Mutagenetix > Incidental Mutation

Incidental Mutation 'R5926:Dcaf1'

459903

Institutional Source

Beutler Lab

Gene Symbol

Dcaf1

Ensembl Gene

ENSMUSG00000040325

Gene Name

DDB1 and CUL4 associated factor 1

Synonyms

B930007L02Rik, Vprbp

MMRRC Submission

044121-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5926 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106821874-106880992 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106838362 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 226 (V226A)

Ref Sequence

ENSEMBL: ENSMUSP00000125730 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055009] [ENSMUST00000159645] [ENSMUST00000161758]

AlphaFold

Q80TR8

Predicted Effect

probably benign
Transcript: ENSMUST00000055009
AA Change: V226A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: V226A

Domain	Start	End	E-Value	Type
low complexity region	175	191	N/A	INTRINSIC
low complexity region	201	212	N/A	INTRINSIC
low complexity region	591	605	N/A	INTRINSIC
LisH	845	877	1.77e-3	SMART
low complexity region	920	945	N/A	INTRINSIC
PDB:4PXW\|B	1038	1392	N/A	PDB
SCOP:d1tbga_	1063	1375	9e-20	SMART
Blast:WD40	1078	1120	3e-22	BLAST
Blast:WD40	1123	1164	7e-19	BLAST
low complexity region	1393	1452	N/A	INTRINSIC
low complexity region	1457	1483	N/A	INTRINSIC
PDB:4P7I\|D	1484	1506	2e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000159620

SMART Domains

Protein: ENSMUSP00000123907
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
Pfam:Armet	18	120	1.7e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159645
AA Change: V226A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: V226A

Domain	Start	End	E-Value	Type
low complexity region	175	191	N/A	INTRINSIC
low complexity region	201	212	N/A	INTRINSIC
low complexity region	591	605	N/A	INTRINSIC
LisH	845	877	1.77e-3	SMART
low complexity region	920	945	N/A	INTRINSIC
PDB:4PXW\|B	1038	1394	N/A	PDB
SCOP:d1tbga_	1063	1375	1e-19	SMART
Blast:WD40	1078	1120	2e-22	BLAST
Blast:WD40	1123	1164	7e-19	BLAST
low complexity region	1395	1402	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161758
AA Change: V226A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: V226A

Domain	Start	End	E-Value	Type
low complexity region	175	191	N/A	INTRINSIC
low complexity region	201	212	N/A	INTRINSIC
low complexity region	591	605	N/A	INTRINSIC
LisH	845	877	1.77e-3	SMART
low complexity region	920	945	N/A	INTRINSIC
PDB:4PXW\|B	1038	1398	N/A	PDB
SCOP:d1tbga_	1063	1308	3e-19	SMART
Blast:WD40	1078	1120	3e-22	BLAST
Blast:WD40	1123	1164	7e-19	BLAST
low complexity region	1399	1458	N/A	INTRINSIC
low complexity region	1463	1489	N/A	INTRINSIC
PDB:4P7I\|D	1490	1512	2e-6	PDB

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Embryos homozygous for a knock-out allele die prior to E7.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,560,645	Y701F	probably benign	Het
Abra	T	A	15: 41,866,254	H250L	probably damaging	Het
Acer2	T	C	4: 86,874,568	V27A	probably benign	Het
Arhgef15	A	G	11: 68,951,955	L343S	possibly damaging	Het
Arnt2	G	T	7: 84,343,946	H129N	probably damaging	Het
Atp9a	T	A	2: 168,706,271	Y63F	probably damaging	Het
Brca2	A	G	5: 150,534,622	T213A	probably benign	Het
Cdk5r1	T	C	11: 80,478,302		probably null	Het
Cyb5r4	C	T	9: 87,057,261	L366F	probably benign	Het
Cyp20a1	T	A	1: 60,363,242	I162K	possibly damaging	Het
Ddx41	A	T	13: 55,534,299	M232K	probably damaging	Het
Dnm1	C	T	2: 32,315,804	V99I	probably benign	Het
Doc2a	T	C	7: 126,849,525	V134A	probably damaging	Het
Ghdc	C	T	11: 100,768,237	V380M	possibly damaging	Het
Gldn	A	G	9: 54,338,438	I424M	possibly damaging	Het
Haus6	A	T	4: 86,599,316	H270Q	probably benign	Het
Hfe	A	T	13: 23,708,264	M39K	probably damaging	Het
Jakmip1	C	T	5: 37,085,280		probably benign	Het
Kcnb2	A	G	1: 15,313,011	N187S	probably benign	Het
Kcnd2	A	G	6: 21,217,085	S263G	probably damaging	Het
Kcnh1	A	G	1: 192,413,077	N481S	probably benign	Het
Kcnn2	A	G	18: 45,685,284	I343V	probably benign	Het
L3hypdh	T	A	12: 72,077,185	S300C	probably damaging	Het
Lrit1	T	A	14: 37,055,009	C29S	probably damaging	Het
Mark3	T	A	12: 111,592,734	V70E	probably damaging	Het
Med16	C	T	10: 79,902,528	V319M	probably damaging	Het
Mindy3	T	C	2: 12,348,100	Y430C	probably damaging	Het
Mup5	A	T	4: 61,833,049	F121I	probably benign	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Notch1	A	G	2: 26,476,104	Y813H	probably benign	Het
Olfr1415	A	T	1: 92,491,566	L63Q	probably damaging	Het
Olfr473	T	C	7: 107,933,903	S128P	probably damaging	Het
Olfr512	T	C	7: 108,713,587	L66S	probably damaging	Het
Pi4kb	A	G	3: 94,998,996	Y301C	probably damaging	Het
Ptch1	A	G	13: 63,545,055	S244P	probably benign	Het
Ptprn	G	A	1: 75,254,598	T554I	probably damaging	Het
Ptprt	T	C	2: 161,564,686	I969V	probably benign	Het
Raf1	T	C	6: 115,619,898	M519V	probably benign	Het
Ryr1	A	G	7: 29,104,360	V622A	probably damaging	Het
Spaca4	G	T	7: 45,725,295	H94Q	probably benign	Het
Spata31	A	G	13: 64,920,725	D229G	possibly damaging	Het
Tbx6	G	A	7: 126,784,853	A359T	possibly damaging	Het
Trpm8	T	A	1: 88,330,747	Y251N	probably damaging	Het
Vps16	T	A	2: 130,443,556	N806K	probably damaging	Het
Vwf	T	C	6: 125,604,174	F592L	probably damaging	Het

Other mutations in Dcaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Dcaf1	APN	9	106858333	missense	probably benign	0.45
IGL01314:Dcaf1	APN	9	106834191	missense	probably benign	0.07
IGL01395:Dcaf1	APN	9	106858162	missense	possibly damaging	0.73
IGL01936:Dcaf1	APN	9	106859601	missense	possibly damaging	0.81
IGL02089:Dcaf1	APN	9	106863111	missense	probably benign	0.40
IGL02596:Dcaf1	APN	9	106863021	missense	probably damaging	1.00
IGL02828:Dcaf1	APN	9	106844302	splice site	probably benign
IGL03036:Dcaf1	APN	9	106844140	missense	probably damaging	1.00
IGL03327:Dcaf1	APN	9	106858624	missense	possibly damaging	0.79
Americano	UTSW	9	106879959	nonsense	probably null
Latte	UTSW	9	106846772	nonsense	probably null
IGL02799:Dcaf1	UTSW	9	106857940	missense	probably benign	0.42
P0023:Dcaf1	UTSW	9	106860451	missense	probably benign	0.40
R0087:Dcaf1	UTSW	9	106863089	missense	probably damaging	1.00
R0164:Dcaf1	UTSW	9	106844145	missense	possibly damaging	0.94
R0164:Dcaf1	UTSW	9	106844145	missense	possibly damaging	0.94
R0562:Dcaf1	UTSW	9	106844122	splice site	probably benign
R0690:Dcaf1	UTSW	9	106846649	splice site	probably benign
R1373:Dcaf1	UTSW	9	106857880	missense	probably benign	0.18
R1508:Dcaf1	UTSW	9	106854177	missense	probably damaging	1.00
R1765:Dcaf1	UTSW	9	106864594	missense	probably damaging	1.00
R1845:Dcaf1	UTSW	9	106851962	missense	probably benign	0.01
R2016:Dcaf1	UTSW	9	106839088	missense	probably benign	0.41
R2017:Dcaf1	UTSW	9	106839088	missense	probably benign	0.41
R2017:Dcaf1	UTSW	9	106847923	missense	probably damaging	0.99
R2246:Dcaf1	UTSW	9	106854177	missense	possibly damaging	0.94
R2321:Dcaf1	UTSW	9	106838473	missense	probably benign	0.04
R4528:Dcaf1	UTSW	9	106844204	missense	probably damaging	1.00
R4646:Dcaf1	UTSW	9	106846807	missense	probably benign	0.27
R4648:Dcaf1	UTSW	9	106865677	unclassified	probably benign
R4742:Dcaf1	UTSW	9	106858555	missense	probably benign	0.00
R5876:Dcaf1	UTSW	9	106863650	missense	probably damaging	1.00
R6057:Dcaf1	UTSW	9	106854247	missense	probably damaging	0.99
R6335:Dcaf1	UTSW	9	106838646	missense	possibly damaging	0.63
R6518:Dcaf1	UTSW	9	106835589	missense	probably damaging	1.00
R6812:Dcaf1	UTSW	9	106858069	missense	probably damaging	1.00
R6829:Dcaf1	UTSW	9	106838604	missense	probably damaging	0.97
R6972:Dcaf1	UTSW	9	106846772	nonsense	probably null
R7175:Dcaf1	UTSW	9	106858576	missense	probably benign	0.32
R7650:Dcaf1	UTSW	9	106838344	missense	probably benign	0.01
R7734:Dcaf1	UTSW	9	106838679	missense	probably damaging	1.00
R8179:Dcaf1	UTSW	9	106857916	missense	probably damaging	1.00
R8230:Dcaf1	UTSW	9	106858715	missense	probably damaging	0.99
R8247:Dcaf1	UTSW	9	106854228	missense	possibly damaging	0.51
R8440:Dcaf1	UTSW	9	106847874	missense	possibly damaging	0.94
R8543:Dcaf1	UTSW	9	106858078	missense	probably benign	0.06
R8674:Dcaf1	UTSW	9	106863697	missense	probably damaging	1.00
R8728:Dcaf1	UTSW	9	106846806	missense	possibly damaging	0.92
R8807:Dcaf1	UTSW	9	106865069	missense	probably benign	0.05
R8883:Dcaf1	UTSW	9	106847640	intron	probably benign
R8953:Dcaf1	UTSW	9	106858343	missense	possibly damaging	0.66
R9018:Dcaf1	UTSW	9	106865637	missense	probably damaging	1.00
R9113:Dcaf1	UTSW	9	106835632	splice site	probably benign
R9300:Dcaf1	UTSW	9	106847843	missense	possibly damaging	0.92
R9414:Dcaf1	UTSW	9	106879959	nonsense	probably null
R9428:Dcaf1	UTSW	9	106858329	missense	possibly damaging	0.52
R9486:Dcaf1	UTSW	9	106858717	missense	possibly damaging	0.88
R9685:Dcaf1	UTSW	9	106836619	missense	probably benign	0.01
R9700:Dcaf1	UTSW	9	106858325	missense	probably benign	0.01
R9760:Dcaf1	UTSW	9	106874267	missense	unknown
X0019:Dcaf1	UTSW	9	106834159	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCTCAAATAATTGTTGCTAGGTGGC -3'
(R):5'- CCAGCTGCTATTAGACAGCTC -3'

Sequencing Primer
(F):5'- CAATAGTGCTTAGAAGACTGAGGG -3'
(R):5'- AACACACGATCTGGGTCAG -3'

Posted On

2017-02-28