Mutagenetix > Incidental Mutations

Incidental Mutation 'R0426:Pidd1'

38653

Institutional Source

Beutler Lab

Gene Symbol

Pidd1

Ensembl Gene

ENSMUSG00000025507

Gene Name

p53 induced death domain protein 1

Synonyms

1200011D09Rik, Lrdd, Pidd

MMRRC Submission

038628-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0426 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141438113-141444025 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 141439133 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 812 (A812T)

Ref Sequence

ENSEMBL: ENSMUSP00000101627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019226] [ENSMUST00000026580] [ENSMUST00000106005] [ENSMUST00000106006] [ENSMUST00000106007] [ENSMUST00000124266] [ENSMUST00000128703] [ENSMUST00000133021] [ENSMUST00000133206] [ENSMUST00000136354] [ENSMUST00000138865] [ENSMUST00000150026] [ENSMUST00000172654] [ENSMUST00000184518] [ENSMUST00000190068] [ENSMUST00000190882] [ENSMUST00000201127] [ENSMUST00000201710] [ENSMUST00000201822] [ENSMUST00000202840]

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: A812T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026580
Gene: ENSMUSG00000025507
AA Change: A812T

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: A812T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101627
Gene: ENSMUSG00000025507
AA Change: A812T

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: ENSMUST00000106007

SMART Domains

Protein: ENSMUSP00000101629
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: 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: ENSMUST00000132635

Predicted Effect

probably benign
Transcript: ENSMUST00000133021

Predicted Effect

probably benign
Transcript: ENSMUST00000133206

Predicted Effect

probably benign
Transcript: ENSMUST00000136354

SMART Domains

Protein: ENSMUSP00000118948
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	98	1.2e-25	PFAM
Pfam:Mito_carr	99	206	2.2e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138065

Predicted Effect

probably benign
Transcript: ENSMUST00000138865

SMART Domains

Protein: ENSMUSP00000120721
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	98	1.4e-25	PFAM
Pfam:Mito_carr	99	214	1.8e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147268

Predicted Effect

probably benign
Transcript: ENSMUST00000150026

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154949

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: ENSMUST00000184518

SMART Domains

Protein: ENSMUSP00000138924
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	98	1.3e-26	PFAM

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

noncoding transcript
Transcript: ENSMUST00000190303

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

noncoding transcript
Transcript: ENSMUST00000201072

Predicted Effect

probably benign
Transcript: ENSMUST00000201127

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201558

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: 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: ENSMUST00000202840

SMART Domains

Protein: ENSMUSP00000144384
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	85	5.6e-23	PFAM

Meta Mutation Damage Score

0.3714

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (86/90)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	C	T	5: 107,510,373	T1603I	probably damaging	Het
Abca8b	G	T	11: 109,955,027		probably benign	Het
Acadl	A	T	1: 66,841,646	F320L	probably damaging	Het
Acsbg1	T	C	9: 54,622,746	D222G	probably benign	Het
Anapc15	A	G	7: 101,898,033	T39A	probably benign	Het
Ano3	A	T	2: 110,661,174	V919E	probably damaging	Het
Arhgef12	T	C	9: 42,970,990		probably null	Het
Atad5	T	A	11: 80,112,832	I1091N	probably benign	Het
Atf1	A	T	15: 100,232,827	H26L	possibly damaging	Het
Atp10a	T	C	7: 58,784,734	M252T	probably benign	Het
Cd55	C	T	1: 130,448,372	R347H	probably benign	Het
Cdc27	A	C	11: 104,513,027		probably null	Het
Cdh9	G	A	15: 16,823,454		probably null	Het
Cdk11b	T	C	4: 155,642,512		probably benign	Het
Cep70	A	G	9: 99,297,684	D567G	probably benign	Het
Cep78	A	T	19: 15,970,970	Y382*	probably null	Het
Col9a2	T	C	4: 121,044,660		probably benign	Het
Cyp2d12	G	A	15: 82,558,963	D409N	probably benign	Het
Ddx39	A	G	8: 83,721,769	T217A	probably benign	Het
Dennd1b	T	A	1: 139,170,196	D733E	probably benign	Het
Dicer1	A	G	12: 104,702,542	S1294P	probably damaging	Het
Dnah3	T	C	7: 119,943,572	E3539G	probably benign	Het
Dnmbp	A	G	19: 43,852,436		probably benign	Het
Dysf	T	C	6: 84,149,757	L1332P	probably damaging	Het
F5	A	G	1: 164,182,840	D380G	probably damaging	Het
Fam160a2	A	C	7: 105,389,473	C186W	probably damaging	Het
Fam171a1	T	C	2: 3,225,396	V522A	probably benign	Het
Galr2	C	A	11: 116,281,691	A69D	probably damaging	Het
Grk2	T	C	19: 4,290,600		probably null	Het
Gtf3c1	A	T	7: 125,663,016	Y1119*	probably null	Het
Hgd	A	T	16: 37,588,685		probably benign	Het
Ildr2	G	T	1: 166,308,899	V436L	probably benign	Het
Intu	G	A	3: 40,675,305	C355Y	probably damaging	Het
Irf2bpl	G	T	12: 86,883,096	P268T	probably benign	Het
Jarid2	T	C	13: 44,840,882		probably null	Het
Jup	A	T	11: 100,372,401	M716K	probably benign	Het
Kank1	G	A	19: 25,411,473	V809I	probably damaging	Het
Kdm1b	T	A	13: 47,064,244		probably benign	Het
Kdm3a	C	T	6: 71,600,755	C687Y	probably damaging	Het
Kdm5d	T	A	Y: 942,437		probably benign	Het
Kifap3	T	A	1: 163,865,552		probably benign	Het
Macf1	T	A	4: 123,483,660	K1400*	probably null	Het
Majin	A	G	19: 6,212,117		probably benign	Het
Mb21d1	G	A	9: 78,435,738		probably benign	Het
Mctp1	A	G	13: 77,020,821	I846V	probably benign	Het
Mrgpra2b	T	A	7: 47,464,127	I286F	possibly damaging	Het
Neil3	T	G	8: 53,609,396		probably benign	Het
Nox3	G	T	17: 3,695,563	N23K	probably damaging	Het
Nt5c3	T	C	6: 56,883,812	K219E	probably benign	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr213	A	T	6: 116,540,485	N11Y	probably damaging	Het
Olfr389	T	A	11: 73,776,437	M297L	probably benign	Het
Olfr524	A	C	7: 140,202,116	F218C	possibly damaging	Het
Olfr548-ps1	T	A	7: 102,542,686	I250N	probably damaging	Het
Olfr954	T	C	9: 39,461,593	L54P	probably damaging	Het
Pacsin2	A	G	15: 83,379,795	V347A	possibly damaging	Het
Pcdhb7	A	T	18: 37,342,804	E331V	probably damaging	Het
Pcid2	A	C	8: 13,081,262		probably null	Het
Pcsk9	T	C	4: 106,450,077	D323G	possibly damaging	Het
Pdhb	T	C	14: 8,169,801	E203G	probably damaging	Het
Phlpp2	A	G	8: 109,928,463	Y630C	probably benign	Het
Plau	G	A	14: 20,842,314	R389H	probably benign	Het
Plekhg6	G	A	6: 125,364,629		probably null	Het
Ppox	T	C	1: 171,277,749	Y321C	probably damaging	Het
Pxdn	A	G	12: 29,987,066	N281S	possibly damaging	Het
Pycrl	A	T	15: 75,918,388	M138K	probably benign	Het
Radil	T	C	5: 142,497,873	Y526C	probably damaging	Het
Ranbp3	C	A	17: 56,707,169	D233E	probably benign	Het
Rhpn1	A	G	15: 75,711,872	Q402R	possibly damaging	Het
Sec23b	T	A	2: 144,568,612		probably benign	Het
Sel1l2	A	T	2: 140,240,912	L602*	probably null	Het
Sema5b	G	A	16: 35,646,355	G209D	probably damaging	Het
Svep1	T	C	4: 58,073,333	Y1992C	possibly damaging	Het
Syncrip	T	A	9: 88,456,259		probably benign	Het
Synj1	G	T	16: 90,967,354	A65E	probably damaging	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tecrl	T	C	5: 83,354,763		probably benign	Het
Tenm4	G	T	7: 96,777,851	G698C	probably damaging	Het
Tmem209	G	A	6: 30,491,182	L259F	probably damaging	Het
Tmem247	G	A	17: 86,918,503	E124K	possibly damaging	Het
Tnks2	C	A	19: 36,852,821	A218E	probably damaging	Het
Tppp	T	A	13: 74,021,311	F57I	probably damaging	Het
Trim36	A	G	18: 46,172,525	W452R	probably damaging	Het
Vars2	A	T	17: 35,664,584	V262E	probably damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Zfp516	G	T	18: 82,955,772	A32S	probably benign	Het
Zfy2	G	T	Y: 2,107,348	L429I	possibly damaging	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
R0650:Pidd1	UTSW	7	141440813	nonsense	probably null
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
R7944:Pidd1	UTSW	7	141440142	missense	probably damaging	1.00
R7986:Pidd1	UTSW	7	141439831	missense	probably damaging	0.99
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'- AAGATGGCACGCACCTCTTCAG -3'
(R):5'- GGGTCCAAGCTTTCTGTATCCTTGC -3'

Sequencing Primer
(F):5'- CAAAAGTTCCTTGGGCTAGTGAC -3'
(R):5'- CTTGCCTCCTGACAGAGAC -3'

Posted On

2013-05-23