Mutagenetix > Incidental Mutation

Incidental Mutation 'R9123:Wdr47'

693011

Institutional Source

Beutler Lab

Gene Symbol

Wdr47

Ensembl Gene

ENSMUSG00000040389

Gene Name

WD repeat domain 47

Synonyms

nemitin, 1810073M12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9123 (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: 98.9%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	G	A	17: 84,976,425 (GRCm39)	H471Y	probably damaging	Het
Ank2	T	A	3: 126,733,744 (GRCm39)	D622V	probably damaging	Het
Apoe	T	A	7: 19,432,375 (GRCm39)		probably benign	Het
Asz1	T	C	6: 18,054,561 (GRCm39)	E414G	probably benign	Het
Atp2a2	A	T	5: 122,604,918 (GRCm39)	C420*	probably null	Het
Cd84	A	T	1: 171,712,153 (GRCm39)		probably null	Het
Cdca2	T	A	14: 67,917,762 (GRCm39)	R545S	probably benign	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cib1	T	C	7: 79,877,751 (GRCm39)	D182G	probably damaging	Het
Cpsf2	A	G	12: 101,963,555 (GRCm39)	D428G	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
Ehd2	G	A	7: 15,684,626 (GRCm39)	A391V	probably damaging	Het
Evpl	A	T	11: 116,115,008 (GRCm39)	I894N	possibly 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
Gli1	A	G	10: 127,167,202 (GRCm39)	S684P	possibly damaging	Het
Gm7276	A	G	18: 77,273,147 (GRCm39)	S196P	unknown	Het
Hoxc10	C	T	15: 102,875,810 (GRCm39)	P173L	probably benign	Het
Hrnr	A	G	3: 93,238,863 (GRCm39)	N3034D	unknown	Het
Kif2c	A	T	4: 117,024,291 (GRCm39)	S359T	probably benign	Het
Lmln	T	G	16: 32,930,202 (GRCm39)	L553R	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mettl1	T	A	10: 126,880,911 (GRCm39)	V191D	possibly damaging	Het
Mical2	A	C	7: 111,870,589 (GRCm39)	K26T	possibly damaging	Het
Myl1	A	T	1: 66,973,675 (GRCm39)		probably null	Het
Nfat5	A	G	8: 108,078,141 (GRCm39)	T427A	probably damaging	Het
Noa1	T	C	5: 77,457,038 (GRCm39)	Y289C	possibly 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
Piezo2	A	G	18: 63,178,589 (GRCm39)	I1776T	probably benign	Het
Ppp1r7	A	G	1: 93,285,497 (GRCm39)	I246V	probably benign	Het
Ppp4c	T	A	7: 126,386,739 (GRCm39)	E116V	probably 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
Rnf145	G	T	11: 44,450,819 (GRCm39)	R381L	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,771,229 (GRCm39)	T2604I	probably damaging	Het
Sag	T	C	1: 87,751,043 (GRCm39)	S170P	probably damaging	Het
Sema3b	T	A	9: 107,478,173 (GRCm39)	N404I	possibly damaging	Het
Serpina1b	A	T	12: 103,696,566 (GRCm39)	L281Q	probably damaging	Het
Slc22a1	T	A	17: 12,878,598 (GRCm39)	T372S	probably benign	Het
Slco6d1	A	T	1: 98,423,919 (GRCm39)	N524Y	probably damaging	Het
Smarca2	T	A	19: 26,693,583 (GRCm39)	D1262E	possibly damaging	Het
Syne2	A	T	12: 76,040,838 (GRCm39)	H3832L	probably damaging	Het
Tarbp1	G	T	8: 127,174,202 (GRCm39)	T868K	possibly damaging	Het
Trp63	C	T	16: 25,639,247 (GRCm39)	A145V	probably damaging	Het
Tsc2	C	T	17: 24,823,802 (GRCm39)	R1001K	probably null	Het
Ttc39b	T	C	4: 83,189,444 (GRCm39)	D30G	probably damaging	Het
Usf3	A	G	16: 44,041,030 (GRCm39)	T1837A	probably benign	Het
Usp25	T	A	16: 76,911,969 (GRCm39)		probably null	Het
Vmn1r27	G	A	6: 58,192,416 (GRCm39)	T196I	probably benign	Het
Vrk3	C	T	7: 44,407,254 (GRCm39)	S75F	possibly damaging	Het
Washc5	T	C	15: 59,209,134 (GRCm39)	Y1030C	probably damaging	Het
Zfp853	G	A	5: 143,274,496 (GRCm39)	Q390*	probably null	Het
Zfyve9	A	T	4: 108,575,760 (GRCm39)	D440E	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
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'- CACGCTGAGTTTAAGGACTGG -3'
(R):5'- TCAGCATATGCAGCTTTTGTAGG -3'

Sequencing Primer
(F):5'- CTGAGTTTAAGGACTGGAATCCC -3'
(R):5'- GGCTTCAGAAGTTTGTCAACATG -3'

Posted On

2022-01-20