Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00498:Cfdp1'

9646

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfdp1

Ensembl Gene

ENSMUSG00000031954

Gene Name

craniofacial development protein 1

Synonyms

cp27, Bcnt, Bucentaur

Accession Numbers

Essential gene?

Probably essential (E-score: 0.905) question?

Stock #

IGL00498

Quality Score

Status

Chromosome

Chromosomal Location

112495123-112580923 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112567110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 133 (E133G)

Ref Sequence

ENSEMBL: ENSMUSP00000034432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034432]

AlphaFold

O88271

Predicted Effect

probably benign
Transcript: ENSMUST00000034432
AA Change: E133G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034432
Gene: ENSMUSG00000031954
AA Change: E133G

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
low complexity region	66	99	N/A	INTRINSIC
Pfam:BCNT	217	291	5e-34	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	G	A	2: 68,432,242 (GRCm39)	G128R	unknown	Het
Acsm5	T	C	7: 119,141,661 (GRCm39)		probably null	Het
Atad2	A	C	15: 57,980,216 (GRCm39)	F423V	probably damaging	Het
Carmil3	T	A	14: 55,739,352 (GRCm39)		probably null	Het
Cdc42bpa	A	C	1: 179,933,686 (GRCm39)	E775A	probably damaging	Het
Chst3	A	G	10: 60,021,441 (GRCm39)	F469L	possibly damaging	Het
Dbx1	T	C	7: 49,286,222 (GRCm39)	D81G	probably benign	Het
Dmp1	A	G	5: 104,358,021 (GRCm39)		probably benign	Het
Dnah8	A	G	17: 30,896,150 (GRCm39)	T855A	probably benign	Het
Fbxw2	C	T	2: 34,695,953 (GRCm39)	A250T	probably damaging	Het
Fcgbp	T	C	7: 27,791,222 (GRCm39)	C828R	probably damaging	Het
Gmfg	G	T	7: 28,145,810 (GRCm39)	R83L	possibly damaging	Het
Gpr37l1	A	G	1: 135,089,440 (GRCm39)		probably benign	Het
Hcfc1r1	G	A	17: 23,892,982 (GRCm39)	R9Q	probably damaging	Het
Hsd17b1	A	T	11: 100,970,884 (GRCm39)	H280L	possibly damaging	Het
Hsd17b12	A	C	2: 93,913,510 (GRCm39)		probably null	Het
Itga1	A	G	13: 115,167,729 (GRCm39)	V99A	probably benign	Het
Kcnn1	A	G	8: 71,305,524 (GRCm39)	S229P	probably damaging	Het
Klhdc8a	A	G	1: 132,230,756 (GRCm39)	N207S	probably benign	Het
Lrrtm4	T	C	6: 79,999,529 (GRCm39)	W314R	probably damaging	Het
Malrd1	T	C	2: 16,146,997 (GRCm39)		probably benign	Het
Marcks	T	C	10: 37,014,513 (GRCm39)	K7E	probably damaging	Het
Mov10	A	G	3: 104,708,263 (GRCm39)		probably benign	Het
Pclo	A	T	5: 14,590,753 (GRCm39)	T1018S	unknown	Het
Sdk1	T	C	5: 142,071,361 (GRCm39)	Y1184H	probably damaging	Het
Slc6a18	A	T	13: 73,819,838 (GRCm39)	M244K	possibly damaging	Het
Snx19	C	T	9: 30,340,233 (GRCm39)	T457I	possibly damaging	Het
Stard3	T	A	11: 98,267,356 (GRCm39)	V158D	possibly damaging	Het
Tnks	G	T	8: 35,328,843 (GRCm39)		probably benign	Het
Ugt2b34	A	G	5: 87,049,084 (GRCm39)	S314P	probably damaging	Het
Usp15	G	A	10: 122,949,501 (GRCm39)	S952L	probably benign	Het
Utp11	A	G	4: 124,573,532 (GRCm39)	V214A	possibly damaging	Het

Other mutations in Cfdp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02754:Cfdp1	APN	8	112,580,766 (GRCm39)	splice site	probably benign
R0060:Cfdp1	UTSW	8	112,566,986 (GRCm39)	splice site	probably benign
R1900:Cfdp1	UTSW	8	112,495,361 (GRCm39)	nonsense	probably null
R4273:Cfdp1	UTSW	8	112,495,417 (GRCm39)	missense	probably damaging	1.00
R4661:Cfdp1	UTSW	8	112,557,577 (GRCm39)	missense	probably benign	0.19
R4662:Cfdp1	UTSW	8	112,557,577 (GRCm39)	missense	probably benign	0.19
R4715:Cfdp1	UTSW	8	112,557,523 (GRCm39)	missense	probably benign	0.02
R5265:Cfdp1	UTSW	8	112,557,617 (GRCm39)	missense	probably benign	0.30
R5388:Cfdp1	UTSW	8	112,495,384 (GRCm39)	missense	probably damaging	1.00
R7917:Cfdp1	UTSW	8	112,567,033 (GRCm39)	missense	possibly damaging	0.76
R8212:Cfdp1	UTSW	8	112,571,815 (GRCm39)	missense	probably damaging	0.97
R9621:Cfdp1	UTSW	8	112,571,807 (GRCm39)	missense	probably damaging	0.99
R9760:Cfdp1	UTSW	8	112,495,415 (GRCm39)	missense	probably benign	0.14

Posted On

2012-12-06