Mutagenetix > Incidental Mutation

Incidental Mutation 'R9760:Dcaf1'

732959

Institutional Source

Beutler Lab

Gene Symbol

Dcaf1

Ensembl Gene

ENSMUSG00000040325

Gene Name

DDB1 and CUL4 associated factor 1

Synonyms

B930007L02Rik, Vprbp

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9760 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106821874-106880992 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106874267 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1480 (D1480G)

Ref Sequence

ENSEMBL: ENSMUSP00000125730 (fasta)

Gene Model

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

AlphaFold

Q80TR8

Predicted Effect

unknown
Transcript: ENSMUST00000055009
AA Change: D1474G

SMART Domains

Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: D1474G

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

SMART Domains

Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325

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: ENSMUST00000161272

SMART Domains

Protein: ENSMUSP00000125424
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
Pfam:Armet	1	51	2.5e-21	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000161758
AA Change: D1480G

SMART Domains

Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: D1480G

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.1%
20x: 97.7%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	C	16: 8,581,930		probably null	Het
Adamts4	G	A	1: 171,258,765	D709N	probably benign	Het
Arhgef12	G	T	9: 42,992,022	D745E	probably damaging	Het
BC005561	T	C	5: 104,519,235	V541A	probably benign	Het
Cep250	A	G	2: 155,976,553	K883E	probably benign	Het
Cfdp1	T	C	8: 111,768,783	I268V	probably benign	Het
Cgnl1	G	T	9: 71,645,571	S1037*	probably null	Het
Clca3b	T	C	3: 144,846,849	N142S	probably benign	Het
Col6a6	A	T	9: 105,782,054	I564N	probably damaging	Het
Coq4	G	T	2: 29,788,470	R36L	probably benign	Het
Dact3	G	A	7: 16,886,206	S542N	unknown	Het
Dcdc2a	C	T	13: 25,205,460	T457I	probably damaging	Het
Ddi2	A	G	4: 141,683,885	V572A	probably damaging	Het
Ddx54	C	T	5: 120,623,607	R483C	probably benign	Het
Dennd5b	G	A	6: 149,068,499	S152F	probably benign	Het
Efcab14	C	T	4: 115,758,875	H252Y	probably benign	Het
Efhb	A	T	17: 53,463,270	F4I	probably damaging	Het
Esrrg	A	G	1: 188,043,372	D32G	probably benign	Het
Fam126a	T	C	5: 23,979,574	Q302R	possibly damaging	Het
Fam160b2	A	C	14: 70,590,181	V158G	possibly damaging	Het
Far2	C	A	6: 148,158,950	A267E	probably damaging	Het
Flnb	T	C	14: 7,929,846	I1992T	probably damaging	Het
Fmnl2	A	G	2: 53,054,515	S169G		Het
Galnt10	G	A	11: 57,765,688	V233I	probably benign	Het
Gbf1	C	A	19: 46,255,698	N210K	probably benign	Het
Gbp3	T	G	3: 142,570,522	S460A	probably benign	Het
Gm12185	T	A	11: 48,915,341	H341L	probably benign	Het
Gm14025	A	T	2: 129,038,579	S476T		Het
Gm5592	A	T	7: 41,289,810	I839F	possibly damaging	Het
Gnptab	A	G	10: 88,431,448	D467G	probably damaging	Het
Grin3a	A	T	4: 49,714,213	M844K	probably damaging	Het
Gtf2a1l	A	G	17: 88,711,592	D368G	probably benign	Het
Herc2	G	C	7: 56,163,911		probably null	Het
Ins2	T	A	7: 142,679,448	H29L	probably damaging	Het
Ipo13	T	A	4: 117,905,581	Y275F	probably benign	Het
Kcnj15	T	A	16: 95,295,624	M35K	probably benign	Het
Kif21b	G	A	1: 136,148,683	V321M	probably damaging	Het
Lcmt1	T	A	7: 123,430,152	Y332*	probably null	Het
Malt1	A	G	18: 65,448,212	Q237R	probably benign	Het
Micall1	G	A	15: 79,120,832	C168Y	unknown	Het
Muc5ac	A	G	7: 141,807,248	K1432R	probably benign	Het
Nacad	A	G	11: 6,601,662	S510P	probably benign	Het
Nub1	T	C	5: 24,692,967	L117P	possibly damaging	Het
Olfr119	T	C	17: 37,701,543	L291P	probably damaging	Het
Olfr312	A	G	11: 58,832,026	R291G	probably damaging	Het
Olfr938	A	T	9: 39,077,975	F257I	possibly damaging	Het
Pkdrej	T	C	15: 85,821,067	K223E	probably benign	Het
Prkdc	T	A	16: 15,839,180	Y4046*	probably null	Het
Prpf8	A	G	11: 75,503,431	N1767D	probably benign	Het
Prr27	C	A	5: 87,843,135	P202Q	probably benign	Het
R3hdm2	G	T	10: 127,444,313	M18I	unknown	Het
Rab35	C	A	5: 115,640,165	D63E	probably damaging	Het
Ribc2	T	A	15: 85,143,367	Y350N	probably benign	Het
Sec63	A	G	10: 42,828,948	I733V	probably benign	Het
Slc23a3	ATT	ATTT	1: 75,133,281		probably null	Het
Slc38a4	T	C	15: 96,998,451	K512E	probably damaging	Het
Stk35	G	A	2: 129,800,685	V49I	probably benign	Het
Tango6	A	G	8: 106,850,279	E1055G	probably damaging	Het
Tas2r137	A	G	6: 40,492,102	I289V	probably benign	Het
Tll2	C	T	19: 41,130,645	V215M	probably damaging	Het
Tmem30a	A	T	9: 79,780,592	N98K	probably benign	Het
Trav9n-4	C	A	14: 53,294,833	A48E	probably benign	Het
Vmn1r192	A	G	13: 22,187,840	F70S	probably damaging	Het
Wdr89	A	G	12: 75,633,252	V76A	probably damaging	Het
Zfp229	A	T	17: 21,746,294	T502S	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
R5926:Dcaf1	UTSW	9	106838362	missense	probably benign	0.02
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
X0019:Dcaf1	UTSW	9	106834159	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AATGGACTTCATGCTCTCTCAC -3'
(R):5'- ATGTCTCAGGGCTTTTCCTCAG -3'

Sequencing Primer
(F):5'- TTCATGCTCTCTCACCAGGAAGAG -3'
(R):5'- TTTTCCTCAGGGGCCAGAG -3'

Posted On

2022-11-14