Mutagenetix > Incidental Mutation

Incidental Mutation 'R9268:Wdr47'

702668

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 #

R9268 (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 108525812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 112 (F112L)

Ref Sequence

ENSEMBL: ENSMUSP00000057482 (fasta)

Gene Model

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

AlphaFold

Q8CGF6

Predicted Effect

probably benign
Transcript: ENSMUST00000051145
AA Change: F112L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000057482
Gene: ENSMUSG00000040389
AA Change: F112L

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: 99.8%
20x: 99.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,969,030 (GRCm39)	T218A	possibly damaging	Het
Acadsb	C	T	7: 131,033,763 (GRCm39)	T260I	probably damaging	Het
Acap2	A	T	16: 30,955,392 (GRCm39)	V161E	probably damaging	Het
Adnp	A	G	2: 168,031,233 (GRCm39)	I26T	possibly damaging	Het
Alk	T	C	17: 72,181,190 (GRCm39)	T1367A	probably damaging	Het
Apoa5	A	T	9: 46,181,719 (GRCm39)	D265V	probably benign	Het
Asb15	G	A	6: 24,566,298 (GRCm39)	R417H	probably benign	Het
Atg2a	A	C	19: 6,291,905 (GRCm39)	H27P	probably damaging	Het
Bace1	G	T	9: 45,767,282 (GRCm39)		probably benign	Het
Camk1d	A	G	2: 5,303,901 (GRCm39)	S351P	probably benign	Het
Carf	C	A	1: 60,148,558 (GRCm39)	Q85K	possibly damaging	Het
Cdh19	A	G	1: 110,877,111 (GRCm39)	F76S	probably damaging	Het
Ces1b	A	C	8: 93,798,583 (GRCm39)	V201G	probably damaging	Het
Clk1	A	G	1: 58,458,882 (GRCm39)	L133S	unknown	Het
Clstn3	G	A	6: 124,433,880 (GRCm39)	L427F	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cyp2j11	A	T	4: 96,207,781 (GRCm39)		probably benign	Het
Dctn4	T	A	18: 60,659,304 (GRCm39)	M1K	probably null	Het
Dnah12	A	G	14: 26,571,255 (GRCm39)	K2788R	possibly damaging	Het
Dtna	T	A	18: 23,702,643 (GRCm39)	V58D	possibly damaging	Het
Egfr	T	A	11: 16,855,410 (GRCm39)	D898E	probably damaging	Het
Eif2ak4	G	C	2: 118,271,701 (GRCm39)		probably null	Het
Enam	A	G	5: 88,640,778 (GRCm39)	M147V	probably benign	Het
Etaa1	A	T	11: 17,896,419 (GRCm39)	V566E	probably damaging	Het
F13a1	C	T	13: 37,076,910 (GRCm39)	G593D	probably benign	Het
Far2	C	T	6: 148,060,418 (GRCm39)	T257I	probably benign	Het
Fat4	C	T	3: 38,942,396 (GRCm39)	R430C	probably damaging	Het
Fhod3	T	C	18: 24,842,832 (GRCm39)		probably null	Het
Fuca2	G	A	10: 13,390,563 (GRCm39)	W453*	probably null	Het
Hjv	T	C	3: 96,435,881 (GRCm39)	F380L	probably benign	Het
Hycc2	T	C	1: 58,591,361 (GRCm39)	D94G	probably damaging	Het
Ift70a1	A	T	2: 75,811,279 (GRCm39)	V268E	probably benign	Het
Igkv4-72	A	T	6: 69,203,980 (GRCm39)	Y70*	probably null	Het
Kdm1b	A	C	13: 47,217,705 (GRCm39)	N388T	probably benign	Het
Klri2	A	T	6: 129,710,037 (GRCm39)	W188R	probably damaging	Het
Lama4	A	G	10: 38,950,688 (GRCm39)	Y997C	probably damaging	Het
Lrrc73	T	C	17: 46,565,535 (GRCm39)	S89P	probably benign	Het
Macf1	T	C	4: 123,367,582 (GRCm39)	E2393G	probably damaging	Het
Mfsd14b	A	G	13: 65,222,855 (GRCm39)	L265P	probably damaging	Het
Msantd5f3	T	C	4: 73,575,373 (GRCm39)	S351P	probably damaging	Het
Myo3b	A	C	2: 70,257,305 (GRCm39)	*1334C	probably null	Het
Nfatc4	A	T	14: 56,064,685 (GRCm39)	I391F	probably damaging	Het
Nlgn1	A	T	3: 25,490,548 (GRCm39)	M393K	probably damaging	Het
Or5h17	T	G	16: 58,820,083 (GRCm39)	F12V	probably damaging	Het
Or9i14	A	T	19: 13,792,388 (GRCm39)	C189S	probably damaging	Het
Otogl	A	T	10: 107,616,917 (GRCm39)	C1787S	probably damaging	Het
Papola	A	G	12: 105,766,032 (GRCm39)	E44G	probably benign	Het
Parp1	A	G	1: 180,415,509 (GRCm39)	K443E	possibly damaging	Het
Pcdh15	A	T	10: 74,479,455 (GRCm39)	E522V	probably benign	Het
Peli2	A	G	14: 48,518,927 (GRCm39)	E225G	probably benign	Het
Pus7l	T	C	15: 94,431,445 (GRCm39)	I395V	probably benign	Het
Rmi1	T	C	13: 58,555,853 (GRCm39)	I34T	probably damaging	Het
Rnf220	A	G	4: 117,346,833 (GRCm39)	I193T	probably benign	Het
Rpgrip1l	T	C	8: 92,007,355 (GRCm39)	T412A	probably benign	Het
Shisa7	T	G	7: 4,837,333 (GRCm39)	D244A	probably damaging	Het
Slco3a1	T	C	7: 73,952,946 (GRCm39)	T538A	probably benign	Het
Sptlc1	A	T	13: 53,512,872 (GRCm39)	I162N	probably damaging	Het
Ssrp1	C	A	2: 84,870,606 (GRCm39)		probably benign	Het
Sytl2	A	G	7: 90,034,359 (GRCm39)	N523S	probably benign	Het
Tcf20	A	G	15: 82,740,705 (GRCm39)	S249P	probably benign	Het
Thumpd3	T	A	6: 113,043,819 (GRCm39)	F411L	probably damaging	Het
Ttn	A	G	2: 76,768,079 (GRCm39)	W3007R	unknown	Het
Ulbp1	A	T	10: 7,396,392 (GRCm39)	L295Q	unknown	Het
Vmn1r29	T	A	6: 58,284,577 (GRCm39)	V99E	probably damaging	Het
Wnk2	A	G	13: 49,235,507 (GRCm39)	V636A	possibly damaging	Het
Zswim8	T	C	14: 20,761,908 (GRCm39)	L227P	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
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
R9217:Wdr47	UTSW	3	108,525,890 (GRCm39)	missense	probably damaging	1.00
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'- GCTCCCTGGTGTGAACTTTG -3'
(R):5'- CCTCTTCAAAGCAGTGAACTCG -3'

Sequencing Primer
(F):5'- GTGCATGAACTCTATGAACCCAGTG -3'
(R):5'- CTTCAAAGCAGTGAACTCGTGCAG -3'

Posted On

2022-03-25