Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01455:Dcaf15'

84757

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 #

IGL01455

Quality Score

Status

Chromosome

Chromosomal Location

84823701-84831397 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84825219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 434 (T434A)

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: T434A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038568
Gene: ENSMUSG00000037103
AA Change: T434A

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: T434A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,214,131 (GRCm39)	D87G	possibly damaging	Het
Adgra3	G	A	5: 50,144,899 (GRCm39)	R565*	probably null	Het
Akap12	C	T	10: 4,306,886 (GRCm39)	T1232I	probably damaging	Het
Arb2a	A	T	13: 78,050,766 (GRCm39)		probably benign	Het
B3gnt2	A	T	11: 22,787,042 (GRCm39)	W49R	probably damaging	Het
Ccdc112	T	A	18: 46,426,511 (GRCm39)	K137N	possibly damaging	Het
Ccdc117	G	T	11: 5,484,297 (GRCm39)	T181K	possibly damaging	Het
Cfh	T	C	1: 140,033,277 (GRCm39)	K756E	possibly damaging	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cyp2c29	T	A	19: 39,317,561 (GRCm39)	I349K	possibly damaging	Het
Entpd5	T	C	12: 84,441,451 (GRCm39)	I106V	probably benign	Het
Eps8l1	T	A	7: 4,481,922 (GRCm39)		probably benign	Het
Erbin	G	T	13: 103,995,895 (GRCm39)	P269Q	probably damaging	Het
Fbxw22	C	T	9: 109,214,062 (GRCm39)	M251I	probably benign	Het
Fgd4	T	A	16: 16,308,354 (GRCm39)	T9S	probably benign	Het
Haus8	T	C	8: 71,705,875 (GRCm39)	I270V	probably benign	Het
Herc4	T	A	10: 63,121,922 (GRCm39)		probably null	Het
Hspg2	G	A	4: 137,281,128 (GRCm39)	V3367M	probably damaging	Het
Htr1f	A	T	16: 64,746,385 (GRCm39)	F302L	probably damaging	Het
Inpp5f	T	C	7: 128,279,773 (GRCm39)	C458R	probably damaging	Het
Klhl18	T	C	9: 110,261,511 (GRCm39)	E411G	probably damaging	Het
Krt20	A	T	11: 99,322,769 (GRCm39)	F289I	probably benign	Het
Mical1	T	C	10: 41,355,065 (GRCm39)		probably null	Het
Nav1	T	C	1: 135,397,373 (GRCm39)	D932G	probably benign	Het
Nme4	A	T	17: 26,311,036 (GRCm39)	D176E	probably benign	Het
Nox4	C	T	7: 87,025,424 (GRCm39)	S517L	possibly damaging	Het
Or1j13	A	T	2: 36,369,368 (GRCm39)	L258H	probably damaging	Het
Pate8	T	A	9: 36,492,659 (GRCm39)	H82L	probably benign	Het
Pip5k1a	T	C	3: 94,975,471 (GRCm39)	D333G	probably benign	Het
Polb	T	C	8: 23,143,088 (GRCm39)	Y36C	probably damaging	Het
Spta1	T	C	1: 174,030,877 (GRCm39)	I953T	possibly damaging	Het
Sptb	A	T	12: 76,659,686 (GRCm39)	D1071E	probably damaging	Het
Stxbp3-ps	T	C	19: 9,535,371 (GRCm39)		noncoding transcript	Het
Tmcc3	A	T	10: 94,422,617 (GRCm39)	I356F	probably damaging	Het
Tmem262	G	T	19: 6,130,189 (GRCm39)	R6L	probably damaging	Het
Tnks	C	A	8: 35,408,054 (GRCm39)	V225L	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
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

2013-11-11