Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01304:Popdc3'

73344

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Popdc3

Ensembl Gene

ENSMUSG00000019848

Gene Name

popeye domain containing 3

Synonyms

Pop3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01304

Quality Score

Status

Chromosome

Chromosomal Location

45165401-45194546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 45194005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 269 (S269A)

Ref Sequence

ENSEMBL: ENSMUSP00000019994 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019994] [ENSMUST00000161803] [ENSMUST00000175658]

AlphaFold

Q9ES81

Predicted Effect

probably benign
Transcript: ENSMUST00000019994
AA Change: S269A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000019994
Gene: ENSMUSG00000019848
AA Change: S269A

Domain	Start	End	E-Value	Type
Pfam:Popeye	25	249	1.8e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161803

SMART Domains

Protein: ENSMUSP00000125532
Gene: ENSMUSG00000019848

Domain	Start	End	E-Value	Type
transmembrane domain	27	44	N/A	INTRINSIC
transmembrane domain	48	70	N/A	INTRINSIC
transmembrane domain	77	99	N/A	INTRINSIC
Pfam:Popeye	107	169	5.9e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175658

SMART Domains

Protein: ENSMUSP00000135373
Gene: ENSMUSG00000019848

Domain	Start	End	E-Value	Type
transmembrane domain	27	44	N/A	INTRINSIC
transmembrane domain	48	70	N/A	INTRINSIC
transmembrane domain	77	99	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,204,153 (GRCm39)	D79E	probably benign	Het
Aplf	A	C	6: 87,618,882 (GRCm39)	S421A	possibly damaging	Het
Arnt	T	G	3: 95,355,696 (GRCm39)	D13E	probably damaging	Het
Asap1	T	C	15: 64,184,298 (GRCm39)	E45G	probably damaging	Het
C2cd2l	T	C	9: 44,230,884 (GRCm39)	N101S	probably damaging	Het
Cby2	T	A	14: 75,830,085 (GRCm39)	D36V	possibly damaging	Het
Chmp7	G	A	14: 69,956,062 (GRCm39)	P402L	probably benign	Het
Cir1	A	T	2: 73,118,068 (GRCm39)		probably null	Het
Clock	A	G	5: 76,414,202 (GRCm39)		probably null	Het
Col18a1	T	G	10: 76,911,975 (GRCm39)		probably benign	Het
Csf2ra	G	A	19: 61,215,271 (GRCm39)	H115Y	possibly damaging	Het
Cspg5	T	A	9: 110,085,236 (GRCm39)	L469H	probably damaging	Het
Dapk2	T	C	9: 66,139,139 (GRCm39)		probably benign	Het
F13a1	T	C	13: 37,172,852 (GRCm39)	D176G	probably benign	Het
Fbn2	T	C	18: 58,194,817 (GRCm39)	E1448G	probably damaging	Het
Gtf2b	C	T	3: 142,487,359 (GRCm39)	S265L	probably benign	Het
Hmcn1	C	T	1: 150,498,675 (GRCm39)	G4068D	probably damaging	Het
Krt81	G	A	15: 101,361,269 (GRCm39)	H104Y	probably benign	Het
Ksr1	T	C	11: 78,918,468 (GRCm39)	Q562R	probably damaging	Het
Lrif1	C	T	3: 106,639,049 (GRCm39)	P20S	probably damaging	Het
Mamdc4	T	C	2: 25,453,588 (GRCm39)	T1194A	possibly damaging	Het
Med18	C	A	4: 132,186,930 (GRCm39)	A190S	probably damaging	Het
Mia2	G	A	12: 59,151,324 (GRCm39)	E105K	probably damaging	Het
Mnt	T	A	11: 74,733,011 (GRCm39)	Y48N	probably damaging	Het
Mpp4	A	C	1: 59,188,678 (GRCm39)		probably null	Het
Or4b1b	G	A	2: 90,112,425 (GRCm39)	P165S	possibly damaging	Het
Ppp6r3	A	T	19: 3,517,261 (GRCm39)	M662K	probably damaging	Het
Qser1	C	A	2: 104,617,976 (GRCm39)	Q945H	probably damaging	Het
Rad52	A	G	6: 119,895,594 (GRCm39)	E198G	probably damaging	Het
Ranbp17	A	G	11: 33,216,147 (GRCm39)	V867A	possibly damaging	Het
Rdh16	G	T	10: 127,649,365 (GRCm39)	A274S	probably benign	Het
Slco1a5	G	T	6: 142,187,876 (GRCm39)	Q488K	probably benign	Het
Snai2	T	C	16: 14,524,635 (GRCm39)	I47T	probably benign	Het
Snw1	T	C	12: 87,500,685 (GRCm39)	D358G	possibly damaging	Het
Speg	T	C	1: 75,404,841 (GRCm39)	F2878L	probably benign	Het
Spg11	T	C	2: 121,902,771 (GRCm39)	Y1386C	probably damaging	Het
Tgfb2	A	C	1: 186,357,670 (GRCm39)	I435S	probably damaging	Het
Ttc9b	G	A	7: 27,355,410 (GRCm39)	D227N	probably benign	Het
Txndc2	T	C	17: 65,945,448 (GRCm39)	E243G	possibly damaging	Het
Usp28	A	G	9: 48,938,119 (GRCm39)	D563G	probably damaging	Het
Vmn1r77	T	C	7: 11,775,962 (GRCm39)	V178A	probably damaging	Het
Zfp316	A	G	5: 143,240,181 (GRCm39)	F613L	probably benign	Het
Zfp870	A	T	17: 33,101,980 (GRCm39)	C450S	possibly damaging	Het

Other mutations in Popdc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Popdc3	APN	10	45,193,922 (GRCm39)	splice site	probably null
IGL01643:Popdc3	APN	10	45,190,976 (GRCm39)	missense	probably damaging	1.00
IGL02755:Popdc3	APN	10	45,191,314 (GRCm39)	missense	probably damaging	1.00
R0410:Popdc3	UTSW	10	45,193,829 (GRCm39)	missense	possibly damaging	0.95
R0586:Popdc3	UTSW	10	45,191,359 (GRCm39)	missense	probably benign	0.04
R0738:Popdc3	UTSW	10	45,191,354 (GRCm39)	missense	probably damaging	1.00
R1102:Popdc3	UTSW	10	45,192,642 (GRCm39)	unclassified	probably benign
R1649:Popdc3	UTSW	10	45,191,320 (GRCm39)	missense	probably damaging	1.00
R2026:Popdc3	UTSW	10	45,190,951 (GRCm39)	missense	probably damaging	1.00
R4720:Popdc3	UTSW	10	45,191,002 (GRCm39)	missense	probably benign	0.04
R5669:Popdc3	UTSW	10	45,192,529 (GRCm39)	missense	probably damaging	1.00
R5905:Popdc3	UTSW	10	45,194,015 (GRCm39)	missense	probably benign
R6028:Popdc3	UTSW	10	45,194,015 (GRCm39)	missense	probably benign
R7468:Popdc3	UTSW	10	45,191,117 (GRCm39)	missense	probably damaging	1.00
R7693:Popdc3	UTSW	10	45,191,227 (GRCm39)	missense	probably benign	0.01
R7864:Popdc3	UTSW	10	45,191,278 (GRCm39)	missense	probably benign	0.13
X0057:Popdc3	UTSW	10	45,191,207 (GRCm39)	missense	probably benign	0.10
Z1177:Popdc3	UTSW	10	45,190,980 (GRCm39)	nonsense	probably null

Posted On

2013-10-07