Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02887:Dcaf11'

363787

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dcaf11

Ensembl Gene

ENSMUSG00000022214

Gene Name

DDB1 and CUL4 associated factor 11

Synonyms

0710008A13Rik, D14Ucla1, Wdr23, GLO14

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02887

Quality Score

Status

Chromosome

Chromosomal Location

55797463-55807522 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55801592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 187 (F187L)

Ref Sequence

ENSEMBL: ENSMUSP00000119001 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066106] [ENSMUST00000072530] [ENSMUST00000117236] [ENSMUST00000117701] [ENSMUST00000121622] [ENSMUST00000128490] [ENSMUST00000150481] [ENSMUST00000152681] [ENSMUST00000143375] [ENSMUST00000150019] [ENSMUST00000143431] [ENSMUST00000147981] [ENSMUST00000133256]

AlphaFold

Q91VU6

Predicted Effect

probably benign
Transcript: ENSMUST00000066106

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072530
AA Change: F187L

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072344
Gene: ENSMUSG00000022214
AA Change: F187L

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
WD40	162	200	8.91e-1	SMART
WD40	205	246	8.25e0	SMART
WD40	252	293	2.39e0	SMART
WD40	296	336	1.44e-5	SMART
WD40	344	383	1.26e-5	SMART
WD40	424	469	1.72e0	SMART
WD40	472	511	1.49e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117236
AA Change: F187L

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113014
Gene: ENSMUSG00000022214
AA Change: F187L

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
WD40	162	200	8.91e-1	SMART
WD40	205	246	8.25e0	SMART
WD40	252	293	2.39e0	SMART
WD40	296	336	1.44e-5	SMART
WD40	344	383	1.26e-5	SMART
WD40	424	469	1.72e0	SMART
WD40	472	511	1.49e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117701
AA Change: F147L

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113620
Gene: ENSMUSG00000022214
AA Change: F147L

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
WD40	122	160	8.91e-1	SMART
WD40	165	206	8.25e0	SMART
WD40	212	253	2.39e0	SMART
WD40	256	296	1.44e-5	SMART
WD40	304	343	1.26e-5	SMART
WD40	384	429	1.72e0	SMART
WD40	432	471	1.49e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121622
AA Change: F187L

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113202
Gene: ENSMUSG00000022214
AA Change: F187L

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
WD40	162	200	8.91e-1	SMART
WD40	205	246	8.25e0	SMART
WD40	252	293	2.39e0	SMART
WD40	296	336	1.44e-5	SMART
WD40	344	383	1.26e-5	SMART
WD40	424	469	1.72e0	SMART
WD40	472	511	1.49e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127991

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128490
AA Change: F187L

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114211
Gene: ENSMUSG00000022214
AA Change: F187L

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000150481
AA Change: F187L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119001
Gene: ENSMUSG00000022214
AA Change: F187L

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
WD40	162	200	8.91e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153638

Predicted Effect

probably benign
Transcript: ENSMUST00000152681

SMART Domains

Protein: ENSMUSP00000120296
Gene: ENSMUSG00000022214

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143375

SMART Domains

Protein: ENSMUSP00000121570
Gene: ENSMUSG00000022214

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150019

SMART Domains

Protein: ENSMUSP00000117617
Gene: ENSMUSG00000022214

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143431

SMART Domains

Protein: ENSMUSP00000118762
Gene: ENSMUSG00000022214

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147981

SMART Domains

Protein: ENSMUSP00000123453
Gene: ENSMUSG00000022214

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133256

SMART Domains

Protein: ENSMUSP00000118404
Gene: ENSMUSG00000022214

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,166,168 (GRCm39)	Y69H	probably damaging	Het
Afap1l2	A	T	19: 56,908,995 (GRCm39)	S310R	probably damaging	Het
Aldh7a1	A	G	18: 56,675,288 (GRCm39)		probably benign	Het
Anxa8	T	A	14: 33,818,481 (GRCm39)		probably null	Het
Ap1ar	T	C	3: 127,602,192 (GRCm39)	E282G	probably damaging	Het
Arl6ip6	T	G	2: 53,092,939 (GRCm39)	S155A	probably benign	Het
Armc9	T	C	1: 86,092,557 (GRCm39)	F107S	probably damaging	Het
Ash1l	C	A	3: 88,891,488 (GRCm39)	D1122E	probably benign	Het
Atp2b4	T	A	1: 133,656,512 (GRCm39)	I713F	probably damaging	Het
BC005624	A	C	2: 30,863,317 (GRCm39)		probably benign	Het
Calcrl	T	C	2: 84,169,586 (GRCm39)	D365G	probably benign	Het
Ccdc110	A	G	8: 46,396,221 (GRCm39)	N704S	probably benign	Het
Ccr10	G	T	11: 101,065,492 (GRCm39)	L13I	probably benign	Het
Cfap52	A	G	11: 67,844,341 (GRCm39)	Y125H	probably damaging	Het
Cnr2	C	A	4: 135,644,936 (GRCm39)	T338K	possibly damaging	Het
Cntn2	T	A	1: 132,444,308 (GRCm39)	D935V	probably damaging	Het
Cog7	T	C	7: 121,543,067 (GRCm39)	K448R	possibly damaging	Het
Csnk1g2	G	A	10: 80,474,369 (GRCm39)	D197N	probably damaging	Het
Cyp2e1	T	A	7: 140,343,824 (GRCm39)	S21T	probably damaging	Het
Dmd	T	A	X: 82,922,110 (GRCm39)	F1460Y	probably benign	Het
Dnah11	G	A	12: 117,874,775 (GRCm39)	A4030V	probably damaging	Het
Dnah7a	A	G	1: 53,561,519 (GRCm39)	V2046A	possibly damaging	Het
Dnajc6	T	C	4: 101,496,497 (GRCm39)	I820T	probably damaging	Het
Dsel	T	C	1: 111,788,462 (GRCm39)	D691G	possibly damaging	Het
Fbp1	T	A	13: 63,016,894 (GRCm39)	M203L	probably benign	Het
Fndc1	T	C	17: 7,992,470 (GRCm39)	T409A	unknown	Het
Golgb1	T	G	16: 36,746,211 (GRCm39)	L2930R	probably damaging	Het
Htr2a	A	G	14: 74,882,583 (GRCm39)	T190A	probably benign	Het
Klra4	C	T	6: 130,021,033 (GRCm39)	C254Y	probably damaging	Het
Large1	A	T	8: 73,858,667 (GRCm39)	V67E	probably benign	Het
Lins1	T	C	7: 66,363,931 (GRCm39)	S609P	probably damaging	Het
Magi3	T	C	3: 104,002,473 (GRCm39)	E156G	probably damaging	Het
Mdh1b	A	G	1: 63,754,523 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,748,037 (GRCm39)	D276G	probably benign	Het
Myh9	T	A	15: 77,680,220 (GRCm39)	K185*	probably null	Het
Myof	T	C	19: 37,909,227 (GRCm39)		probably null	Het
Naip2	T	G	13: 100,298,020 (GRCm39)	Y672S	possibly damaging	Het
Nbeal1	A	G	1: 60,326,603 (GRCm39)		probably benign	Het
Nbeal2	T	A	9: 110,457,344 (GRCm39)	H2273L	probably damaging	Het
Neb	T	C	2: 52,090,733 (GRCm39)	K1346E	possibly damaging	Het
Nfatc2	T	C	2: 168,346,370 (GRCm39)	D908G	probably damaging	Het
Nlgn2	T	C	11: 69,718,080 (GRCm39)	N375S	probably benign	Het
Nova1	G	T	12: 46,767,505 (GRCm39)	Q139K	unknown	Het
Opa3	A	T	7: 18,962,507 (GRCm39)	Q47L	probably damaging	Het
Or10g7	T	A	9: 39,905,109 (GRCm39)	M1K	probably null	Het
Or2t47	A	G	11: 58,442,987 (GRCm39)	L26P	probably damaging	Het
Or6c205	T	A	10: 129,086,794 (GRCm39)	Y130*	probably null	Het
Pacs1	A	T	19: 5,185,138 (GRCm39)		probably benign	Het
Pappa2	T	A	1: 158,609,829 (GRCm39)	H1544L	probably damaging	Het
Pax8	A	G	2: 24,334,627 (GRCm39)	S48P	probably damaging	Het
Pdilt	T	C	7: 119,097,272 (GRCm39)	N70S	possibly damaging	Het
Poldip3	T	C	15: 83,013,469 (GRCm39)		probably benign	Het
Ppp6r1	T	A	7: 4,645,211 (GRCm39)	I80F	probably damaging	Het
Pycr2	T	A	1: 180,732,304 (GRCm39)		probably null	Het
Rapgef2	C	T	3: 78,976,187 (GRCm39)		probably benign	Het
Rbm44	T	A	1: 91,080,902 (GRCm39)	D363E	probably damaging	Het
Rnf213	A	T	11: 119,318,336 (GRCm39)	I1046F	probably damaging	Het
Ryr2	A	G	13: 11,606,155 (GRCm39)	S4476P	probably damaging	Het
Scara5	G	A	14: 66,000,278 (GRCm39)	D483N	unknown	Het
Scmh1	T	A	4: 120,325,586 (GRCm39)	F101Y	probably damaging	Het
Sgo2a	T	A	1: 58,055,511 (GRCm39)	V565E	probably damaging	Het
Simc1	T	C	13: 54,673,071 (GRCm39)	M473T	probably benign	Het
Skint6	T	A	4: 113,095,381 (GRCm39)	R93*	probably null	Het
Skint7	T	C	4: 111,839,375 (GRCm39)	V223A	possibly damaging	Het
Slc25a2	T	C	18: 37,770,939 (GRCm39)	I197V	probably benign	Het
Slit2	A	G	5: 48,374,816 (GRCm39)	T361A	probably benign	Het
Sugp1	G	A	8: 70,522,776 (GRCm39)	G492D	probably damaging	Het
Svep1	C	T	4: 58,145,301 (GRCm39)	G388D	probably damaging	Het
Tbpl2	G	T	2: 23,983,888 (GRCm39)	A183E	probably damaging	Het
Tcerg1l	G	T	7: 137,831,619 (GRCm39)	P453T	probably damaging	Het
Tdpoz2	T	C	3: 93,559,046 (GRCm39)	T309A	probably benign	Het
Thbs4	T	A	13: 92,927,306 (GRCm39)	Y61F	probably benign	Het
Tmem117	C	A	15: 94,992,656 (GRCm39)	P439T	probably damaging	Het
Tmem151a	A	G	19: 5,132,993 (GRCm39)	V71A	probably benign	Het
Tmem268	G	T	4: 63,486,691 (GRCm39)		probably benign	Het
Tmem43	T	A	6: 91,454,356 (GRCm39)	Y48N	possibly damaging	Het
Tmigd1	T	C	11: 76,804,812 (GRCm39)	V217A	probably benign	Het
Tmprss11g	A	T	5: 86,645,188 (GRCm39)		probably benign	Het
Tsn	T	C	1: 118,237,551 (GRCm39)	I38V	probably benign	Het
Ttc41	A	T	10: 86,569,518 (GRCm39)	Y632F	probably damaging	Het
Vmn2r117	C	T	17: 23,694,552 (GRCm39)		probably benign	Het
Vmn2r12	A	T	5: 109,238,351 (GRCm39)	I463N	probably benign	Het
Wdsub1	T	A	2: 59,683,176 (GRCm39)	N466I	probably damaging	Het
Zdhhc21	A	T	4: 82,762,427 (GRCm39)	I56N	probably benign	Het
Zfand4	A	G	6: 116,250,617 (GRCm39)	T16A	possibly damaging	Het
Zmym4	T	C	4: 126,842,268 (GRCm39)	E15G	probably damaging	Het

Other mutations in Dcaf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Dcaf11	APN	14	55,798,742 (GRCm39)	utr 5 prime	probably benign
IGL02158:Dcaf11	APN	14	55,801,980 (GRCm39)	splice site	probably null
IGL02487:Dcaf11	APN	14	55,806,571 (GRCm39)	missense	probably benign	0.06
IGL03263:Dcaf11	APN	14	55,802,949 (GRCm39)	missense	probably damaging	0.99
IGL03392:Dcaf11	APN	14	55,798,878 (GRCm39)	missense	probably damaging	1.00
R0057:Dcaf11	UTSW	14	55,806,767 (GRCm39)	missense	probably benign	0.06
R0057:Dcaf11	UTSW	14	55,806,767 (GRCm39)	missense	probably benign	0.06
R0084:Dcaf11	UTSW	14	55,806,700 (GRCm39)	missense	probably benign	0.00
R0110:Dcaf11	UTSW	14	55,806,537 (GRCm39)	missense	probably damaging	1.00
R0450:Dcaf11	UTSW	14	55,806,537 (GRCm39)	missense	probably damaging	1.00
R0510:Dcaf11	UTSW	14	55,806,537 (GRCm39)	missense	probably damaging	1.00
R0662:Dcaf11	UTSW	14	55,802,964 (GRCm39)	missense	possibly damaging	0.93
R1087:Dcaf11	UTSW	14	55,806,581 (GRCm39)	missense	probably damaging	0.96
R2281:Dcaf11	UTSW	14	55,806,828 (GRCm39)	makesense	probably null
R2698:Dcaf11	UTSW	14	55,804,342 (GRCm39)	missense	probably damaging	1.00
R2866:Dcaf11	UTSW	14	55,803,202 (GRCm39)	missense	possibly damaging	0.92
R4472:Dcaf11	UTSW	14	55,803,063 (GRCm39)	intron	probably benign
R5288:Dcaf11	UTSW	14	55,800,833 (GRCm39)	missense	probably damaging	1.00
R5682:Dcaf11	UTSW	14	55,800,883 (GRCm39)	missense	probably damaging	1.00
R5706:Dcaf11	UTSW	14	55,803,152 (GRCm39)	missense	probably damaging	1.00
R7133:Dcaf11	UTSW	14	55,806,383 (GRCm39)	splice site	probably null
R7468:Dcaf11	UTSW	14	55,802,966 (GRCm39)	missense	possibly damaging	0.70
R7673:Dcaf11	UTSW	14	55,806,762 (GRCm39)	missense	probably benign	0.00
R8755:Dcaf11	UTSW	14	55,798,023 (GRCm39)	start gained	probably benign
R8861:Dcaf11	UTSW	14	55,801,955 (GRCm39)	nonsense	probably null
R8959:Dcaf11	UTSW	14	55,806,761 (GRCm39)	missense	probably benign	0.00
R9038:Dcaf11	UTSW	14	55,803,114 (GRCm39)	missense	probably damaging	1.00
R9672:Dcaf11	UTSW	14	55,806,484 (GRCm39)	nonsense	probably null
R9733:Dcaf11	UTSW	14	55,803,170 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18