Mutagenetix > Incidental Mutation

Incidental Mutation 'R6114:Wdr24'

485046

Institutional Source

Beutler Lab

Gene Symbol

Wdr24

Ensembl Gene

ENSMUSG00000025737

Gene Name

WD repeat domain 24

Synonyms

MMRRC Submission

044263-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6114 (G1)

Quality Score

184.009

Status

Validated

Chromosome

Chromosomal Location

25823627-25828730 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25824605 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 134 (H134Y)

Ref Sequence

ENSEMBL: ENSMUSP00000026833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026832] [ENSMUST00000026833] [ENSMUST00000045692] [ENSMUST00000123582] [ENSMUST00000133595]

AlphaFold

Q8CFJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000026832

SMART Domains

Protein: ENSMUSP00000026832
Gene: ENSMUSG00000025736

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
JmjC	140	271	5.27e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000026833
AA Change: H134Y

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

SMART Domains

Protein: ENSMUSP00000026833
Gene: ENSMUSG00000025737
AA Change: H134Y

Domain	Start	End	E-Value	Type
Blast:WD40	19	53	6e-8	BLAST
WD40	68	103	2.13e1	SMART
WD40	109	149	5.77e-5	SMART
WD40	152	192	4.48e-2	SMART
WD40	196	236	1.48e-11	SMART
WD40	244	282	1.66e0	SMART
WD40	286	327	2.48e0	SMART
low complexity region	605	623	N/A	INTRINSIC
Blast:RING	743	780	2e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000045692

SMART Domains

Protein: ENSMUSP00000048562
Gene: ENSMUSG00000025738

Domain	Start	End	E-Value	Type
low complexity region	49	65	N/A	INTRINSIC
low complexity region	70	89	N/A	INTRINSIC
Blast:FBOX	98	137	2e-14	BLAST
LRR	241	266	1.32e1	SMART
LRR	267	291	1.61e2	SMART
LRR	293	318	1.76e2	SMART
LRR	319	344	3.21e-4	SMART
LRR	345	370	7.67e-2	SMART
LRR	371	396	6.13e-1	SMART
LRR	421	446	3.52e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123582

SMART Domains

Protein: ENSMUSP00000119840
Gene: ENSMUSG00000025736

Domain	Start	End	E-Value	Type
low complexity region	158	172	N/A	INTRINSIC
low complexity region	194	208	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123692

Predicted Effect

probably benign
Transcript: ENSMUST00000133595

SMART Domains

Protein: ENSMUSP00000122744
Gene: ENSMUSG00000025736

Domain	Start	End	E-Value	Type
transmembrane domain	55	74	N/A	INTRINSIC
JmjC	185	316	5.27e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144589

Predicted Effect

probably benign
Transcript: ENSMUST00000152434

SMART Domains

Protein: ENSMUSP00000119378
Gene: ENSMUSG00000025736

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160829

Meta Mutation Damage Score

0.0711

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

94% (60/64)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	C	A	14: 68,571,803	V237L	probably benign	Het
Aff1	T	C	5: 103,842,297	S878P	probably damaging	Het
Ahcy	A	C	2: 155,062,159	L386R	probably damaging	Het
Ank2	T	C	3: 127,011,051	N607D	probably damaging	Het
Arid5b	T	C	10: 68,097,744	D776G	possibly damaging	Het
Art4	T	A	6: 136,857,213	T11S	unknown	Het
Blm	T	C	7: 80,513,487	T39A	probably damaging	Het
Cabin1	T	A	10: 75,747,971	M221L	probably benign	Het
Cacna1c	T	C	6: 118,596,140	T1675A	probably benign	Het
Cacnb2	A	T	2: 14,975,201	H285L	possibly damaging	Het
Cchcr1	A	G	17: 35,525,330	E339G	probably damaging	Het
Cd14	A	G	18: 36,725,953	W150R	probably damaging	Het
Cep162	A	G	9: 87,203,710	I1187T	probably benign	Het
Cntnap4	A	G	8: 112,841,753	H807R	probably damaging	Het
Copb1	T	A	7: 114,246,801	H178L	probably benign	Het
Cpxm2	A	G	7: 132,154,306	V103A	probably benign	Het
Egfr	A	G	11: 16,904,374	T849A	possibly damaging	Het
Endou	T	A	15: 97,713,876	K294*	probably null	Het
Fam208b	G	A	13: 3,590,081	T352M	probably damaging	Het
Gm884	T	A	11: 103,617,791		probably benign	Het
Hoxd9	A	G	2: 74,699,365	N322D	probably damaging	Het
Hsph1	C	A	5: 149,627,387	V416L	possibly damaging	Het
Igkv4-78	T	A	6: 69,059,759	T97S	possibly damaging	Het
Itga10	G	T	3: 96,649,035	C162F	probably damaging	Het
Lmod2	A	G	6: 24,603,692	E222G	probably damaging	Het
Lpar5	A	G	6: 125,081,676	N120S	probably damaging	Het
Lrrk2	A	G	15: 91,747,826	I1318V	probably benign	Het
Lst1	T	C	17: 35,188,360	T11A	possibly damaging	Het
Mfn1	C	A	3: 32,563,836	A106D	probably damaging	Het
Ms4a12	G	T	19: 11,215,290	N227K	probably benign	Het
Nr1h4	T	A	10: 89,478,816	N273Y	possibly damaging	Het
Nrd1	A	T	4: 109,044,585	K617M	probably damaging	Het
Olfr355	A	T	2: 36,927,689	C142S	possibly damaging	Het
Olfr516	A	T	7: 108,845,386	M208K	possibly damaging	Het
Olfr771	T	A	10: 129,160,333	H217L	probably benign	Het
Pcdhgc3	C	G	18: 37,807,872	T442R	probably benign	Het
Pcnx2	T	C	8: 125,773,947	N1468S	probably damaging	Het
Pde2a	A	T	7: 101,511,112		probably null	Het
Pitx2	C	G	3: 129,204,413		probably null	Het
Reck	T	A	4: 43,922,895	I390N	probably damaging	Het
Rora	A	G	9: 69,371,323	N254S	probably benign	Het
Samd4b	A	G	7: 28,522,792		probably null	Het
Scn8a	A	G	15: 101,040,596	T1949A	probably damaging	Het
Slc22a15	A	T	3: 101,860,852	Y346*	probably null	Het
Slc24a5	A	G	2: 125,083,092	T218A	probably benign	Het
Slc38a10	G	A	11: 120,129,312	Q305*	probably null	Het
Slc45a4	G	A	15: 73,605,604	P28S	probably damaging	Het
Smyd5	A	T	6: 85,440,262		probably benign	Het
Sox8	T	C	17: 25,567,520	D403G	probably damaging	Het
Stx7	A	G	10: 24,184,985		probably null	Het
Svil	T	C	18: 5,108,639	S1522P	probably damaging	Het
Sycp2	G	C	2: 178,348,245	R1403G	probably benign	Het
Tcf25	A	T	8: 123,384,375	K192M	probably damaging	Het
Tecpr1	C	T	5: 144,204,640	G804S	possibly damaging	Het
Teddm1a	C	G	1: 153,891,868	S26C	probably damaging	Het
Usp13	C	T	3: 32,854,669	P155S	probably damaging	Het
Usp17lb	T	A	7: 104,840,364	D451V	possibly damaging	Het
Vmn1r173	A	G	7: 23,702,829	N163S	possibly damaging	Het
Vmn2r103	G	T	17: 19,812,325	C787F	probably damaging	Het
Vmn2r106	G	A	17: 20,268,376	P587L	probably benign	Het
Zbtb40	T	A	4: 136,988,691	I988F	probably damaging	Het
Zfp536	A	T	7: 37,479,736	I84N	probably damaging	Het
Zfp651	T	A	9: 121,765,595	F540Y	probably damaging	Het

Other mutations in Wdr24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Wdr24	APN	17	25826621	missense	probably benign	0.20
IGL01700:Wdr24	APN	17	25825828	missense	probably damaging	1.00
IGL01763:Wdr24	APN	17	25826190	missense	probably benign	0.20
IGL02567:Wdr24	APN	17	25824348	missense	probably damaging	0.99
IGL03100:Wdr24	APN	17	25825707	missense	possibly damaging	0.47
R0012:Wdr24	UTSW	17	25827113	missense	probably benign
R0799:Wdr24	UTSW	17	25826128	missense	probably damaging	1.00
R1015:Wdr24	UTSW	17	25828238	missense	probably benign	0.12
R1276:Wdr24	UTSW	17	25827467	missense	probably benign	0.02
R1297:Wdr24	UTSW	17	25827348	missense	possibly damaging	0.90
R1934:Wdr24	UTSW	17	25824266	missense	possibly damaging	0.89
R2030:Wdr24	UTSW	17	25826043	missense	probably benign	0.38
R2069:Wdr24	UTSW	17	25826282	missense	probably damaging	1.00
R2508:Wdr24	UTSW	17	25824299	missense	possibly damaging	0.52
R4601:Wdr24	UTSW	17	25828207	splice site	probably null
R4604:Wdr24	UTSW	17	25828505	missense	probably damaging	1.00
R4894:Wdr24	UTSW	17	25826127	missense	probably damaging	1.00
R5068:Wdr24	UTSW	17	25825779	missense	possibly damaging	0.77
R5088:Wdr24	UTSW	17	25828207	splice site	probably null
R5104:Wdr24	UTSW	17	25824591	missense	probably damaging	1.00
R5498:Wdr24	UTSW	17	25824561	missense	probably damaging	1.00
R5719:Wdr24	UTSW	17	25828340	critical splice donor site	probably null
R5892:Wdr24	UTSW	17	25827986	missense	probably benign	0.00
R5975:Wdr24	UTSW	17	25827128	missense	probably benign	0.37
R6084:Wdr24	UTSW	17	25824530	missense	probably damaging	0.99
R6106:Wdr24	UTSW	17	25824605	missense	probably benign
R6116:Wdr24	UTSW	17	25824605	missense	probably benign
R6165:Wdr24	UTSW	17	25826421	missense	probably benign	0.18
R6175:Wdr24	UTSW	17	25826578	missense	probably damaging	1.00
R6331:Wdr24	UTSW	17	25825676	missense	possibly damaging	0.61
R6548:Wdr24	UTSW	17	25827925	missense	probably damaging	0.99
R6984:Wdr24	UTSW	17	25828235	missense	possibly damaging	0.93
R7485:Wdr24	UTSW	17	25826127	missense	probably damaging	1.00
R7583:Wdr24	UTSW	17	25825830	missense	probably null	1.00
R7770:Wdr24	UTSW	17	25827096	missense	probably benign	0.04
R8086:Wdr24	UTSW	17	25826127	missense	probably damaging	1.00
R8164:Wdr24	UTSW	17	25825949	splice site	probably null
R9210:Wdr24	UTSW	17	25824498	missense	probably benign	0.00
R9212:Wdr24	UTSW	17	25824498	missense	probably benign	0.00
R9567:Wdr24	UTSW	17	25824216	missense	probably damaging	0.98
R9667:Wdr24	UTSW	17	25827327	missense	possibly damaging	0.55
X0022:Wdr24	UTSW	17	25824272	missense	probably damaging	0.99
Z1177:Wdr24	UTSW	17	25825687	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- CCATTGAGGAGGAGCAGTTC -3'
(R):5'- TCTGATGGACACACATTTCAGC -3'

Sequencing Primer
(F):5'- CTCAACCTGAGCTGTGCTGATG -3'
(R):5'- GACACACATTTCAGCCTGCCTG -3'

Posted On

2017-08-16