Mutagenetix > Incidental Mutation

Incidental Mutation 'R9390:Wdr48'

710549

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 #

R9390 (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 A at 119746245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 450 (F450L)

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: F450L

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

SMART Domains

Protein: ENSMUSP00000042509
Gene: ENSMUSG00000032512
AA Change: F450L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215307
AA Change: F436L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000217472
AA Change: F450L

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

Coding Region Coverage

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

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	T	16: 90,853,096 (GRCm39)	S13R	probably benign	Het
Amn1	A	T	6: 149,084,983 (GRCm39)	D32E	probably damaging	Het
Asph	T	C	4: 9,635,927 (GRCm39)	D108G	probably damaging	Het
C1rb	T	C	6: 124,557,336 (GRCm39)	L491P	probably damaging	Het
Cep120	G	A	18: 53,839,984 (GRCm39)	R759*	probably null	Het
Chmp6	C	T	11: 119,806,288 (GRCm39)	T38M	possibly damaging	Het
Comtd1	A	G	14: 21,898,867 (GRCm39)	F25S	possibly damaging	Het
Dthd1	G	A	5: 62,975,904 (GRCm39)	G193R	possibly damaging	Het
Dyrk1a	T	A	16: 94,474,330 (GRCm39)	S362R	probably damaging	Het
Ecm2	A	G	13: 49,683,792 (GRCm39)	D590G	probably benign	Het
Exd1	A	T	2: 119,354,180 (GRCm39)	W293R	probably damaging	Het
Fam110a	C	T	2: 151,812,116 (GRCm39)	R218Q	probably benign	Het
Fga	A	T	3: 82,940,610 (GRCm39)	N755Y	probably damaging	Het
Fstl4	C	A	11: 52,891,102 (GRCm39)	T80K	probably benign	Het
Gbp5	A	G	3: 142,208,783 (GRCm39)	K109E	probably benign	Het
Gucy2g	A	G	19: 55,190,607 (GRCm39)	V1009A	probably null	Het
Herc6	C	T	6: 57,602,955 (GRCm39)	Q545*	probably null	Het
Hpd	T	A	5: 123,318,794 (GRCm39)		probably null	Het
Il4	C	T	11: 53,504,837 (GRCm39)	R76H	probably damaging	Het
Inpp4b	T	C	8: 82,497,522 (GRCm39)	V114A	probably damaging	Het
Ints14	A	G	9: 64,891,314 (GRCm39)	T432A	probably benign	Het
Isoc1	G	A	18: 58,804,350 (GRCm39)	R126H	probably damaging	Het
Klb	G	T	5: 65,533,044 (GRCm39)	R451L	possibly damaging	Het
Lrtm2	C	T	6: 119,297,948 (GRCm39)	C31Y	probably benign	Het
Mga	C	T	2: 119,794,332 (GRCm39)	S2672F	probably damaging	Het
Mkrn3	T	C	7: 62,069,288 (GRCm39)	I168V	probably benign	Het
Mlph	C	T	1: 90,867,088 (GRCm39)	T370I	probably benign	Het
Naaladl1	A	T	19: 6,162,725 (GRCm39)	I478F	probably damaging	Het
Neb	A	T	2: 52,065,157 (GRCm39)	H6251Q	probably benign	Het
Nom1	C	T	5: 29,639,766 (GRCm39)	R31C	probably benign	Het
Nup153	A	C	13: 46,840,642 (GRCm39)	F989V	probably damaging	Het
Nup188	T	C	2: 30,220,777 (GRCm39)		probably null	Het
Or4c12	T	C	2: 89,773,569 (GRCm39)	K297E	probably benign	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Or6c210	A	G	10: 129,495,938 (GRCm39)	T88A	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pcare	T	C	17: 72,057,983 (GRCm39)	T565A	probably benign	Het
Pcdhb4	T	C	18: 37,442,781 (GRCm39)	V697A	possibly damaging	Het
Pds5a	G	T	5: 65,823,600 (GRCm39)	Q64K	probably benign	Het
Pmpcb	T	C	5: 21,953,810 (GRCm39)	F353L	probably damaging	Het
Pus10	G	A	11: 23,656,937 (GRCm39)	C221Y	probably damaging	Het
Qrfp	A	G	2: 31,698,749 (GRCm39)	V61A	possibly damaging	Het
Runx1t1	A	G	4: 13,865,932 (GRCm39)	I393M	probably benign	Het
Sh2d5	T	G	4: 137,985,481 (GRCm39)	S310A	probably benign	Het
Shisa9	A	G	16: 12,085,408 (GRCm39)	E339G	possibly damaging	Het
Slc26a10	C	T	10: 127,009,239 (GRCm39)	E641K	probably benign	Het
Slc5a6	A	G	5: 31,197,803 (GRCm39)	V302A	possibly damaging	Het
Tdrd7	T	A	4: 46,005,416 (GRCm39)	D407E	probably damaging	Het
Trp53	A	T	11: 69,478,394 (GRCm39)	Q101L	probably benign	Het
Tsc2	T	A	17: 24,823,824 (GRCm39)	N994Y	probably damaging	Het
Ttc16	T	G	2: 32,657,195 (GRCm39)	K577Q	possibly damaging	Het
Vmn1r195	A	G	13: 22,462,535 (GRCm39)	I2V	probably benign	Het
Vmn2r83	G	T	10: 79,317,322 (GRCm39)	E522*	probably null	Het
Wnt9a	G	A	11: 59,218,592 (GRCm39)	E100K	possibly damaging	Het
Zfp729b	A	T	13: 67,739,182 (GRCm39)	S1028T	probably benign	Het
Zfp729b	C	T	13: 67,742,014 (GRCm39)	V84I	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
R9567:Wdr48	UTSW	9	119,741,454 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTAGCTGAATCCCAGGAGG -3'
(R):5'- AGATACAGTGTCAGGATGTGC -3'

Sequencing Primer
(F):5'- TGAATCCCAGGAGGCACGG -3'
(R):5'- ATTTCGGAGTTCAAGGCCAGC -3'

Posted On

2022-04-18