Mutagenetix > Incidental Mutation

Incidental Mutation 'R2391:Wdr90'

247778

Institutional Source

Beutler Lab

Gene Symbol

Wdr90

Ensembl Gene

ENSMUSG00000073434

Gene Name

WD repeat domain 90

Synonyms

3230401M21Rik

MMRRC Submission

040359-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R2391 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26063745-26080475 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26070429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 1104 (P1104L)

Ref Sequence

ENSEMBL: ENSMUSP00000135420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079461] [ENSMUST00000176923]

AlphaFold

Q6ZPG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000079461
AA Change: P1122L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078426
Gene: ENSMUSG00000073434
AA Change: P1122L

Domain	Start	End	E-Value	Type
low complexity region	32	53	N/A	INTRINSIC
Pfam:DUF667	60	183	5e-26	PFAM
Pfam:DUF667	210	271	3.7e-9	PFAM
low complexity region	381	396	N/A	INTRINSIC
WD40	478	519	5.94e0	SMART
WD40	522	565	3.2e0	SMART
WD40	572	612	3.3e1	SMART
WD40	687	725	1.15e1	SMART
WD40	728	766	5.75e-1	SMART
WD40	768	808	9.24e-4	SMART
WD40	811	850	4.13e0	SMART
WD40	853	892	4.62e-1	SMART
WD40	950	993	1.07e1	SMART
WD40	996	1035	5.75e-1	SMART
WD40	1040	1077	1.58e-2	SMART
WD40	1290	1334	5.23e-3	SMART
WD40	1337	1378	1.27e-1	SMART
WD40	1384	1419	1.83e2	SMART
WD40	1422	1469	3.08e0	SMART
WD40	1472	1509	9.9e0	SMART
WD40	1568	1607	9.02e-7	SMART
WD40	1610	1655	5.75e-1	SMART
WD40	1659	1697	2.98e-1	SMART
WD40	1700	1749	6.14e1	SMART
WD40	1850	1888	1.92e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176575

Predicted Effect

probably benign
Transcript: ENSMUST00000176678

Predicted Effect

probably damaging
Transcript: ENSMUST00000176923
AA Change: P1104L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135420
Gene: ENSMUSG00000073434
AA Change: P1104L

Domain	Start	End	E-Value	Type
low complexity region	32	53	N/A	INTRINSIC
Pfam:DUF667	60	252	5.1e-14	PFAM
low complexity region	363	378	N/A	INTRINSIC
WD40	460	501	5.94e0	SMART
WD40	504	547	3.2e0	SMART
WD40	554	594	3.3e1	SMART
WD40	669	707	1.15e1	SMART
WD40	710	748	5.75e-1	SMART
WD40	750	790	9.24e-4	SMART
WD40	793	832	4.13e0	SMART
WD40	835	874	4.62e-1	SMART
WD40	932	975	1.07e1	SMART
WD40	978	1017	5.75e-1	SMART
WD40	1022	1059	1.58e-2	SMART
WD40	1272	1316	5.23e-3	SMART
WD40	1319	1360	1.27e-1	SMART
WD40	1366	1401	1.83e2	SMART
WD40	1404	1451	3.08e0	SMART
WD40	1454	1491	9.9e0	SMART
WD40	1550	1589	9.02e-7	SMART
WD40	1592	1637	5.75e-1	SMART
WD40	1641	1679	2.98e-1	SMART
WD40	1682	1731	6.14e1	SMART
WD40	1832	1870	1.92e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177031

Meta Mutation Damage Score

0.1206

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	T	A	7: 115,703,461 (GRCm39)	D24E	probably damaging	Het
Abca4	A	G	3: 121,952,071 (GRCm39)	H689R	probably benign	Het
Acss3	T	G	10: 106,959,348 (GRCm39)	T33P	probably benign	Het
BC005537	T	A	13: 24,993,898 (GRCm39)	Y124*	probably null	Het
Capn2	T	C	1: 182,306,174 (GRCm39)	D524G	probably benign	Het
Catsperb	A	G	12: 101,590,965 (GRCm39)	Y1011C	probably damaging	Het
Cdk18	G	T	1: 132,043,212 (GRCm39)	Q438K	probably benign	Het
Cimap1d	A	T	10: 79,481,484 (GRCm39)	V15E	probably benign	Het
Ckap5	A	G	2: 91,416,214 (GRCm39)	M1047V	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dmbt1	T	A	7: 130,708,198 (GRCm39)	I1306N	probably damaging	Het
Emp2	A	T	16: 10,102,452 (GRCm39)	I120N	probably damaging	Het
Gm2888	A	T	14: 3,037,656 (GRCm38)	D216V	possibly damaging	Het
Naa16	T	A	14: 79,607,489 (GRCm39)	H287L	probably benign	Het
Olfm5	A	G	7: 103,810,041 (GRCm39)	S107P	probably benign	Het
Or10q3	G	T	19: 11,848,180 (GRCm39)	Y133*	probably null	Het
Or51e2	C	A	7: 102,391,581 (GRCm39)	V210F	possibly damaging	Het
Or6k8-ps1	T	C	1: 173,979,664 (GRCm39)	V194A	probably benign	Het
Ptpn2	A	T	18: 67,808,959 (GRCm39)		probably null	Het
Serpinb8	A	G	1: 107,534,799 (GRCm39)	D290G	probably damaging	Het
Sfmbt2	T	C	2: 10,450,504 (GRCm39)	Y260H	possibly damaging	Het
Slc6a20a	A	T	9: 123,493,686 (GRCm39)	V65E	probably damaging	Het
Spon1	C	T	7: 113,486,080 (GRCm39)	T210M	probably damaging	Het
Sugp1	T	C	8: 70,512,061 (GRCm39)		probably null	Het
Tas2r143	C	A	6: 42,377,810 (GRCm39)	H213Q	probably damaging	Het
Terf1	C	A	1: 15,875,963 (GRCm39)	S21*	probably null	Het
Trim12a	T	C	7: 103,956,138 (GRCm39)	E134G	probably damaging	Het
Trip12	TATACATACATACATACATACATACATACATAC	TATACATACATACATACATACATACATACATACATAC	1: 84,792,511 (GRCm39)		probably null	Het
Tssk5	T	C	15: 76,258,751 (GRCm39)	Y45C	probably benign	Het
Usp29	T	A	7: 6,966,770 (GRCm39)		probably null	Het
Wdfy4	A	T	14: 32,884,764 (GRCm39)	M46K	possibly damaging	Het
Znhit6	T	C	3: 145,300,413 (GRCm39)	S230P	probably damaging	Het

Other mutations in Wdr90

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Wdr90	APN	17	26,068,338 (GRCm39)	missense	probably damaging	1.00
IGL01118:Wdr90	APN	17	26,073,661 (GRCm39)	missense	probably damaging	1.00
IGL01964:Wdr90	APN	17	26,067,383 (GRCm39)	missense	probably benign
IGL02116:Wdr90	APN	17	26,078,466 (GRCm39)	missense	probably benign	0.12
IGL02172:Wdr90	APN	17	26,069,408 (GRCm39)	missense	probably benign	0.22
IGL02716:Wdr90	APN	17	26,076,194 (GRCm39)	missense	probably damaging	0.96
IGL02961:Wdr90	APN	17	26,067,649 (GRCm39)	nonsense	probably null
IGL03229:Wdr90	APN	17	26,064,437 (GRCm39)	splice site	probably benign
IGL03367:Wdr90	APN	17	26,066,765 (GRCm39)	splice site	probably benign
IGL03098:Wdr90	UTSW	17	26,078,961 (GRCm39)	intron	probably benign
R0111:Wdr90	UTSW	17	26,067,418 (GRCm39)	splice site	probably benign
R0454:Wdr90	UTSW	17	26,079,023 (GRCm39)	missense	probably damaging	0.96
R0457:Wdr90	UTSW	17	26,079,459 (GRCm39)	missense	probably benign	0.00
R0488:Wdr90	UTSW	17	26,067,591 (GRCm39)	missense	probably damaging	1.00
R0622:Wdr90	UTSW	17	26,074,632 (GRCm39)	missense	probably damaging	1.00
R0671:Wdr90	UTSW	17	26,065,367 (GRCm39)	missense	probably benign	0.04
R0799:Wdr90	UTSW	17	26,079,104 (GRCm39)	missense	probably benign	0.38
R1177:Wdr90	UTSW	17	26,065,028 (GRCm39)	missense	possibly damaging	0.85
R1460:Wdr90	UTSW	17	26,079,422 (GRCm39)	missense	possibly damaging	0.82
R1468:Wdr90	UTSW	17	26,073,027 (GRCm39)	missense	probably damaging	1.00
R1468:Wdr90	UTSW	17	26,073,027 (GRCm39)	missense	probably damaging	1.00
R1544:Wdr90	UTSW	17	26,068,284 (GRCm39)	missense	possibly damaging	0.69
R2057:Wdr90	UTSW	17	26,074,173 (GRCm39)	missense	probably benign	0.05
R2087:Wdr90	UTSW	17	26,065,577 (GRCm39)	missense	probably damaging	1.00
R2159:Wdr90	UTSW	17	26,070,715 (GRCm39)	missense	probably benign
R2208:Wdr90	UTSW	17	26,079,362 (GRCm39)	missense	probably damaging	1.00
R2345:Wdr90	UTSW	17	26,078,136 (GRCm39)	missense	probably benign	0.05
R2394:Wdr90	UTSW	17	26,070,429 (GRCm39)	missense	probably damaging	1.00
R2520:Wdr90	UTSW	17	26,074,326 (GRCm39)	missense	probably damaging	1.00
R3798:Wdr90	UTSW	17	26,069,472 (GRCm39)	missense	probably benign	0.01
R3979:Wdr90	UTSW	17	26,078,252 (GRCm39)	missense	probably benign	0.00
R4111:Wdr90	UTSW	17	26,068,342 (GRCm39)	missense	possibly damaging	0.94
R4326:Wdr90	UTSW	17	26,072,705 (GRCm39)	missense	probably benign	0.25
R4459:Wdr90	UTSW	17	26,079,976 (GRCm39)	missense	possibly damaging	0.95
R4697:Wdr90	UTSW	17	26,074,337 (GRCm39)	missense	probably benign	0.03
R4735:Wdr90	UTSW	17	26,078,424 (GRCm39)	missense	probably benign
R4907:Wdr90	UTSW	17	26,079,624 (GRCm39)	intron	probably benign
R5070:Wdr90	UTSW	17	26,065,307 (GRCm39)	missense	probably damaging	1.00
R5230:Wdr90	UTSW	17	26,074,277 (GRCm39)	missense	probably benign	0.01
R5268:Wdr90	UTSW	17	26,069,819 (GRCm39)	missense	probably damaging	1.00
R5287:Wdr90	UTSW	17	26,080,441 (GRCm39)	utr 5 prime	probably benign
R5382:Wdr90	UTSW	17	26,064,572 (GRCm39)	missense	probably damaging	1.00
R5511:Wdr90	UTSW	17	26,063,995 (GRCm39)	unclassified	probably benign
R5545:Wdr90	UTSW	17	26,064,830 (GRCm39)	missense	probably damaging	1.00
R5707:Wdr90	UTSW	17	26,076,166 (GRCm39)	missense	probably benign	0.00
R5973:Wdr90	UTSW	17	26,065,381 (GRCm39)	missense	probably damaging	1.00
R5973:Wdr90	UTSW	17	26,064,107 (GRCm39)	missense	probably damaging	0.99
R6385:Wdr90	UTSW	17	26,067,504 (GRCm39)	missense	probably damaging	1.00
R6481:Wdr90	UTSW	17	26,064,885 (GRCm39)	missense	probably damaging	0.99
R7078:Wdr90	UTSW	17	26,068,623 (GRCm39)	missense	probably damaging	1.00
R7214:Wdr90	UTSW	17	26,064,367 (GRCm39)	missense	probably benign	0.00
R7288:Wdr90	UTSW	17	26,065,286 (GRCm39)	missense	probably benign	0.03
R7304:Wdr90	UTSW	17	26,070,480 (GRCm39)	missense	probably benign	0.10
R7309:Wdr90	UTSW	17	26,079,676 (GRCm39)	missense	probably benign	0.02
R7391:Wdr90	UTSW	17	26,065,502 (GRCm39)	missense	probably benign	0.08
R7622:Wdr90	UTSW	17	26,073,083 (GRCm39)	missense	probably benign	0.00
R7646:Wdr90	UTSW	17	26,079,104 (GRCm39)	missense	probably benign	0.38
R7772:Wdr90	UTSW	17	26,080,465 (GRCm39)	start gained	probably benign
R7779:Wdr90	UTSW	17	26,065,300 (GRCm39)	missense	probably damaging	1.00
R7780:Wdr90	UTSW	17	26,065,300 (GRCm39)	missense	probably damaging	1.00
R7781:Wdr90	UTSW	17	26,065,300 (GRCm39)	missense	probably damaging	1.00
R7782:Wdr90	UTSW	17	26,065,300 (GRCm39)	missense	probably damaging	1.00
R7812:Wdr90	UTSW	17	26,071,532 (GRCm39)	missense	probably damaging	1.00
R7870:Wdr90	UTSW	17	26,079,513 (GRCm39)	missense	probably damaging	0.96
R7911:Wdr90	UTSW	17	26,069,723 (GRCm39)	missense	probably benign	0.00
R8126:Wdr90	UTSW	17	26,067,951 (GRCm39)	missense	possibly damaging	0.48
R8260:Wdr90	UTSW	17	26,064,141 (GRCm39)	missense	probably damaging	1.00
R8315:Wdr90	UTSW	17	26,064,399 (GRCm39)	missense	probably benign	0.21
R8919:Wdr90	UTSW	17	26,076,146 (GRCm39)	missense
R8938:Wdr90	UTSW	17	26,076,146 (GRCm39)	missense
R8940:Wdr90	UTSW	17	26,076,146 (GRCm39)	missense
R9038:Wdr90	UTSW	17	26,076,200 (GRCm39)	missense
R9079:Wdr90	UTSW	17	26,076,403 (GRCm39)	missense
R9401:Wdr90	UTSW	17	26,064,750 (GRCm39)	small insertion	probably benign
R9471:Wdr90	UTSW	17	26,080,015 (GRCm39)	missense	possibly damaging	0.72
R9642:Wdr90	UTSW	17	26,072,694 (GRCm39)	critical splice donor site	probably null
X0064:Wdr90	UTSW	17	26,067,537 (GRCm39)	missense	probably damaging	1.00
Z1176:Wdr90	UTSW	17	26,079,470 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGAGTGAGAGTCGGTCTTG -3'
(R):5'- AGTTGGTGTGGAGCTGACAC -3'

Sequencing Primer
(F):5'- ACCATGTGACCACGTACA -3'
(R):5'- TCATGTTGGGCAAGTGACACC -3'

Posted On

2014-11-11