Mutagenetix > Incidental Mutation

Incidental Mutation 'R9567:Wdr48'

721697

Institutional Source

Beutler Lab

Gene Symbol

Wdr48

Ensembl Gene

ENSMUSG00000032512

Gene Name

WD repeat domain 48

Synonyms

Uaf1, 8430408H12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9567 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119723961-119755652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119741454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 332 (F332L)

Ref Sequence

ENSEMBL: ENSMUSP00000042509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036561] [ENSMUST00000177637] [ENSMUST00000215167] [ENSMUST00000215307] [ENSMUST00000217472]

AlphaFold

Q8BH57

Predicted Effect

probably benign
Transcript: ENSMUST00000036561
AA Change: F332L

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

SMART Domains

Protein: ENSMUSP00000042509
Gene: ENSMUSG00000032512
AA Change: F332L

Domain	Start	End	E-Value	Type
WD40	14	58	2.88e-1	SMART
WD40	64	103	2.1e-7	SMART
WD40	106	145	1.37e-6	SMART
WD40	157	196	5.39e-5	SMART
WD40	199	238	1.62e-8	SMART
WD40	241	280	4.62e-4	SMART
WD40	350	388	8.84e1	SMART
low complexity region	460	471	N/A	INTRINSIC
Pfam:DUF3337	509	673	1.1e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177637

SMART Domains

Protein: ENSMUSP00000136413
Gene: ENSMUSG00000052336

Domain	Start	End	E-Value	Type
Pfam:7tm_1	49	294	3.5e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215167
AA Change: F133L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000215307
AA Change: F332L

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000217472
AA Change: F332L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is ubiquitinated in response to DNA damage. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E10.5 with reduced embryonic growth. Mice heterozygous for this allele exhibit reduced weight at birth, skeletal defects and reduced female and male fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	C	T	13: 119,602,793 (GRCm39)	P52S	probably damaging	Het
6820408C15Rik	C	A	2: 152,270,867 (GRCm39)	P30Q	probably damaging	Het
Adam18	C	T	8: 25,118,210 (GRCm39)	V569I	probably benign	Het
Adnp2	A	T	18: 80,174,133 (GRCm39)	L92Q	probably damaging	Het
Ahi1	C	T	10: 20,857,300 (GRCm39)	H632Y	possibly damaging	Het
Akap9	A	G	5: 4,127,311 (GRCm39)	N3720D	possibly damaging	Het
Alpk3	T	C	7: 80,742,687 (GRCm39)	S835P	possibly damaging	Het
Amer3	C	T	1: 34,627,836 (GRCm39)	L692F	probably benign	Het
Anks6	T	A	4: 47,044,880 (GRCm39)	D342V	unknown	Het
Arap2	G	T	5: 62,761,841 (GRCm39)	F1628L	probably benign	Het
Arhgap21	T	G	2: 20,896,953 (GRCm39)	I108L	possibly damaging	Het
Cacna1h	T	C	17: 25,612,487 (GRCm39)	I404V	probably damaging	Het
Cacna2d3	G	T	14: 28,627,268 (GRCm39)	A1077E	probably benign	Het
Cacng6	T	C	7: 3,483,281 (GRCm39)	V203A	probably benign	Het
Clec1b	A	T	6: 129,382,201 (GRCm39)	D226V	possibly damaging	Het
Crb1	A	C	1: 139,171,208 (GRCm39)	S727R	probably benign	Het
Dars1	T	C	1: 128,343,112 (GRCm39)	I35V		Het
Ddo	T	A	10: 40,523,913 (GRCm39)	V301D	probably damaging	Het
Diablo	C	A	5: 123,662,196 (GRCm39)		probably benign	Het
Dipk1a	T	A	5: 108,057,368 (GRCm39)	K397*	probably null	Het
Dnhd1	C	A	7: 105,353,473 (GRCm39)	H2875Q	probably benign	Het
E230025N22Rik	A	G	18: 36,820,336 (GRCm39)	L282P		Het
Ebna1bp2	A	G	4: 118,478,190 (GRCm39)	Q21R	probably benign	Het
Exoc7	C	T	11: 116,195,724 (GRCm39)	V93I	probably benign	Het
Foxk1	T	A	5: 142,387,713 (GRCm39)	Y145*	probably null	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Fsip2	C	T	2: 82,798,173 (GRCm39)	T489M	probably benign	Het
Gbf1	C	T	19: 46,260,046 (GRCm39)	T1067I		Het
Ggta1	T	A	2: 35,313,333 (GRCm39)	T3S	possibly damaging	Het
Guf1	T	A	5: 69,721,951 (GRCm39)	V370E	possibly damaging	Het
Hmg20a	A	G	9: 56,384,472 (GRCm39)	S81G	probably benign	Het
Igf2r	G	A	17: 12,905,641 (GRCm39)	T2230I	probably damaging	Het
Ighmbp2	A	T	19: 3,332,785 (GRCm39)	M1K	probably null	Het
Klhdc9	T	C	1: 171,187,914 (GRCm39)	T106A	probably benign	Het
Kti12	T	C	4: 108,705,935 (GRCm39)	M283T	possibly damaging	Het
Lrig3	C	T	10: 125,845,964 (GRCm39)	P798S	probably benign	Het
Lrp8	T	C	4: 107,711,469 (GRCm39)	F333L	probably damaging	Het
Lyn	T	A	4: 3,746,757 (GRCm39)	D178E	probably benign	Het
Magi1	G	A	6: 93,655,431 (GRCm39)	A1405V	probably damaging	Het
Magi1	A	C	6: 93,659,931 (GRCm39)		probably null	Het
Mdga1	G	A	17: 30,076,569 (GRCm39)	P68S	probably damaging	Het
Mfsd8	T	C	3: 40,793,933 (GRCm39)	S25G	probably benign	Het
Mgat1	C	A	11: 49,152,694 (GRCm39)	S392R	probably benign	Het
Mtmr2	C	T	9: 13,713,301 (GRCm39)	Q493*	probably null	Het
Myocd	A	T	11: 65,078,410 (GRCm39)	S462T	probably damaging	Het
Ndnf	A	G	6: 65,681,164 (GRCm39)	Y481C	probably damaging	Het
Neb	G	T	2: 52,065,138 (GRCm39)	R6258S	probably damaging	Het
Nlrp4c	A	G	7: 6,063,624 (GRCm39)	M11V	probably benign	Het
Nup93	T	C	8: 95,035,604 (GRCm39)	S658P	possibly damaging	Het
Obox2	T	A	7: 15,130,771 (GRCm39)	M1K	probably null	Het
Or10ag55-ps1	T	A	2: 87,115,037 (GRCm39)	Y134*	probably null	Het
Or10g9	T	A	9: 39,912,367 (GRCm39)	H52L	possibly damaging	Het
Or1e20-ps1	G	T	11: 73,324,789 (GRCm39)	H88N	unknown	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Pcdh18	T	A	3: 49,710,884 (GRCm39)	I144F	possibly damaging	Het
Pcdhgb5	C	T	18: 37,864,982 (GRCm39)	T259I	probably damaging	Het
Pclo	A	G	5: 14,763,436 (GRCm39)	T685A		Het
Pecam1	T	C	11: 106,588,121 (GRCm39)	T139A	possibly damaging	Het
Pi15	T	A	1: 17,695,178 (GRCm39)	L265Q	probably damaging	Het
Pkd1l3	T	A	8: 110,394,173 (GRCm39)	F2053L	probably damaging	Het
Ppp1r36	A	G	12: 76,485,900 (GRCm39)	I353V	probably benign	Het
Ppp1r9a	A	G	6: 5,157,004 (GRCm39)	S961G	probably benign	Het
Rbm42	T	C	7: 30,345,395 (GRCm39)	R151G	possibly damaging	Het
Rnf224	T	C	2: 25,126,354 (GRCm39)		probably benign	Het
Scn2a	C	T	2: 65,518,974 (GRCm39)	T400I	probably damaging	Het
Slc17a5	T	A	9: 78,445,562 (GRCm39)	Q457L	possibly damaging	Het
Slc5a4a	A	T	10: 76,022,396 (GRCm39)	D577V	probably benign	Het
Stim2	A	G	5: 54,232,707 (GRCm39)	D123G	probably damaging	Het
Stxbp5l	A	G	16: 37,061,734 (GRCm39)	F359L	probably benign	Het
Syne1	T	C	10: 5,196,386 (GRCm39)	D3882G	possibly damaging	Het
Synj1	G	T	16: 90,790,912 (GRCm39)	S83Y	possibly damaging	Het
Tfip11	C	T	5: 112,479,029 (GRCm39)	T199I	probably damaging	Het
Thoc2l	T	A	5: 104,669,644 (GRCm39)	S1389T	probably benign	Het
Tiam1	T	A	16: 89,591,653 (GRCm39)	D1349V	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ucn3	T	A	13: 3,991,313 (GRCm39)	D113V	probably damaging	Het
Ugt3a1	A	G	15: 9,306,370 (GRCm39)	D173G	possibly damaging	Het
Uimc1	C	A	13: 55,188,427 (GRCm39)	R544L	possibly damaging	Het
Unc13c	T	C	9: 73,536,485 (GRCm39)	S1623G	probably damaging	Het
Vmn2r41	T	C	7: 8,141,391 (GRCm39)	N691S	probably benign	Het
Wdr24	T	A	17: 26,043,190 (GRCm39)	M4K	probably damaging	Het
Xpo7	A	G	14: 70,903,466 (GRCm39)	V1080A	probably benign	Het
Zc3h3	A	T	15: 75,651,261 (GRCm39)	I653N	probably damaging	Het
Zfp1005	A	T	2: 150,109,517 (GRCm39)	H69L	possibly damaging	Het
Zfp362	T	A	4: 128,688,681 (GRCm39)	M1L	unknown	Het
Zfp503	A	G	14: 22,036,041 (GRCm39)	C292R	possibly damaging	Het

Other mutations in Wdr48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Wdr48	APN	9	119,734,456 (GRCm39)	missense	probably damaging	1.00
IGL02005:Wdr48	APN	9	119,734,455 (GRCm39)	missense	probably damaging	1.00
IGL02097:Wdr48	APN	9	119,753,329 (GRCm39)	missense	probably damaging	1.00
IGL02217:Wdr48	APN	9	119,738,601 (GRCm39)	missense	probably benign	0.01
IGL02416:Wdr48	APN	9	119,753,826 (GRCm39)	missense	probably damaging	0.98
IGL03198:Wdr48	APN	9	119,741,479 (GRCm39)	missense	probably benign	0.01
R0005:Wdr48	UTSW	9	119,738,500 (GRCm39)	missense	probably benign	0.01
R0109:Wdr48	UTSW	9	119,747,634 (GRCm39)	splice site	probably benign
R1753:Wdr48	UTSW	9	119,753,313 (GRCm39)	nonsense	probably null
R1829:Wdr48	UTSW	9	119,733,396 (GRCm39)	missense	probably benign	0.03
R1837:Wdr48	UTSW	9	119,734,482 (GRCm39)	missense	probably damaging	0.99
R1881:Wdr48	UTSW	9	119,738,606 (GRCm39)	missense	probably benign	0.00
R1916:Wdr48	UTSW	9	119,741,483 (GRCm39)	missense	probably benign	0.01
R2039:Wdr48	UTSW	9	119,738,453 (GRCm39)	missense	probably damaging	1.00
R2421:Wdr48	UTSW	9	119,731,470 (GRCm39)	missense	probably damaging	1.00
R3031:Wdr48	UTSW	9	119,753,176 (GRCm39)	missense	probably benign	0.02
R3719:Wdr48	UTSW	9	119,736,197 (GRCm39)	missense	probably damaging	1.00
R6014:Wdr48	UTSW	9	119,753,775 (GRCm39)	missense	probably damaging	1.00
R6054:Wdr48	UTSW	9	119,736,843 (GRCm39)	missense	probably damaging	1.00
R6182:Wdr48	UTSW	9	119,753,832 (GRCm39)	missense	probably damaging	1.00
R6285:Wdr48	UTSW	9	119,749,676 (GRCm39)	missense	probably damaging	1.00
R6434:Wdr48	UTSW	9	119,745,879 (GRCm39)	missense	possibly damaging	0.94
R7167:Wdr48	UTSW	9	119,736,855 (GRCm39)	critical splice donor site	probably null
R7282:Wdr48	UTSW	9	119,740,147 (GRCm39)	missense	probably damaging	1.00
R7567:Wdr48	UTSW	9	119,745,894 (GRCm39)	missense	possibly damaging	0.66
R7912:Wdr48	UTSW	9	119,733,405 (GRCm39)	missense	probably damaging	1.00
R8373:Wdr48	UTSW	9	119,734,560 (GRCm39)	missense	probably damaging	1.00
R8932:Wdr48	UTSW	9	119,740,142 (GRCm39)	missense	probably damaging	1.00
R9183:Wdr48	UTSW	9	119,749,730 (GRCm39)	missense	possibly damaging	0.59
R9390:Wdr48	UTSW	9	119,746,245 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATTCTCTCCTTAAGACTTGTTGGG -3'
(R):5'- CTGGGCTTTTGTCTATAGCAGC -3'

Sequencing Primer
(F):5'- CTCCTTAAGACTTGTTGGGGATTTC -3'
(R):5'- TAAAGTCTGCTTGCCTGG -3'

Posted On

2022-08-09