Mutagenetix > Incidental Mutation

Incidental Mutation 'R7642:Wdr47'

590285

Institutional Source

Beutler Lab

Gene Symbol

Wdr47

Ensembl Gene

ENSMUSG00000040389

Gene Name

WD repeat domain 47

Synonyms

nemitin, 1810073M12Rik

MMRRC Submission

045645-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7642 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108498595-108553035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108550480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 835 (M835K)

Ref Sequence

ENSEMBL: ENSMUSP00000057482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051145]

AlphaFold

Q8CGF6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051145
AA Change: M835K

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000057482
Gene: ENSMUSG00000040389
AA Change: M835K

Domain	Start	End	E-Value	Type
LisH	10	42	8.87e-4	SMART
CTLH	45	102	1.93e-13	SMART
low complexity region	137	146	N/A	INTRINSIC
low complexity region	226	254	N/A	INTRINSIC
coiled coil region	414	455	N/A	INTRINSIC
low complexity region	506	523	N/A	INTRINSIC
WD40	597	635	7e-4	SMART
WD40	648	690	5.18e-7	SMART
WD40	698	742	2.28e2	SMART
WD40	745	783	9.38e-5	SMART
WD40	790	829	1.31e-3	SMART
WD40	832	871	1.28e-6	SMART
WD40	878	917	7.39e-3	SMART

Meta Mutation Damage Score

0.1417

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3b1	T	C	13: 94,613,540 (GRCm39)	S680P	probably benign	Het
Carmil1	T	C	13: 24,251,189 (GRCm39)	T844A	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Clca4a	A	T	3: 144,659,512 (GRCm39)	D781E	probably benign	Het
Col10a1	A	G	10: 34,271,638 (GRCm39)	M537V	probably benign	Het
Col5a2	A	G	1: 45,415,248 (GRCm39)	M1497T	probably benign	Het
Csmd1	T	A	8: 16,135,192 (GRCm39)	I1655F	probably damaging	Het
Cts3	A	G	13: 61,716,589 (GRCm39)	S16P	probably benign	Het
Cyp2c67	T	C	19: 39,604,084 (GRCm39)	Y424C	probably damaging	Het
Dip2c	T	C	13: 9,672,741 (GRCm39)		probably null	Het
Dnah5	T	C	15: 28,248,125 (GRCm39)		probably null	Het
Dpp4	A	G	2: 62,190,627 (GRCm39)		probably null	Het
Fam135b	T	G	15: 71,350,991 (GRCm39)	N295T	possibly damaging	Het
Fign	A	G	2: 63,810,916 (GRCm39)	V118A	probably benign	Het
Gpr108	A	T	17: 57,543,228 (GRCm39)	Y480*	probably null	Het
Ky	T	C	9: 102,419,469 (GRCm39)	V492A	probably benign	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Lrrc30	C	T	17: 67,939,472 (GRCm39)	G36E	probably damaging	Het
Map2	T	C	1: 66,452,466 (GRCm39)	V452A	probably benign	Het
Mks1	C	T	11: 87,747,666 (GRCm39)	T183M	possibly damaging	Het
Mpg	G	A	11: 32,179,517 (GRCm39)		probably null	Het
Nat10	A	G	2: 103,557,131 (GRCm39)	L841P	possibly damaging	Het
Nbeal1	A	G	1: 60,316,386 (GRCm39)	E1863G	probably benign	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Nr2e3	T	A	9: 59,854,671 (GRCm39)	I292F	possibly damaging	Het
Nxn	T	C	11: 76,163,285 (GRCm39)	Y246C	probably damaging	Het
Or1o3	A	T	17: 37,573,964 (GRCm39)	M197K	probably benign	Het
Or4f4b	T	C	2: 111,313,823 (GRCm39)	F44S	probably damaging	Het
Or5ac15	T	G	16: 58,940,011 (GRCm39)	T141P	possibly damaging	Het
Or5h26	A	G	16: 58,988,080 (GRCm39)	V142A	probably benign	Het
Or8k17	A	T	2: 86,066,660 (GRCm39)	L166*	probably null	Het
Pcdha5	T	A	18: 37,093,544 (GRCm39)	F18I	probably benign	Het
Pcdhb17	A	G	18: 37,618,779 (GRCm39)	K190E	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Ppm1g	G	T	5: 31,362,447 (GRCm39)	Y284*	probably null	Het
Rp1	A	G	1: 4,218,054 (GRCm39)	V1026A	unknown	Het
Scap	C	T	9: 110,203,081 (GRCm39)	R252C	probably damaging	Het
Scn9a	C	A	2: 66,366,580 (GRCm39)	K734N	probably benign	Het
Sema5a	C	T	15: 32,682,471 (GRCm39)	S955F	probably damaging	Het
Serpinb10	A	G	1: 107,456,831 (GRCm39)		probably null	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Sh2d5	A	G	4: 137,986,467 (GRCm39)	T397A	probably benign	Het
Slc22a8	T	C	19: 8,587,409 (GRCm39)	F490L	probably benign	Het
Tbc1d19	A	T	5: 54,014,260 (GRCm39)	Y296F	probably damaging	Het
Tmppe	T	C	9: 114,233,862 (GRCm39)	S54P	possibly damaging	Het
Vmn1r123	A	T	7: 20,896,795 (GRCm39)	N229I	probably benign	Het
Wdr36	T	A	18: 32,987,624 (GRCm39)		probably null	Het
Wscd2	A	T	5: 113,715,475 (GRCm39)	K438N	possibly damaging	Het
Xrcc6	T	A	15: 81,900,678 (GRCm39)		probably null	Het
Xrn1	T	A	9: 95,903,906 (GRCm39)	F1148I	possibly damaging	Het
Zmynd8	T	C	2: 165,654,346 (GRCm39)	D722G	probably damaging	Het

Other mutations in Wdr47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00576:Wdr47	APN	3	108,526,050 (GRCm39)	missense	probably benign	0.04
IGL01730:Wdr47	APN	3	108,518,712 (GRCm39)	missense	probably damaging	1.00
IGL01821:Wdr47	APN	3	108,534,520 (GRCm39)	missense	probably damaging	1.00
IGL03367:Wdr47	APN	3	108,537,089 (GRCm39)	splice site	probably benign
R0025:Wdr47	UTSW	3	108,545,307 (GRCm39)	missense	probably damaging	1.00
R0217:Wdr47	UTSW	3	108,544,336 (GRCm39)	missense	probably damaging	0.96
R0733:Wdr47	UTSW	3	108,525,939 (GRCm39)	missense	probably damaging	1.00
R1329:Wdr47	UTSW	3	108,534,615 (GRCm39)	missense	probably benign	0.14
R1330:Wdr47	UTSW	3	108,537,069 (GRCm39)	missense	probably benign	0.30
R1894:Wdr47	UTSW	3	108,530,692 (GRCm39)	missense	possibly damaging	0.56
R2004:Wdr47	UTSW	3	108,534,758 (GRCm39)	nonsense	probably null
R2040:Wdr47	UTSW	3	108,530,688 (GRCm39)	missense	probably benign	0.01
R2242:Wdr47	UTSW	3	108,526,431 (GRCm39)	missense	probably damaging	1.00
R3795:Wdr47	UTSW	3	108,532,053 (GRCm39)	critical splice donor site	probably null
R5026:Wdr47	UTSW	3	108,525,838 (GRCm39)	nonsense	probably null
R5732:Wdr47	UTSW	3	108,540,472 (GRCm39)	nonsense	probably null
R5823:Wdr47	UTSW	3	108,550,401 (GRCm39)	missense	probably damaging	1.00
R5838:Wdr47	UTSW	3	108,532,052 (GRCm39)	critical splice donor site	probably null
R5890:Wdr47	UTSW	3	108,517,328 (GRCm39)	missense	probably damaging	1.00
R5896:Wdr47	UTSW	3	108,526,322 (GRCm39)	missense	probably damaging	1.00
R5898:Wdr47	UTSW	3	108,545,201 (GRCm39)	splice site	probably null
R6778:Wdr47	UTSW	3	108,540,412 (GRCm39)	missense	probably benign	0.16
R7019:Wdr47	UTSW	3	108,521,671 (GRCm39)	nonsense	probably null
R7051:Wdr47	UTSW	3	108,525,840 (GRCm39)	missense	probably damaging	1.00
R7535:Wdr47	UTSW	3	108,537,027 (GRCm39)	missense	probably benign	0.01
R7709:Wdr47	UTSW	3	108,525,837 (GRCm39)	missense	probably damaging	1.00
R8048:Wdr47	UTSW	3	108,526,284 (GRCm39)	missense	probably damaging	0.99
R8868:Wdr47	UTSW	3	108,498,841 (GRCm39)	start gained	probably benign
R8944:Wdr47	UTSW	3	108,550,480 (GRCm39)	missense	possibly damaging	0.47
R9123:Wdr47	UTSW	3	108,526,106 (GRCm39)	missense	probably damaging	1.00
R9125:Wdr47	UTSW	3	108,526,106 (GRCm39)	missense	probably damaging	1.00
R9217:Wdr47	UTSW	3	108,525,890 (GRCm39)	missense	probably damaging	1.00
R9268:Wdr47	UTSW	3	108,525,812 (GRCm39)	missense	probably benign
R9485:Wdr47	UTSW	3	108,544,371 (GRCm39)	missense	probably damaging	1.00
R9611:Wdr47	UTSW	3	108,518,729 (GRCm39)	missense	probably damaging	1.00
X0062:Wdr47	UTSW	3	108,526,374 (GRCm39)	missense	probably benign	0.01
Z1177:Wdr47	UTSW	3	108,526,430 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGGTTCAGTGAACTTGAGGAG -3'
(R):5'- ACACAGAAGAAGTCATTGTAGTAAATC -3'

Sequencing Primer
(F):5'- AACTTGAGGAGTTACATTGTGGC -3'
(R):5'- TTCACTCAACTTACTACAAGA -3'

Posted On

2019-10-24