Mutagenetix > Incidental Mutation

Incidental Mutation 'R8728:Dcaf1'

662581

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 #

R8728 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106821874-106880992 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106846806 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 478 (R478C)

Ref Sequence

ENSEMBL: ENSMUSP00000123865 (fasta)

Gene Model

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

AlphaFold

Q80TR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000055009
AA Change: R478C

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: R478C

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

possibly damaging
Transcript: ENSMUST00000159645
AA Change: R478C

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: R478C

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

possibly damaging
Transcript: ENSMUST00000161758
AA Change: R478C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: R478C

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

0.0664

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430105I19Rik	T	C	2: 118,757,312	T514A	probably benign	Het
Adam2	A	G	14: 66,057,637	L253P	probably damaging	Het
Adamts20	C	T	15: 94,331,400	G946D	probably benign	Het
Afdn	A	G	17: 13,898,945	R1648G	probably damaging	Het
Ak9	G	A	10: 41,406,963	A1242T		Het
Anxa9	T	C	3: 95,302,668	K127E	probably damaging	Het
Atp6v0a2	T	C	5: 124,719,088	S739P	probably benign	Het
Bloc1s6	A	T	2: 122,746,106	M122L	possibly damaging	Het
Bms1	A	G	6: 118,392,370	I990T	possibly damaging	Het
Cdk14	G	A	5: 5,420,117		silent	Het
Celsr3	T	C	9: 108,846,741	L2899S	probably benign	Het
Ces1b	A	T	8: 93,071,948	D203E	probably benign	Het
Cnnm1	A	G	19: 43,484,926	N753S	probably benign	Het
Col19a1	C	T	1: 24,326,032	G501R	probably damaging	Het
Cym	A	G	3: 107,218,675	F91L	possibly damaging	Het
Cyp2c67	T	G	19: 39,626,161	R307S	probably damaging	Het
Cyp3a59	G	A	5: 146,098,312		probably null	Het
Cyp4a31	G	A	4: 115,565,028	E70K	probably benign	Het
Dagla	G	A	19: 10,248,407	R798C	probably damaging	Het
Dcbld1	T	C	10: 52,233,833	L28P	probably benign	Het
Ddr2	T	C	1: 170,001,983	D234G	possibly damaging	Het
Fam83a	T	A	15: 58,009,666	M297K	possibly damaging	Het
Galnt18	T	A	7: 111,520,036	D426V	probably damaging	Het
Gm10093	A	G	17: 78,492,903	K441R	probably benign	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 142,156,529		probably benign	Het
Gm43302	T	C	5: 105,290,927	I32V	probably benign	Het
Gm9944	T	C	4: 144,453,031	Y96C	unknown	Het
Impdh2	C	T	9: 108,560,363		probably benign	Het
Iws1	G	A	18: 32,083,281	R358Q	probably damaging	Het
Kctd18	G	T	1: 57,963,130	D179E	probably damaging	Het
Krt13	T	G	11: 100,121,492	S2R	probably null	Het
Krt78	A	T	15: 101,947,790	S529T	probably benign	Het
Krtap4-7	C	G	11: 99,643,962	C25S	unknown	Het
Lama1	T	C	17: 67,818,668	I2940T		Het
Lmnb2	A	G	10: 80,905,079		probably null	Het
Lrrc27	A	T	7: 139,242,639	E482V	probably damaging	Het
Lrrc72	G	A	12: 36,208,657	T67M	probably benign	Het
Malrd1	T	A	2: 15,696,942	C789*	probably null	Het
Mei1	T	G	15: 82,081,981	V268G		Het
Mical3	C	A	6: 120,973,553	A966S	probably damaging	Het
Mmp10	C	T	9: 7,502,479	P29L	probably benign	Het
Mroh2b	T	C	15: 4,905,640	F186L	probably damaging	Het
Muc4	A	T	16: 32,754,952	T1609S	unknown	Het
Myrfl	A	T	10: 116,798,640	C616*	probably null	Het
Ncor1	C	T	11: 62,330,859	A946T	probably benign	Het
Olfr122	C	A	17: 37,771,751	L33M	probably damaging	Het
Olfr330	T	C	11: 58,529,201	T262A	probably benign	Het
Pbp2	T	C	6: 135,310,106	Y81C	probably benign	Het
Plekhh1	C	A	12: 79,069,088	Q802K	possibly damaging	Het
Pnldc1	A	T	17: 12,897,278	F279Y	probably damaging	Het
Psmb5	A	T	14: 54,617,804	L63Q	probably damaging	Het
Rasa3	C	T	8: 13,586,873		probably null	Het
Rbm4b	G	A	19: 4,762,191	M209I	probably benign	Het
Rnf38	A	G	4: 44,131,615	S421P	probably benign	Het
Sema5a	T	C	15: 32,562,557	V238A	probably damaging	Het
Sesn1	G	T	10: 41,903,775	G402W	probably damaging	Het
Six4	A	G	12: 73,112,406	V260A	probably benign	Het
Srrm2	G	A	17: 23,819,857	R1825Q	unknown	Het
Stat1	G	A	1: 52,139,194	W262*	probably null	Het
Tcf20	A	T	15: 82,854,957	D764E	probably damaging	Het
Tgm2	T	C	2: 158,120,145	N585D	probably benign	Het
Tmf1	A	T	6: 97,156,860	L1039H	probably damaging	Het
Trak2	A	G	1: 58,935,775	V86A	probably benign	Het
Ttc39b	A	G	4: 83,253,010	I202T	probably damaging	Het
Uhrf1bp1l	A	T	10: 89,782,720	M274L	probably benign	Het
Vmn1r30	A	G	6: 58,435,475	F124S	probably benign	Het
Vwa7	T	A	17: 35,017,157	F29Y	probably damaging	Het
Wdr64	A	T	1: 175,731,513	M281L	probably benign	Het
Zfand2a	C	T	5: 139,481,998	V40M	possibly damaging	Het
Zfp865	G	C	7: 5,031,820	A935P	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
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'- TTATCAAAGATACCTCTGCCCC -3'
(R):5'- ATCAGAAAGATTCTCCCAGCTG -3'

Sequencing Primer
(F):5'- TATCAAAGATACCTCTGCCCCAAATG -3'
(R):5'- GCAGTGATATGTACCTGTGATCCC -3'

Posted On

2021-03-08