453L
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
4 |
98 |
2.7e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128703
|
| SMART Domains |
Protein: ENSMUSP00000139487
Gene: ENSMUSG00000025507
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000154949
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147268
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131980
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138065
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131621
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140602
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190303
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190068
|
| SMART Domains |
Protein: ENSMUSP00000139957
Gene: ENSMUSG00000025507
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000172654
|
| SMART Domains |
Protein: ENSMUSP00000133928
Gene: ENSMUSG00000019082
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
54 |
6.2e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201822
|
| SMART Domains |
Protein: ENSMUSP00000144213
Gene: ENSMUSG00000019082
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
4 |
70 |
1.2e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201710
|
| SMART Domains |
Protein: ENSMUSP00000144231
Gene: ENSMUSG00000019082
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Meta Mutation Damage Score |
0.7281 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
T |
A |
7: 119,297,981 (GRCm39) |
L206H |
probably benign |
Het |
| Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
| Adgrf5 |
T |
G |
17: 43,761,086 (GRCm39) |
V927G |
probably damaging |
Het |
| Agtr1a |
A |
G |
13: 30,565,817 (GRCm39) |
N294S |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,402,023 (GRCm39) |
L1229S |
probably damaging |
Het |
| Chmp7 |
A |
T |
14: 69,969,730 (GRCm39) |
V70E |
probably damaging |
Het |
| Cnot10 |
A |
G |
9: 114,452,015 (GRCm39) |
F254L |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,318,810 (GRCm39) |
V2963A |
possibly damaging |
Het |
| Depp1 |
A |
G |
6: 116,629,029 (GRCm39) |
N124S |
possibly damaging |
Het |
| Dnah5 |
T |
A |
15: 28,293,937 (GRCm39) |
D1347E |
probably benign |
Het |
| Dsg1a |
T |
G |
18: 20,473,127 (GRCm39) |
N733K |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,231,350 (GRCm39) |
E2656G |
probably benign |
Het |
| Egf |
C |
T |
3: 129,529,618 (GRCm39) |
R264Q |
probably benign |
Het |
| Eqtn |
A |
G |
4: 94,808,199 (GRCm39) |
I201T |
possibly damaging |
Het |
| Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
| Fsip2 |
C |
T |
2: 82,813,245 (GRCm39) |
S3188L |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,325,774 (GRCm39) |
D1416G |
probably benign |
Het |
| Hormad1 |
T |
C |
3: 95,485,514 (GRCm39) |
M234T |
possibly damaging |
Het |
| Ifi44 |
A |
T |
3: 151,451,613 (GRCm39) |
N164K |
probably benign |
Het |
| Ikzf3 |
G |
T |
11: 98,358,469 (GRCm39) |
Y289* |
probably null |
Het |
| Il17rc |
A |
G |
6: 113,458,158 (GRCm39) |
D327G |
possibly damaging |
Het |
| Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
| Lce1l |
C |
T |
3: 92,757,540 (GRCm39) |
S106N |
unknown |
Het |
| Lrig3 |
C |
T |
10: 125,849,277 (GRCm39) |
T999I |
probably benign |
Het |
| Map4k4 |
T |
C |
1: 40,062,622 (GRCm39) |
Y1196H |
probably damaging |
Het |
| Mtr |
C |
A |
13: 12,230,298 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
| Nxt1 |
A |
G |
2: 148,517,652 (GRCm39) |
D131G |
probably damaging |
Het |
| Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
| Or5bw2 |
T |
C |
7: 6,573,142 (GRCm39) |
S51P |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,879,150 (GRCm39) |
R902G |
probably damaging |
Het |
| Ptpn1 |
T |
A |
2: 167,818,433 (GRCm39) |
|
probably null |
Het |
| Rev1 |
T |
G |
1: 38,093,319 (GRCm39) |
K1075T |
possibly damaging |
Het |
| Slc28a2b |
T |
G |
2: 122,344,892 (GRCm39) |
V166G |
probably benign |
Het |
| Slco1a5 |
A |
T |
6: 142,213,950 (GRCm39) |
I57K |
possibly damaging |
Het |
| Ssrp1 |
A |
C |
2: 84,875,912 (GRCm39) |
K590N |
possibly damaging |
Het |
| Svs5 |
T |
C |
2: 164,079,238 (GRCm39) |
E223G |
probably benign |
Het |
| Tab3 |
G |
T |
X: 84,658,063 (GRCm39) |
V197F |
probably damaging |
Het |
| Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
| Usp31 |
A |
G |
7: 121,267,005 (GRCm39) |
|
probably null |
Het |
| Vmn2r24 |
A |
T |
6: 123,764,374 (GRCm39) |
H417L |
possibly damaging |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zbtb11 |
C |
T |
16: 55,818,427 (GRCm39) |
T617I |
possibly damaging |
Het |
| Zfp677 |
T |
C |
17: 21,618,421 (GRCm39) |
Y493H |
probably damaging |
Het |
|
| Other mutations in Pidd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- ACAGAGAACCATTTCAGTGCC -3'
(R):5'- ACCTAGAGACCCAACTGGAG -3'
Sequencing Primer
(F):5'- AGAACCATTTCAGTGCCCTCCTG -3'
(R):5'- CCCAACTGGAGGAAGAGGCAC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation