Mutagenetix > Incidental Mutation

Incidental Mutation 'R5706:Dcaf11'

451991

Institutional Source

Beutler Lab

Gene Symbol

Dcaf11

Ensembl Gene

ENSMUSG00000022214

Gene Name

DDB1 and CUL4 associated factor 11

Synonyms

0710008A13Rik, GLO14, D14Ucla1, Wdr23

MMRRC Submission

043331-MU

Accession Numbers

Genbank: NM_133734; MGI: 90168

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5706 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55560006-55570065 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55565695 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 282 (I282T)

Ref Sequence

ENSEMBL: ENSMUSP00000113620 (fasta)

Gene Model

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

AlphaFold

Q91VU6

Predicted Effect

probably damaging
Transcript: ENSMUST00000072530
AA Change: I322T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072344
Gene: ENSMUSG00000022214
AA Change: I322T

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: I322T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113014
Gene: ENSMUSG00000022214
AA Change: I322T

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: I282T

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

SMART Domains

Protein: ENSMUSP00000113620
Gene: ENSMUSG00000022214
AA Change: I282T

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: I322T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113202
Gene: ENSMUSG00000022214
AA Change: I322T

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

probably damaging
Transcript: ENSMUST00000128490
AA Change: I322T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114211
Gene: ENSMUSG00000022214
AA Change: I322T

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135068

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: ENSMUST00000143431

SMART Domains

Protein: ENSMUSP00000118762
Gene: ENSMUSG00000022214

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151245

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: 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: 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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,054,261	M77K	probably benign	Het
Amy1	A	G	3: 113,556,120	V467A	probably damaging	Het
Atf4	T	C	15: 80,256,330	V11A	possibly damaging	Het
B4galt1	T	C	4: 40,807,268	N373D	probably damaging	Het
Bpifa3	A	G	2: 154,135,578	K112R	probably damaging	Het
Chd2	T	A	7: 73,491,357	Y596F	possibly damaging	Het
Clspn	T	C	4: 126,578,418	S962P	probably damaging	Het
Cyp2c68	T	C	19: 39,734,318	D262G	possibly damaging	Het
Dmxl1	T	C	18: 49,957,395		probably null	Het
Dnah11	T	G	12: 118,023,935	K2411Q	probably damaging	Het
Elf3	A	G	1: 135,256,482	V196A	probably benign	Het
Fhad1	T	G	4: 141,954,116	T538P	probably damaging	Het
Fkbp10	A	G	11: 100,421,023	D174G	probably damaging	Het
Gas6	A	G	8: 13,477,098	S217P	probably damaging	Het
Gm4778	T	A	3: 94,266,652	H322Q	possibly damaging	Het
Heatr5b	C	T	17: 78,766,875		probably null	Het
Iqgap3	A	G	3: 88,115,908	E502G	probably benign	Het
Klc1	T	C	12: 111,795,627	V577A	possibly damaging	Het
Lck	T	C	4: 129,551,638		probably null	Het
Mc3r	C	A	2: 172,249,690	Y277*	probably null	Het
Mlxipl	T	C	5: 135,133,604	V640A	probably benign	Het
Mrc2	A	T	11: 105,332,343	N471Y	probably damaging	Het
Ncan	T	A	8: 70,102,017	H1050L	probably damaging	Het
Nrl	C	A	14: 55,522,432	V13F	probably damaging	Het
Obscn	T	A	11: 59,076,256	Y546F	probably damaging	Het
Olfr214	A	G	6: 116,557,113	I229M	probably damaging	Het
Olfr654	T	G	7: 104,587,890	S46A	probably benign	Het
Olfr799	A	G	10: 129,648,091		probably null	Het
Pde3b	G	A	7: 114,521,692	G684D	probably damaging	Het
Prkaa1	C	T	15: 5,174,342	T244I	probably benign	Het
Scfd2	A	T	5: 74,206,398		probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Smg1	A	T	7: 118,145,590	V3113D	possibly damaging	Het
Sorbs1	T	C	19: 40,376,881	T153A	probably benign	Het
Spag16	A	G	1: 69,870,289	T182A	probably benign	Het
Svs2	T	C	2: 164,237,669	K106R	possibly damaging	Het
Tenm1	A	G	X: 43,074,695	V107A	possibly damaging	Het
Topaz1	A	T	9: 122,799,485	I1546F	possibly damaging	Het
Tubgcp2	C	A	7: 140,032,225	E78*	probably null	Het
Vars	A	G	17: 35,005,481		probably null	Het
Vmn2r109	A	T	17: 20,554,305	W263R	probably benign	Het

Other mutations in Dcaf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Dcaf11	APN	14	55561285	utr 5 prime	probably benign
IGL02158:Dcaf11	APN	14	55564523	splice site	probably null
IGL02487:Dcaf11	APN	14	55569114	missense	probably benign	0.06
IGL02887:Dcaf11	APN	14	55564135	missense	probably damaging	1.00
IGL03263:Dcaf11	APN	14	55565492	missense	probably damaging	0.99
IGL03392:Dcaf11	APN	14	55561421	missense	probably damaging	1.00
R0057:Dcaf11	UTSW	14	55569310	missense	probably benign	0.06
R0057:Dcaf11	UTSW	14	55569310	missense	probably benign	0.06
R0084:Dcaf11	UTSW	14	55569243	missense	probably benign	0.00
R0110:Dcaf11	UTSW	14	55569080	missense	probably damaging	1.00
R0450:Dcaf11	UTSW	14	55569080	missense	probably damaging	1.00
R0510:Dcaf11	UTSW	14	55569080	missense	probably damaging	1.00
R0662:Dcaf11	UTSW	14	55565507	missense	possibly damaging	0.93
R1087:Dcaf11	UTSW	14	55569124	missense	probably damaging	0.96
R2281:Dcaf11	UTSW	14	55569371	makesense	probably null
R2698:Dcaf11	UTSW	14	55566885	missense	probably damaging	1.00
R2866:Dcaf11	UTSW	14	55565745	missense	possibly damaging	0.92
R4472:Dcaf11	UTSW	14	55565606	intron	probably benign
R5288:Dcaf11	UTSW	14	55563376	missense	probably damaging	1.00
R5682:Dcaf11	UTSW	14	55563426	missense	probably damaging	1.00
R7133:Dcaf11	UTSW	14	55568926	splice site	probably null
R7468:Dcaf11	UTSW	14	55565509	missense	possibly damaging	0.70
R7673:Dcaf11	UTSW	14	55569305	missense	probably benign	0.00
R8755:Dcaf11	UTSW	14	55560566	start gained	probably benign
R8861:Dcaf11	UTSW	14	55564498	nonsense	probably null
R8959:Dcaf11	UTSW	14	55569304	missense	probably benign	0.00
R9038:Dcaf11	UTSW	14	55565657	missense	probably damaging	1.00
R9672:Dcaf11	UTSW	14	55569027	nonsense	probably null
R9733:Dcaf11	UTSW	14	55565713	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGCGTACTCTTCAGGTATTG -3'
(R):5'- GACAGCCAGAACCTTGAGAG -3'

Sequencing Primer
(F):5'- GTTTGTGAGACAAGAGCCTTCTCC -3'
(R):5'- ATAAAGGTGATGCCATCCTAGTGCC -3'

Posted On

2017-01-03