Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01357:Pid1'

75582

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pid1

Ensembl Gene

ENSMUSG00000045658

Gene Name

phosphotyrosine interaction domain containing 1

Synonyms

5033414K04Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01357

Quality Score

Status

Chromosome

Chromosomal Location

84014014-84317550 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84016026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 113 (T113I)

Ref Sequence

ENSEMBL: ENSMUSP00000135164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168574] [ENSMUST00000176559]

AlphaFold

Q3UBG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000168574
AA Change: T127I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127716
Gene: ENSMUSG00000045658
AA Change: T127I

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

noncoding transcript
Transcript: ENSMUST00000175948

Predicted Effect

probably damaging
Transcript: ENSMUST00000176559
AA Change: T113I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135164
Gene: ENSMUSG00000045658
AA Change: T113I

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	C	A	8: 125,366,072 (GRCm39)	V224F	probably damaging	Het
Abca4	T	A	3: 121,897,232 (GRCm39)	M637K	probably damaging	Het
Abca8a	A	G	11: 109,922,398 (GRCm39)	V1395A	probably benign	Het
Adam20	A	C	8: 41,249,597 (GRCm39)	D569A	probably benign	Het
Axl	A	G	7: 25,473,594 (GRCm39)	L344P	probably benign	Het
B3gat1	T	C	9: 26,668,283 (GRCm39)	L291P	probably damaging	Het
Cdc25c	A	T	18: 34,867,910 (GRCm39)		probably null	Het
Crat	A	T	2: 30,297,736 (GRCm39)	Y263N	probably damaging	Het
Crb2	A	G	2: 37,685,523 (GRCm39)		probably benign	Het
Dhx33	G	A	11: 70,884,687 (GRCm39)	Q40*	probably null	Het
Dnah7a	A	T	1: 53,701,540 (GRCm39)	V205D	probably benign	Het
Emsy	A	T	7: 98,240,077 (GRCm39)	Y1011*	probably null	Het
Fbln5	C	T	12: 101,717,146 (GRCm39)	S414N	probably damaging	Het
Fev	T	C	1: 74,921,683 (GRCm39)	E89G	possibly damaging	Het
Fgg	A	G	3: 82,921,535 (GRCm39)	E406G	possibly damaging	Het
Glra1	A	T	11: 55,405,715 (GRCm39)	M425K	possibly damaging	Het
Gm8214	C	T	1: 183,414,129 (GRCm39)		noncoding transcript	Het
Kdm3b	A	G	18: 34,926,067 (GRCm39)	E69G	probably damaging	Het
Kntc1	T	A	5: 123,895,877 (GRCm39)	V89E	probably damaging	Het
L3mbtl3	T	A	10: 26,206,083 (GRCm39)	N361I	unknown	Het
Macrod2	A	G	2: 142,226,250 (GRCm39)	N457S	probably damaging	Het
Mal	C	A	2: 127,482,234 (GRCm39)	M56I	probably damaging	Het
Mfsd5	C	T	15: 102,189,882 (GRCm39)	T418M	probably benign	Het
Mmaa	C	A	8: 79,994,600 (GRCm39)	R402L	probably benign	Het
Myo15a	T	C	11: 60,393,115 (GRCm39)		probably benign	Het
Nme1	A	G	11: 93,850,317 (GRCm39)	S122P	possibly damaging	Het
Nxt1	A	G	2: 148,517,316 (GRCm39)	E19G	probably damaging	Het
Nynrin	A	T	14: 56,107,874 (GRCm39)	T994S	probably benign	Het
Orc2	T	G	1: 58,536,551 (GRCm39)	E56D	probably benign	Het
Orc2	T	C	1: 58,536,552 (GRCm39)	E56G	probably benign	Het
Plcg2	G	A	8: 118,340,900 (GRCm39)		probably benign	Het
Rad50	A	G	11: 53,597,848 (GRCm39)	V12A	probably damaging	Het
Serpinb9c	C	T	13: 33,335,862 (GRCm39)	V197I	probably benign	Het
Sfxn2	A	T	19: 46,574,212 (GRCm39)	N134I	probably damaging	Het
Spen	T	C	4: 141,244,424 (GRCm39)	R204G	unknown	Het
Strip2	A	G	6: 29,939,166 (GRCm39)		probably benign	Het
Tas2r135	A	T	6: 42,383,078 (GRCm39)	I206L	probably benign	Het
Tmem243	A	G	5: 9,151,348 (GRCm39)	T11A	probably damaging	Het
Tmprss11c	A	G	5: 86,379,666 (GRCm39)	V401A	probably damaging	Het
Trim50	T	A	5: 135,392,808 (GRCm39)	I241N	probably damaging	Het
Ttn	A	C	2: 76,781,864 (GRCm39)	S1015A	possibly damaging	Het
Wee1	T	C	7: 109,741,242 (GRCm39)	S622P	probably benign	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
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
R7347:Pid1	UTSW	1	84,136,850 (GRCm39)	missense	unknown
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

Posted On

2013-10-07