Mutagenetix > Incidental Mutation

Incidental Mutation 'R1845:Dcaf1'

207660

Institutional Source

Beutler Lab

Gene Symbol

Dcaf1

Ensembl Gene

ENSMUSG00000040325

Gene Name

DDB1 and CUL4 associated factor 1

Synonyms

B930007L02Rik, Vprbp

MMRRC Submission

039870-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1845 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106699073-106758191 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 106729161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 567 (I567L)

Ref Sequence

ENSEMBL: ENSMUSP00000125730 (fasta)

Gene Model

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

AlphaFold

Q80TR8

Predicted Effect

probably benign
Transcript: ENSMUST00000055009
AA Change: I567L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: I567L

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: I567L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: I567L

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: I567L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: I567L

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

noncoding transcript
Transcript: ENSMUST00000188343

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.7%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	CGGG	CGGGGGG	15: 76,833,863 (GRCm39)		probably benign	Het
Abca17	A	T	17: 24,486,690 (GRCm39)	C1446S	probably damaging	Het
Asb16	C	A	11: 102,167,582 (GRCm39)	A316E	possibly damaging	Het
Axdnd1	C	T	1: 156,204,114 (GRCm39)	V384I	possibly damaging	Het
BC024139	A	T	15: 76,009,461 (GRCm39)	L207*	probably null	Het
Bcl3	T	G	7: 19,543,552 (GRCm39)	S305R	probably damaging	Het
Cachd1	T	C	4: 100,634,555 (GRCm39)	V77A	probably benign	Het
Cd101	C	T	3: 100,936,764 (GRCm39)		probably null	Het
Cela1	T	C	15: 100,583,048 (GRCm39)	N64S	probably benign	Het
Cep128	T	C	12: 91,256,372 (GRCm39)	D366G	probably benign	Het
Col12a1	A	G	9: 79,604,823 (GRCm39)	V675A	probably benign	Het
Copg1	A	G	6: 87,870,800 (GRCm39)	Y201C	probably damaging	Het
Cyp24a1	T	C	2: 170,329,837 (GRCm39)	R372G	probably benign	Het
Dcn	A	G	10: 97,342,536 (GRCm39)	D164G	probably benign	Het
Dnase2a	T	A	8: 85,635,951 (GRCm39)	H113Q	probably benign	Het
Espl1	T	C	15: 102,207,448 (GRCm39)	V304A	probably benign	Het
Fam193a	A	G	5: 34,600,716 (GRCm39)	D315G	possibly damaging	Het
Fkbp8	T	A	8: 70,983,685 (GRCm39)		probably null	Het
Foxp4	T	A	17: 48,188,884 (GRCm39)	T321S	probably null	Het
Fut10	A	G	8: 31,726,328 (GRCm39)	N361S	probably damaging	Het
Gyg1	A	T	3: 20,205,286 (GRCm39)	V94D	probably damaging	Het
Has2	T	C	15: 56,531,974 (GRCm39)	K247R	probably damaging	Het
Helz2	G	T	2: 180,873,878 (GRCm39)	D2205E	probably benign	Het
Hps6	T	A	19: 45,993,409 (GRCm39)	S449T	probably benign	Het
Ints10	T	C	8: 69,247,323 (GRCm39)	Y64H	probably damaging	Het
Kalrn	T	C	16: 34,177,331 (GRCm39)	H278R	probably damaging	Het
Klhdc8a	T	C	1: 132,231,548 (GRCm39)	V280A	possibly damaging	Het
Klk1b5	A	G	7: 43,869,549 (GRCm39)	M210V	probably benign	Het
Kmt2c	G	A	5: 25,578,434 (GRCm39)	A614V	probably benign	Het
Lck	T	A	4: 129,451,879 (GRCm39)	I45F	probably benign	Het
Lin7a	A	C	10: 107,247,920 (GRCm39)	E75A	probably damaging	Het
Lrp1	A	T	10: 127,414,542 (GRCm39)	C1070S	probably damaging	Het
Mapk8ip3	G	T	17: 25,133,557 (GRCm39)	N289K	probably benign	Het
Mbtps1	T	C	8: 120,249,232 (GRCm39)	D686G	probably benign	Het
Mknk1	T	A	4: 115,730,428 (GRCm39)	C178*	probably null	Het
Mtmr6	A	G	14: 60,534,184 (GRCm39)	N474S	probably damaging	Het
Mvb12b	A	G	2: 33,730,169 (GRCm39)		probably null	Het
Myh6	T	C	14: 55,182,131 (GRCm39)	K1759R	probably damaging	Het
Nfatc1	T	C	18: 80,678,746 (GRCm39)	K881E	possibly damaging	Het
Nlrp10	A	G	7: 108,526,248 (GRCm39)	F30S	probably damaging	Het
Nop14	G	T	5: 34,807,672 (GRCm39)	A430E	possibly damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or1j18	A	T	2: 36,624,854 (GRCm39)	I174F	probably damaging	Het
Or4c107	A	G	2: 88,789,211 (GRCm39)	I134V	probably damaging	Het
Or4c108	A	G	2: 88,803,482 (GRCm39)	V251A	probably benign	Het
Or6c205	A	G	10: 129,086,463 (GRCm39)	E20G	probably benign	Het
Or6c88	A	T	10: 129,407,217 (GRCm39)	Q231L	probably damaging	Het
Or7g17	A	T	9: 18,768,782 (GRCm39)	Y287F	possibly damaging	Het
Osbpl7	C	A	11: 96,949,954 (GRCm39)	S378R	probably damaging	Het
Otof	A	T	5: 30,529,067 (GRCm39)	Y1775*	probably null	Het
Parp16	T	C	9: 65,122,876 (GRCm39)	S46P	possibly damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pi16	A	T	17: 29,538,361 (GRCm39)	Q58L	possibly damaging	Het
Pld3	C	A	7: 27,238,877 (GRCm39)	M190I	probably benign	Het
Plscr4	T	G	9: 92,372,099 (GRCm39)	I290S	probably damaging	Het
Ppip5k2	T	C	1: 97,651,531 (GRCm39)	D928G	possibly damaging	Het
Ppp1r13l	T	A	7: 19,102,536 (GRCm39)	L15Q	probably damaging	Het
Prorp	T	A	12: 55,351,117 (GRCm39)	I142N	possibly damaging	Het
Ptpn14	C	A	1: 189,571,699 (GRCm39)	S263R	possibly damaging	Het
Sema7a	G	A	9: 57,862,182 (GRCm39)	V178I	possibly damaging	Het
Sesn2	A	T	4: 132,224,381 (GRCm39)	Y342*	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sltm	A	G	9: 70,450,314 (GRCm39)	N38S	possibly damaging	Het
Smg1	T	C	7: 117,753,845 (GRCm39)		probably benign	Het
Spsb1	A	T	4: 149,991,367 (GRCm39)	V67E	probably damaging	Het
Suox	A	G	10: 128,506,408 (GRCm39)	V540A	possibly damaging	Het
Tbc1d12	T	A	19: 38,899,529 (GRCm39)	I483N	probably damaging	Het
Tbcb	A	T	7: 29,923,924 (GRCm39)	D198E	possibly damaging	Het
Tbce	T	C	13: 14,194,294 (GRCm39)	K122E	probably benign	Het
Tcap	T	A	11: 98,275,205 (GRCm39)	L113H	probably damaging	Het
Thsd7a	A	T	6: 12,321,040 (GRCm39)	I1545N	probably damaging	Het
Tmed10	T	C	12: 85,421,277 (GRCm39)	T55A	possibly damaging	Het
Tmem268	T	A	4: 63,498,180 (GRCm39)	V200D	probably damaging	Het
Tmem45b	A	C	9: 31,342,651 (GRCm39)	I50M	probably damaging	Het
Trp53bp2	T	C	1: 182,286,468 (GRCm39)	W1103R	probably damaging	Het
Ttn	C	T	2: 76,594,377 (GRCm39)	V20524M	probably damaging	Het
Ulk2	A	T	11: 61,703,564 (GRCm39)	N379K	probably benign	Het
Vmn1r59	A	G	7: 5,457,553 (GRCm39)	V69A	probably benign	Het
Vmn2r10	A	T	5: 109,149,861 (GRCm39)	Y394*	probably null	Het
Zfp212	T	C	6: 47,908,475 (GRCm39)	S485P	probably benign	Het
Zfp512b	A	T	2: 181,227,528 (GRCm39)	C776S	probably damaging	Het
Zfp518b	A	G	5: 38,829,084 (GRCm39)	Y974H	probably damaging	Het

Other mutations in Dcaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Dcaf1	APN	9	106,735,532 (GRCm39)	missense	probably benign	0.45
IGL01314:Dcaf1	APN	9	106,711,390 (GRCm39)	missense	probably benign	0.07
IGL01395:Dcaf1	APN	9	106,735,361 (GRCm39)	missense	possibly damaging	0.73
IGL01936:Dcaf1	APN	9	106,736,800 (GRCm39)	missense	possibly damaging	0.81
IGL02089:Dcaf1	APN	9	106,740,310 (GRCm39)	missense	probably benign	0.40
IGL02596:Dcaf1	APN	9	106,740,220 (GRCm39)	missense	probably damaging	1.00
IGL02828:Dcaf1	APN	9	106,721,501 (GRCm39)	splice site	probably benign
IGL03036:Dcaf1	APN	9	106,721,339 (GRCm39)	missense	probably damaging	1.00
IGL03327:Dcaf1	APN	9	106,735,823 (GRCm39)	missense	possibly damaging	0.79
Americano	UTSW	9	106,757,158 (GRCm39)	nonsense	probably null
Latte	UTSW	9	106,723,971 (GRCm39)	nonsense	probably null
IGL02799:Dcaf1	UTSW	9	106,735,139 (GRCm39)	missense	probably benign	0.42
P0023:Dcaf1	UTSW	9	106,737,650 (GRCm39)	missense	probably benign	0.40
R0087:Dcaf1	UTSW	9	106,740,288 (GRCm39)	missense	probably damaging	1.00
R0164:Dcaf1	UTSW	9	106,721,344 (GRCm39)	missense	possibly damaging	0.94
R0164:Dcaf1	UTSW	9	106,721,344 (GRCm39)	missense	possibly damaging	0.94
R0562:Dcaf1	UTSW	9	106,721,321 (GRCm39)	splice site	probably benign
R0690:Dcaf1	UTSW	9	106,723,848 (GRCm39)	splice site	probably benign
R1373:Dcaf1	UTSW	9	106,735,079 (GRCm39)	missense	probably benign	0.18
R1508:Dcaf1	UTSW	9	106,731,376 (GRCm39)	missense	probably damaging	1.00
R1765:Dcaf1	UTSW	9	106,741,793 (GRCm39)	missense	probably damaging	1.00
R2016:Dcaf1	UTSW	9	106,716,287 (GRCm39)	missense	probably benign	0.41
R2017:Dcaf1	UTSW	9	106,725,122 (GRCm39)	missense	probably damaging	0.99
R2017:Dcaf1	UTSW	9	106,716,287 (GRCm39)	missense	probably benign	0.41
R2246:Dcaf1	UTSW	9	106,731,376 (GRCm39)	missense	possibly damaging	0.94
R2321:Dcaf1	UTSW	9	106,715,672 (GRCm39)	missense	probably benign	0.04
R4528:Dcaf1	UTSW	9	106,721,403 (GRCm39)	missense	probably damaging	1.00
R4646:Dcaf1	UTSW	9	106,724,006 (GRCm39)	missense	probably benign	0.27
R4648:Dcaf1	UTSW	9	106,742,876 (GRCm39)	unclassified	probably benign
R4742:Dcaf1	UTSW	9	106,735,754 (GRCm39)	missense	probably benign	0.00
R5876:Dcaf1	UTSW	9	106,740,849 (GRCm39)	missense	probably damaging	1.00
R5926:Dcaf1	UTSW	9	106,715,561 (GRCm39)	missense	probably benign	0.02
R6057:Dcaf1	UTSW	9	106,731,446 (GRCm39)	missense	probably damaging	0.99
R6335:Dcaf1	UTSW	9	106,715,845 (GRCm39)	missense	possibly damaging	0.63
R6518:Dcaf1	UTSW	9	106,712,788 (GRCm39)	missense	probably damaging	1.00
R6812:Dcaf1	UTSW	9	106,735,268 (GRCm39)	missense	probably damaging	1.00
R6829:Dcaf1	UTSW	9	106,715,803 (GRCm39)	missense	probably damaging	0.97
R6972:Dcaf1	UTSW	9	106,723,971 (GRCm39)	nonsense	probably null
R7175:Dcaf1	UTSW	9	106,735,775 (GRCm39)	missense	probably benign	0.32
R7650:Dcaf1	UTSW	9	106,715,543 (GRCm39)	missense	probably benign	0.01
R7734:Dcaf1	UTSW	9	106,715,878 (GRCm39)	missense	probably damaging	1.00
R8179:Dcaf1	UTSW	9	106,735,115 (GRCm39)	missense	probably damaging	1.00
R8230:Dcaf1	UTSW	9	106,735,914 (GRCm39)	missense	probably damaging	0.99
R8247:Dcaf1	UTSW	9	106,731,427 (GRCm39)	missense	possibly damaging	0.51
R8440:Dcaf1	UTSW	9	106,725,073 (GRCm39)	missense	possibly damaging	0.94
R8543:Dcaf1	UTSW	9	106,735,277 (GRCm39)	missense	probably benign	0.06
R8674:Dcaf1	UTSW	9	106,740,896 (GRCm39)	missense	probably damaging	1.00
R8728:Dcaf1	UTSW	9	106,724,005 (GRCm39)	missense	possibly damaging	0.92
R8807:Dcaf1	UTSW	9	106,742,268 (GRCm39)	missense	probably benign	0.05
R8883:Dcaf1	UTSW	9	106,724,839 (GRCm39)	intron	probably benign
R8953:Dcaf1	UTSW	9	106,735,542 (GRCm39)	missense	possibly damaging	0.66
R9018:Dcaf1	UTSW	9	106,742,836 (GRCm39)	missense	probably damaging	1.00
R9113:Dcaf1	UTSW	9	106,712,831 (GRCm39)	splice site	probably benign
R9300:Dcaf1	UTSW	9	106,725,042 (GRCm39)	missense	possibly damaging	0.92
R9414:Dcaf1	UTSW	9	106,757,158 (GRCm39)	nonsense	probably null
R9428:Dcaf1	UTSW	9	106,735,528 (GRCm39)	missense	possibly damaging	0.52
R9486:Dcaf1	UTSW	9	106,735,916 (GRCm39)	missense	possibly damaging	0.88
R9685:Dcaf1	UTSW	9	106,713,818 (GRCm39)	missense	probably benign	0.01
R9700:Dcaf1	UTSW	9	106,735,524 (GRCm39)	missense	probably benign	0.01
R9760:Dcaf1	UTSW	9	106,751,466 (GRCm39)	missense	unknown
X0019:Dcaf1	UTSW	9	106,711,358 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGGACTAAACATTATGTAGCAGTGC -3'
(R):5'- CATGTGCAAGGTCCTGGATTG -3'

Sequencing Primer
(F):5'- TAGCAGTGCTTTACATAGGGAC -3'
(R):5'- GCTCCTCAAGAACTTACATGTGAGG -3'

Posted On

2014-06-23