Mutagenetix > Incidental Mutation

Incidental Mutation 'R5305:Wdr25'

404522

Institutional Source

Beutler Lab

Gene Symbol

Wdr25

Ensembl Gene

ENSMUSG00000040877

Gene Name

WD repeat domain 25

Synonyms

B930090D16Rik

MMRRC Submission

042888-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R5305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108860155-108994380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 108992366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 74 (H74N)

Ref Sequence

ENSEMBL: ENSMUSP00000152632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047115] [ENSMUST00000167816] [ENSMUST00000221510]

AlphaFold

E9Q349

Predicted Effect

probably damaging
Transcript: ENSMUST00000047115
AA Change: H426N

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

SMART Domains

Protein: ENSMUSP00000035553
Gene: ENSMUSG00000040877
AA Change: H426N

Domain	Start	End	E-Value	Type
low complexity region	120	132	N/A	INTRINSIC
low complexity region	180	206	N/A	INTRINSIC
WD40	226	268	1.83e-7	SMART
WD40	272	311	6.73e-6	SMART
WD40	312	353	2.58e-1	SMART
Blast:WD40	356	402	7e-11	BLAST
Blast:WD40	407	445	6e-8	BLAST
WD40	451	492	9.6e-2	SMART
WD40	495	535	3e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000167816
AA Change: H426N

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

SMART Domains

Protein: ENSMUSP00000129855
Gene: ENSMUSG00000040877
AA Change: H426N

Domain	Start	End	E-Value	Type
low complexity region	120	132	N/A	INTRINSIC
low complexity region	180	206	N/A	INTRINSIC
WD40	226	268	1.83e-7	SMART
WD40	272	311	6.73e-6	SMART
WD40	312	353	2.58e-1	SMART
Blast:WD40	356	402	7e-11	BLAST
Blast:WD40	407	445	6e-8	BLAST
WD40	451	492	9.6e-2	SMART
WD40	495	535	3e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000221510
AA Change: H74N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.8021

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	A	15: 81,943,420 (GRCm39)	V11M	possibly damaging	Het
Acot8	A	G	2: 164,637,685 (GRCm39)	V179A	probably benign	Het
Actb	A	G	5: 142,889,985 (GRCm39)	I194T	probably benign	Het
Ap1g2	A	G	14: 55,336,533 (GRCm39)	V787A	probably benign	Het
Areg	G	T	5: 91,292,308 (GRCm39)	A203S	probably damaging	Het
Asb13	A	T	13: 3,693,479 (GRCm39)	D79V	probably damaging	Het
Atad2b	C	T	12: 5,015,855 (GRCm39)	T527I	probably damaging	Het
Auts2	T	G	5: 131,472,632 (GRCm39)		probably benign	Het
Ceacam3	T	A	7: 16,885,501 (GRCm39)	S35T	probably damaging	Het
Crebzf	T	C	7: 90,093,342 (GRCm39)		probably benign	Het
Cttnbp2	G	T	6: 18,381,097 (GRCm39)	N1366K	probably benign	Het
Cubn	C	A	2: 13,393,750 (GRCm39)	C1417F	probably damaging	Het
Dot1l	C	T	10: 80,626,627 (GRCm39)	P162S	probably benign	Het
Epc1	G	A	18: 6,490,690 (GRCm39)		probably benign	Het
Eps8l1	A	G	7: 4,480,895 (GRCm39)	S613G	possibly damaging	Het
Erich6	T	G	3: 58,532,537 (GRCm39)	I357L	probably benign	Het
Foxj3	T	A	4: 119,477,155 (GRCm39)	S288T	possibly damaging	Het
Gls2	T	G	10: 128,040,578 (GRCm39)	Y326*	probably null	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm7535	T	C	17: 18,132,061 (GRCm39)		probably benign	Het
Gxylt2	T	G	6: 100,764,179 (GRCm39)	L288R	probably damaging	Het
Kdm4a	T	C	4: 118,017,698 (GRCm39)	Y456C	probably damaging	Het
Mgat4c	T	A	10: 102,225,140 (GRCm39)	F451L	possibly damaging	Het
Mrpl20	G	A	4: 155,888,162 (GRCm39)	R17H	probably damaging	Het
Mtf2	A	G	5: 108,252,365 (GRCm39)	T465A	possibly damaging	Het
Mycbp2	A	C	14: 103,583,757 (GRCm39)	L66R	probably benign	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Nr2e1	A	T	10: 42,447,483 (GRCm39)	Y176*	probably null	Het
Obscn	T	C	11: 58,903,541 (GRCm39)	T7628A	possibly damaging	Het
Or7a37	A	T	10: 78,806,390 (GRCm39)	K302N	possibly damaging	Het
Pitx2	T	G	3: 129,009,489 (GRCm39)	V129G	probably damaging	Het
Polr2e	A	G	10: 79,873,897 (GRCm39)		probably benign	Het
Ppard	A	G	17: 28,517,832 (GRCm39)	D300G	probably damaging	Het
Ppp1r27	A	G	11: 120,441,743 (GRCm39)	V46A	probably benign	Het
Prex2	T	A	1: 11,177,902 (GRCm39)	V332E	probably damaging	Het
Prss30	T	G	17: 24,191,750 (GRCm39)	Y257S	probably benign	Het
Ptprd	T	C	4: 75,900,863 (GRCm39)	E1082G	probably damaging	Het
Rab3c	T	A	13: 110,317,611 (GRCm39)	R89S	probably damaging	Het
Rimbp2	A	G	5: 128,874,445 (GRCm39)	V389A	possibly damaging	Het
Rims1	T	A	1: 22,635,623 (GRCm39)	R119S	probably damaging	Het
Sema3b	T	C	9: 107,480,536 (GRCm39)	H137R	probably null	Het
Sf3b4	G	C	3: 96,080,958 (GRCm39)	A89P	probably damaging	Het
Sgta	T	A	10: 80,882,081 (GRCm39)	Q298L	probably damaging	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Sry	T	A	Y: 2,662,982 (GRCm39)	D226V	unknown	Het
Sv2a	A	G	3: 96,092,774 (GRCm39)	E158G	possibly damaging	Het
Sytl2	A	G	7: 90,031,071 (GRCm39)		probably benign	Het
Thbs3	T	A	3: 89,125,283 (GRCm39)		probably benign	Het
Top3a	A	T	11: 60,653,365 (GRCm39)	N56K	possibly damaging	Het
Tyk2	T	C	9: 21,020,677 (GRCm39)	D918G	probably damaging	Het
Uqcrh	A	G	4: 115,924,481 (GRCm39)		probably benign	Het
Vmn1r61	A	G	7: 5,613,814 (GRCm39)	S167P	probably damaging	Het
Zfp458	T	C	13: 67,404,382 (GRCm39)	N686D	probably benign	Het
Zfp574	T	A	7: 24,780,515 (GRCm39)	H512Q		Het
Zfp976	A	T	7: 42,262,902 (GRCm39)	Y312N	probably benign	Het
Zscan4c	G	A	7: 10,743,462 (GRCm39)	V354I	probably benign	Het

Other mutations in Wdr25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Wdr25	APN	12	108,990,953 (GRCm39)	missense	possibly damaging	0.89
IGL02479:Wdr25	APN	12	108,864,527 (GRCm39)	missense	probably benign
IGL02672:Wdr25	APN	12	108,864,007 (GRCm39)	nonsense	probably null
IGL03329:Wdr25	APN	12	108,864,262 (GRCm39)	missense	probably benign
R1061:Wdr25	UTSW	12	108,958,725 (GRCm39)	splice site	probably null
R1402:Wdr25	UTSW	12	108,992,465 (GRCm39)	missense	probably damaging	1.00
R1402:Wdr25	UTSW	12	108,992,465 (GRCm39)	missense	probably damaging	1.00
R1582:Wdr25	UTSW	12	108,863,980 (GRCm39)	missense	possibly damaging	0.94
R1764:Wdr25	UTSW	12	108,992,364 (GRCm39)	nonsense	probably null
R1954:Wdr25	UTSW	12	108,864,467 (GRCm39)	missense	probably damaging	0.99
R2258:Wdr25	UTSW	12	108,864,100 (GRCm39)	missense	possibly damaging	0.94
R3770:Wdr25	UTSW	12	108,864,346 (GRCm39)	missense	probably damaging	0.97
R3803:Wdr25	UTSW	12	108,864,479 (GRCm39)	missense	probably damaging	1.00
R3948:Wdr25	UTSW	12	108,993,208 (GRCm39)	missense	probably benign	0.02
R4183:Wdr25	UTSW	12	108,993,257 (GRCm39)	missense	probably benign	0.00
R5246:Wdr25	UTSW	12	108,993,382 (GRCm39)	missense	probably benign	0.06
R5290:Wdr25	UTSW	12	108,863,968 (GRCm39)	missense	probably benign	0.26
R5813:Wdr25	UTSW	12	108,993,347 (GRCm39)	missense	possibly damaging	0.47
R5942:Wdr25	UTSW	12	108,864,392 (GRCm39)	missense	probably benign	0.00
R6386:Wdr25	UTSW	12	108,990,991 (GRCm39)	missense	probably damaging	1.00
R7171:Wdr25	UTSW	12	108,990,922 (GRCm39)	missense	probably damaging	0.98
R7449:Wdr25	UTSW	12	108,992,367 (GRCm39)	missense	probably damaging	1.00
R7616:Wdr25	UTSW	12	108,958,819 (GRCm39)	missense	possibly damaging	0.73
R7617:Wdr25	UTSW	12	108,958,819 (GRCm39)	missense	possibly damaging	0.73
R7619:Wdr25	UTSW	12	108,958,819 (GRCm39)	missense	possibly damaging	0.73
R7622:Wdr25	UTSW	12	108,958,819 (GRCm39)	missense	possibly damaging	0.73
R7623:Wdr25	UTSW	12	108,958,819 (GRCm39)	missense	possibly damaging	0.73
R7984:Wdr25	UTSW	12	108,976,983 (GRCm39)	splice site	probably null
R8504:Wdr25	UTSW	12	108,992,393 (GRCm39)	nonsense	probably null
R9598:Wdr25	UTSW	12	108,864,613 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TTTGTTACAACAGCAGCCACCC -3'
(R):5'- TTGTCCACAGAGCCAGCAATC -3'

Sequencing Primer
(F):5'- CACCCAGCCTCCTAAGCCAAG -3'
(R):5'- TCATACACTTGGGCAGCAG -3'

Posted On

2016-07-22