Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01700:Wdr24'

104441

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr24

Ensembl Gene

ENSMUSG00000025737

Gene Name

WD repeat domain 24

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01700

Quality Score

Status

Chromosome

Chromosomal Location

25823627-25828730 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25825828 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 219 (D219G)

Ref Sequence

ENSEMBL: ENSMUSP00000026833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026832] [ENSMUST00000026833] [ENSMUST00000044911] [ENSMUST00000045692] [ENSMUST00000123582] [ENSMUST00000133595]

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 damaging
Transcript: ENSMUST00000026833
AA Change: D219G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026833
Gene: ENSMUSG00000025737
AA Change: D219G

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: ENSMUST00000044911

SMART Domains

Protein: ENSMUSP00000040431
Gene: ENSMUSG00000039615

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
TPR	27	60	2.43e1	SMART
TPR	61	94	1.48e-7	SMART
TPR	95	128	4.52e-3	SMART
low complexity region	168	180	N/A	INTRINSIC
Ubox	231	294	1.27e-28	SMART

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

noncoding transcript
Transcript: ENSMUST00000123560

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: ENSMUST00000160829

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160349

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,280,390	M1778L	probably benign	Het
Aldh6a1	C	T	12: 84,439,538	C202Y	probably damaging	Het
Ankrd36	A	G	11: 5,632,198	T276A	probably benign	Het
Ankrd55	T	C	13: 112,381,168	I556T	probably benign	Het
Aqp4	A	G	18: 15,399,865	I57T	probably benign	Het
Atp1a1	T	C	3: 101,594,258	D43G	possibly damaging	Het
Cyld	G	A	8: 88,707,099	R172H	probably damaging	Het
Diexf	G	A	1: 193,118,265	P416S	probably damaging	Het
Ear2	A	T	14: 44,103,259	R125*	probably null	Het
Efcab9	T	C	11: 32,527,451	R24G	probably damaging	Het
F7	C	A	8: 13,028,685	Q39K	probably benign	Het
Galntl6	A	T	8: 57,958,460		probably benign	Het
Kcnj5	A	G	9: 32,322,629	V130A	probably damaging	Het
Magee2	A	G	X: 104,855,968	I359T	possibly damaging	Het
Myh1	T	G	11: 67,211,412	I843S	probably damaging	Het
Nfat5	T	A	8: 107,339,130	M98K	probably damaging	Het
Nrip3	T	A	7: 109,761,867	N200I	possibly damaging	Het
Olfr818	A	T	10: 129,945,941	N40K	probably damaging	Het
Phkb	A	T	8: 86,017,465	Q581L	probably benign	Het
Plxdc2	T	C	2: 16,512,115	V69A	probably benign	Het
Pou3f1	G	T	4: 124,658,857	W384L	probably damaging	Het
Prrc2a	G	A	17: 35,150,667	S1890L	possibly damaging	Het
Psmc1	C	A	12: 100,113,078	P27H	probably damaging	Het
Pvr	C	A	7: 19,909,232	A359S	probably benign	Het
Rasal1	A	T	5: 120,676,817	I711F	probably benign	Het
Ror1	C	T	4: 100,409,771	A223V	probably damaging	Het
Slc22a16	A	T	10: 40,603,908	I638L	unknown	Het
Slfn10-ps	C	T	11: 83,029,112		noncoding transcript	Het
Sptbn4	A	G	7: 27,404,268	L1176P	probably damaging	Het
Usp21	A	T	1: 171,283,402	F421I	probably damaging	Het
Vmn1r61	T	A	7: 5,611,203	R37S	possibly damaging	Het
Vps13a	G	A	19: 16,744,857	R364*	probably null	Het
Vps29	A	G	5: 122,362,867	Y165C	probably damaging	Het
Wdfy4	T	C	14: 33,020,238		probably benign	Het
Xpo1	T	C	11: 23,276,422		probably benign	Het
Zfp831	C	A	2: 174,644,918	T462K	possibly damaging	Het
Zswim5	T	C	4: 116,986,461		probably benign	Het

Other mutations in Wdr24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Wdr24	APN	17	25826621	missense	probably benign	0.20
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
R6114: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
X0022:Wdr24	UTSW	17	25824272	missense	probably damaging	0.99
Z1177:Wdr24	UTSW	17	25825687	missense	probably benign	0.29

Posted On

2014-01-21