Mutagenetix > Incidental Mutation

Incidental Mutation 'R9217:Wdr47'

699236

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 #

R9217 (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 108525890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 138 (C138S)

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: C138S

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

SMART Domains

Protein: ENSMUSP00000057482
Gene: ENSMUSG00000040389
AA Change: C138S

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: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	C	6: 92,808,967 (GRCm39)	V98A	unknown	Het
Abca15	A	T	7: 119,987,439 (GRCm39)	M1242L	probably benign	Het
Abcb9	G	A	5: 124,214,090 (GRCm39)	R576C	possibly damaging	Het
Abl2	A	G	1: 156,452,902 (GRCm39)	S146G	probably damaging	Het
Aga	G	A	8: 53,966,627 (GRCm39)	G60S	probably damaging	Het
Amigo1	T	A	3: 108,095,944 (GRCm39)	V481D	probably damaging	Het
Ano5	C	A	7: 51,243,415 (GRCm39)	P846Q	probably damaging	Het
Ccdc62	C	A	5: 124,092,470 (GRCm39)	T485K	probably benign	Het
Cd177	A	T	7: 24,445,550 (GRCm39)	I631K	possibly damaging	Het
Chil6	T	A	3: 106,313,411 (GRCm39)		probably benign	Het
Clip1	A	G	5: 123,717,441 (GRCm39)	S1283P	probably damaging	Het
Cpt1a	G	A	19: 3,425,111 (GRCm39)	V493I	probably benign	Het
Dcbld1	T	A	10: 52,138,028 (GRCm39)	D97E	probably benign	Het
Decr1	G	A	4: 15,930,969 (GRCm39)	P121L	probably damaging	Het
Ehmt1	A	T	2: 24,729,578 (GRCm39)	L661Q	probably benign	Het
Eif2d	A	G	1: 131,085,972 (GRCm39)	M156V	possibly damaging	Het
Ermn	A	T	2: 57,938,010 (GRCm39)	I201K	probably damaging	Het
Etfbkmt	T	C	6: 149,045,663 (GRCm39)	C6R	probably benign	Het
Evx2	A	T	2: 74,488,109 (GRCm39)		probably null	Het
Fam222a	T	C	5: 114,748,905 (GRCm39)	S34P	probably benign	Het
Fmo6	A	T	1: 162,748,046 (GRCm39)	D339E	probably benign	Het
Fubp1	T	C	3: 151,923,873 (GRCm39)	S142P	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gnb1	A	T	4: 155,625,033 (GRCm39)	Q75L	probably damaging	Het
Gucy2e	C	T	11: 69,126,778 (GRCm39)	A232T	possibly damaging	Het
Haspin	A	T	11: 73,026,936 (GRCm39)	C718S	probably benign	Het
Iqcd	C	T	5: 120,738,707 (GRCm39)	P175L	possibly damaging	Het
Jph1	T	A	1: 17,167,632 (GRCm39)	Q66L	probably benign	Het
Kank1	G	T	19: 25,386,944 (GRCm39)	D206Y	possibly damaging	Het
Klf14	T	C	6: 30,935,470 (GRCm39)	T55A	probably benign	Het
Lclat1	T	C	17: 73,494,879 (GRCm39)	M125T	probably damaging	Het
Lgr5	T	A	10: 115,423,349 (GRCm39)	Q17L	probably benign	Het
Lrmda	A	G	14: 22,648,361 (GRCm39)	I64V	unknown	Het
Lrrc15	A	G	16: 30,092,415 (GRCm39)	L308P	probably damaging	Het
Lyst	C	A	13: 13,871,245 (GRCm39)	Q2661K	probably benign	Het
Map3k21	T	A	8: 126,638,027 (GRCm39)	D204E	possibly damaging	Het
Msln	T	C	17: 25,970,125 (GRCm39)	I277V	probably benign	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Nup153	G	A	13: 46,835,138 (GRCm39)	T1389M	probably damaging	Het
Or8c10	A	G	9: 38,279,268 (GRCm39)	Y132C	probably damaging	Het
Plcd1	T	C	9: 118,901,723 (GRCm39)		probably null	Het
Plce1	C	T	19: 38,748,551 (GRCm39)	R1761C	probably damaging	Het
Prrc2b	T	C	2: 32,103,414 (GRCm39)	L964P	probably damaging	Het
Prss43	T	C	9: 110,656,564 (GRCm39)	S84P	possibly damaging	Het
Rffl	T	C	11: 82,703,633 (GRCm39)	T97A	possibly damaging	Het
Riok2	G	C	17: 17,598,057 (GRCm39)	G48A	possibly damaging	Het
Sec24a	A	G	11: 51,617,331 (GRCm39)	M488T	probably benign	Het
Setdb2	C	T	14: 59,646,881 (GRCm39)	D545N	possibly damaging	Het
Slc39a4	T	A	15: 76,498,126 (GRCm39)	H400L	possibly damaging	Het
St7	T	A	6: 17,846,271 (GRCm39)	F175I	probably damaging	Het
Syne1	T	A	10: 5,299,324 (GRCm39)	D977V	probably damaging	Het
Tenm4	C	T	7: 96,534,646 (GRCm39)	T1801I	probably damaging	Het
Terf1	C	T	1: 15,883,295 (GRCm39)	T136I	probably damaging	Het
Tnnt1	T	C	7: 4,513,381 (GRCm39)	S42G	probably benign	Het
Trappc8	A	G	18: 21,000,822 (GRCm39)	V287A	probably benign	Het
Ttc3	T	A	16: 94,230,467 (GRCm39)	I870K	possibly damaging	Het
Ttn	A	T	2: 76,574,389 (GRCm39)	N25501K	possibly damaging	Het
Unc13c	A	T	9: 73,485,715 (GRCm39)	W1662R	probably damaging	Het
Zfp458	A	G	13: 67,408,298 (GRCm39)	S6P	probably damaging	Het
Zfp668	A	C	7: 127,465,804 (GRCm39)	L460*	probably null	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
R9125:Wdr47	UTSW	3	108,526,106 (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'- TGTATGTTCTCTGGCACCAAC -3'
(R):5'- GCATTCATAAAGTAGGCCCTTC -3'

Sequencing Primer
(F):5'- GGCACCAACATCTATCTTTTATGC -3'
(R):5'- AAGTAGGCCCTTCATTACGAGCTG -3'

Posted On

2022-02-07