Mutagenetix > Incidental Mutation

Incidental Mutation 'R4582:Dcaf15'

343736

Institutional Source

Beutler Lab

Gene Symbol

Dcaf15

Ensembl Gene

ENSMUSG00000037103

Gene Name

DDB1 and CUL4 associated factor 15

Synonyms

MMRRC Submission

041803-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.858) question?

Stock #

R4582 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84823701-84831397 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84824598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 533 (V533A)

Ref Sequence

ENSEMBL: ENSMUSP00000147690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005600] [ENSMUST00000041367] [ENSMUST00000210279] [ENSMUST00000210625] [ENSMUST00000211046]

AlphaFold

Q6PFH3

Predicted Effect

probably benign
Transcript: ENSMUST00000005600

SMART Domains

Protein: ENSMUSP00000005600
Gene: ENSMUSG00000031706

Domain	Start	End	E-Value	Type
low complexity region	11	47	N/A	INTRINSIC
low complexity region	53	67	N/A	INTRINSIC
low complexity region	73	92	N/A	INTRINSIC
Pfam:RFX1_trans_act	106	176	9.6e-9	PFAM
Pfam:RFX1_trans_act	211	366	1.8e-59	PFAM
Pfam:RFX_DNA_binding	420	498	2.5e-35	PFAM
Blast:HisKA	705	768	3e-28	BLAST
low complexity region	908	920	N/A	INTRINSIC
low complexity region	932	948	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000041367
AA Change: V533A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038568
Gene: ENSMUSG00000037103
AA Change: V533A

Domain	Start	End	E-Value	Type
low complexity region	12	33	N/A	INTRINSIC
Pfam:DCAF15_WD40	48	259	1.1e-84	PFAM
low complexity region	275	294	N/A	INTRINSIC
low complexity region	343	359	N/A	INTRINSIC
low complexity region	374	384	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000210279
AA Change: V533A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000210625

Predicted Effect

probably benign
Transcript: ENSMUST00000211046

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	A	T	15: 41,732,681 (GRCm39)	D128E	probably benign	Het
Akap11	A	T	14: 78,749,369 (GRCm39)	V1006E	possibly damaging	Het
Ankrd7	T	A	6: 18,868,020 (GRCm39)	N95K	probably damaging	Het
Brd9	T	C	13: 74,095,852 (GRCm39)	F366L	probably benign	Het
Brinp2	A	G	1: 158,095,508 (GRCm39)	F118L	probably damaging	Het
Ccdc138	T	C	10: 58,343,465 (GRCm39)		probably null	Het
Celsr3	T	C	9: 108,722,922 (GRCm39)	F189L	probably damaging	Het
Cfap45	A	G	1: 172,357,479 (GRCm39)	T36A	probably benign	Het
Clec4a1	G	T	6: 122,909,150 (GRCm39)	V173L	possibly damaging	Het
Col6a5	G	A	9: 105,739,963 (GRCm39)	T2552I	probably benign	Het
Dhrs9	A	T	2: 69,227,997 (GRCm39)	I204F	probably damaging	Het
Dock7	A	G	4: 98,892,153 (GRCm39)	V811A	possibly damaging	Het
Eef1akmt1	T	C	14: 57,787,905 (GRCm39)	D151G	probably damaging	Het
Eif4g3	G	A	4: 137,898,556 (GRCm39)	R1109H	probably damaging	Het
Gtpbp10	T	C	5: 5,592,395 (GRCm39)	T191A	possibly damaging	Het
Hectd4	A	G	5: 121,424,482 (GRCm39)	N714S	possibly damaging	Het
Lima1	T	C	15: 99,678,873 (GRCm39)	T523A	possibly damaging	Het
Lipe	A	G	7: 25,097,127 (GRCm39)	L272P	probably benign	Het
Llgl2	A	G	11: 115,741,532 (GRCm39)	E554G	possibly damaging	Het
Lrrc66	T	C	5: 73,765,580 (GRCm39)	S488G	possibly damaging	Het
Man2a1	C	T	17: 65,059,494 (GRCm39)	A1127V	probably benign	Het
Naglu	A	T	11: 100,962,755 (GRCm39)	I187F	probably damaging	Het
Nt5c1b	T	A	12: 10,440,054 (GRCm39)	M548K	probably damaging	Het
Or10ak14	A	T	4: 118,611,090 (GRCm39)	I217N	probably damaging	Het
Or6c38	A	T	10: 128,929,027 (GRCm39)	V272E	possibly damaging	Het
Pcdha3	T	C	18: 37,080,485 (GRCm39)	V409A	probably benign	Het
Pde6b	A	T	5: 108,573,097 (GRCm39)		probably null	Het
Pkd2	A	T	5: 104,650,210 (GRCm39)	K857*	probably null	Het
Rfx4	T	A	10: 84,680,164 (GRCm39)	S114T	possibly damaging	Het
Sacs	G	A	14: 61,429,147 (GRCm39)	G402D	probably damaging	Het
Slc22a5	C	T	11: 53,782,035 (GRCm39)	E111K	probably damaging	Het
Sptbn1	G	A	11: 30,169,597 (GRCm39)	R44C	probably damaging	Het
Taf1	T	C	X: 100,637,601 (GRCm39)	V1696A	possibly damaging	Het
Tm9sf3	C	A	19: 41,244,605 (GRCm39)	G91C	probably damaging	Het
Tmie	T	G	9: 110,702,865 (GRCm39)	E32A	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tsga13	A	T	6: 30,879,298 (GRCm39)	N138K	probably benign	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Ugt1a10	A	T	1: 87,983,463 (GRCm39)	D87V	possibly damaging	Het
Vdac3-ps1	A	T	13: 18,206,177 (GRCm39)		noncoding transcript	Het
Vmn1r29	A	C	6: 58,285,017 (GRCm39)	I246L	probably damaging	Het
Zbtb16	A	G	9: 48,743,382 (GRCm39)	V310A	probably benign	Het

Other mutations in Dcaf15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Dcaf15	APN	8	84,825,026 (GRCm39)	missense	probably damaging	0.98
IGL01455:Dcaf15	APN	8	84,825,219 (GRCm39)	missense	probably benign
IGL01656:Dcaf15	APN	8	84,824,617 (GRCm39)	missense	probably benign	0.01
IGL02437:Dcaf15	APN	8	84,828,445 (GRCm39)	missense	probably damaging	1.00
IGL02718:Dcaf15	APN	8	84,825,005 (GRCm39)	missense	possibly damaging	0.52
R2072:Dcaf15	UTSW	8	84,828,370 (GRCm39)	missense	probably damaging	1.00
R2090:Dcaf15	UTSW	8	84,824,400 (GRCm39)	nonsense	probably null
R3913:Dcaf15	UTSW	8	84,825,794 (GRCm39)	missense	probably damaging	1.00
R4657:Dcaf15	UTSW	8	84,829,467 (GRCm39)	missense	probably damaging	0.99
R4714:Dcaf15	UTSW	8	84,828,845 (GRCm39)	missense	probably benign	0.21
R4734:Dcaf15	UTSW	8	84,824,357 (GRCm39)	missense	probably benign	0.00
R5898:Dcaf15	UTSW	8	84,825,081 (GRCm39)	missense	probably damaging	1.00
R6167:Dcaf15	UTSW	8	84,824,626 (GRCm39)	missense	possibly damaging	0.78
R6261:Dcaf15	UTSW	8	84,825,734 (GRCm39)	missense	probably benign
R6408:Dcaf15	UTSW	8	84,831,355 (GRCm39)	missense	probably benign	0.00
R7248:Dcaf15	UTSW	8	84,829,394 (GRCm39)	missense	possibly damaging	0.89
R7498:Dcaf15	UTSW	8	84,828,392 (GRCm39)	missense	probably damaging	1.00
R9201:Dcaf15	UTSW	8	84,828,699 (GRCm39)	missense	possibly damaging	0.75
Z1088:Dcaf15	UTSW	8	84,829,410 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCATCCTGTTCACATAGCGG -3'
(R):5'- CTCTTCTGTGCAGGGTGAAC -3'

Sequencing Primer
(F):5'- TGTTCACATAGCGGCCACTG -3'
(R):5'- CTTCTGTGCAGGGTGAACAGATAG -3'

Posted On

2015-09-24