Mutagenetix > Incidental Mutations

Incidental Mutation 'R0650:Pidd1'

62215

Institutional Source

Beutler Lab

Gene Symbol

Pidd1

Ensembl Gene

ENSMUSG00000025507

Gene Name

p53 induced death domain protein 1

Synonyms

1200011D09Rik, Lrdd, Pidd

MMRRC Submission

038835-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0650 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141438113-141444025 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 141440813 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 457 (L457*)

Ref Sequence

ENSEMBL: ENSMUSP00000101627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019226] [ENSMUST00000026580] [ENSMUST00000106005] [ENSMUST00000106006] [ENSMUST00000124266] [ENSMUST00000128703] [ENSMUST00000190068] [ENSMUST00000201822] [ENSMUST00000190882] [ENSMUST00000201710] [ENSMUST00000172654]

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 null
Transcript: ENSMUST00000026580
AA Change: L457*

SMART Domains

Protein: ENSMUSP00000026580
Gene: ENSMUSG00000025507
AA Change: L457*

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 null
Transcript: ENSMUST00000106005
AA Change: L457*

SMART Domains

Protein: ENSMUSP00000101627
Gene: ENSMUSG00000025507
AA Change: L457*

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: ENSMUST00000131621

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138065

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154949

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: 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: 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: 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

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

99% (77/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N15Rik	A	G	X: 69,945,785	S96G	unknown	Het
4930447C04Rik	T	C	12: 72,910,056	D120G	probably damaging	Het
4930548H24Rik	T	C	5: 31,485,968		probably benign	Het
Adgrg5	T	A	8: 94,934,157		probably null	Het
Afg3l2	G	T	18: 67,415,557	H534Q	possibly damaging	Het
Ankar	G	A	1: 72,656,221		probably benign	Het
Arid2	T	A	15: 96,402,049	F1814L	possibly damaging	Het
Asb15	C	T	6: 24,566,164	A372V	probably damaging	Het
Atg16l1	A	T	1: 87,781,699	D403V	possibly damaging	Het
BC024978	A	T	7: 27,202,647	H233L	probably damaging	Het
Bnc2	T	C	4: 84,293,196	D407G	probably benign	Het
Cdan1	A	G	2: 120,726,045	V633A	probably benign	Het
Cfap46	T	C	7: 139,605,655	Y2482C	unknown	Het
Chd8	T	C	14: 52,202,304	E964G	probably benign	Het
Cyp2s1	A	G	7: 25,809,258	V253A	probably damaging	Het
Depdc1b	A	G	13: 108,323,909	N18D	probably damaging	Het
Fis1	T	A	5: 136,962,194	V4E	probably damaging	Het
Gba2	T	A	4: 43,570,424		probably null	Het
Gm2381	C	T	7: 42,820,080	G207R	probably damaging	Het
Gpr89	T	A	3: 96,897,324		probably benign	Het
Gtf2i	A	G	5: 134,261,837		probably benign	Het
Herc2	T	G	7: 56,113,210	S896A	probably damaging	Het
Huwe1	T	C	X: 151,876,313	S921P	probably damaging	Het
Iqgap1	T	A	7: 80,736,395	K936I	probably damaging	Het
Kcna4	T	A	2: 107,295,582	Y220*	probably null	Het
Krt18	A	G	15: 102,029,485	D139G	possibly damaging	Het
Krt83	T	C	15: 101,487,040	N392D	probably damaging	Het
L3mbtl4	G	A	17: 68,774,291	C558Y	probably damaging	Het
Lamc2	T	A	1: 153,143,876	I440F	possibly damaging	Het
Lrrc28	T	C	7: 67,618,085	N98S	probably damaging	Het
Lrrk1	G	A	7: 66,292,336	A718V	probably damaging	Het
Mrgprx2	T	C	7: 48,482,918	I51V	probably damaging	Het
Myt1	A	T	2: 181,782,615	R25*	probably null	Het
Npdc1	C	T	2: 25,408,009	T199I	probably benign	Het
Nup98	T	A	7: 102,152,453	Y755F	probably damaging	Het
Olfr494	T	A	7: 108,367,789	C100S	probably damaging	Het
Olfr502	G	T	7: 108,523,082	N289K	probably damaging	Het
Olfr638	A	G	7: 104,003,239		probably null	Het
Olfr936	T	A	9: 39,046,700	M240L	probably benign	Het
Osgin1	A	T	8: 119,445,472	Y335F	probably damaging	Het
Pde10a	A	T	17: 8,942,965	I493F	probably damaging	Het
Pdgfrb	A	G	18: 61,079,708	I895V	probably benign	Het
Peg10	T	TCCCCANNANNNN	6: 4,756,475		probably benign	Het
Pik3c2a	A	G	7: 116,346,247		probably benign	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Plcg1	C	T	2: 160,753,363		probably benign	Het
Prr13	A	C	15: 102,462,215	*138C	probably null	Het
Prrc2b	T	C	2: 32,229,255		probably benign	Het
Psph	T	C	5: 129,791,570		probably benign	Het
Ripor1	A	G	8: 105,618,114		probably benign	Het
Scg3	A	G	9: 75,669,335	S253P	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Sgk1	A	G	10: 21,882,657	N7D	probably damaging	Het
Skor2	T	C	18: 76,876,560	F940L	probably benign	Het
Slbp	T	C	5: 33,645,489		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Susd5	A	T	9: 114,082,535	H171L	possibly damaging	Het
Sybu	T	C	15: 44,673,268	E354G	probably benign	Het
Synpo	T	C	18: 60,602,340	N845D	possibly damaging	Het
Tdrd6	A	T	17: 43,628,159	I666N	probably damaging	Het
Tm9sf4	T	C	2: 153,187,365	I111T	probably benign	Het
Tnc	T	C	4: 64,008,734	T852A	probably benign	Het
Tnfrsf10b	T	A	14: 69,776,176	I185K	probably damaging	Het
Tnks1bp1	A	G	2: 85,062,630	E305G	possibly damaging	Het
Tnrc6b	T	C	15: 80,784,758	V22A	probably benign	Het
Ttn	A	T	2: 76,768,612	F19319Y	probably damaging	Het
Ubr5	T	C	15: 38,030,807		probably benign	Het
Ugt2b5	T	A	5: 87,139,768	Q191L	probably benign	Het
Urod	T	C	4: 116,991,276	T300A	probably benign	Het
Vmn1r213	A	G	13: 23,011,394		probably benign	Het
Znfx1	G	A	2: 167,047,654	Q723*	probably null	Het

Other mutations in Pidd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02751:Pidd1	APN	7	141439163	missense	possibly damaging	0.93
IGL02794:Pidd1	APN	7	141443108	missense	probably benign	0.00
IGL03083:Pidd1	APN	7	141440456	critical splice donor site	probably null
IGL03347:Pidd1	APN	7	141439168	missense	probably damaging	0.97
R0329:Pidd1	UTSW	7	141439561	unclassified	probably benign
R0426:Pidd1	UTSW	7	141439133	missense	probably damaging	1.00
R0651:Pidd1	UTSW	7	141440813	nonsense	probably null
R1201:Pidd1	UTSW	7	141440274	missense	probably benign
R1221:Pidd1	UTSW	7	141438812	missense	probably damaging	1.00
R1613:Pidd1	UTSW	7	141440777	missense	probably damaging	1.00
R1763:Pidd1	UTSW	7	141439630	missense	probably benign
R3967:Pidd1	UTSW	7	141439082	missense	possibly damaging	0.86
R4072:Pidd1	UTSW	7	141440826	missense	probably damaging	1.00
R4073:Pidd1	UTSW	7	141440826	missense	probably damaging	1.00
R4075:Pidd1	UTSW	7	141440826	missense	probably damaging	1.00
R4076:Pidd1	UTSW	7	141440826	missense	probably damaging	1.00
R4157:Pidd1	UTSW	7	141441366	missense	possibly damaging	0.87
R4501:Pidd1	UTSW	7	141441443	unclassified	probably benign
R4700:Pidd1	UTSW	7	141442249	missense	probably damaging	1.00
R4797:Pidd1	UTSW	7	141442986	missense	possibly damaging	0.92
R4985:Pidd1	UTSW	7	141438591	makesense	probably null
R5402:Pidd1	UTSW	7	141438594	missense	probably damaging	1.00
R5684:Pidd1	UTSW	7	141441111	splice site	probably null
R5790:Pidd1	UTSW	7	141441392	unclassified	probably benign
R5909:Pidd1	UTSW	7	141441270	missense	probably damaging	1.00
R6275:Pidd1	UTSW	7	141439795	missense	probably damaging	1.00
R6582:Pidd1	UTSW	7	141439581	missense	probably damaging	1.00
R6814:Pidd1	UTSW	7	141439418	missense	probably benign	0.34
R6872:Pidd1	UTSW	7	141439418	missense	probably benign	0.34
R6935:Pidd1	UTSW	7	141440302	missense	probably damaging	1.00
R7088:Pidd1	UTSW	7	141440487	missense	probably damaging	1.00
R7133:Pidd1	UTSW	7	141439900	missense	probably benign	0.05
R7544:Pidd1	UTSW	7	141440339	missense	possibly damaging	0.81
R7821:Pidd1	UTSW	7	141442280	missense	probably benign	0.36
R7861:Pidd1	UTSW	7	141440142	missense	probably damaging	1.00
R7903:Pidd1	UTSW	7	141439831	missense	probably damaging	0.99
R8218:Pidd1	UTSW	7	141439653	missense	probably damaging	1.00
Z1176:Pidd1	UTSW	7	141440361	missense	probably benign	0.03
Z1177:Pidd1	UTSW	7	141438696	missense	probably damaging	1.00
Z1177:Pidd1	UTSW	7	141441016	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGAGAACCATTTCAGTGCCCTCC -3'
(R):5'- TGGCTTTCCAGCAAGTATGTCCAG -3'

Sequencing Primer
(F):5'- TCCTGTCTGCTGAGGCAC -3'
(R):5'- ACACTATTGTGGCCTACAGG -3'

Posted On

2013-07-30