Mutagenetix > Incidental Mutation

Incidental Mutation 'R3913:Dcaf15'

309506

Institutional Source

Beutler Lab

Gene Symbol

Dcaf15

Ensembl Gene

ENSMUSG00000037103

Gene Name

DDB1 and CUL4 associated factor 15

Synonyms

MMRRC Submission

040911-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.858) question?

Stock #

R3913 (G1)

Quality Score

172

Status

Validated

Chromosome

Chromosomal Location

84823701-84831397 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84825794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 271 (Y271C)

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: Y271C

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

SMART Domains

Protein: ENSMUSP00000038568
Gene: ENSMUSG00000037103
AA Change: Y271C

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: Y271C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210625

Predicted Effect

probably benign
Transcript: ENSMUST00000211046

Meta Mutation Damage Score

0.6035

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh7	T	A	3: 137,927,541 (GRCm39)	V29E	probably damaging	Het
Adra1d	T	A	2: 131,404,075 (GRCm39)	D5V	probably damaging	Het
Arid1b	A	G	17: 5,392,532 (GRCm39)	I2021V	possibly damaging	Het
Birc6	A	T	17: 74,880,608 (GRCm39)	R462*	probably null	Het
Cchcr1	T	C	17: 35,836,233 (GRCm39)	V341A	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Crybg1	T	C	10: 43,874,759 (GRCm39)	D783G	possibly damaging	Het
Dcun1d2	A	C	8: 13,331,082 (GRCm39)	M16R	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Dnttip2	T	C	3: 122,069,040 (GRCm39)	V85A	possibly damaging	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
Exoc7	T	C	11: 116,197,731 (GRCm39)	D27G	probably benign	Het
Gdpd5	A	G	7: 99,087,546 (GRCm39)	D70G	probably null	Het
Glyr1	A	G	16: 4,849,777 (GRCm39)	F199L	probably damaging	Het
Golga4	T	A	9: 118,368,039 (GRCm39)	M414K	probably damaging	Het
Gpr132	C	A	12: 112,816,640 (GRCm39)	W62L	probably benign	Het
Gpr179	A	T	11: 97,225,591 (GRCm39)	V2188E	probably benign	Het
Ilf3	C	T	9: 21,309,422 (GRCm39)	A526V	possibly damaging	Het
Ints10	T	A	8: 69,266,272 (GRCm39)	S478T	probably damaging	Het
Kcnab2	A	G	4: 152,479,689 (GRCm39)	V187A	probably damaging	Het
Kcnj15	C	T	16: 95,097,329 (GRCm39)	T317I	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhl30	T	C	1: 91,287,166 (GRCm39)	V484A	possibly damaging	Het
Krt90	G	A	15: 101,471,218 (GRCm39)	R15W	probably damaging	Het
Liph	G	T	16: 21,781,009 (GRCm39)		probably benign	Het
Lrrc7	G	A	3: 157,997,589 (GRCm39)	L158F	probably damaging	Het
Maml1	T	C	11: 50,154,259 (GRCm39)	T602A	probably benign	Het
Mast4	A	G	13: 102,895,177 (GRCm39)	L782P	probably damaging	Het
Mei4	A	G	9: 81,772,316 (GRCm39)	K43R	probably benign	Het
Mettl4	A	G	17: 95,047,960 (GRCm39)	V227A	probably benign	Het
Mst1r	G	A	9: 107,791,945 (GRCm39)	R827Q	probably benign	Het
Olfm1	A	G	2: 28,098,186 (GRCm39)	T83A	possibly damaging	Het
Or1e30	G	T	11: 73,678,522 (GRCm39)	G253W	probably damaging	Het
Or5m10b	T	C	2: 85,699,115 (GRCm39)	Y60H	probably damaging	Het
Parp4	A	G	14: 56,857,975 (GRCm39)	E869G	probably damaging	Het
Pate4	C	A	9: 35,523,140 (GRCm39)	M1I	probably null	Het
Patj	A	G	4: 98,457,338 (GRCm39)	D1280G	probably damaging	Het
Ppargc1b	T	C	18: 61,444,447 (GRCm39)	S255G	probably damaging	Het
Rev3l	A	G	10: 39,696,552 (GRCm39)	I521M	probably damaging	Het
Rlim	T	C	X: 103,006,267 (GRCm39)	T545A	probably benign	Het
Robo2	A	T	16: 73,831,893 (GRCm39)	D262E	probably damaging	Het
Sec14l5	A	G	16: 4,965,720 (GRCm39)		probably benign	Het
Sema4b	A	G	7: 79,870,222 (GRCm39)	S467G	probably benign	Het
Setd2	C	T	9: 110,380,114 (GRCm39)	R1310C	probably damaging	Het
Sh3d19	T	C	3: 85,992,083 (GRCm39)	I37T	probably damaging	Het
Slc23a3	T	A	1: 75,105,566 (GRCm39)	I422F	probably benign	Het
Snap91	T	C	9: 86,674,610 (GRCm39)	T534A	possibly damaging	Het
Son	A	T	16: 91,456,999 (GRCm39)		probably benign	Het
Tnks	A	T	8: 35,340,228 (GRCm39)	S463R	probably damaging	Het
Tubb3	A	G	8: 124,147,748 (GRCm39)	H227R	possibly damaging	Het
Tyw1	T	A	5: 130,287,876 (GRCm39)	V36D	probably damaging	Het
Vwa5a	T	C	9: 38,646,039 (GRCm39)	I469T	probably damaging	Het
Zdhhc8	A	G	16: 18,044,587 (GRCm39)	L311P	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGTTTCCTCCAAGGGACTACC -3'
(R):5'- CTCGTCTTTGTTCAGACTATATGTG -3'

Sequencing Primer
(F):5'- CTCTTTAGCCCTGCGGAAGATG -3'
(R):5'- CAGACTATATGTGCTTTCTGAACTC -3'

Posted On

2015-04-17