Mutagenetix > Incidental Mutation

Incidental Mutation 'R0110:Dcaf11'

20415

Institutional Source

Beutler Lab

Gene Symbol

Dcaf11

Ensembl Gene

ENSMUSG00000022214

Gene Name

DDB1 and CUL4 associated factor 11

Synonyms

0710008A13Rik, D14Ucla1, Wdr23, GLO14

MMRRC Submission

038396-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0110 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

55797463-55807522 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55806537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 446 (V446A)

Ref Sequence

ENSEMBL: ENSMUSP00000113620 (fasta)

Gene Model

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

AlphaFold

Q91VU6

Predicted Effect

probably damaging
Transcript: ENSMUST00000072530
AA Change: V486A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072344
Gene: ENSMUSG00000022214
AA Change: V486A

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

probably damaging
Transcript: ENSMUST00000117236
AA Change: V486A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113014
Gene: ENSMUSG00000022214
AA Change: V486A

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

probably damaging
Transcript: ENSMUST00000117701
AA Change: V446A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113620
Gene: ENSMUSG00000022214
AA Change: V446A

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

probably damaging
Transcript: ENSMUST00000121622
AA Change: V486A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113202
Gene: ENSMUSG00000022214
AA Change: V486A

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

probably damaging
Transcript: ENSMUST00000128490
AA Change: V486A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114211
Gene: ENSMUSG00000022214
AA Change: V486A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155029

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: ENSMUST00000150481

SMART Domains

Protein: ENSMUSP00000119001
Gene: ENSMUSG00000022214

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

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: ENSMUST00000152681

SMART Domains

Protein: ENSMUSP00000120296
Gene: ENSMUSG00000022214

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

Meta Mutation Damage Score

0.9018

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.0%

Validation Efficiency

98% (105/107)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 61,001,320 (GRCm39)		probably benign	Het
Abcg3	A	G	5: 105,125,482 (GRCm39)	I67T	probably damaging	Het
Adam10	T	A	9: 70,655,530 (GRCm39)	W333R	probably damaging	Het
Ahnak	C	T	19: 8,995,596 (GRCm39)	R5627*	probably null	Het
AI606181	A	C	19: 41,582,170 (GRCm39)	K113N	unknown	Het
Alms1	A	T	6: 85,597,351 (GRCm39)	R1195*	probably null	Het
Ankrd11	T	C	8: 123,618,914 (GRCm39)	D1646G	possibly damaging	Het
Ap2m1	T	A	16: 20,360,990 (GRCm39)	I334N	possibly damaging	Het
Arpc1b	T	A	5: 145,064,525 (GRCm39)	W361R	probably damaging	Het
Baiap2l1	T	C	5: 144,212,701 (GRCm39)	Y438C	probably damaging	Het
Brd8dc	A	T	18: 34,729,204 (GRCm39)	D42E	probably damaging	Het
Ccdc110	T	A	8: 46,388,194 (GRCm39)	N50K	probably benign	Het
Ccdc168	C	A	1: 44,098,384 (GRCm39)	V905F	probably benign	Het
Cdhr1	T	C	14: 36,802,633 (GRCm39)	Y610C	probably damaging	Het
Celsr3	G	A	9: 108,704,204 (GRCm39)	C229Y	possibly damaging	Het
Clca4b	A	T	3: 144,619,112 (GRCm39)	Y676N	probably damaging	Het
Cntln	C	T	4: 85,014,994 (GRCm39)	T1095I	probably damaging	Het
Cog2	T	C	8: 125,255,797 (GRCm39)		probably null	Het
Col11a1	A	T	3: 113,899,105 (GRCm39)		probably benign	Het
Cpe	T	A	8: 65,064,501 (GRCm39)	I233F	probably damaging	Het
Defa34	A	G	8: 22,155,988 (GRCm39)		probably null	Het
Dnah12	A	G	14: 26,520,856 (GRCm39)	R1892G	probably damaging	Het
Dock4	A	G	12: 40,671,311 (GRCm39)		probably benign	Het
Dync1h1	C	A	12: 110,606,378 (GRCm39)	Q2483K	probably benign	Het
Enpp3	A	T	10: 24,652,679 (GRCm39)	D759E	probably damaging	Het
Epyc	A	G	10: 97,485,625 (GRCm39)	T22A	probably benign	Het
Fam227b	T	A	2: 125,942,841 (GRCm39)	S319C	probably damaging	Het
Fam83a	C	A	15: 57,873,322 (GRCm39)	Q384K	probably benign	Het
Fam83b	G	T	9: 76,400,108 (GRCm39)	L332I	possibly damaging	Het
Gal3st2c	C	T	1: 93,937,219 (GRCm39)	P388L	probably benign	Het
Ggn	C	T	7: 28,870,721 (GRCm39)	P47S	probably damaging	Het
Gli3	T	G	13: 15,899,370 (GRCm39)	L919R	probably damaging	Het
Gm5134	C	A	10: 75,810,079 (GRCm39)	T120N	probably benign	Het
Gmip	C	T	8: 70,268,259 (GRCm39)		probably benign	Het
Gpr39	C	T	1: 125,605,237 (GRCm39)	T55M	probably damaging	Het
Grk4	A	G	5: 34,873,557 (GRCm39)	T208A	probably damaging	Het
Gsdme	C	A	6: 50,223,107 (GRCm39)		probably benign	Het
Gucy2e	T	C	11: 69,126,402 (GRCm39)	D326G	probably benign	Het
Hadhb	T	C	5: 30,374,483 (GRCm39)		probably benign	Het
Hectd4	T	A	5: 121,419,959 (GRCm39)	Y635N	possibly damaging	Het
Hectd4	G	A	5: 121,443,736 (GRCm39)	E1319K	possibly damaging	Het
Ikbkb	A	T	8: 23,161,651 (GRCm39)	C412*	probably null	Het
Itpa	A	T	2: 130,521,338 (GRCm39)		probably benign	Het
Klhl10	A	G	11: 100,347,758 (GRCm39)	T605A	probably benign	Het
Krt74	T	C	15: 101,671,751 (GRCm39)		noncoding transcript	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lap3	T	C	5: 45,652,632 (GRCm39)		probably benign	Het
Lrrc10	T	A	10: 116,881,695 (GRCm39)	L123Q	probably damaging	Het
Map3k6	T	C	4: 132,971,105 (GRCm39)	L273P	probably damaging	Het
Mbl1	A	G	14: 40,880,706 (GRCm39)	N198S	probably damaging	Het
Mcf2l	A	G	8: 13,047,337 (GRCm39)	D233G	probably damaging	Het
Mdga2	T	C	12: 66,517,700 (GRCm39)	K45E	possibly damaging	Het
Mdn1	A	G	4: 32,738,619 (GRCm39)	N3524S	probably benign	Het
Mrc1	T	A	2: 14,243,353 (GRCm39)		probably benign	Het
Msto1	A	G	3: 88,818,848 (GRCm39)	L269P	probably benign	Het
Mtcl1	C	T	17: 66,665,109 (GRCm39)	E1149K	possibly damaging	Het
Naca	C	T	10: 127,880,659 (GRCm39)	A1897V	probably benign	Het
Ncapg	T	C	5: 45,850,489 (GRCm39)		probably benign	Het
Neb	A	T	2: 52,180,755 (GRCm39)		probably benign	Het
Or5p5	T	C	7: 107,413,895 (GRCm39)	Y35H	probably damaging	Het
Or8b12i	T	C	9: 20,082,561 (GRCm39)	Y102C	probably benign	Het
Or8g27	G	A	9: 39,129,024 (GRCm39)	V124I	possibly damaging	Het
Parp2	T	A	14: 51,057,130 (GRCm39)	Y361N	probably damaging	Het
Parp3	A	G	9: 106,348,995 (GRCm39)	F466L	possibly damaging	Het
Pcdh15	A	T	10: 74,126,808 (GRCm39)	N296Y	probably damaging	Het
Pcf11	G	A	7: 92,307,039 (GRCm39)	P1043L	probably damaging	Het
Pdzrn3	A	T	6: 101,128,014 (GRCm39)	I884N	probably damaging	Het
Phf24	G	T	4: 42,933,761 (GRCm39)	V48L	possibly damaging	Het
Pla2g4a	T	A	1: 149,716,398 (GRCm39)	M688L	possibly damaging	Het
Plcl2	T	C	17: 50,915,010 (GRCm39)	L673P	probably damaging	Het
Ppp1r3c	A	T	19: 36,711,617 (GRCm39)	F51Y	possibly damaging	Het
Prmt1	A	G	7: 44,628,225 (GRCm39)		probably benign	Het
Proc	G	A	18: 32,258,171 (GRCm39)	T258I	probably benign	Het
Prom2	T	G	2: 127,373,033 (GRCm39)	S679R	possibly damaging	Het
Psen2	T	C	1: 180,066,479 (GRCm39)	T153A	probably damaging	Het
Rem2	T	C	14: 54,713,754 (GRCm39)		probably benign	Het
Rin2	A	G	2: 145,702,953 (GRCm39)	K550E	probably benign	Het
Rtn4	T	A	11: 29,683,849 (GRCm39)		probably benign	Het
Semp2l1	T	A	1: 32,584,956 (GRCm39)	N318I	possibly damaging	Het
Ssh1	A	T	5: 114,084,766 (GRCm39)	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,547 (GRCm39)		probably null	Het
Stam2	A	T	2: 52,609,998 (GRCm39)		probably benign	Het
Syne1	A	G	10: 5,317,600 (GRCm39)	L498P	probably damaging	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Taf6l	G	T	19: 8,755,885 (GRCm39)	H254Q	probably benign	Het
Tas2r123	T	C	6: 132,824,295 (GRCm39)	V64A	probably benign	Het
Tnnc1	A	G	14: 30,933,365 (GRCm39)	D149G	probably damaging	Het
Tpp2	A	G	1: 44,038,853 (GRCm39)	D1133G	probably damaging	Het
Tpp2	T	A	1: 44,017,664 (GRCm39)	V756E	probably benign	Het
Traf3ip3	T	A	1: 192,860,539 (GRCm39)		probably null	Het
Tsen15	A	G	1: 152,247,548 (GRCm39)	V148A	probably damaging	Het
Ttn	T	A	2: 76,694,672 (GRCm39)		probably benign	Het
Ube2u	A	G	4: 100,343,870 (GRCm39)	I90V	probably benign	Het
Unc79	T	A	12: 103,045,329 (GRCm39)		probably null	Het
Usp47	T	C	7: 111,655,787 (GRCm39)	S155P	possibly damaging	Het
Wdr41	T	C	13: 95,154,619 (GRCm39)		probably benign	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp423	A	G	8: 88,508,887 (GRCm39)	S486P	possibly damaging	Het
Zfp628	A	T	7: 4,922,732 (GRCm39)	Q318L	probably benign	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
IGL02887:Dcaf11	APN	14	55,801,592 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCAGGCAGAGCACCATCTTC -3'
(R):5'- TTCTCACCCAGTGTGAGCAGTTCC -3'

Sequencing Primer
(F):5'- ACCATCTTCTGCGGTGGC -3'
(R):5'- ATGTCATCCTGGAAGTACTCAGC -3'

Posted On

2013-04-11