Mutagenetix > Incidental Mutation

Incidental Mutation 'R8543:Dcaf1'

659477

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 #

R8543 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106821874-106880992 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 106858078 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 742 (S742A)

Ref Sequence

ENSEMBL: ENSMUSP00000060025 (fasta)

Gene Model

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

AlphaFold

Q80TR8

Predicted Effect

probably benign
Transcript: ENSMUST00000055009
AA Change: S742A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: S742A

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: S742A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: S742A

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: S742A

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: S742A

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

Meta Mutation Damage Score

0.0692

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (47/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	T	A	17: 43,313,206	L839Q	probably null	Het
Ampd1	T	A	3: 103,079,170	F55Y	possibly damaging	Het
Ank3	A	G	10: 70,002,436	E891G	probably damaging	Het
Ankrd13c	A	G	3: 158,004,075		probably null	Het
Ankrd63	A	G	2: 118,703,123		probably benign	Het
Arhgap30	T	C	1: 171,404,962	S392P	probably damaging	Het
Arhgef11	A	T	3: 87,681,874	K16M	probably damaging	Het
Birc6	T	C	17: 74,565,865	V373A	probably damaging	Het
Blm	A	G	7: 80,494,216	M822T	probably damaging	Het
Car15	T	C	16: 17,836,849	N102D	probably benign	Het
Cdk14	A	T	5: 5,380,079	M16K	probably benign	Het
Cep350	A	G	1: 155,862,376	Y2574H	probably damaging	Het
Coro1a	C	A	7: 126,702,016	C104F	probably damaging	Het
D130043K22Rik	T	A	13: 24,889,869	L977Q	probably benign	Het
Dnajb11	A	T	16: 22,862,585	I38L	probably benign	Het
Eppk1	C	T	15: 76,110,119	R854Q	probably benign	Het
Fat4	A	C	3: 38,977,494	H2476P	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Gm14326	G	A	2: 177,945,659	R515W	probably damaging	Het
Gm49368	T	C	7: 128,080,261	Y192H	probably damaging	Het
Gm7579	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	7: 142,212,045		probably benign	Het
Gpr182	T	C	10: 127,750,992	H30R	probably benign	Het
Gprc5c	T	A	11: 114,864,268	V257E	probably damaging	Het
Iars2	T	C	1: 185,287,144	T982A	probably benign	Het
Ighg2b	C	A	12: 113,306,932	A193S	probably damaging	Het
Izumo1	T	A	7: 45,626,254	V329E	possibly damaging	Het
Kcnj6	A	T	16: 94,762,391	V398E	possibly damaging	Het
Lef1	T	A	3: 131,115,489	N117K	possibly damaging	Het
Ltbp4	T	C	7: 27,325,241	S655G	possibly damaging	Het
Magi3	A	T	3: 104,219,668	I100N	probably damaging	Het
Mettl17	G	A	14: 51,888,800	A222T	probably benign	Het
Notch4	A	G	17: 34,568,420	E318G	probably damaging	Het
Nqo2	A	T	13: 33,985,314		probably null	Het
Olfr1077-ps1	A	T	2: 86,526,042	M45K	probably damaging	Het
Ptpn18	T	C	1: 34,472,148	S324P	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rin1	A	G	19: 5,052,072	D203G	probably damaging	Het
Serpinb9c	T	A	13: 33,156,434	E128V	probably damaging	Het
Slc3a1	C	A	17: 85,028,497	N22K	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Tmco4	G	T	4: 139,053,940	V472L	probably benign	Het
Tmem132d	T	C	5: 128,268,735	E241G	probably benign	Het
Trim17	T	A	11: 58,971,455	S438T	probably damaging	Het
Trmt44	T	C	5: 35,575,030	R6G	probably benign	Het
Vcl	G	T	14: 20,995,059	L277F	probably benign	Het
Vmn2r68	C	T	7: 85,234,440	M152I	probably benign	Het
Vmn2r94	C	T	17: 18,243,722	V769I	possibly damaging	Het
Vps13d	G	T	4: 145,016,783	S3027*	probably null	Het
Zfp282	A	G	6: 47,904,627	Q416R	probably benign	Het
Zfp668	A	G	7: 127,867,220	L264P	probably damaging	Het
Zfp747	A	G	7: 127,374,483	Y172H	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
R8440:Dcaf1	UTSW	9	106847874	missense	possibly damaging	0.94
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'- TCATCAATTGTGTATGTGGTCCAG -3'
(R):5'- GGCTTTCCTGATACACGCTC -3'

Sequencing Primer
(F):5'- TGTGGTCCAGATAACCGAATATCCAG -3'
(R):5'- GCAGCGTATTTGCAGAACTTGAC -3'

Posted On

2021-01-18