Mutagenetix > Incidental Mutation

Incidental Mutation 'R9125:Wdr47'

693163

Institutional Source

Beutler Lab

Gene Symbol

Wdr47

Ensembl Gene

ENSMUSG00000040389

Gene Name

WD repeat domain 47

Synonyms

nemitin, 1810073M12Rik

MMRRC Submission

068925-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108498595-108553035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108526106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 210 (F210L)

Ref Sequence

ENSEMBL: ENSMUSP00000057482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051145] [ENSMUST00000124731]

AlphaFold

Q8CGF6

Predicted Effect

probably damaging
Transcript: ENSMUST00000051145
AA Change: F210L

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

SMART Domains

Protein: ENSMUSP00000057482
Gene: ENSMUSG00000040389
AA Change: F210L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124731

SMART Domains

Protein: ENSMUSP00000143335
Gene: ENSMUSG00000040389

Domain	Start	End	E-Value	Type
LisH	10	42	2.7e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (64/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	G	A	17: 84,976,425 (GRCm39)	H471Y	probably damaging	Het
Adam3	A	G	8: 25,213,517 (GRCm39)	L61P	probably damaging	Het
Ank2	T	A	3: 126,733,744 (GRCm39)	D622V	probably damaging	Het
Antxr2	G	A	5: 98,151,973 (GRCm39)	S166F	probably damaging	Het
Asph	C	T	4: 9,474,928 (GRCm39)	G682D	possibly damaging	Het
Asz1	T	C	6: 18,054,561 (GRCm39)	E414G	probably benign	Het
Cabp2	G	A	19: 4,135,597 (GRCm39)	D96N	probably damaging	Het
Cc2d2a	T	A	5: 43,860,563 (GRCm39)	D546E	probably benign	Het
Cdca2	T	A	14: 67,917,762 (GRCm39)	R545S	probably benign	Het
Chrna7	G	A	7: 62,757,357 (GRCm39)	Q181*	probably null	Het
Cib1	T	C	7: 79,877,751 (GRCm39)	D182G	probably damaging	Het
Cib4	T	C	5: 30,655,477 (GRCm39)	H76R	probably benign	Het
Cop1	T	G	1: 159,067,187 (GRCm39)	F157V	probably damaging	Het
Cspg4b	C	T	13: 113,505,374 (GRCm39)	P2168S		Het
Dap3	T	A	3: 88,837,861 (GRCm39)	T130S	probably benign	Het
Ddb2	T	A	2: 91,064,593 (GRCm39)	K106*	probably null	Het
Derl3	G	A	10: 75,730,443 (GRCm39)	V169I	probably benign	Het
Dusp6	T	A	10: 99,102,074 (GRCm39)	C353*	probably null	Het
Efcab3	A	T	11: 104,736,360 (GRCm39)	D2110V	probably damaging	Het
Fry	A	G	5: 150,269,525 (GRCm39)	N217S	probably damaging	Het
Gabrb2	A	G	11: 42,482,693 (GRCm39)	T184A	probably damaging	Het
Gfpt1	G	A	6: 87,053,248 (GRCm39)	V403I	probably benign	Het
Gm7276	A	G	18: 77,273,147 (GRCm39)	S196P	unknown	Het
Grik1	T	A	16: 87,852,956 (GRCm39)	T76S		Het
Hrnr	A	G	3: 93,238,863 (GRCm39)	N3034D	unknown	Het
Kmt2c	T	C	5: 25,489,194 (GRCm39)	T4582A	possibly damaging	Het
Mroh9	T	C	1: 162,875,412 (GRCm39)	I496V	probably benign	Het
Muc3a	A	G	5: 137,245,210 (GRCm39)	L115P	probably damaging	Het
Nfe2	A	G	15: 103,157,871 (GRCm39)	L40P	probably damaging	Het
Nipsnap3b	A	T	4: 53,021,177 (GRCm39)	D216V	probably damaging	Het
Or5d14	C	T	2: 87,880,294 (GRCm39)	V225M	probably damaging	Het
Or8b49	T	A	9: 38,506,108 (GRCm39)	I197K	probably damaging	Het
Otx1	G	A	11: 21,949,458 (GRCm39)	Q7*	probably null	Het
Piezo2	A	G	18: 63,178,589 (GRCm39)	I1776T	probably benign	Het
Pira12	T	A	7: 3,900,021 (GRCm39)	I194L	possibly damaging	Het
Ppp1r37	T	C	7: 19,269,014 (GRCm39)	D162G	probably benign	Het
Ppp4c	T	A	7: 126,386,739 (GRCm39)	E116V	probably damaging	Het
Pramel17	A	G	4: 101,694,073 (GRCm39)	V270A	probably benign	Het
Prorp	A	T	12: 55,355,611 (GRCm39)	D372V	possibly damaging	Het
Psme2	T	A	14: 55,828,302 (GRCm39)	K15N	possibly damaging	Het
Retreg1	C	T	15: 25,968,618 (GRCm39)	R125C	probably damaging	Het
Rgs16	A	G	1: 153,617,874 (GRCm39)	E128G	probably null	Het
Rnf145	G	T	11: 44,450,819 (GRCm39)	R381L	probably damaging	Het
Rnf2	T	C	1: 151,347,433 (GRCm39)	K289E	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,669,292 (GRCm39)	V3504A	probably benign	Het
Selp	T	A	1: 163,951,356 (GRCm39)	I30N	probably benign	Het
Serpinb5	C	T	1: 106,798,137 (GRCm39)	A42V	probably benign	Het
Sfpq	G	A	4: 126,915,633 (GRCm39)	G142S	unknown	Het
Sh2d1b2	T	C	1: 170,075,751 (GRCm39)	Y62H	possibly damaging	Het
Sipa1l3	C	T	7: 29,086,656 (GRCm39)	E645K	probably damaging	Het
Slc22a1	T	A	17: 12,878,598 (GRCm39)	T372S	probably benign	Het
Smarca2	T	A	19: 26,693,583 (GRCm39)	D1262E	possibly damaging	Het
Speer4a3	T	C	5: 26,156,596 (GRCm39)	M128V	possibly damaging	Het
Sptbn2	A	T	19: 4,784,241 (GRCm39)	Q661L	probably benign	Het
Tarbp1	G	T	8: 127,174,202 (GRCm39)	T868K	possibly damaging	Het
Tnfrsf8	A	G	4: 145,023,531 (GRCm39)	S101P	probably damaging	Het
Tnfsf10	A	C	3: 27,380,028 (GRCm39)		probably benign	Het
Tsc2	C	T	17: 24,823,802 (GRCm39)	R1001K	probably null	Het
Unc80	T	A	1: 66,718,740 (GRCm39)	S2988T	probably benign	Het
Vmn1r195	A	G	13: 22,463,335 (GRCm39)	I268M	possibly damaging	Het
Vmn1r27	G	A	6: 58,192,416 (GRCm39)	T196I	probably benign	Het
Vmn2r80	T	A	10: 78,984,760 (GRCm39)	D37E	probably benign	Het
Vmn2r9	A	T	5: 108,996,047 (GRCm39)	H200Q		Het
Washc5	T	C	15: 59,209,134 (GRCm39)	Y1030C	probably damaging	Het
Wscd2	C	A	5: 113,715,417 (GRCm39)	A419E	probably benign	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
R7642:Wdr47	UTSW	3	108,550,480 (GRCm39)	missense	possibly damaging	0.47
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
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'- TGCCTCGTTTGACCAATCAC -3'
(R):5'- TGTAGGCTTCAGAAGTTTGTCAAC -3'

Sequencing Primer
(F):5'- GTTTGACCAATCACGCTGAG -3'
(R):5'- GGAGATTCTGAAGCCAAGA -3'

Posted On

2022-01-20