Mutagenetix > Incidental Mutation

Incidental Mutation 'R7133:Pidd1'

552826

Institutional Source

Beutler Lab

Gene Symbol

Pidd1

Ensembl Gene

ENSMUSG00000025507

Gene Name

p53 induced death domain protein 1

Synonyms

Lrdd, Pidd, 1200011D09Rik

MMRRC Submission

045218-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141018026-141023938 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141019813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 650 (S650G)

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

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 benign
Transcript: ENSMUST00000026580
AA Change: S650G

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000026580
Gene: ENSMUSG00000025507
AA Change: S650G

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 benign
Transcript: ENSMUST00000106005
AA Change: S650G

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101627
Gene: ENSMUSG00000025507
AA Change: S650G

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

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

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: 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: 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (91/93)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 78,902,473 (GRCm39)	K614N	probably benign	Het
2610008E11Rik	T	G	10: 78,902,474 (GRCm39)	K614T	probably benign	Het
Ahsa1	T	A	12: 87,317,116 (GRCm39)	S120R	probably benign	Het
Anapc16	G	A	10: 59,832,302 (GRCm39)	T37I	possibly damaging	Het
Arid2	C	A	15: 96,276,756 (GRCm39)	P1606H	probably damaging	Het
Ash1l	TATCTCCTTTTCCAAAAA	TA	3: 88,890,764 (GRCm39)		probably null	Het
Asic1	T	A	15: 99,569,968 (GRCm39)	N96K	probably damaging	Het
Asph	A	T	4: 9,484,575 (GRCm39)	D582E	probably benign	Het
Astn1	A	G	1: 158,400,557 (GRCm39)	D528G	probably damaging	Het
Atp9b	A	G	18: 80,952,871 (GRCm39)	V164A		Het
Cbx6	C	T	15: 79,712,866 (GRCm39)	G187D	possibly damaging	Het
Cct7	A	G	6: 85,443,627 (GRCm39)	T332A	probably benign	Het
Clca4a	A	T	3: 144,667,651 (GRCm39)	L440*	probably null	Het
Crybg2	A	T	4: 133,792,754 (GRCm39)	I130F	probably benign	Het
Crybg3	T	C	16: 59,357,167 (GRCm39)	E798G	probably damaging	Het
Ctnnd2	A	G	15: 30,480,995 (GRCm39)	E81G	possibly damaging	Het
Cwc22	C	T	2: 77,759,822 (GRCm39)	R75H	possibly damaging	Het
Cym	T	G	3: 107,121,530 (GRCm39)	D254A	probably damaging	Het
Dcaf11	T	A	14: 55,806,383 (GRCm39)		probably null	Het
Dctn1	A	T	6: 83,157,026 (GRCm39)		probably null	Het
Dennd5a	C	T	7: 109,495,449 (GRCm39)		probably null	Het
Dmpk	T	A	7: 18,821,232 (GRCm39)	C217S	probably damaging	Het
Dnah1	C	A	14: 31,008,033 (GRCm39)	V2125L	probably benign	Het
Exoc4	G	A	6: 33,415,408 (GRCm39)	A427T	probably benign	Het
Farp2	G	T	1: 93,548,956 (GRCm39)	V1021F	probably damaging	Het
Flg2	T	C	3: 93,127,069 (GRCm39)	S1994P	unknown	Het
Fmnl1	T	C	11: 103,072,610 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,479,760 (GRCm39)	I1978F	possibly damaging	Het
Gan	T	A	8: 117,913,969 (GRCm39)	C122*	probably null	Het
Gpr25	T	A	1: 136,188,559 (GRCm39)	Y18F	probably damaging	Het
Hoxa7	C	T	6: 52,192,720 (GRCm39)	E223K	probably benign	Het
Hypk	A	G	2: 121,283,961 (GRCm39)		probably null	Het
Ibsp	A	T	5: 104,450,172 (GRCm39)	K27*	probably null	Het
Ighv6-5	T	A	12: 114,380,395 (GRCm39)	T41S	probably benign	Het
Ighv9-4	T	C	12: 114,263,757 (GRCm39)	M59V	probably benign	Het
Il17rb	T	C	14: 29,718,828 (GRCm39)	D418G	probably damaging	Het
Ints5	T	A	19: 8,872,923 (GRCm39)	V294E	probably damaging	Het
Irx6	G	A	8: 93,405,041 (GRCm39)	C303Y	probably damaging	Het
Itih3	T	A	14: 30,639,655 (GRCm39)	I389F	probably damaging	Het
Lama1	C	T	17: 68,089,141 (GRCm39)	T1604I		Het
Lama3	C	A	18: 12,672,843 (GRCm39)	Q873K	probably benign	Het
Lhx1	T	G	11: 84,410,746 (GRCm39)	S284R	probably benign	Het
Lrba	T	A	3: 86,302,238 (GRCm39)		probably null	Het
Lrg1	C	T	17: 56,427,592 (GRCm39)	G127R	possibly damaging	Het
Macir	G	A	1: 97,573,645 (GRCm39)	P140L	probably benign	Het
Mapre1	T	A	2: 153,606,883 (GRCm39)	L205H	probably benign	Het
Meltf	A	G	16: 31,711,617 (GRCm39)	N581S	probably damaging	Het
Mgat5	A	C	1: 127,292,926 (GRCm39)	M149L	probably benign	Het
Myh1	A	G	11: 67,093,412 (GRCm39)	T168A	probably benign	Het
Naalad2	C	T	9: 18,238,673 (GRCm39)	V681I	probably benign	Het
Or51e2	A	G	7: 102,391,524 (GRCm39)	S229P	probably damaging	Het
Or52r1c	T	A	7: 102,735,205 (GRCm39)	L155Q	probably damaging	Het
Pcnx2	T	C	8: 126,528,243 (GRCm39)	T1326A	probably benign	Het
Peg3	A	T	7: 6,711,944 (GRCm39)	C1093S	probably damaging	Het
Pik3c2b	T	C	1: 133,017,972 (GRCm39)	S945P	possibly damaging	Het
Plec	T	C	15: 76,060,227 (GRCm39)	T3237A	possibly damaging	Het
Prpf3	A	T	3: 95,741,052 (GRCm39)		probably null	Het
Prpf4b	C	A	13: 35,085,477 (GRCm39)	H974Q	probably benign	Het
Ptpn3	T	C	4: 57,225,863 (GRCm39)	T451A	probably benign	Het
Ptprs	A	G	17: 56,724,429 (GRCm39)	Y1577H	probably damaging	Het
Rgr	C	T	14: 36,770,882 (GRCm39)	M1I	probably null	Het
Rxrg	A	T	1: 167,458,678 (GRCm39)	N257I	probably benign	Het
Sbno2	T	C	10: 79,922,146 (GRCm39)	D9G	probably damaging	Het
Scd1	T	C	19: 44,395,034 (GRCm39)	K64E	probably damaging	Het
Serpinb1a	T	A	13: 33,034,308 (GRCm39)	I28F	possibly damaging	Het
Sfmbt2	A	T	2: 10,406,818 (GRCm39)	E39V	probably damaging	Het
Slc29a1	A	G	17: 45,900,897 (GRCm39)	M89T	possibly damaging	Het
Slco4a1	T	A	2: 180,113,856 (GRCm39)	V431E	possibly damaging	Het
Smg1	C	T	7: 117,752,131 (GRCm39)	C2698Y	unknown	Het
Sptlc2	C	T	12: 87,397,151 (GRCm39)	D212N	probably benign	Het
St6galnac1	T	C	11: 116,657,899 (GRCm39)	T334A	possibly damaging	Het
Stim2	A	T	5: 54,156,263 (GRCm39)	D13V	possibly damaging	Het
Syne1	A	G	10: 5,181,592 (GRCm39)	W4248R	probably damaging	Het
Tanc1	T	C	2: 59,627,953 (GRCm39)	Y584H	probably benign	Het
Thoc6	C	A	17: 23,892,634 (GRCm39)		probably null	Het
Trim30a	T	A	7: 104,078,533 (GRCm39)	N181I	possibly damaging	Het
Trip11	T	A	12: 101,850,329 (GRCm39)	Q1245L	probably damaging	Het
Tshz3	A	G	7: 36,469,994 (GRCm39)	D661G	probably benign	Het
Ttll8	C	A	15: 88,799,630 (GRCm39)	V604L	probably damaging	Het
Ubtfl1	A	G	9: 18,320,931 (GRCm39)	D153G	probably damaging	Het
Ufsp2	C	A	8: 46,436,661 (GRCm39)	N137K	probably benign	Het
Ugt2a3	A	G	5: 87,473,393 (GRCm39)	I508T	possibly damaging	Het
Uso1	G	A	5: 92,306,324 (GRCm39)	E94K	probably benign	Het
Usp54	A	G	14: 20,611,310 (GRCm39)	S1169P	probably benign	Het
Vmn1r235	C	T	17: 21,482,292 (GRCm39)	P206S	probably benign	Het
Vmn1r69	T	C	7: 10,314,995 (GRCm39)		probably benign	Het
Zfp263	T	A	16: 3,567,255 (GRCm39)	C523*	probably null	Het
Zfp799	G	T	17: 33,039,210 (GRCm39)	T352K	probably benign	Het
Zfr	T	A	15: 12,180,724 (GRCm39)	V951E	probably damaging	Het
Zfyve26	T	C	12: 79,330,926 (GRCm39)	D431G	probably benign	Het
Zswim9	C	A	7: 12,993,664 (GRCm39)	A831S	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
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
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'- ATTCTGCCATCCACACAGTC -3'
(R):5'- AATCTCATTGCACTGCAGAGG -3'

Sequencing Primer
(F):5'- ATCCACACAGTCTGGACGGTC -3'
(R):5'- TGCAGAGGCGCCGAGAC -3'

Posted On

2019-05-15