Mutagenetix > Incidental Mutation

Incidental Mutation 'R5265:Cfdp1'

401661

Institutional Source

Beutler Lab

Gene Symbol

Cfdp1

Ensembl Gene

ENSMUSG00000031954

Gene Name

craniofacial development protein 1

Synonyms

cp27, Bucentaur, Bcnt

MMRRC Submission

042833-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.882) question?

Stock #

R5265 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111768491-111854291 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111830985 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 175 (T175A)

Ref Sequence

ENSEMBL: ENSMUSP00000034432 (fasta)

Gene Model

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

AlphaFold

O88271

Predicted Effect

probably benign
Transcript: ENSMUST00000034432
AA Change: T175A

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034432
Gene: ENSMUSG00000031954
AA Change: T175A

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

Meta Mutation Damage Score

0.0590

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,258,894 (GRCm38)	W66R	probably damaging	Het
Adamts3	A	G	5: 89,861,552 (GRCm38)	V84A	possibly damaging	Het
Caap1	C	A	4: 94,501,228 (GRCm38)	E290*	probably null	Het
Cant1	G	A	11: 118,408,050 (GRCm38)	R296C	probably damaging	Het
Ccdc114	T	A	7: 45,947,435 (GRCm38)	D395E	probably damaging	Het
Cdh5	A	T	8: 104,142,739 (GRCm38)	H699L	probably benign	Het
Col4a4	C	T	1: 82,493,591 (GRCm38)	G681E	unknown	Het
Comtd1	G	A	14: 21,848,793 (GRCm38)	T27I	probably benign	Het
Copg1	T	A	6: 87,892,270 (GRCm38)	V155D	probably damaging	Het
Dag1	A	G	9: 108,207,699 (GRCm38)	Y748H	possibly damaging	Het
Dmwd	T	A	7: 19,080,281 (GRCm38)	N285K	possibly damaging	Het
Dsp	A	G	13: 38,195,183 (GRCm38)	E1968G	possibly damaging	Het
Ednra	A	G	8: 77,667,375 (GRCm38)	I364T	probably damaging	Het
Elovl3	C	A	19: 46,134,681 (GRCm38)	T232K	probably damaging	Het
Ercc3	T	A	18: 32,254,243 (GRCm38)	I503N	probably damaging	Het
Ercc6	C	A	14: 32,569,623 (GRCm38)	A1008D	probably benign	Het
Gm10563	TTTC	TTTCATTC	4: 155,614,496 (GRCm38)		probably null	Het
H2-DMb2	G	T	17: 34,148,562 (GRCm38)	V117F	probably damaging	Het
Helt	A	T	8: 46,292,433 (GRCm38)	W138R	probably damaging	Het
Itga11	A	T	9: 62,737,412 (GRCm38)	H215L	probably benign	Het
Kcnn1	T	A	8: 70,854,653 (GRCm38)	I156F	probably benign	Het
Kdm1b	A	G	13: 47,062,969 (GRCm38)	N272D	probably benign	Het
Kdm2b	T	C	5: 122,878,588 (GRCm38)	T1161A	probably damaging	Het
Lin54	A	G	5: 100,485,519 (GRCm38)	L102P	probably damaging	Het
Mlh1	A	C	9: 111,271,523 (GRCm38)	M1R	probably null	Het
Naip2	G	A	13: 100,152,560 (GRCm38)	L1165F	probably damaging	Het
Nfkbiz	A	G	16: 55,819,641 (GRCm38)	S118P	probably damaging	Het
Nkx3-2	T	A	5: 41,761,848 (GRCm38)	M266L	probably benign	Het
Npr1	T	C	3: 90,457,002 (GRCm38)	E771G	probably benign	Het
Obox8	C	T	7: 14,332,029 (GRCm38)	R188H	probably benign	Het
Olfr187	A	T	16: 59,036,143 (GRCm38)	V198D	possibly damaging	Het
Olfr497	T	A	7: 108,423,402 (GRCm38)	V277E	possibly damaging	Het
Palm3	T	C	8: 84,021,530 (GRCm38)		probably null	Het
Palmd	A	T	3: 116,923,849 (GRCm38)	V333D	possibly damaging	Het
Pikfyve	A	G	1: 65,267,829 (GRCm38)	E1747G	possibly damaging	Het
Polr3a	T	C	14: 24,454,941 (GRCm38)	I1084V	possibly damaging	Het
Ranbp3l	T	A	15: 9,007,203 (GRCm38)	F127I	probably benign	Het
Rsl1d1	A	G	16: 11,201,384 (GRCm38)	F97L	possibly damaging	Het
Scaper	A	G	9: 55,864,546 (GRCm38)	V362A	probably benign	Het
Scg5	A	T	2: 113,776,865 (GRCm38)	L192*	probably null	Het
Slc34a2	T	C	5: 53,061,434 (GRCm38)	I198T	probably damaging	Het
Slc45a3	T	A	1: 131,978,194 (GRCm38)	D318E	possibly damaging	Het
Sorl1	A	G	9: 42,106,516 (GRCm38)	M105T	possibly damaging	Het
St3gal5	T	A	6: 72,149,131 (GRCm38)	I320N	probably damaging	Het
Stx17	A	G	4: 48,183,470 (GRCm38)		probably benign	Het
Syt5	C	T	7: 4,541,075 (GRCm38)		probably null	Het
Thrap3	A	G	4: 126,167,640 (GRCm38)	S774P	probably damaging	Het
Tnc	A	T	4: 63,993,206 (GRCm38)	M1376K	probably benign	Het
Tnks1bp1	T	A	2: 85,062,754 (GRCm38)	D1008E	probably benign	Het
Trav7-1	G	T	14: 52,655,304 (GRCm38)	A105S	probably damaging	Het
Vmn1r28	T	A	6: 58,265,964 (GRCm38)	V264D	probably damaging	Het
Vmn1r44	T	C	6: 89,893,839 (GRCm38)	V46A	probably benign	Het
Vmn2r10	A	G	5: 108,995,720 (GRCm38)	I788T	probably damaging	Het
Vmn2r78	T	A	7: 86,920,124 (GRCm38)	I75N	probably damaging	Het
Zfp821	T	C	8: 109,724,359 (GRCm38)	M328T	probably damaging	Het
Zfp995	G	A	17: 21,880,623 (GRCm38)	P210L	possibly damaging	Het

Other mutations in Cfdp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Cfdp1	APN	8	111,840,478 (GRCm38)	missense	probably benign	0.00
IGL02754:Cfdp1	APN	8	111,854,134 (GRCm38)	splice site	probably benign
R0060:Cfdp1	UTSW	8	111,840,354 (GRCm38)	splice site	probably benign
R1900:Cfdp1	UTSW	8	111,768,729 (GRCm38)	nonsense	probably null
R4273:Cfdp1	UTSW	8	111,768,785 (GRCm38)	missense	probably damaging	1.00
R4661:Cfdp1	UTSW	8	111,830,945 (GRCm38)	missense	probably benign	0.19
R4662:Cfdp1	UTSW	8	111,830,945 (GRCm38)	missense	probably benign	0.19
R4715:Cfdp1	UTSW	8	111,830,891 (GRCm38)	missense	probably benign	0.02
R5388:Cfdp1	UTSW	8	111,768,752 (GRCm38)	missense	probably damaging	1.00
R7917:Cfdp1	UTSW	8	111,840,401 (GRCm38)	missense	possibly damaging	0.76
R8212:Cfdp1	UTSW	8	111,845,183 (GRCm38)	missense	probably damaging	0.97
R9621:Cfdp1	UTSW	8	111,845,175 (GRCm38)	missense	probably damaging	0.99
R9760:Cfdp1	UTSW	8	111,768,783 (GRCm38)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- AGTCCTCGCACAGCTAACAG -3'
(R):5'- ATGTACATTGGAATTGCTGGCATG -3'

Sequencing Primer
(F):5'- ACAGCTAACAGTTTTCCCAGTGTG -3'
(R):5'- GTGGATCCTTTAGAGCTGCAGTTAC -3'

Posted On

2016-07-06