Mutagenetix > Incidental Mutations

Incidental Mutation 'R6331:Wdr24'

510941

Institutional Source

Beutler Lab

Gene Symbol

Wdr24

Ensembl Gene

ENSMUSG00000025737

Gene Name

WD repeat domain 24

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6331 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25823627-25828730 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 25825676 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 168 (D168E)

Ref Sequence

ENSEMBL: ENSMUSP00000026833 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000026833
AA Change: D168E

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026833
Gene: ENSMUSG00000025737
AA Change: D168E

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: ENSMUST00000160275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160829

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	G	A	18: 12,180,514	R228H	probably damaging	Het
9930021J03Rik	C	T	19: 29,717,747	V1449I	probably benign	Het
A2ml1	T	C	6: 128,552,236	D981G	probably damaging	Het
Abcc1	C	A	16: 14,465,056	A1132D	probably damaging	Het
Adamts12	A	G	15: 11,241,433	T364A	probably damaging	Het
Ahnak	A	T	19: 9,006,625	M1758L	probably benign	Het
Ak9	T	C	10: 41,382,829	V774A	probably damaging	Het
Ash1l	A	G	3: 89,007,865	E1934G	probably benign	Het
Atp2b2	C	T	6: 113,797,131	A341T	probably benign	Het
Bach2	G	T	4: 32,238,816		probably benign	Het
Ccdc102a	T	C	8: 94,911,516	T241A	probably benign	Het
Chd5	G	T	4: 152,382,408	R1627S	probably benign	Het
Clint1	T	C	11: 45,895,081	S322P	probably benign	Het
Dapk1	T	A	13: 60,729,442	C498*	probably null	Het
Diaph3	T	G	14: 86,866,540	S803R	probably damaging	Het
Dmp1	T	C	5: 104,207,125	L10P	probably damaging	Het
Gcc2	T	C	10: 58,271,465	V741A	probably benign	Het
Gldn	A	G	9: 54,286,878	M119V	probably benign	Het
Gucy1b1	A	G	3: 82,034,411	S574P	possibly damaging	Het
Hapln4	T	A	8: 70,084,423		probably benign	Het
Hars	A	G	18: 36,771,332	V209A	probably benign	Het
Htt	T	A	5: 34,895,887	F2521L	possibly damaging	Het
Kif14	A	G	1: 136,515,986	D1299G	probably null	Het
Krt25	T	A	11: 99,317,427	E325V	probably damaging	Het
Lcmt1	T	C	7: 123,378,182		probably benign	Het
Lrp1b	A	T	2: 40,803,209	N3266K	probably damaging	Het
Marc2	A	G	1: 184,819,328	S304P	probably damaging	Het
Mctp1	T	A	13: 77,020,863		probably null	Het
Myo5b	G	A	18: 74,616,993	A176T	probably damaging	Het
Myom3	A	G	4: 135,776,377	N379S	possibly damaging	Het
Nbea	A	T	3: 56,000,616	D1358E	possibly damaging	Het
Nod1	T	C	6: 54,924,983	E939G	probably damaging	Het
Obox1	A	G	7: 15,555,369	R70G	probably benign	Het
Olfr1024	T	C	2: 85,904,216	I279M	probably benign	Het
Olfr1239	C	T	2: 89,418,351	G21S	probably benign	Het
Olfr1341	A	G	4: 118,709,947	E180G	probably benign	Het
Olfr272	A	G	4: 52,911,399	Y132H	probably damaging	Het
Otof	T	C	5: 30,371,935	D1745G	possibly damaging	Het
Pklr	A	G	3: 89,137,355	I47V	probably damaging	Het
Pms2	T	A	5: 143,914,633	S123T	possibly damaging	Het
Pnpla2	T	C	7: 141,459,285	S337P	probably damaging	Het
Ptgfrn	A	C	3: 101,045,620	V766G	possibly damaging	Het
Ptpn11	T	A	5: 121,144,653	H419L	probably damaging	Het
Rims3	T	A	4: 120,883,153	V99E	probably damaging	Het
Samd9l	A	G	6: 3,376,361	V300A	probably damaging	Het
Sdad1	T	C	5: 92,303,930	D144G	probably damaging	Het
Siglecg	T	C	7: 43,408,754	Y22H	possibly damaging	Het
Slc39a1	A	G	3: 90,252,281	K305R	possibly damaging	Het
Slc5a4a	A	G	10: 76,178,200	R414G	probably damaging	Het
Smg1	T	C	7: 118,154,277		probably benign	Het
Tbc1d9b	C	T	11: 50,131,497	A20V	possibly damaging	Het
Tgfb3	G	T	12: 86,063,864	D237E	probably benign	Het
Tle6	A	G	10: 81,595,239	S234P	probably benign	Het
Tnrc6b	A	G	15: 80,879,614	N439S	probably benign	Het
Trim33	T	C	3: 103,341,609	S783P	probably benign	Het
Ttn	A	T	2: 76,802,354	Y12373N	probably damaging	Het
Tube1	G	A	10: 39,134,101	V7I	probably benign	Het
Tufm	T	C	7: 126,489,238	V265A	probably benign	Het
Uhrf1bp1	T	C	17: 27,893,201	I1150T	probably benign	Het
Usp32	T	C	11: 84,986,576	H1550R	possibly damaging	Het
Usp33	A	T	3: 152,376,250	M546L	probably damaging	Het
Uspl1	C	A	5: 149,214,287	Q752K	probably benign	Het
Vmn1r20	A	G	6: 57,431,670		probably null	Het
Vmn1r201	T	C	13: 22,475,351	F245S	probably damaging	Het
Vmn2r3	A	G	3: 64,278,761	S168P	probably damaging	Het
Zfp646	C	T	7: 127,883,681	P1677S	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
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
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
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'- TGAAACTACCTGGCATACTCTG -3'
(R):5'- AGGCATCGTTTAGCCTCCAG -3'

Sequencing Primer
(F):5'- GGCATACTCTGGCCTAGGC -3'
(R):5'- GTTTAGCCTCCAGCCTTAAGG -3'

Posted On

2018-04-02