Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01402:Dcaf15'

79677

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dcaf15

Ensembl Gene

ENSMUSG00000037103

Gene Name

DDB1 and CUL4 associated factor 15

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.835) question?

Stock #

IGL01402

Quality Score

Status

Chromosome

Chromosomal Location

84823701-84831397 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84825026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 469 (C469S)

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: C469S

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038568
Gene: ENSMUSG00000037103
AA Change: C469S

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: C469S

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000210625

Predicted Effect

probably benign
Transcript: ENSMUST00000211046

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,638,653 (GRCm39)	S351P	possibly damaging	Het
Abca2	T	C	2: 25,332,015 (GRCm39)	S1376P	probably damaging	Het
Ablim3	A	G	18: 62,004,754 (GRCm39)	Y12H	probably damaging	Het
Akr1b7	A	G	6: 34,398,052 (GRCm39)	R294G	possibly damaging	Het
Aldh3b1	A	C	19: 3,971,205 (GRCm39)	V153G	probably benign	Het
Alk	A	T	17: 72,181,173 (GRCm39)	H1372Q	probably damaging	Het
Ano9	A	C	7: 140,681,955 (GRCm39)	Y731*	probably null	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Asl	T	C	5: 130,048,645 (GRCm39)	E43G	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cfap43	T	C	19: 47,784,105 (GRCm39)	D476G	probably benign	Het
Cpa1	A	G	6: 30,645,275 (GRCm39)	H417R	possibly damaging	Het
Cpeb3	T	C	19: 37,065,948 (GRCm39)	D407G	probably benign	Het
Dpy19l4	C	A	4: 11,273,006 (GRCm39)		probably null	Het
E4f1	A	T	17: 24,663,208 (GRCm39)	L699Q	probably damaging	Het
Eif4g2	A	G	7: 110,676,234 (GRCm39)	F349S	possibly damaging	Het
Ermap	T	C	4: 119,044,355 (GRCm39)	Y147C	probably damaging	Het
Frk	A	C	10: 34,423,381 (GRCm39)	E153A	probably damaging	Het
Fubp3	G	A	2: 31,494,733 (GRCm39)		probably null	Het
Gdi2	A	G	13: 3,614,611 (GRCm39)	T319A	probably benign	Het
Gjc3	A	G	5: 137,956,120 (GRCm39)	F55S	probably damaging	Het
Gm10762	C	T	2: 128,809,005 (GRCm39)		probably benign	Het
Got1	A	G	19: 43,493,048 (GRCm39)	I291T	possibly damaging	Het
Gpr179	C	A	11: 97,229,012 (GRCm39)	G1048*	probably null	Het
Hectd3	G	T	4: 116,853,262 (GRCm39)	R163L	probably damaging	Het
Hectd4	T	C	5: 121,477,480 (GRCm39)		probably benign	Het
Ifnb1	T	C	4: 88,440,480 (GRCm39)	R178G	probably benign	Het
Ino80	T	A	2: 119,287,199 (GRCm39)	D56V	possibly damaging	Het
Kctd1	T	A	18: 15,102,610 (GRCm39)	Q857L	probably damaging	Het
Kdm5a	T	A	6: 120,367,640 (GRCm39)	L445*	probably null	Het
Lins1	G	A	7: 66,363,676 (GRCm39)	V524I	probably damaging	Het
Lrp1	A	T	10: 127,430,901 (GRCm39)	Y383N	probably damaging	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Mgam	A	C	6: 40,621,879 (GRCm39)	K84Q	probably benign	Het
Mlh3	A	T	12: 85,314,703 (GRCm39)	F494L	probably benign	Het
Mpped1	T	C	15: 83,676,414 (GRCm39)	F60S	possibly damaging	Het
Myo1e	A	G	9: 70,245,048 (GRCm39)	Y382C	probably benign	Het
Ncor1	C	A	11: 62,231,300 (GRCm39)	V836F	probably damaging	Het
Nktr	G	A	9: 121,570,218 (GRCm39)		probably null	Het
Or10al4	A	G	17: 38,037,193 (GRCm39)	T93A	probably benign	Het
Or4d5	A	G	9: 40,012,558 (GRCm39)	I76T	probably benign	Het
Or5k8	G	A	16: 58,644,958 (GRCm39)	T38I	probably damaging	Het
Rnf144a	T	A	12: 26,377,300 (GRCm39)	Y93F	probably benign	Het
Rubcn	G	A	16: 32,647,666 (GRCm39)	T636M	probably damaging	Het
Scn5a	A	C	9: 119,315,536 (GRCm39)	L1724R	probably damaging	Het
Sel1l	A	G	12: 91,808,607 (GRCm39)	S45P	possibly damaging	Het
Serpina3k	A	G	12: 104,306,882 (GRCm39)	D38G	probably benign	Het
Sh3bgr	A	C	16: 96,007,690 (GRCm39)	K18N	probably damaging	Het
Slc28a2	T	G	2: 122,282,538 (GRCm39)	I287M	probably damaging	Het
St8sia6	T	C	2: 13,670,318 (GRCm39)	N214S	probably damaging	Het
Syt11	A	G	3: 88,669,523 (GRCm39)	I123T	probably benign	Het
Tcerg1l	A	T	7: 137,861,568 (GRCm39)	I387N	probably damaging	Het
Tfg	C	A	16: 56,514,856 (GRCm39)		probably benign	Het
Tgm4	A	G	9: 122,880,519 (GRCm39)	K307E	possibly damaging	Het
Tmem177	T	C	1: 119,837,791 (GRCm39)	D296G	probably damaging	Het
Tmem270	C	T	5: 134,930,763 (GRCm39)		probably benign	Het
Tnrc6b	G	T	15: 80,764,745 (GRCm39)	G749V	possibly damaging	Het
Trp63	C	A	16: 25,639,135 (GRCm39)		probably benign	Het
Ugt1a8	T	C	1: 88,015,617 (GRCm39)	L10P	probably benign	Het
Vmn2r107	A	T	17: 20,596,009 (GRCm39)	K854M	probably damaging	Het
Vmn2r45	T	C	7: 8,484,467 (GRCm39)	N446S	probably damaging	Het
Vps13c	A	T	9: 67,820,486 (GRCm39)		probably null	Het
Wdr91	G	A	6: 34,865,998 (GRCm39)	P518L	probably benign	Het
Yap1	G	A	9: 7,934,742 (GRCm39)		probably benign	Het
Zfp282	A	C	6: 47,874,770 (GRCm39)	D325A	probably damaging	Het

Other mutations in Dcaf15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4582:Dcaf15	UTSW	8	84,824,598 (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

Posted On

2013-11-05