Mutagenetix > Incidental Mutation

Incidental Mutation 'R5892:Wdr24'

457269

Institutional Source

Beutler Lab

Gene Symbol

Wdr24

Ensembl Gene

ENSMUSG00000025737

Gene Name

WD repeat domain 24

Synonyms

MMRRC Submission

044093-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5892 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

25823627-25828730 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25827986 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 671 (Q671L)

Ref Sequence

ENSEMBL: ENSMUSP00000026833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026832] [ENSMUST00000026833] [ENSMUST00000044911] [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: Q671L

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

SMART Domains

Protein: ENSMUSP00000026833
Gene: ENSMUSG00000025737
AA Change: Q671L

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

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: ENSMUST00000160275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160829

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160349

Meta Mutation Damage Score

0.0854

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	G	T	5: 99,979,265		probably benign	Het
Abcb11	C	T	2: 69,261,500	A893T	probably damaging	Het
Adtrp	A	T	13: 41,828,206	N30K	probably benign	Het
Alms1	T	A	6: 85,620,903	S904T	probably damaging	Het
Cep170	T	A	1: 176,755,387		probably null	Het
Cntnap3	A	G	13: 64,799,180	V145A	probably damaging	Het
Dclre1a	T	C	19: 56,547,140	E4G	probably benign	Het
Depdc1a	G	C	3: 159,526,669	A686P	probably damaging	Het
Dnah7b	T	C	1: 46,337,593		probably null	Het
Enox1	A	G	14: 77,486,017		probably benign	Het
Fam107b	A	G	2: 3,778,564	E268G	probably damaging	Het
Fer1l6	A	G	15: 58,564,068	S437G	probably benign	Het
Flnb	C	A	14: 7,907,183	T1252K	probably damaging	Het
Fubp1	A	G	3: 152,218,314		probably benign	Het
Gm20402	G	A	3: 52,268,949	A50T	probably benign	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Gzmk	C	T	13: 113,173,922		probably null	Het
Ino80	A	T	2: 119,439,547		probably benign	Het
Ints8	T	C	4: 11,223,813	T677A	probably damaging	Het
Kat6a	A	G	8: 22,938,289	E1220G	probably damaging	Het
Lrfn5	A	G	12: 61,843,418	T498A	probably damaging	Het
Lrp2	T	A	2: 69,442,776	T4043S	probably benign	Het
Malrd1	A	G	2: 15,614,267	N314S	probably benign	Het
Mfsd1	A	G	3: 67,589,829		probably null	Het
Muc1	C	T	3: 89,230,993	P381S	probably benign	Het
Myh2	A	T	11: 67,185,176	K730*	probably null	Het
Nat3	T	A	8: 67,547,938	N156K	probably benign	Het
Nelfe	T	C	17: 34,854,669		probably benign	Het
Nlrp1a	A	T	11: 71,099,645	L927Q	probably damaging	Het
P4ha2	A	G	11: 54,120,188	Y343C	probably damaging	Het
Pclo	A	T	5: 14,521,171	Q190L	probably damaging	Het
Pde8a	A	G	7: 81,295,691	N183S	probably damaging	Het
Plekha2	C	T	8: 25,052,365	V278I	probably benign	Het
Plekha6	G	C	1: 133,272,307	R208P	possibly damaging	Het
Plxnb1	T	C	9: 109,111,707	L1550P	probably damaging	Het
Ppox	C	T	1: 171,277,461	V385I	probably damaging	Het
Prdm16	T	C	4: 154,323,259	D1170G	possibly damaging	Het
Prmt5	A	T	14: 54,509,911	S470T	probably damaging	Het
Robo2	T	A	16: 73,895,780		probably benign	Het
Siglecg	G	A	7: 43,412,204		probably benign	Het
Slc30a5	T	C	13: 100,813,302	N367S	probably damaging	Het
Tex29	C	T	8: 11,854,288		probably benign	Het
Tmem117	T	A	15: 94,638,139	V18E	probably damaging	Het
Tmtc2	C	T	10: 105,413,505	M122I	probably benign	Het
Tpr	T	A	1: 150,407,400	N287K	probably benign	Het
Unc93b1	A	T	19: 3,943,632	D358V	probably damaging	Het
Vrk2	A	T	11: 26,534,372		probably benign	Het
Zfp110	C	T	7: 12,848,478	T351I	probably benign	Het
Zfp963	T	C	8: 69,743,377	D142G	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
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
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
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'- GAGGCAGACACAGCTTCATTAG -3'
(R):5'- GTAGGATGTGTACCAGTGCTCC -3'

Sequencing Primer
(F):5'- TTCATTAGCCCCGGTGGAC -3'
(R):5'- TCAGATGAGGGAACCAGC -3'

Posted On

2017-02-15