Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00471:Pcbd2'

4303

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcbd2

Ensembl Gene

ENSMUSG00000021496

Gene Name

pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2

Synonyms

Dcoh2, Dcohm, 2700061N24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

IGL00471

Quality Score

Status

Chromosome

Chromosomal Location

55875181-55924643 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 55924413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021958] [ENSMUST00000124968]

AlphaFold

Q9CZL5

Predicted Effect

probably benign
Transcript: ENSMUST00000021958

SMART Domains

Protein: ENSMUSP00000021958
Gene: ENSMUSG00000021496

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
Pfam:Pterin_4a	39	132	1.5e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124968

SMART Domains

Protein: ENSMUSP00000115392
Gene: ENSMUSG00000021496

Domain	Start	End	E-Value	Type
Pfam:Pterin_4a	3	101	5.7e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152292

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154384

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,657,661 (GRCm39)	V2793A	probably damaging	Het
Agbl2	A	G	2: 90,631,389 (GRCm39)	Y249C	probably damaging	Het
Anks1	T	C	17: 28,277,390 (GRCm39)	S1082P	possibly damaging	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
C4b	T	G	17: 34,953,403 (GRCm39)	T1027P	probably damaging	Het
Clec4d	A	T	6: 123,251,732 (GRCm39)	I205F	probably damaging	Het
Cpeb2	A	T	5: 43,443,174 (GRCm39)	Y955F	probably damaging	Het
Cst13	T	A	2: 148,672,224 (GRCm39)	M133K	probably damaging	Het
Dnah10	T	C	5: 124,871,405 (GRCm39)	L2418P	probably damaging	Het
Gli3	T	C	13: 15,898,354 (GRCm39)		probably null	Het
Hgfac	C	A	5: 35,203,870 (GRCm39)	H463N	probably damaging	Het
Hlx	A	T	1: 184,463,792 (GRCm39)	F183I	probably damaging	Het
Ighv1-5	T	G	12: 114,477,093 (GRCm39)	I70L	probably benign	Het
Ltbp2	T	C	12: 84,837,838 (GRCm39)	T1181A	probably damaging	Het
Morn1	A	C	4: 155,176,785 (GRCm39)	K140Q	possibly damaging	Het
Nek1	A	T	8: 61,496,318 (GRCm39)	M358L	probably benign	Het
Pramel7	A	T	2: 87,321,429 (GRCm39)	L202Q	probably damaging	Het
Shq1	A	G	6: 100,641,444 (GRCm39)	S146P	probably benign	Het
Slc25a21	T	C	12: 56,764,922 (GRCm39)		probably null	Het
Slc26a7	A	T	4: 14,548,403 (GRCm39)		probably benign	Het
Sspo	G	A	6: 48,475,147 (GRCm39)		probably benign	Het
Stam2	T	C	2: 52,610,947 (GRCm39)	D25G	probably damaging	Het
Tbx18	A	T	9: 87,587,676 (GRCm39)	D480E	possibly damaging	Het
Tmem26	A	T	10: 68,614,511 (GRCm39)	I309F	possibly damaging	Het
Ube2c	A	G	2: 164,613,213 (GRCm39)	T44A	probably benign	Het

Other mutations in Pcbd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02411:Pcbd2	APN	13	55,880,764 (GRCm39)	missense	probably benign
R1203:Pcbd2	UTSW	13	55,880,881 (GRCm39)	critical splice donor site	probably null
R2105:Pcbd2	UTSW	13	55,880,846 (GRCm39)	missense	probably damaging	1.00
R9594:Pcbd2	UTSW	13	55,880,849 (GRCm39)	missense	probably benign	0.08

Posted On

2012-04-20