Mutagenetix > Incidental Mutation

Incidental Mutation 'R7347:Pid1'

570246

Institutional Source

Beutler Lab

Gene Symbol

Pid1

Ensembl Gene

ENSMUSG00000045658

Gene Name

phosphotyrosine interaction domain containing 1

Synonyms

5033414K04Rik

MMRRC Submission

045374-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R7347 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84014014-84317550 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84136850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 94 (I94L)

Ref Sequence

ENSEMBL: ENSMUSP00000135120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168574] [ENSMUST00000175996] [ENSMUST00000176559] [ENSMUST00000176720] [ENSMUST00000176822] [ENSMUST00000177458]

AlphaFold

Q3UBG2

Predicted Effect

probably benign
Transcript: ENSMUST00000168574

SMART Domains

Protein: ENSMUSP00000127716
Gene: ENSMUSG00000045658

Domain	Start	End	E-Value	Type
Pfam:PID_2	57	213	2.5e-21	PFAM
Pfam:PID	59	196	1.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175996

Predicted Effect

probably benign
Transcript: ENSMUST00000176559

SMART Domains

Protein: ENSMUSP00000135164
Gene: ENSMUSG00000045658

Domain	Start	End	E-Value	Type
Pfam:PID_2	43	198	3.7e-21	PFAM
Pfam:PID	45	182	6.5e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176720

Predicted Effect

probably benign
Transcript: ENSMUST00000176822

Predicted Effect

unknown
Transcript: ENSMUST00000177458
AA Change: I94L

Meta Mutation Damage Score

0.0852

Coding Region Coverage

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

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930564D02Rik	G	T	3: 104,985,728 (GRCm39)	R47S	unknown	Het
Abtb2	T	G	2: 103,397,757 (GRCm39)	I229S	probably damaging	Het
Adgre1	T	C	17: 57,727,441 (GRCm39)	L457P	probably damaging	Het
Amer3	C	A	1: 34,626,983 (GRCm39)	D407E	probably damaging	Het
Arhgap20	T	C	9: 51,760,335 (GRCm39)	S729P	probably benign	Het
Asap2	T	G	12: 21,279,458 (GRCm39)	I418S	probably benign	Het
Atp5mf	T	C	5: 145,125,295 (GRCm39)		probably null	Het
Brinp3	T	A	1: 146,777,824 (GRCm39)	V757E	probably benign	Het
Brip1	C	T	11: 86,029,929 (GRCm39)	G572R	probably benign	Het
C3	C	A	17: 57,530,215 (GRCm39)	R462L	probably benign	Het
Cat	T	A	2: 103,293,643 (GRCm39)	H395L	probably benign	Het
Ccdc168	G	T	1: 44,098,656 (GRCm39)	P814Q	probably damaging	Het
Cela3a	T	C	4: 137,129,917 (GRCm39)	N235D	possibly damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cntnap1	G	T	11: 101,076,094 (GRCm39)	G993W	probably damaging	Het
Col9a1	A	G	1: 24,218,484 (GRCm39)		probably null	Het
Coro2b	G	T	9: 62,396,654 (GRCm39)	H29N	probably benign	Het
Dll3	C	T	7: 27,998,536 (GRCm39)	R143H	probably damaging	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Dync1i1	T	A	6: 5,784,530 (GRCm39)	*114R	probably null	Het
Ecm2	T	C	13: 49,668,554 (GRCm39)	S86P	probably damaging	Het
Eif5	T	C	12: 111,506,724 (GRCm39)		probably benign	Het
Ets1	T	A	9: 32,644,328 (GRCm39)		probably null	Het
Exph5	A	G	9: 53,287,196 (GRCm39)	N1426D	possibly damaging	Het
Eya2	T	C	2: 165,529,586 (GRCm39)	F110L	probably benign	Het
Flt1	T	A	5: 147,517,191 (GRCm39)	E1032V	probably damaging	Het
Galnt5	A	T	2: 57,907,205 (GRCm39)	H556L	probably benign	Het
Glb1l3	A	T	9: 26,740,299 (GRCm39)	Y344N	probably benign	Het
Glrx3	C	A	7: 137,061,015 (GRCm39)	D216E	possibly damaging	Het
Gm45871	T	A	18: 90,609,499 (GRCm39)	C246S	probably damaging	Het
Gstm4	A	G	3: 107,949,689 (GRCm39)	L137P	probably benign	Het
Hsd17b13	T	C	5: 104,116,616 (GRCm39)	T169A	probably damaging	Het
Hydin	A	C	8: 111,326,994 (GRCm39)	T4778P	probably benign	Het
Ifna15	A	G	4: 88,476,220 (GRCm39)	L88P	probably damaging	Het
Inhca	T	A	9: 103,159,845 (GRCm39)	E22V	possibly damaging	Het
Kcnab1	G	A	3: 65,283,952 (GRCm39)	R390H	probably benign	Het
Kng1	C	A	16: 22,886,537 (GRCm39)	H161N	possibly damaging	Het
Lamp5	T	C	2: 135,902,878 (GRCm39)	V199A	probably benign	Het
Lrig3	G	A	10: 125,845,835 (GRCm39)	V755M	probably damaging	Het
Mad1l1	C	T	5: 140,129,799 (GRCm39)	R412H	probably damaging	Het
Marchf6	C	A	15: 31,486,505 (GRCm39)	C350F	probably benign	Het
Mastl	A	G	2: 23,023,401 (GRCm39)	S441P	probably damaging	Het
Mfsd13b	A	T	7: 120,590,951 (GRCm39)	M231L	probably benign	Het
Mical2	T	C	7: 111,981,358 (GRCm39)	V444A	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo15a	A	G	11: 60,368,787 (GRCm39)	M516V	probably benign	Het
Myo1b	A	T	1: 51,790,413 (GRCm39)	F1110L	probably damaging	Het
Nbr1	T	A	11: 101,460,147 (GRCm39)	L381*	probably null	Het
Nln	T	C	13: 104,187,355 (GRCm39)	K325E	probably damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Nrp2	C	T	1: 62,784,663 (GRCm39)	P271S	probably benign	Het
Obox6	A	C	7: 15,568,571 (GRCm39)	L102V	possibly damaging	Het
Or4a69	T	C	2: 89,312,799 (GRCm39)	S227G	probably benign	Het
Or4p8	T	C	2: 88,727,615 (GRCm39)	I109V	possibly damaging	Het
Or7g33	A	G	9: 19,448,395 (GRCm39)	M277T	probably damaging	Het
Or8k16	T	C	2: 85,520,181 (GRCm39)	M136T	probably damaging	Het
Pde10a	A	G	17: 9,186,294 (GRCm39)	H567R	probably damaging	Het
Pdgfra	C	T	5: 75,343,759 (GRCm39)	S760L	possibly damaging	Het
Plekhn1	T	C	4: 156,307,128 (GRCm39)	H474R	probably benign	Het
Prcc	A	T	3: 87,776,988 (GRCm39)	S329T	possibly damaging	Het
Pros1	G	T	16: 62,739,886 (GRCm39)	R445L	probably damaging	Het
Pxdn	C	A	12: 30,062,260 (GRCm39)	H1370Q	probably benign	Het
Sgce	T	A	6: 4,694,106 (GRCm39)	R283S	probably damaging	Het
Slc25a20	T	G	9: 108,559,657 (GRCm39)		probably null	Het
Slc6a1	T	C	6: 114,288,779 (GRCm39)	V446A	probably damaging	Het
Slc6a4	C	G	11: 76,907,911 (GRCm39)	Y358*	probably null	Het
Sned1	A	C	1: 93,209,458 (GRCm39)	E857A	probably damaging	Het
Spata31e2	A	T	1: 26,723,548 (GRCm39)	L544Q	probably benign	Het
Spata31e3	T	C	13: 50,399,780 (GRCm39)	I849V	probably benign	Het
Spdye4b	C	T	5: 143,188,145 (GRCm39)	R213C	possibly damaging	Het
Spry2	T	G	14: 106,130,946 (GRCm39)	E80A	probably damaging	Het
Stard9	G	A	2: 120,497,015 (GRCm39)	C142Y	probably benign	Het
Sync	A	T	4: 129,188,099 (GRCm39)	Q377L	probably benign	Het
Tdrd12	A	G	7: 35,185,117 (GRCm39)	C718R		Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tmbim1	T	C	1: 74,330,438 (GRCm39)	E185G	probably benign	Het
Tyk2	T	C	9: 21,019,330 (GRCm39)	M1031V	probably damaging	Het
Vmn1r71	C	T	7: 10,482,428 (GRCm39)	V87I	not run	Het
Vmn2r49	A	G	7: 9,720,741 (GRCm39)	V250A	probably benign	Het
Yipf3	A	C	17: 46,561,753 (GRCm39)	T187P	probably damaging	Het
Zfp148	G	T	16: 33,255,160 (GRCm39)	R50L	possibly damaging	Het
Zfp628	G	A	7: 4,924,817 (GRCm39)	G1013E	probably damaging	Het

Other mutations in Pid1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Pid1	APN	1	84,016,227 (GRCm39)	missense	probably damaging	0.98
IGL01357:Pid1	APN	1	84,016,026 (GRCm39)	missense	probably damaging	1.00
R0976:Pid1	UTSW	1	84,136,946 (GRCm39)	missense	probably benign	0.01
R1365:Pid1	UTSW	1	84,015,862 (GRCm39)	missense	probably damaging	0.97
R2202:Pid1	UTSW	1	84,016,159 (GRCm39)	missense	probably damaging	0.97
R3772:Pid1	UTSW	1	84,015,918 (GRCm39)	missense	probably damaging	1.00
R4947:Pid1	UTSW	1	84,015,981 (GRCm39)	missense	possibly damaging	0.65
R7937:Pid1	UTSW	1	84,093,745 (GRCm39)	missense	probably benign	0.00
R8083:Pid1	UTSW	1	84,015,970 (GRCm39)	missense	probably benign	0.01
R8170:Pid1	UTSW	1	84,262,721 (GRCm39)	splice site	probably null
R8755:Pid1	UTSW	1	84,016,066 (GRCm39)	missense	probably damaging	1.00
R8847:Pid1	UTSW	1	84,093,694 (GRCm39)	missense	unknown
R9114:Pid1	UTSW	1	84,015,955 (GRCm39)	missense	probably damaging	1.00
R9364:Pid1	UTSW	1	84,137,032 (GRCm39)	missense	probably benign	0.01
R9554:Pid1	UTSW	1	84,137,032 (GRCm39)	missense	probably benign	0.01
Z1088:Pid1	UTSW	1	84,093,735 (GRCm39)	missense	probably benign	0.00
Z1177:Pid1	UTSW	1	84,016,192 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AATTCAAAGTTCCATATAGCCACTC -3'
(R):5'- CTTCCAGACCATGCTGAAGTC -3'

Sequencing Primer
(F):5'- GTTCCATATAGCCACTCAAAGAACAG -3'
(R):5'- CCAGACCATGCTGAAGTCTAAGTTG -3'

Posted On

2019-09-13