Mutagenetix > Incidental Mutation

Incidental Mutation 'R6518:Dcaf1'

520901

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 #

R6518 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106821874-106880992 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106835589 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 112 (I112T)

Ref Sequence

ENSEMBL: ENSMUSP00000125730 (fasta)

Gene Model

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

AlphaFold

Q80TR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000055009
AA Change: I112T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: I112T

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 damaging
Transcript: ENSMUST00000159645
AA Change: I112T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: I112T

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 damaging
Transcript: ENSMUST00000161758
AA Change: I112T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: I112T

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

0.2003

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

98% (48/49)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,266,411	D88G	probably damaging	Het
Abcc12	A	G	8: 86,509,089			Het
Angptl6	T	C	9: 20,875,360	H330R	probably damaging	Het
Asxl3	T	A	18: 22,516,340	V462E	probably damaging	Het
Atp13a2	G	C	4: 141,000,854	R503P	possibly damaging	Het
C1ra	T	A	6: 124,521,575		probably null	Het
C2	T	A	17: 34,864,118	I426F	probably damaging	Het
C4b	A	T	17: 34,734,205	Y1049N	probably damaging	Het
Cdkn1b	T	A	6: 134,921,320	M134K	probably benign	Het
Cenpn	A	G	8: 116,937,165	D145G	possibly damaging	Het
Ckap2	A	T	8: 22,173,303	I492K	probably benign	Het
Cog2	G	A	8: 124,527,103	W67*	probably null	Het
Col7a1	T	C	9: 108,955,527	F172L	unknown	Het
Ddx4	T	C	13: 112,604,547	I518V	probably benign	Het
Dnah10	T	C	5: 124,758,355	L908P	probably damaging	Het
Dsg3	T	C	18: 20,533,422	Y563H	probably benign	Het
Gm12394	A	G	4: 42,791,750	I794T	probably benign	Het
Gm16686	A	C	4: 88,755,488		probably benign	Het
Gpr139	A	T	7: 119,144,511	F284I	probably damaging	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Ice1	A	T	13: 70,606,309	F553I	possibly damaging	Het
Igkv6-29	T	A	6: 70,138,513	Q99L	probably damaging	Het
Lipt1	A	G	1: 37,875,775	N304S	probably benign	Het
Lmo1	A	C	7: 109,143,576	L39R	probably damaging	Het
Mcc	T	A	18: 44,661,811		probably benign	Het
Mindy3	T	C	2: 12,382,129	T74A	probably damaging	Het
Olfr1507	T	C	14: 52,490,620	I115V	probably damaging	Het
Olfr71	A	G	4: 43,706,334	V78A	probably benign	Het
Olfr96	G	T	17: 37,225,268	A48S	probably benign	Het
Ormdl1	T	C	1: 53,308,957	Y153H	probably benign	Het
Pdzrn3	A	T	6: 101,150,514	*1064K	probably null	Het
Pias1	A	G	9: 62,951,860	L113P	probably damaging	Het
Piezo2	A	T	18: 63,106,271	I514N	probably damaging	Het
Prkd1	T	C	12: 50,425,495	T212A	probably benign	Het
Rnf219	A	T	14: 104,479,065	L624H	probably damaging	Het
Rsph10b	A	G	5: 143,963,873	Y151C	probably damaging	Het
Samhd1	G	A	2: 157,114,297	T325M	possibly damaging	Het
Seh1l	A	G	18: 67,789,449	T291A	probably damaging	Het
Smim24	A	G	10: 81,393,861	M1V	probably null	Het
Sp140	TTTTTTTTTTTT	TTTTTTTTTTTTTTTTT	1: 85,644,570		probably benign	Het
Speer3	T	G	5: 13,795,448	I165S	possibly damaging	Het
Timm23	A	G	14: 32,201,637		probably null	Het
Tmem17	A	T	11: 22,517,427	Y75F	possibly damaging	Het
Tmem86b	A	T	7: 4,629,609	C85*	probably null	Het
Try5	A	G	6: 41,314,679	F6S	probably benign	Het
Vmn2r71	G	T	7: 85,621,228	C534F	probably damaging	Het
Vmn2r85	A	T	10: 130,429,412	D67E	probably benign	Het
Wars2	A	T	3: 99,216,800	M326L	probably benign	Het
Wdr70	A	T	15: 8,079,337	S108R	unknown	Het
Zfp677	A	G	17: 21,398,130	H483R	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
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'- AGTTTTGAGGTCAGACTGAGC -3'
(R):5'- CCACTGCCTGAATATACCGC -3'

Sequencing Primer
(F):5'- GTCAGACTGAGCTACATAAGACTCTG -3'
(R):5'- ACTGCCTGAATATACCGCTTTTTG -3'

Posted On

2018-06-06