Mutagenetix > Incidental Mutation

Incidental Mutation 'R7917:Cfdp1'

648146

Institutional Source

Beutler Lab

Gene Symbol

Cfdp1

Ensembl Gene

ENSMUSG00000031954

Gene Name

craniofacial development protein 1

Synonyms

cp27, Bcnt, Bucentaur

MMRRC Submission

045965-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R7917 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112495123-112580923 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 112567033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 159 (V159L)

Ref Sequence

ENSEMBL: ENSMUSP00000034432 (fasta)

Gene Model

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

AlphaFold

O88271

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034432
AA Change: V159L

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034432
Gene: ENSMUSG00000031954
AA Change: V159L

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

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	T	11: 109,958,933 (GRCm39)	H730Q	probably damaging	Het
Adam20	A	G	8: 41,249,408 (GRCm39)	D506G	probably damaging	Het
Brinp1	A	G	4: 68,823,190 (GRCm39)	M1T	probably null	Het
Ccnc	T	A	4: 21,748,158 (GRCm39)	N273K	possibly damaging	Het
Cyb5r1	T	A	1: 134,334,638 (GRCm39)		probably benign	Het
Dsp	C	T	13: 38,351,615 (GRCm39)	Q145*	probably null	Het
Exosc9	G	A	3: 36,607,968 (GRCm39)	V59I	probably damaging	Het
Fermt2	C	G	14: 45,699,318 (GRCm39)	R592T	probably damaging	Het
Fryl	A	G	5: 73,211,875 (GRCm39)	S2381P	probably damaging	Het
Fscn2	G	A	11: 120,258,082 (GRCm39)	E335K	possibly damaging	Het
Hapln1	T	C	13: 89,755,997 (GRCm39)	I267T	probably benign	Het
Hdac9	T	A	12: 34,483,209 (GRCm39)	I93L	probably benign	Het
Igfn1	T	C	1: 135,899,706 (GRCm39)	D535G	probably damaging	Het
Ighv1-4	A	T	12: 114,451,165 (GRCm39)	F9I	possibly damaging	Het
Il3ra	T	A	14: 14,350,773 (GRCm38)	H262Q	possibly damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Mtg1	A	T	7: 139,727,178 (GRCm39)	D227V	probably damaging	Het
Nrcam	T	G	12: 44,620,546 (GRCm39)		probably null	Het
Or13g1	T	C	7: 85,955,686 (GRCm39)	T212A	probably damaging	Het
Or4f57	A	C	2: 111,791,310 (GRCm39)	V36G	probably damaging	Het
Or8b1	T	A	9: 38,399,905 (GRCm39)	Y193*	probably null	Het
Pcdha1	T	A	18: 37,065,254 (GRCm39)	D639E	possibly damaging	Het
Pcdhga8	T	A	18: 37,860,669 (GRCm39)	V575E	possibly damaging	Het
Pcif1	G	T	2: 164,730,392 (GRCm39)	R375L	probably benign	Het
Pcna	A	T	2: 132,094,929 (GRCm39)	S10T	probably benign	Het
Pdzd8	A	G	19: 59,333,518 (GRCm39)	S168P	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Polq	T	A	16: 36,885,650 (GRCm39)	D1842E	probably benign	Het
Rag2	A	T	2: 101,460,040 (GRCm39)	N117Y	probably damaging	Het
Scnn1g	T	C	7: 121,342,916 (GRCm39)	Y290H	probably damaging	Het
Sri	T	C	5: 8,113,409 (GRCm39)		probably null	Het
Tek	T	C	4: 94,708,372 (GRCm39)	V361A	possibly damaging	Het
Terf1	T	A	1: 15,889,300 (GRCm39)	L243Q	probably damaging	Het
Thrap3	G	A	4: 126,069,213 (GRCm39)	T646I	probably damaging	Het
Uba1y	A	G	Y: 821,274 (GRCm39)	I86V	probably benign	Het
Vmn2r29	A	G	7: 7,234,727 (GRCm39)	S720P	probably damaging	Het
Zeb2	T	C	2: 44,886,421 (GRCm39)	N879D	possibly damaging	Het
Zfp266	T	C	9: 20,416,423 (GRCm39)	T56A	probably benign	Het
Zxdc	T	A	6: 90,358,991 (GRCm39)	I541N	probably damaging	Het

Other mutations in Cfdp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Cfdp1	APN	8	112,567,110 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- CACAAAGCATGGCAATGAGC -3'
(R):5'- TGAAAGTGATCTCTGGCTGTC -3'

Sequencing Primer
(F):5'- TGAGCAACGGAAACACAAACTTC -3'
(R):5'- TAGGGTTTCACTCACGCTCAGAG -3'

Posted On

2020-09-15