Mutagenetix > Incidental Mutation

Incidental Mutation 'R9307:Dcaf6'

705246

Institutional Source

Beutler Lab

Gene Symbol

Dcaf6

Ensembl Gene

ENSMUSG00000026571

Gene Name

DDB1 and CUL4 associated factor 6

Synonyms

NRIP, Iqwd1, 1200006M05Rik, PC326

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

165157069-165288475 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 165227236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 297 (E297G)

Ref Sequence

ENSEMBL: ENSMUSP00000027856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027856]

AlphaFold

Q9DC22

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027856
AA Change: E297G

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027856
Gene: ENSMUSG00000026571
AA Change: E297G

Domain	Start	End	E-Value	Type
WD40	40	79	5.77e-5	SMART
WD40	82	124	1.2e-2	SMART
WD40	130	170	2.15e-1	SMART
WD40	184	220	3.33e-1	SMART
WD40	238	281	6.66e-1	SMART
low complexity region	364	374	N/A	INTRINSIC
low complexity region	499	510	N/A	INTRINSIC
low complexity region	669	676	N/A	INTRINSIC
IQ	691	713	1.25e1	SMART
WD40	722	763	3.84e0	SMART
WD40	766	805	1.22e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (64/64)

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 137,771,183 (GRCm39)	D124A	probably benign	Het
Acd	T	C	8: 106,425,514 (GRCm39)	D273G	probably damaging	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam15	T	C	3: 89,254,790 (GRCm39)	D90G	possibly damaging	Het
Adam2	A	T	14: 66,287,921 (GRCm39)	C392S	probably damaging	Het
Adam23	T	A	1: 63,576,131 (GRCm39)	N304K	probably damaging	Het
Adam34l	A	C	8: 44,079,304 (GRCm39)	F307V	probably benign	Het
Aldh3b3	T	C	19: 4,013,882 (GRCm39)	F28L	probably damaging	Het
Bsn	A	G	9: 107,992,993 (GRCm39)	S920P	probably benign	Het
Btc	A	G	5: 91,550,515 (GRCm39)		probably null	Het
Chchd2	A	T	5: 129,916,054 (GRCm39)	V12E	probably benign	Het
Chia1	A	G	3: 106,035,991 (GRCm39)		probably benign	Het
Chil4	A	T	3: 106,111,382 (GRCm39)		probably null	Het
Clock	A	G	5: 76,364,671 (GRCm39)	F815L	unknown	Het
Cmtr2	C	T	8: 110,949,712 (GRCm39)	T674M	probably benign	Het
Cnbd1	A	C	4: 18,887,647 (GRCm39)	I289R	probably damaging	Het
Cog2	A	T	8: 125,253,837 (GRCm39)		probably null	Het
Col13a1	T	C	10: 61,703,248 (GRCm39)	I454V	unknown	Het
Cyct	T	A	2: 76,184,457 (GRCm39)	Y98F	probably benign	Het
Dgka	T	C	10: 128,567,046 (GRCm39)	H271R	probably damaging	Het
Dnah9	T	A	11: 65,976,300 (GRCm39)	I1250F	probably benign	Het
Dock4	T	C	12: 40,686,155 (GRCm39)	L130P	probably damaging	Het
Dpyd	G	A	3: 119,108,560 (GRCm39)	V868I	probably benign	Het
Dync1li1	T	A	9: 114,535,076 (GRCm39)	D113E	probably damaging	Het
Fat3	T	C	9: 15,932,719 (GRCm39)	K1405E	probably damaging	Het
Fbn2	A	G	18: 58,342,856 (GRCm39)	C8R	probably benign	Het
Frmd4a	A	G	2: 4,609,044 (GRCm39)	M971V	probably benign	Het
Glyatl3	C	T	17: 41,223,553 (GRCm39)		probably null	Het
Grip1	A	T	10: 119,821,454 (GRCm39)	H373L	probably benign	Het
Ins1	T	C	19: 52,253,258 (GRCm39)	L66P	possibly damaging	Het
Kif21b	A	T	1: 136,101,800 (GRCm39)	I1616L	probably benign	Het
Map7d1	A	G	4: 126,128,024 (GRCm39)	M637T	unknown	Het
Mc2r	A	T	18: 68,540,636 (GRCm39)	M219K	probably benign	Het
Mcpt1	A	G	14: 56,256,867 (GRCm39)	D135G	possibly damaging	Het
Mturn	T	C	6: 54,676,541 (GRCm39)		probably null	Het
Mutyh	T	A	4: 116,674,074 (GRCm39)		probably null	Het
Myh3	A	G	11: 66,984,397 (GRCm39)	D1078G	possibly damaging	Het
Or4d5	T	C	9: 40,012,451 (GRCm39)	I112V	probably benign	Het
Pcdha12	A	G	18: 37,153,874 (GRCm39)	K198E	probably damaging	Het
Pcf11	A	T	7: 92,306,534 (GRCm39)	N1211K	possibly damaging	Het
Piezo1	G	A	8: 123,213,832 (GRCm39)	P1711S		Het
Pkd1	T	A	17: 24,769,451 (GRCm39)	L72Q	possibly damaging	Het
Pramel20	C	A	4: 143,299,314 (GRCm39)	L326I	probably damaging	Het
Prss12	A	G	3: 123,299,049 (GRCm39)	D607G	probably benign	Het
R3hdml	T	C	2: 163,344,372 (GRCm39)	*254R	probably null	Het
Rasal3	TTGGACCTGAGTGGA	TTGGA	17: 32,612,502 (GRCm39)	782	probably null	Het
Relch	A	T	1: 105,615,077 (GRCm39)	Y272F	probably benign	Het
Rev3l	C	T	10: 39,693,149 (GRCm39)	P410S	probably benign	Het
Sec14l2	A	G	11: 4,068,665 (GRCm39)	V5A	probably benign	Het
Slc12a3	A	C	8: 95,061,625 (GRCm39)	I291L	probably benign	Het
Slc4a10	T	C	2: 62,083,662 (GRCm39)	F372L	probably damaging	Het
Spta1	T	C	1: 174,035,978 (GRCm39)	W1095R	probably damaging	Het
Synj1	T	C	16: 90,785,095 (GRCm39)	T254A	probably damaging	Het
Taar2	T	C	10: 23,817,237 (GRCm39)	F259S	probably damaging	Het
Tns2	C	A	15: 102,018,996 (GRCm39)	L396I	probably damaging	Het
Tom1l1	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	11: 90,540,648 (GRCm39)		probably benign	Het
Traf5	T	C	1: 191,747,033 (GRCm39)	D96G	probably damaging	Het
Trgv3	A	G	13: 19,427,441 (GRCm39)	E108G	probably damaging	Het
Trpv6	A	G	6: 41,602,378 (GRCm39)	V336A	probably benign	Het
Usp45	A	T	4: 21,824,998 (GRCm39)	L583F	probably damaging	Het
Utrn	T	C	10: 12,554,475 (GRCm39)	D1538G	probably benign	Het
Vmn1r209	T	A	13: 22,990,072 (GRCm39)	H206L	probably damaging	Het
Zfp51	T	A	17: 21,684,733 (GRCm39)	H449Q	probably benign	Het
Zfp653	G	A	9: 21,969,321 (GRCm39)	S315F	possibly damaging	Het

Other mutations in Dcaf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00828:Dcaf6	APN	1	165,165,916 (GRCm39)	splice site	probably benign
IGL01377:Dcaf6	APN	1	165,216,293 (GRCm39)	missense	probably benign	0.01
IGL02027:Dcaf6	APN	1	165,251,910 (GRCm39)	missense	probably damaging	1.00
IGL02390:Dcaf6	APN	1	165,250,490 (GRCm39)	missense	possibly damaging	0.50
IGL02754:Dcaf6	APN	1	165,165,915 (GRCm39)	critical splice acceptor site	probably null
IGL02900:Dcaf6	APN	1	165,227,344 (GRCm39)	missense	probably damaging	1.00
IGL03119:Dcaf6	APN	1	165,167,545 (GRCm39)	missense	probably damaging	1.00
IGL03211:Dcaf6	APN	1	165,250,502 (GRCm39)	missense	possibly damaging	0.55
R0588:Dcaf6	UTSW	1	165,247,792 (GRCm39)	missense	possibly damaging	0.89
R1494:Dcaf6	UTSW	1	165,160,942 (GRCm39)	missense	probably damaging	0.99
R1512:Dcaf6	UTSW	1	165,179,589 (GRCm39)	missense	probably benign	0.22
R1840:Dcaf6	UTSW	1	165,227,317 (GRCm39)	missense	probably damaging	0.96
R2191:Dcaf6	UTSW	1	165,250,433 (GRCm39)	missense	probably benign	0.07
R2297:Dcaf6	UTSW	1	165,227,431 (GRCm39)	missense	probably damaging	1.00
R3082:Dcaf6	UTSW	1	165,250,421 (GRCm39)	splice site	probably benign
R3861:Dcaf6	UTSW	1	165,256,838 (GRCm39)	missense	probably damaging	1.00
R3907:Dcaf6	UTSW	1	165,251,949 (GRCm39)	nonsense	probably null
R4521:Dcaf6	UTSW	1	165,218,059 (GRCm39)	missense	probably damaging	0.98
R4531:Dcaf6	UTSW	1	165,239,036 (GRCm39)	missense	probably damaging	1.00
R4906:Dcaf6	UTSW	1	165,239,032 (GRCm39)	critical splice donor site	probably null
R4916:Dcaf6	UTSW	1	165,247,774 (GRCm39)	missense	probably damaging	1.00
R4956:Dcaf6	UTSW	1	165,216,354 (GRCm39)	missense	probably benign	0.00
R5080:Dcaf6	UTSW	1	165,247,690 (GRCm39)	missense	probably damaging	1.00
R5091:Dcaf6	UTSW	1	165,157,572 (GRCm39)	missense	possibly damaging	0.76
R5277:Dcaf6	UTSW	1	165,251,915 (GRCm39)	missense	probably benign	0.09
R5512:Dcaf6	UTSW	1	165,227,404 (GRCm39)	missense	possibly damaging	0.84
R5914:Dcaf6	UTSW	1	165,178,724 (GRCm39)	missense	probably benign
R6004:Dcaf6	UTSW	1	165,216,254 (GRCm39)	missense	probably benign	0.00
R6239:Dcaf6	UTSW	1	165,178,839 (GRCm39)	missense	possibly damaging	0.47
R6736:Dcaf6	UTSW	1	165,227,354 (GRCm39)	missense	possibly damaging	0.77
R7051:Dcaf6	UTSW	1	165,251,886 (GRCm39)	missense	possibly damaging	0.82
R7110:Dcaf6	UTSW	1	165,179,537 (GRCm39)	missense	probably benign	0.22
R7583:Dcaf6	UTSW	1	165,160,879 (GRCm39)	missense	probably damaging	1.00
R7776:Dcaf6	UTSW	1	165,179,623 (GRCm39)	nonsense	probably null
R7790:Dcaf6	UTSW	1	165,227,284 (GRCm39)	missense	probably damaging	1.00
R8369:Dcaf6	UTSW	1	165,185,043 (GRCm39)	missense	probably damaging	1.00
R8411:Dcaf6	UTSW	1	165,216,244 (GRCm39)	missense	probably benign	0.03
R9061:Dcaf6	UTSW	1	165,164,332 (GRCm39)	missense	probably damaging	0.99
R9375:Dcaf6	UTSW	1	165,185,052 (GRCm39)	missense	probably damaging	1.00
R9626:Dcaf6	UTSW	1	165,227,264 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCTCATTTCATTCCTACAGTCCAG -3'
(R):5'- CTGGAATGGTTGCTCGATTTATACC -3'

Sequencing Primer
(F):5'- CATTCCTACAGTCCAGTTTATTATCC -3'
(R):5'- AATGGTTGCTCGATTTATACCTTCTC -3'

Posted On

2022-03-25