Mutagenetix > Incidental Mutation

Incidental Mutation 'R2146:Dcaf8l'

233876

Institutional Source

Beutler Lab

Gene Symbol

Dcaf8l

Ensembl Gene

ENSMUSG00000035395

Gene Name

DDB1 and CUL4 associated factor 8 like

Synonyms

PC231, PC326, Pet2, Pex3

MMRRC Submission

040149-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R2146 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

89403848-89409689 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89406277 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 82 (D82G)

Ref Sequence

ENSEMBL: ENSMUSP00000109593 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113959] [ENSMUST00000113960]

AlphaFold

A2AHY8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113959
AA Change: D82G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109592
Gene: ENSMUSG00000035395
AA Change: D82G

Domain	Start	End	E-Value	Type
low complexity region	80	96	N/A	INTRINSIC
low complexity region	144	153	N/A	INTRINSIC
low complexity region	180	192	N/A	INTRINSIC
low complexity region	202	217	N/A	INTRINSIC
low complexity region	271	286	N/A	INTRINSIC
WD40	342	381	2.67e-9	SMART
WD40	384	426	8.91e-1	SMART
Blast:WD40	432	472	4e-19	BLAST
WD40	478	520	1.65e1	SMART
WD40	535	575	7.4e0	SMART
WD40	581	623	1.28e0	SMART
WD40	626	666	2.61e-3	SMART
low complexity region	729	740	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113960
AA Change: D82G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109593
Gene: ENSMUSG00000035395
AA Change: D82G

Domain	Start	End	E-Value	Type
low complexity region	80	96	N/A	INTRINSIC
low complexity region	144	153	N/A	INTRINSIC
low complexity region	180	192	N/A	INTRINSIC
low complexity region	202	217	N/A	INTRINSIC
low complexity region	271	286	N/A	INTRINSIC
WD40	342	381	2.67e-9	SMART
WD40	384	426	8.91e-1	SMART
Blast:WD40	432	472	4e-19	BLAST
WD40	478	520	1.65e1	SMART
WD40	535	575	7.4e0	SMART
WD40	581	623	1.28e0	SMART
WD40	626	666	2.61e-3	SMART
low complexity region	729	740	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,347,844 (GRCm38)		probably null	Het
9530002B09Rik	T	A	4: 122,689,405 (GRCm38)	C13*	probably null	Het
Abca12	C	A	1: 71,263,488 (GRCm38)	V2191L	probably benign	Het
Adamts18	G	C	8: 113,845,003 (GRCm38)	A116G	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754 (GRCm38)		probably null	Het
Arfgef1	C	T	1: 10,199,878 (GRCm38)	A349T	probably benign	Het
Arhgap6	A	G	X: 168,796,500 (GRCm38)	T94A	probably benign	Het
Arhgef5	T	C	6: 43,283,318 (GRCm38)	S1413P	probably damaging	Het
Atg4c	C	A	4: 99,221,226 (GRCm38)	N143K	possibly damaging	Het
C1qtnf12	A	G	4: 155,966,465 (GRCm38)	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,999 (GRCm38)		probably benign	Het
Ccdc185	G	T	1: 182,747,520 (GRCm38)	H535N	possibly damaging	Het
Ccdc57	A	G	11: 120,885,225 (GRCm38)		probably benign	Het
Cd163	A	G	6: 124,309,208 (GRCm38)	H239R	probably damaging	Het
Ceacam2	G	T	7: 25,527,943 (GRCm38)	C166*	probably null	Het
Ces5a	T	A	8: 93,534,699 (GRCm38)	E33D	probably benign	Het
Chl1	T	C	6: 103,715,401 (GRCm38)		probably null	Het
Chsy3	G	A	18: 59,176,472 (GRCm38)	V266I	probably benign	Het
Cpa5	G	T	6: 30,626,822 (GRCm38)	R251L	probably damaging	Het
Cps1	A	C	1: 67,152,379 (GRCm38)		probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236 (GRCm38)		probably null	Het
Cstf1	T	C	2: 172,375,763 (GRCm38)	Y99H	probably damaging	Het
Cyp2j11	G	A	4: 96,316,358 (GRCm38)	T317I	probably damaging	Het
Dennd3	A	T	15: 73,555,060 (GRCm38)	H762L	probably benign	Het
Dennd3	C	T	15: 73,523,496 (GRCm38)	T146M	probably damaging	Het
Dnah2	T	C	11: 69,515,761 (GRCm38)	M552V	probably benign	Het
Dnajc22	T	C	15: 99,104,383 (GRCm38)	V303A	probably benign	Het
Dtx2	T	G	5: 136,030,610 (GRCm38)	L458R	probably benign	Het
Fat3	A	T	9: 15,990,512 (GRCm38)	F3072L	probably benign	Het
Fgf5	T	C	5: 98,275,550 (GRCm38)	*265R	probably null	Het
Fndc11	A	G	2: 181,222,125 (GRCm38)	E241G	probably damaging	Het
Glb1	T	C	9: 114,450,648 (GRCm38)	Y375H	probably damaging	Het
Gm4922	T	G	10: 18,783,516 (GRCm38)	Q486P	probably benign	Het
Gm5786	A	T	12: 59,081,298 (GRCm38)		noncoding transcript	Het
Hepacam2	A	T	6: 3,463,378 (GRCm38)		probably benign	Het
Ints9	G	A	14: 64,986,343 (GRCm38)	G89R	possibly damaging	Het
Iqcm	T	A	8: 75,888,613 (GRCm38)	W441R	probably damaging	Het
Itga10	G	T	3: 96,653,723 (GRCm38)	G635W	probably damaging	Het
Itga10	T	C	3: 96,651,492 (GRCm38)	L382P	possibly damaging	Het
Kbtbd2	A	G	6: 56,779,090 (GRCm38)	Y554H	probably damaging	Het
Kif1b	T	C	4: 149,184,309 (GRCm38)	K1649R	probably damaging	Het
L1cam	A	T	X: 73,861,141 (GRCm38)	F536Y	probably damaging	Het
Magee1	A	T	X: 105,122,958 (GRCm38)	D783V	probably damaging	Het
Marveld3	A	T	8: 109,959,802 (GRCm38)	V144E	probably benign	Het
Mcam	T	C	9: 44,136,635 (GRCm38)	V59A	probably damaging	Het
Mdga2	C	T	12: 66,868,741 (GRCm38)	E47K	probably damaging	Het
Metrn	T	A	17: 25,796,627 (GRCm38)	E38V	probably damaging	Het
Mfrp	T	C	9: 44,103,718 (GRCm38)	L314P	probably benign	Het
Mgat4f	T	A	1: 134,390,513 (GRCm38)	M341K	probably damaging	Het
Mideas	G	T	12: 84,173,035 (GRCm38)	P382T	probably damaging	Het
Mospd2	A	G	X: 164,956,477 (GRCm38)		probably null	Het
Mycbp2	G	A	14: 103,155,922 (GRCm38)	H3068Y	probably damaging	Het
Myh6	C	T	14: 54,953,771 (GRCm38)	R871H	probably damaging	Het
Nup214	C	T	2: 32,034,466 (GRCm38)	S1669F	probably damaging	Het
Or13c7b	A	G	4: 43,821,178 (GRCm38)	F61S	probably damaging	Het
Or5b111	T	C	19: 13,314,121 (GRCm38)	T55A	probably benign	Het
Or8i2	T	A	2: 87,021,665 (GRCm38)	N293I	probably damaging	Het
Parvb	A	G	15: 84,232,168 (GRCm38)	K33E	possibly damaging	Het
Pdcd11	A	G	19: 47,104,752 (GRCm38)	M490V	probably benign	Het
Pkd2	A	C	5: 104,455,590 (GRCm38)		probably benign	Het
Reps1	T	A	10: 18,093,313 (GRCm38)	D206E	probably benign	Het
Rimkla	T	A	4: 119,474,582 (GRCm38)	M140L	possibly damaging	Het
Rnf13	T	G	3: 57,802,486 (GRCm38)	I150S	probably null	Het
Rxfp4	C	T	3: 88,652,893 (GRCm38)	A84T	probably damaging	Het
Serpinb8	T	A	1: 107,605,927 (GRCm38)	D237E	probably benign	Het
Sgo2b	T	G	8: 63,928,023 (GRCm38)	T592P	probably benign	Het
Slc35d1	A	T	4: 103,205,152 (GRCm38)	I228N	probably damaging	Het
Slc39a1	T	G	3: 90,249,450 (GRCm38)	H104Q	probably benign	Het
Slc6a6	T	C	6: 91,735,180 (GRCm38)	V230A	probably benign	Het
Slc9a3	A	G	13: 74,121,603 (GRCm38)	E30G	probably benign	Het
Slc9c1	A	G	16: 45,593,464 (GRCm38)	Y985C	probably benign	Het
Supt6	A	G	11: 78,230,932 (GRCm38)	F298S	probably damaging	Het
Tada2a	T	C	11: 84,079,629 (GRCm38)	D432G	probably damaging	Het
Thoc2l	T	C	5: 104,518,991 (GRCm38)	F460L	probably benign	Het
Tmem131	C	A	1: 36,812,609 (GRCm38)	V938L	probably benign	Het
Tnpo3	A	G	6: 29,589,036 (GRCm38)	V105A	probably benign	Het
Ttc7	T	C	17: 87,346,707 (GRCm38)		probably benign	Het
Ttn	T	C	2: 76,897,188 (GRCm38)		probably benign	Het
Usp16	T	C	16: 87,473,187 (GRCm38)		probably null	Het
Usp36	A	G	11: 118,268,665 (GRCm38)	L486S	probably benign	Het
Uty	T	C	Y: 1,239,816 (GRCm38)	I72V	probably benign	Het
Vps51	A	G	19: 6,068,134 (GRCm38)	V777A	probably benign	Het
Zfp160	A	G	17: 21,026,982 (GRCm38)	K598R	probably benign	Het
Zfp39	T	C	11: 58,890,332 (GRCm38)	N535D	probably benign	Het
Zfp804a	A	G	2: 82,258,664 (GRCm38)	T946A	probably benign	Het

Other mutations in Dcaf8l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00469:Dcaf8l	APN	X	89,406,338 (GRCm38)	missense	possibly damaging	0.86
IGL03064:Dcaf8l	APN	X	89,405,251 (GRCm38)	missense	possibly damaging	0.95
R0401:Dcaf8l	UTSW	X	89,405,209 (GRCm38)	missense	probably benign	0.01
R0612:Dcaf8l	UTSW	X	89,405,366 (GRCm38)	nonsense	probably null
R2148:Dcaf8l	UTSW	X	89,406,277 (GRCm38)	missense	possibly damaging	0.85
R3123:Dcaf8l	UTSW	X	89,404,721 (GRCm38)	missense	probably benign	0.01
R3124:Dcaf8l	UTSW	X	89,404,721 (GRCm38)	missense	probably benign	0.01
R3125:Dcaf8l	UTSW	X	89,404,721 (GRCm38)	missense	probably benign	0.01
Z1088:Dcaf8l	UTSW	X	89,406,337 (GRCm38)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TATGGATGAAAACGCCTTCCC -3'
(R):5'- GCTACACAAATGCTGCAGAG -3'

Sequencing Primer
(F):5'- TGAAAACGCCTTCCCAGACTCTG -3'
(R):5'- AAGCATACTCAGCTGCTTGG -3'

Posted On

2014-10-01