Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01656:Dcaf15'

103023

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: 0.858) question?

Stock #

IGL01656

Quality Score

Status

Chromosome

Chromosomal Location

84823701-84831397 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84824617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 527 (I527V)

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 benign
Transcript: ENSMUST00000041367
AA Change: I527V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000038568
Gene: ENSMUSG00000037103
AA Change: I527V

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 benign
Transcript: ENSMUST00000210279
AA Change: I527V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	A	C	6: 125,030,675 (GRCm39)	E232A	possibly damaging	Het
Anapc11	T	A	11: 120,490,173 (GRCm39)	F30I	possibly damaging	Het
Ap5z1	A	G	5: 142,456,069 (GRCm39)	D318G	probably benign	Het
Cfap43	T	C	19: 47,740,339 (GRCm39)	E1278G	possibly damaging	Het
Cylc1	A	G	X: 110,167,485 (GRCm39)	T589A	probably benign	Het
Ddhd2	C	T	8: 26,217,739 (GRCm39)	V713I	probably benign	Het
Edc4	T	C	8: 106,613,009 (GRCm39)	V283A	possibly damaging	Het
Elf5	A	G	2: 103,273,206 (GRCm39)		probably benign	Het
Flnb	C	T	14: 7,902,010 (GRCm38)		probably benign	Het
Flnc	C	T	6: 29,443,507 (GRCm39)		probably benign	Het
Fstl4	T	C	11: 52,891,201 (GRCm39)	L113P	probably damaging	Het
Gemin4	C	T	11: 76,104,636 (GRCm39)	V42M	probably damaging	Het
Gm10076	A	G	14: 105,919,354 (GRCm39)		noncoding transcript	Het
Grina	A	G	15: 76,132,501 (GRCm39)	Y116C	probably damaging	Het
Hectd4	T	A	5: 121,460,763 (GRCm39)	L914H	probably damaging	Het
Il17re	T	C	6: 113,439,934 (GRCm39)		probably benign	Het
Ivl	G	A	3: 92,478,962 (GRCm39)	Q368*	probably null	Het
Kbtbd8	A	G	6: 95,095,657 (GRCm39)	H73R	probably benign	Het
Krt90	T	A	15: 101,463,878 (GRCm39)	Q392L	probably damaging	Het
Magea3	A	T	X: 153,732,137 (GRCm39)	M122K	probably damaging	Het
Mapk8ip3	T	C	17: 25,137,003 (GRCm39)	D237G	probably damaging	Het
Nln	T	C	13: 104,198,249 (GRCm39)		probably null	Het
Nlrp4d	T	C	7: 10,098,074 (GRCm39)	Y853C	noncoding transcript	Het
Nol11	T	C	11: 107,079,998 (GRCm39)	D29G	probably benign	Het
Nr3c2	C	T	8: 77,914,166 (GRCm39)	L791F	probably damaging	Het
Nup50l	A	G	6: 96,142,675 (GRCm39)	V123A	possibly damaging	Het
Olfm3	T	C	3: 114,916,282 (GRCm39)	Y385H	probably damaging	Het
Or14j5	C	T	17: 38,162,029 (GRCm39)	P182L	possibly damaging	Het
Or51a8	A	G	7: 102,550,472 (GRCm39)	I299M	possibly damaging	Het
Or5b119	G	A	19: 13,457,454 (GRCm39)	A36V	probably benign	Het
Pklr	G	T	3: 89,052,302 (GRCm39)	G505C	probably damaging	Het
Plxna2	A	G	1: 194,472,469 (GRCm39)	E1071G	possibly damaging	Het
Prkcq	G	T	2: 11,231,766 (GRCm39)	A30S	probably damaging	Het
Rilpl1	A	G	5: 124,641,712 (GRCm39)	F104L	probably damaging	Het
Rsph6a	C	T	7: 18,788,770 (GRCm39)	T34I	probably benign	Het
Sec23ip	C	T	7: 128,351,969 (GRCm39)	P12L	probably damaging	Het
Slc25a21	A	C	12: 56,785,280 (GRCm39)	V199G	probably damaging	Het
Smc1b	T	C	15: 84,998,977 (GRCm39)	E483G	probably damaging	Het
Sucnr1	T	C	3: 59,993,832 (GRCm39)	M120T	possibly damaging	Het
Tas2r116	T	C	6: 132,832,396 (GRCm39)		probably benign	Het
Tbrg4	T	A	11: 6,568,522 (GRCm39)	Q419L	possibly damaging	Het
Tc2n	A	G	12: 101,615,348 (GRCm39)		probably benign	Het
Tgfbr2	A	C	9: 115,938,737 (GRCm39)	S388R	probably damaging	Het
Vmn2r1	A	G	3: 63,989,274 (GRCm39)	E71G	probably damaging	Het
Xpc	A	T	6: 91,482,449 (GRCm39)	I176K	probably damaging	Het
Xylt1	G	T	7: 117,148,228 (GRCm39)	R264L	probably damaging	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
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

2014-01-21