Mutagenetix > Incidental Mutation

Incidental Mutation 'R6014:Wdr48'

479925

Institutional Source

Beutler Lab

Gene Symbol

Wdr48

Ensembl Gene

ENSMUSG00000032512

Gene Name

WD repeat domain 48

Synonyms

Uaf1, 8430408H12Rik

MMRRC Submission

044190-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6014 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119723961-119755652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 119753775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 646 (V646F)

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: V646F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042509
Gene: ENSMUSG00000032512
AA Change: V646F

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 benign
Transcript: ENSMUST00000215307
AA Change: V632F

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216349

Predicted Effect

probably benign
Transcript: ENSMUST00000217472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217492

Meta Mutation Damage Score

0.1391

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	A	T	2: 35,244,881 (GRCm39)	M157K	probably benign	Het
A2ml1	C	T	6: 128,548,948 (GRCm39)	C278Y	probably damaging	Het
Abcc2	A	T	19: 43,815,174 (GRCm39)	Q1187L	probably benign	Het
Adcy9	A	T	16: 4,236,683 (GRCm39)	Y6N	probably damaging	Het
Adh1	T	C	3: 137,992,559 (GRCm39)	I225T	probably benign	Het
Akap11	A	T	14: 78,749,939 (GRCm39)	I816K	probably benign	Het
Ap1b1	T	A	11: 4,969,364 (GRCm39)	M240K	possibly damaging	Het
Apex1	A	T	14: 51,162,982 (GRCm39)	T17S	probably benign	Het
Arhgap21	C	T	2: 20,886,616 (GRCm39)	G26D	probably damaging	Het
Bahcc1	A	G	11: 120,180,615 (GRCm39)	Y2613C	probably benign	Het
Baz1b	C	T	5: 135,246,248 (GRCm39)	R566W	probably damaging	Het
Casp8ap2	A	T	4: 32,641,400 (GRCm39)	Y818F	probably damaging	Het
Col3a1	T	A	1: 45,360,739 (GRCm39)	C56*	probably null	Het
Coro2a	G	A	4: 46,542,261 (GRCm39)	P371S	probably damaging	Het
Cyp2a22	T	A	7: 26,638,605 (GRCm39)		probably null	Het
Dpysl3	T	A	18: 43,494,132 (GRCm39)	I183F	probably damaging	Het
Drc1	A	T	5: 30,502,993 (GRCm39)	N172I	probably damaging	Het
Dst	T	C	1: 34,303,915 (GRCm39)	Y1378H	probably damaging	Het
Dync2i2	C	T	2: 29,921,763 (GRCm39)	A533T	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epb41l3	A	T	17: 69,590,955 (GRCm39)	T91S	probably damaging	Het
Exoc4	T	C	6: 33,452,932 (GRCm39)	V474A	probably benign	Het
Fam229b	G	A	10: 38,994,989 (GRCm39)	T56I	probably damaging	Het
Gfm2	A	G	13: 97,288,169 (GRCm39)		probably null	Het
Git2	C	T	5: 114,871,938 (GRCm39)	E152K	probably benign	Het
Golt1b	T	A	6: 142,341,943 (GRCm39)	I109N	probably damaging	Het
Grid2ip	T	A	5: 143,373,578 (GRCm39)	M783K	possibly damaging	Het
Inpp5a	A	G	7: 139,154,898 (GRCm39)	Y339C	probably damaging	Het
Isoc2a	T	C	7: 4,894,625 (GRCm39)	S103P	probably damaging	Het
Itih4	C	A	14: 30,614,586 (GRCm39)	Q483K	probably benign	Het
Kansl2	A	G	15: 98,418,197 (GRCm39)		probably null	Het
Kdm5d	G	A	Y: 921,528 (GRCm39)	A509T	probably benign	Het
Krt13	A	T	11: 100,008,437 (GRCm39)	D433E	unknown	Het
Lat2	C	T	5: 134,632,308 (GRCm39)	V142M	probably damaging	Het
Lemd1	A	C	1: 132,184,463 (GRCm39)	*102S	probably null	Het
Lrfn2	T	C	17: 49,376,934 (GRCm39)	L5P	possibly damaging	Het
Lrrc4c	T	G	2: 97,459,557 (GRCm39)		probably null	Het
Lypla1	T	A	1: 4,878,594 (GRCm39)		probably null	Het
Magi2	G	A	5: 20,816,091 (GRCm39)	G744R	probably damaging	Het
Myh14	T	A	7: 44,274,502 (GRCm39)	E948V	probably null	Het
Myo5a	C	A	9: 75,074,489 (GRCm39)	Y799*	probably null	Het
Nacc1	A	C	8: 85,401,700 (GRCm39)	M371R	possibly damaging	Het
Nlrp5	T	G	7: 23,109,372 (GRCm39)	M106R	probably benign	Het
Oas1h	C	T	5: 121,005,229 (GRCm39)	H226Y	possibly damaging	Het
Obscn	A	C	11: 58,929,690 (GRCm39)	I5175R	probably damaging	Het
Pcdh7	T	A	5: 57,878,497 (GRCm39)	I684N	probably damaging	Het
Pcdhb3	T	A	18: 37,435,706 (GRCm39)	N557K	probably damaging	Het
Pde3b	T	C	7: 114,015,675 (GRCm39)	L297S	probably damaging	Het
Pigv	G	T	4: 133,392,740 (GRCm39)	H143Q	probably benign	Het
Ptk2	T	G	15: 73,176,293 (GRCm39)	Y251S	possibly damaging	Het
Ralgds	A	G	2: 28,433,673 (GRCm39)	N219S	probably damaging	Het
Sardh	C	A	2: 27,087,540 (GRCm39)		probably null	Het
Serpina3b	A	T	12: 104,097,356 (GRCm39)	K212N	possibly damaging	Het
Sh3bp2	A	G	5: 34,716,971 (GRCm39)	N461D	probably benign	Het
Shisa2	A	T	14: 59,867,357 (GRCm39)	Q203L	probably damaging	Het
Shmt1	C	A	11: 60,688,383 (GRCm39)	G255V	probably damaging	Het
Socs1	T	A	16: 10,602,357 (GRCm39)	I127F	possibly damaging	Het
Srcap	A	T	7: 127,137,922 (GRCm39)	T1091S	probably benign	Het
Syt14	A	G	1: 192,613,003 (GRCm39)	I599T	probably damaging	Het
Tep1	A	T	14: 51,084,457 (GRCm39)	N907K	probably benign	Het
Themis2	A	G	4: 132,513,291 (GRCm39)	Y312H	probably benign	Het
Tubgcp5	T	G	7: 55,473,357 (GRCm39)	S812A	probably benign	Het
Ush2a	A	T	1: 188,582,237 (GRCm39)	I3767F	probably damaging	Het
Usp40	T	A	1: 87,907,738 (GRCm39)	E626V	probably damaging	Het
Utrn	T	C	10: 12,566,620 (GRCm39)	R1181G	probably benign	Het
Vmn2r117	T	A	17: 23,698,535 (GRCm39)	I13F	probably damaging	Het
Wdr64	T	C	1: 175,633,556 (GRCm39)	F936L	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
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
R9567:Wdr48	UTSW	9	119,741,454 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGCACTCTGTCATCAGGC -3'
(R):5'- GTCACCAAATAGGCCGGTTG -3'

Sequencing Primer
(F):5'- TCATCAGGCAGGGTTGAGC -3'
(R):5'- CAAATAGGCCGGTTGGAGGTC -3'

Posted On

2017-06-26