Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01314:Dcaf1'

73780

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dcaf1

Ensembl Gene

ENSMUSG00000040325

Gene Name

DDB1 and CUL4 associated factor 1

Synonyms

B930007L02Rik, Vprbp

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01314

Quality Score

Status

Chromosome

Chromosomal Location

106699073-106758191 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106711390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 77 (I77T)

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: I77T

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: I77T

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: I77T

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: I77T

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: I77T

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: I77T

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

Coding Region Coverage

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	C	T	15: 11,071,939 (GRCm39)	A161V	probably benign	Het
Bptf	A	T	11: 106,945,679 (GRCm39)	V2520E	probably damaging	Het
C87436	T	C	6: 86,434,837 (GRCm39)	F395S	probably damaging	Het
Capn1	T	C	19: 6,040,014 (GRCm39)		probably benign	Het
Ceacam5	T	A	7: 17,481,181 (GRCm39)	Y309*	probably null	Het
Clasp2	A	G	9: 113,735,195 (GRCm39)	D1011G	possibly damaging	Het
Csmd3	A	G	15: 47,713,151 (GRCm39)	Y1608H	probably damaging	Het
Dcdc2a	T	C	13: 25,286,587 (GRCm39)	L170P	probably damaging	Het
Ddx28	A	G	8: 106,737,212 (GRCm39)	F282S	probably damaging	Het
Egf	A	G	3: 129,479,909 (GRCm39)	I497T	probably benign	Het
Emsy	A	G	7: 98,242,662 (GRCm39)	V1159A	probably benign	Het
Hk3	C	A	13: 55,154,876 (GRCm39)		probably benign	Het
Htt	A	G	5: 35,036,200 (GRCm39)	D2049G	probably benign	Het
Inpp5d	C	A	1: 87,611,472 (GRCm39)	S45*	probably null	Het
Irf8	A	G	8: 121,480,119 (GRCm39)	Y119C	probably damaging	Het
Klk1b4	T	C	7: 43,860,600 (GRCm39)		probably null	Het
Macf1	A	G	4: 123,380,513 (GRCm39)	S1273P	probably damaging	Het
Man2c1	A	T	9: 57,049,103 (GRCm39)	H867L	probably benign	Het
Mgat4e	T	C	1: 134,469,187 (GRCm39)	T286A	probably damaging	Het
Mug2	T	C	6: 122,058,238 (GRCm39)	F1267L	possibly damaging	Het
Necab1	T	A	4: 15,005,079 (GRCm39)	E128D	probably damaging	Het
Or10ak9	G	A	4: 118,726,328 (GRCm39)	V117I	probably benign	Het
Pds5a	A	G	5: 65,772,637 (GRCm39)	V1322A	probably benign	Het
Poc1b	C	T	10: 98,965,503 (GRCm39)	T144I	probably damaging	Het
Prcc	T	A	3: 87,777,387 (GRCm39)	N196Y	probably damaging	Het
Psma5	G	A	3: 108,187,111 (GRCm39)	V237M	possibly damaging	Het
Rap1gds1	A	G	3: 138,756,322 (GRCm39)	L11P	probably damaging	Het
Rapgef3	A	G	15: 97,646,104 (GRCm39)	F132S	probably damaging	Het
Rgs13	T	G	1: 144,047,179 (GRCm39)	D14A	probably benign	Het
Rlig1	A	C	10: 100,409,473 (GRCm39)	D313E	probably damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Tcerg1	C	A	18: 42,706,374 (GRCm39)	A1017D	probably damaging	Het
Tent5c	T	C	3: 100,380,490 (GRCm39)	K89E	probably benign	Het
Tmem79	T	C	3: 88,239,883 (GRCm39)	I276V	possibly damaging	Het
Tmem94	C	A	11: 115,680,835 (GRCm39)	H113N	probably damaging	Het
Vil1	G	A	1: 74,467,397 (GRCm39)	D715N	probably damaging	Het
Vmn2r96	A	G	17: 18,803,226 (GRCm39)	T187A	probably benign	Het
Zfhx4	T	A	3: 5,478,154 (GRCm39)	S3590T	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
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
R1845:Dcaf1	UTSW	9	106,729,161 (GRCm39)	missense	probably benign	0.01
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

Posted On

2013-10-07