Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Wdr48'

279637

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr48

Ensembl Gene

ENSMUSG00000032512

Gene Name

WD repeat domain 48

Synonyms

Uaf1, 8430408H12Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

119894878-119926587 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119924263 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 644 (D644G)

Ref Sequence

ENSEMBL: ENSMUSP00000042509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035099] [ENSMUST00000036561] [ENSMUST00000177637] [ENSMUST00000215167] [ENSMUST00000215307] [ENSMUST00000217472]

AlphaFold

Q8BH57

Predicted Effect

probably benign
Transcript: ENSMUST00000035099

SMART Domains

Protein: ENSMUSP00000035099
Gene: ENSMUSG00000032513

Domain	Start	End	E-Value	Type
Pfam:GRASP55_65	2	99	2.6e-22	PFAM
Pfam:GRASP55_65	68	204	4e-60	PFAM
low complexity region	212	224	N/A	INTRINSIC
low complexity region	329	361	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000036561
AA Change: D644G

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

SMART Domains

Protein: ENSMUSP00000042509
Gene: ENSMUSG00000032512
AA Change: D644G

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

noncoding transcript
Transcript: ENSMUST00000213230

Predicted Effect

probably benign
Transcript: ENSMUST00000215167

Predicted Effect

probably damaging
Transcript: ENSMUST00000215307
AA Change: D630G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217429

Predicted Effect

probably benign
Transcript: ENSMUST00000217472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217492

Coding Region Coverage

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	T	5: 104,961,186	V415D	possibly damaging	Het
Adcy3	C	T	12: 4,212,118	A1056V	probably damaging	Het
Adcy5	G	A	16: 35,272,098	A610T	probably damaging	Het
Arhgap21	G	A	2: 20,880,002	T788I	probably benign	Het
Asic1	T	C	15: 99,694,686		probably benign	Het
Cdhr4	T	A	9: 107,993,000	M68K	probably benign	Het
Cdhr5	G	T	7: 141,269,981	T637K	probably damaging	Het
Corin	A	T	5: 72,372,146	C289S	probably damaging	Het
Cpne4	T	C	9: 104,686,502	V26A	probably damaging	Het
Csmd1	T	C	8: 16,211,759	D908G	probably null	Het
Cyp2c29	A	G	19: 39,307,620	D126G	probably damaging	Het
Ddx42	G	A	11: 106,239,160	S426N	probably benign	Het
Dnah1	C	T	14: 31,305,001	V689M	possibly damaging	Het
Dtwd1	A	G	2: 126,164,795	T246A	probably damaging	Het
Fbn1	A	T	2: 125,363,969	M1036K	probably damaging	Het
Fbxo10	T	C	4: 45,048,527	N536S	probably benign	Het
Gnal	G	A	18: 67,217,208		probably benign	Het
Gns	A	G	10: 121,390,693	T416A	probably benign	Het
Heatr5b	G	A	17: 78,817,514	T603I	probably damaging	Het
Hsp90b1	T	A	10: 86,691,684		probably benign	Het
Krt23	C	T	11: 99,493,010	G19R	probably benign	Het
Lama2	C	T	10: 27,138,960	R1584H	probably benign	Het
Lmbr1l	C	T	15: 98,917,891	V11M	probably damaging	Het
Man1a2	T	C	3: 100,582,131	K511E	possibly damaging	Het
Mrgpra3	C	A	7: 47,589,456	V241F	possibly damaging	Het
Myh3	A	G	11: 67,082,924	D141G	probably benign	Het
Mylk2	G	A	2: 152,915,136	C277Y	probably damaging	Het
Myo3b	A	T	2: 70,238,829	T471S	probably damaging	Het
Naip1	A	G	13: 100,425,588	V1023A	probably benign	Het
Olfm5	T	A	7: 104,154,231	T342S	probably benign	Het
Olfr1510	A	G	14: 52,410,054	F273L	probably benign	Het
Olfr38	T	A	6: 42,762,460	M136K	probably damaging	Het
Pglyrp4	T	C	3: 90,735,603	F263L	probably benign	Het
Plekhh2	A	T	17: 84,599,180	T1148S	possibly damaging	Het
Prrc2b	T	C	2: 32,191,501		probably benign	Het
Rbm28	G	T	6: 29,138,618	D398E	possibly damaging	Het
Rnf220	A	G	4: 117,273,327	F234L	probably benign	Het
Sele	T	C	1: 164,053,093	S415P	probably benign	Het
Shpk	T	C	11: 73,203,995	L79P	probably damaging	Het
Slc35f4	C	T	14: 49,306,246	A148T	probably damaging	Het
Slc6a20a	G	A	9: 123,660,619	P120S	possibly damaging	Het
Slc8a2	A	G	7: 16,157,156	E701G	possibly damaging	Het
Slco1a1	T	A	6: 141,940,039	I87F	possibly damaging	Het
Srebf1	T	G	11: 60,202,824	D739A	probably damaging	Het
Thg1l	A	G	11: 45,950,228	Y175H	probably benign	Het
Traf3ip2	G	A	10: 39,654,479	V540M	probably damaging	Het
Zbtb1	A	T	12: 76,386,597	K452N	probably damaging	Het
Zfhx2	C	T	14: 55,062,894	G2467R	probably damaging	Het
Zfp334	A	T	2: 165,381,723	Y133*	probably null	Het

Other mutations in Wdr48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Wdr48	APN	9	119905390	missense	probably damaging	1.00
IGL02005:Wdr48	APN	9	119905389	missense	probably damaging	1.00
IGL02217:Wdr48	APN	9	119909535	missense	probably benign	0.01
IGL02416:Wdr48	APN	9	119924760	missense	probably damaging	0.98
IGL03198:Wdr48	APN	9	119912413	missense	probably benign	0.01
R0005:Wdr48	UTSW	9	119909434	missense	probably benign	0.01
R0109:Wdr48	UTSW	9	119918568	splice site	probably benign
R1753:Wdr48	UTSW	9	119924247	nonsense	probably null
R1829:Wdr48	UTSW	9	119904330	missense	probably benign	0.03
R1837:Wdr48	UTSW	9	119905416	missense	probably damaging	0.99
R1881:Wdr48	UTSW	9	119909540	missense	probably benign	0.00
R1916:Wdr48	UTSW	9	119912417	missense	probably benign	0.01
R2039:Wdr48	UTSW	9	119909387	missense	probably damaging	1.00
R2421:Wdr48	UTSW	9	119902404	missense	probably damaging	1.00
R3031:Wdr48	UTSW	9	119924110	missense	probably benign	0.02
R3719:Wdr48	UTSW	9	119907131	missense	probably damaging	1.00
R6014:Wdr48	UTSW	9	119924709	missense	probably damaging	1.00
R6054:Wdr48	UTSW	9	119907777	missense	probably damaging	1.00
R6182:Wdr48	UTSW	9	119924766	missense	probably damaging	1.00
R6285:Wdr48	UTSW	9	119920610	missense	probably damaging	1.00
R6434:Wdr48	UTSW	9	119916813	missense	possibly damaging	0.94
R7167:Wdr48	UTSW	9	119907789	critical splice donor site	probably null
R7282:Wdr48	UTSW	9	119911081	missense	probably damaging	1.00
R7567:Wdr48	UTSW	9	119916828	missense	possibly damaging	0.66
R7912:Wdr48	UTSW	9	119904339	missense	probably damaging	1.00
R8373:Wdr48	UTSW	9	119905494	missense	probably damaging	1.00
R8932:Wdr48	UTSW	9	119911076	missense	probably damaging	1.00
R9183:Wdr48	UTSW	9	119920664	missense	possibly damaging	0.59
R9390:Wdr48	UTSW	9	119917179	missense	probably benign
R9567:Wdr48	UTSW	9	119912388	missense	probably benign

Posted On

2015-04-16