Mutagenetix > Incidental Mutation

Incidental Mutation 'R1373:Dcaf1'

157409

Institutional Source

Beutler Lab

Gene Symbol

Dcaf1

Ensembl Gene

ENSMUSG00000040325

Gene Name

DDB1 and CUL4 associated factor 1

Synonyms

B930007L02Rik, Vprbp

MMRRC Submission

039437-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1373 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106699073-106758191 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106735079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 676 (I676V)

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: I676V

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: I676V

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: I676V

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: I676V

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: I676V

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: I676V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188343

Meta Mutation Damage Score

0.0868

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 97.0%
20x: 95.2%

Validation Efficiency

94% (34/36)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	G	A	14: 68,808,400 (GRCm39)	R317C	probably damaging	Het
Adgrl1	T	C	8: 84,664,392 (GRCm39)	V1261A	probably benign	Het
Btla	G	A	16: 45,044,783 (GRCm39)	G23D	probably benign	Het
Card19	T	C	13: 49,357,440 (GRCm39)	D110G	probably damaging	Het
Cbx7	C	T	15: 79,803,074 (GRCm39)	G160R	probably damaging	Het
Ccng2	C	T	5: 93,418,914 (GRCm39)		probably benign	Het
Col4a3	G	A	1: 82,667,808 (GRCm39)		probably benign	Het
Colgalt2	A	G	1: 152,348,912 (GRCm39)	T186A	probably damaging	Het
Cps1	A	G	1: 67,268,583 (GRCm39)	N1437S	possibly damaging	Het
Dnah5	T	A	15: 28,314,064 (GRCm39)		probably benign	Het
Dock1	T	C	7: 134,768,904 (GRCm39)	S1758P	probably benign	Het
Furin	C	T	7: 80,041,932 (GRCm39)		probably benign	Het
Ice2	G	A	9: 69,314,401 (GRCm39)	R50H	probably benign	Het
Ifi207	T	A	1: 173,557,913 (GRCm39)	D275V	unknown	Het
Nrxn2	C	T	19: 6,522,331 (GRCm39)	T190M	probably damaging	Het
Odad4	T	C	11: 100,436,658 (GRCm39)	F11S	probably damaging	Het
Or14j8	T	C	17: 38,263,251 (GRCm39)	I221M	probably damaging	Het
Or2ag17	C	T	7: 106,389,963 (GRCm39)	V82I	probably benign	Het
Pcnx3	A	G	19: 5,715,544 (GRCm39)	L1494P	probably damaging	Het
Pitrm1	G	T	13: 6,620,736 (GRCm39)	M739I	probably benign	Het
Rbm15	G	T	3: 107,239,946 (GRCm39)	R151S	possibly damaging	Het
Sfr1	C	G	19: 47,723,355 (GRCm39)	D286E	possibly damaging	Het
Slx4	A	G	16: 3,803,374 (GRCm39)	S1147P	probably benign	Het
Sry	C	G	Y: 2,662,864 (GRCm39)	Q265H	unknown	Het
Tgfbr3	T	C	5: 107,362,809 (GRCm39)	I68V	probably benign	Het
Tpmt	A	C	13: 47,180,734 (GRCm39)		probably null	Het
Trpm5	A	G	7: 142,640,579 (GRCm39)		probably benign	Het
Txlnb	A	G	10: 17,714,695 (GRCm39)	T376A	probably damaging	Het
Usp25	T	C	16: 76,859,273 (GRCm39)		probably benign	Het
Vmn1r11	G	A	6: 57,114,963 (GRCm39)	C209Y	probably benign	Het
Vps13c	A	T	9: 67,834,793 (GRCm39)	K1707N	probably damaging	Het

Other mutations in Dcaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Dcaf1	APN	9	106,735,532 (GRCm39)	missense	probably benign	0.45
IGL01314:Dcaf1	APN	9	106,711,390 (GRCm39)	missense	probably benign	0.07
IGL01395:Dcaf1	APN	9	106,735,361 (GRCm39)	missense	possibly damaging	0.73
IGL01936:Dcaf1	APN	9	106,736,800 (GRCm39)	missense	possibly damaging	0.81
IGL02089:Dcaf1	APN	9	106,740,310 (GRCm39)	missense	probably benign	0.40
IGL02596:Dcaf1	APN	9	106,740,220 (GRCm39)	missense	probably damaging	1.00
IGL02828:Dcaf1	APN	9	106,721,501 (GRCm39)	splice site	probably benign
IGL03036:Dcaf1	APN	9	106,721,339 (GRCm39)	missense	probably damaging	1.00
IGL03327:Dcaf1	APN	9	106,735,823 (GRCm39)	missense	possibly damaging	0.79
Americano	UTSW	9	106,757,158 (GRCm39)	nonsense	probably null
Latte	UTSW	9	106,723,971 (GRCm39)	nonsense	probably null
IGL02799:Dcaf1	UTSW	9	106,735,139 (GRCm39)	missense	probably benign	0.42
P0023:Dcaf1	UTSW	9	106,737,650 (GRCm39)	missense	probably benign	0.40
R0087:Dcaf1	UTSW	9	106,740,288 (GRCm39)	missense	probably damaging	1.00
R0164:Dcaf1	UTSW	9	106,721,344 (GRCm39)	missense	possibly damaging	0.94
R0164:Dcaf1	UTSW	9	106,721,344 (GRCm39)	missense	possibly damaging	0.94
R0562:Dcaf1	UTSW	9	106,721,321 (GRCm39)	splice site	probably benign
R0690:Dcaf1	UTSW	9	106,723,848 (GRCm39)	splice site	probably benign
R1508:Dcaf1	UTSW	9	106,731,376 (GRCm39)	missense	probably damaging	1.00
R1765:Dcaf1	UTSW	9	106,741,793 (GRCm39)	missense	probably damaging	1.00
R1845:Dcaf1	UTSW	9	106,729,161 (GRCm39)	missense	probably benign	0.01
R2016:Dcaf1	UTSW	9	106,716,287 (GRCm39)	missense	probably benign	0.41
R2017:Dcaf1	UTSW	9	106,725,122 (GRCm39)	missense	probably damaging	0.99
R2017:Dcaf1	UTSW	9	106,716,287 (GRCm39)	missense	probably benign	0.41
R2246:Dcaf1	UTSW	9	106,731,376 (GRCm39)	missense	possibly damaging	0.94
R2321:Dcaf1	UTSW	9	106,715,672 (GRCm39)	missense	probably benign	0.04
R4528:Dcaf1	UTSW	9	106,721,403 (GRCm39)	missense	probably damaging	1.00
R4646:Dcaf1	UTSW	9	106,724,006 (GRCm39)	missense	probably benign	0.27
R4648:Dcaf1	UTSW	9	106,742,876 (GRCm39)	unclassified	probably benign
R4742:Dcaf1	UTSW	9	106,735,754 (GRCm39)	missense	probably benign	0.00
R5876:Dcaf1	UTSW	9	106,740,849 (GRCm39)	missense	probably damaging	1.00
R5926:Dcaf1	UTSW	9	106,715,561 (GRCm39)	missense	probably benign	0.02
R6057:Dcaf1	UTSW	9	106,731,446 (GRCm39)	missense	probably damaging	0.99
R6335:Dcaf1	UTSW	9	106,715,845 (GRCm39)	missense	possibly damaging	0.63
R6518:Dcaf1	UTSW	9	106,712,788 (GRCm39)	missense	probably damaging	1.00
R6812:Dcaf1	UTSW	9	106,735,268 (GRCm39)	missense	probably damaging	1.00
R6829:Dcaf1	UTSW	9	106,715,803 (GRCm39)	missense	probably damaging	0.97
R6972:Dcaf1	UTSW	9	106,723,971 (GRCm39)	nonsense	probably null
R7175:Dcaf1	UTSW	9	106,735,775 (GRCm39)	missense	probably benign	0.32
R7650:Dcaf1	UTSW	9	106,715,543 (GRCm39)	missense	probably benign	0.01
R7734:Dcaf1	UTSW	9	106,715,878 (GRCm39)	missense	probably damaging	1.00
R8179:Dcaf1	UTSW	9	106,735,115 (GRCm39)	missense	probably damaging	1.00
R8230:Dcaf1	UTSW	9	106,735,914 (GRCm39)	missense	probably damaging	0.99
R8247:Dcaf1	UTSW	9	106,731,427 (GRCm39)	missense	possibly damaging	0.51
R8440:Dcaf1	UTSW	9	106,725,073 (GRCm39)	missense	possibly damaging	0.94
R8543:Dcaf1	UTSW	9	106,735,277 (GRCm39)	missense	probably benign	0.06
R8674:Dcaf1	UTSW	9	106,740,896 (GRCm39)	missense	probably damaging	1.00
R8728:Dcaf1	UTSW	9	106,724,005 (GRCm39)	missense	possibly damaging	0.92
R8807:Dcaf1	UTSW	9	106,742,268 (GRCm39)	missense	probably benign	0.05
R8883:Dcaf1	UTSW	9	106,724,839 (GRCm39)	intron	probably benign
R8953:Dcaf1	UTSW	9	106,735,542 (GRCm39)	missense	possibly damaging	0.66
R9018:Dcaf1	UTSW	9	106,742,836 (GRCm39)	missense	probably damaging	1.00
R9113:Dcaf1	UTSW	9	106,712,831 (GRCm39)	splice site	probably benign
R9300:Dcaf1	UTSW	9	106,725,042 (GRCm39)	missense	possibly damaging	0.92
R9414:Dcaf1	UTSW	9	106,757,158 (GRCm39)	nonsense	probably null
R9428:Dcaf1	UTSW	9	106,735,528 (GRCm39)	missense	possibly damaging	0.52
R9486:Dcaf1	UTSW	9	106,735,916 (GRCm39)	missense	possibly damaging	0.88
R9685:Dcaf1	UTSW	9	106,713,818 (GRCm39)	missense	probably benign	0.01
R9700:Dcaf1	UTSW	9	106,735,524 (GRCm39)	missense	probably benign	0.01
R9760:Dcaf1	UTSW	9	106,751,466 (GRCm39)	missense	unknown
X0019:Dcaf1	UTSW	9	106,711,358 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGAAACCAATAAAATAGAACACAAAGGTCACC -3'
(R):5'- TGATGGACAACAGGGACAGAAGCAC -3'

Sequencing Primer
(F):5'- atgtgtggaggaaaagaggg -3'
(R):5'- AAGCACCTTGATGCCATTGTTG -3'

Posted On

2014-02-18