Mutagenetix > Incidental Mutation

Incidental Mutation 'R0164:Dcaf1'

24050

Institutional Source

Beutler Lab

Gene Symbol

Dcaf1

Ensembl Gene

ENSMUSG00000040325

Gene Name

DDB1 and CUL4 associated factor 1

Synonyms

B930007L02Rik, Vprbp

MMRRC Submission

038440-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0164 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

106821874-106880992 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106844145 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 379 (S379T)

Ref Sequence

ENSEMBL: ENSMUSP00000125730 (fasta)

Gene Model

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

AlphaFold

Q80TR8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055009
AA Change: S379T

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: S379T

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: S379T

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: S379T

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: S379T

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: S379T

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

0.0868

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

98% (85/87)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159		probably benign	Het
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	10: 95,794,578		probably null	Het
4930522L14Rik	T	C	5: 109,736,847	K382E	probably damaging	Het
Adck1	A	G	12: 88,455,510	E297G	probably damaging	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
Aldh3a2	C	T	11: 61,248,888	V473I	probably benign	Het
Arfgef3	A	T	10: 18,647,915	I369K	possibly damaging	Het
Atl2	A	G	17: 79,853,831		probably benign	Het
Atp1b3	T	C	9: 96,338,709	I178V	possibly damaging	Het
Axdnd1	T	C	1: 156,378,386	E520G	possibly damaging	Het
Bahcc1	A	T	11: 120,285,074		probably benign	Het
BB019430	A	T	10: 58,704,271		noncoding transcript	Het
BC028528	A	T	3: 95,887,334		probably benign	Het
Btbd1	T	A	7: 81,801,003	Q343L	probably benign	Het
Catsper1	A	G	19: 5,339,475	T473A	possibly damaging	Het
Chmp6	G	A	11: 119,915,523		probably null	Het
D130040H23Rik	T	C	8: 69,302,543	V200A	possibly damaging	Het
D830013O20Rik	C	T	12: 73,364,331		noncoding transcript	Het
Dcaf4	G	A	12: 83,535,988		probably benign	Het
Dhx58	T	C	11: 100,695,324	I624V	probably benign	Het
Disp3	T	C	4: 148,254,251	E821G	probably damaging	Het
Dlc1	T	A	8: 36,599,440	E464V	probably damaging	Het
Dnah10	G	A	5: 124,783,834	V2151I	probably damaging	Het
Dnah6	C	T	6: 73,188,535		probably benign	Het
Dnah8	G	A	17: 30,748,665	G2617D	probably benign	Het
Dnah9	C	A	11: 65,918,804	E872*	probably null	Het
Dock9	T	C	14: 121,597,665	Y99C	probably damaging	Het
Dpy19l3	T	A	7: 35,716,646	I310F	probably damaging	Het
Fggy	A	T	4: 95,837,654	I137F	probably damaging	Het
Gli2	A	G	1: 118,890,283		probably benign	Het
Gm14421	A	T	2: 177,056,722		noncoding transcript	Het
Gm5689	T	A	18: 42,173,543	D58E	probably damaging	Het
Grin2a	A	G	16: 9,994,821		probably null	Het
Grin2b	A	G	6: 135,778,648		probably benign	Het
Incenp	A	G	19: 9,894,879	S72P	probably benign	Het
Ipo11	A	G	13: 106,910,194		probably benign	Het
Klc3	T	A	7: 19,394,926	N469Y	possibly damaging	Het
Lrrc42	A	G	4: 107,247,505	S88P	probably benign	Het
Lrrc49	G	A	9: 60,680,600	T93I	probably benign	Het
Ltn1	G	A	16: 87,405,519		probably benign	Het
Mlycd	A	T	8: 119,407,641	Q294L	probably damaging	Het
Mmrn1	T	A	6: 60,975,815		probably benign	Het
Mrpl22	T	A	11: 58,171,821	I19N	probably benign	Het
Msh3	T	A	13: 92,349,209	K202N	probably damaging	Het
N4bp2	T	C	5: 65,803,573		probably benign	Het
Ncam1	C	T	9: 49,568,409	D90N	probably damaging	Het
Nckap5	A	T	1: 126,024,407	D1405E	possibly damaging	Het
Ncoa2	A	G	1: 13,186,731		probably null	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Nlrp1b	A	T	11: 71,164,099	W844R	probably damaging	Het
Nmnat1	G	T	4: 149,469,150	N168K	possibly damaging	Het
Olfr1446	A	G	19: 12,890,445	L44P	probably damaging	Het
Ost4	T	C	5: 30,907,459	H26R	probably damaging	Het
Otog	G	A	7: 46,304,231	V2638M	probably damaging	Het
Otogl	A	T	10: 107,874,530	I566N	probably damaging	Het
Pcyt1a	T	C	16: 32,470,186	S282P	probably damaging	Het
Prkcg	G	A	7: 3,329,119	E581K	probably damaging	Het
Ralgps2	A	G	1: 156,887,089		probably null	Het
Rnf157	A	G	11: 116,354,810		probably benign	Het
Scmh1	T	C	4: 120,529,865		probably benign	Het
Sgo2b	T	C	8: 63,938,383	H150R	possibly damaging	Het
Sh2b3	T	G	5: 121,829,037	T5P	probably damaging	Het
Skint6	A	T	4: 112,991,236		probably benign	Het
Slfn10-ps	T	C	11: 83,035,302		noncoding transcript	Het
Sspo	T	A	6: 48,494,194		probably benign	Het
Tcp1	T	A	17: 12,922,747		probably benign	Het
Tdp2	A	G	13: 24,838,239	M214V	probably damaging	Het
Tenm4	T	G	7: 96,729,340		probably benign	Het
Tmem144	G	A	3: 79,839,273		probably benign	Het
Tmem204	A	G	17: 25,058,350	I187T	probably damaging	Het
Tmem208	T	G	8: 105,334,694	D117E	probably benign	Het
Tnks1bp1	C	T	2: 85,059,221	P631S	possibly damaging	Het
Tomm70a	T	C	16: 57,147,821	V517A	probably damaging	Het
Ttc7	T	C	17: 87,379,895	V801A	probably damaging	Het
Txndc5	A	T	13: 38,507,953	C146S	probably damaging	Het
Ubac2	A	G	14: 122,008,917		probably benign	Het
Ube4b	G	T	4: 149,360,324	T493K	probably damaging	Het
Ufl1	A	T	4: 25,256,008	Y504N	probably benign	Het
Ugt1a6a	T	C	1: 88,139,270	V266A	possibly damaging	Het
Ugt1a6b	T	A	1: 88,107,467	C176S	probably damaging	Het
Ulk3	T	A	9: 57,590,686	I90N	probably damaging	Het
Unc13c	T	C	9: 73,694,892	I1357M	probably benign	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vmn2r114	A	G	17: 23,309,826		probably null	Het
Vmn2r91	A	C	17: 18,106,137	N228T	probably benign	Het
Wdr43	T	G	17: 71,631,997		probably benign	Het
Wisp1	T	C	15: 66,919,210	L287P	probably damaging	Het
Zbtb6	G	T	2: 37,429,588	Y109*	probably null	Het
Zfp980	A	G	4: 145,701,997	D432G	probably benign	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
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
R9760:Dcaf1	UTSW	9	106874267	missense	unknown
X0019:Dcaf1	UTSW	9	106834159	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGCGTCATGTTTAGCAAGGCCC -3'
(R):5'- TGTGCTGTTTTAAAGAGATGGTCCCC -3'

Sequencing Primer
(F):5'- atccacctgcctctgcc -3'
(R):5'- TTAAAGAGATGGTCCCCATCAAATC -3'

Posted On

2013-04-16