Mutagenetix > Incidental Mutation

Incidental Mutation 'R5290:Wdr25'

424673

Institutional Source

Beutler Lab

Gene Symbol

Wdr25

Ensembl Gene

ENSMUSG00000040877

Gene Name

WD repeat domain 25

Synonyms

B930090D16Rik

MMRRC Submission

042873-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

R5290 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108860155-108994380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108863968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 38 (S38P)

Ref Sequence

ENSEMBL: ENSMUSP00000152858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047115] [ENSMUST00000109848] [ENSMUST00000160477] [ENSMUST00000161154] [ENSMUST00000161410] [ENSMUST00000162748] [ENSMUST00000167816] [ENSMUST00000220667] [ENSMUST00000221377] [ENSMUST00000220495]

AlphaFold

E9Q349

Predicted Effect

probably benign
Transcript: ENSMUST00000047115
AA Change: S38P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035553
Gene: ENSMUSG00000040877
AA Change: S38P

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 benign
Transcript: ENSMUST00000109848

SMART Domains

Protein: ENSMUSP00000105474
Gene: ENSMUSG00000021266

Domain	Start	End	E-Value	Type
WHEP-TRS	16	72	3.01e-23	SMART
Pfam:tRNA-synt_1b	155	447	5.8e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160477

Predicted Effect

probably benign
Transcript: ENSMUST00000161154

SMART Domains

Protein: ENSMUSP00000124625
Gene: ENSMUSG00000021266

Domain	Start	End	E-Value	Type
WHEP-TRS	16	72	3.01e-23	SMART
Pfam:tRNA-synt_1b	155	446	1.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161410

SMART Domains

Protein: ENSMUSP00000125320
Gene: ENSMUSG00000021266

Domain	Start	End	E-Value	Type
WHEP-TRS	16	72	3.01e-23	SMART
Pfam:tRNA-synt_1b	155	447	5.8e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162748

SMART Domains

Protein: ENSMUSP00000125102
Gene: ENSMUSG00000021266

Domain	Start	End	E-Value	Type
PDB:2QUK\|A	4	37	1e-8	PDB
SCOP:d1fyja_	14	37	8e-7	SMART
Blast:WHEP	16	37	3e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000167816
AA Change: S38P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129855
Gene: ENSMUSG00000040877
AA Change: S38P

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 benign
Transcript: ENSMUST00000220667
AA Change: S38P

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000221377
AA Change: S38P

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000220495

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008E08Rik	A	T	16: 90,351,098 (GRCm39)		noncoding transcript	Het
2700049A03Rik	C	A	12: 71,235,565 (GRCm39)	P1172T	probably benign	Het
Abi3bp	T	A	16: 56,462,838 (GRCm39)		probably null	Het
Apod	T	A	16: 31,129,884 (GRCm39)	H24L	probably damaging	Het
Arfgef3	T	C	10: 18,476,208 (GRCm39)	E1537G	probably damaging	Het
B020004C17Rik	T	C	14: 57,254,036 (GRCm39)	V53A	possibly damaging	Het
Ccdc113	C	A	8: 96,267,424 (GRCm39)		probably null	Het
Cd7	T	G	11: 120,928,936 (GRCm39)	D105A	probably damaging	Het
Celsr3	C	T	9: 108,720,357 (GRCm39)	T2550M	probably benign	Het
Cibar1	T	C	4: 12,171,195 (GRCm39)	Q86R	probably benign	Het
Col6a5	C	T	9: 105,823,282 (GRCm39)	G25D	unknown	Het
Cps1	A	G	1: 67,211,868 (GRCm39)	M679V	probably benign	Het
Dnai4	A	T	4: 102,906,730 (GRCm39)	D694E	probably benign	Het
Dync1h1	A	T	12: 110,581,502 (GRCm39)	T316S	probably benign	Het
Edrf1	T	C	7: 133,252,295 (GRCm39)	Y449H	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Flg2	A	T	3: 93,127,873 (GRCm39)	I2262L	unknown	Het
Flnc	T	C	6: 29,457,553 (GRCm39)	L2417P	probably damaging	Het
Gabrp	A	T	11: 33,517,310 (GRCm39)	Y121N	probably damaging	Het
Gdpd4	A	G	7: 97,615,543 (GRCm39)	T123A	possibly damaging	Het
Gpr162	C	A	6: 124,838,232 (GRCm39)	M139I	probably benign	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Gsn	G	A	2: 35,186,484 (GRCm39)	S410N	probably benign	Het
Gtf2f2	T	C	14: 76,135,089 (GRCm39)	Y212C	probably damaging	Het
Hao2	C	T	3: 98,784,493 (GRCm39)	A291T	probably damaging	Het
Igkv1-133	A	G	6: 67,702,563 (GRCm39)	T94A	possibly damaging	Het
Irf2bp1	G	A	7: 18,738,923 (GRCm39)	A188T	possibly damaging	Het
Itpr1	T	C	6: 108,383,106 (GRCm39)	V1478A	possibly damaging	Het
Kdm5b	T	C	1: 134,549,837 (GRCm39)		probably null	Het
Kif5b	A	T	18: 6,234,882 (GRCm39)	D49E	probably damaging	Het
Lmbr1l	A	G	15: 98,810,123 (GRCm39)	W113R	probably damaging	Het
Lrp2	T	C	2: 69,343,698 (GRCm39)	D887G	probably damaging	Het
Lrrc14	T	A	15: 76,598,143 (GRCm39)	M291K	probably benign	Het
Lypd11	T	C	7: 24,422,836 (GRCm39)	E79G	probably benign	Het
Mgarp	G	A	3: 51,296,387 (GRCm39)	A205V	possibly damaging	Het
Msl2	T	C	9: 100,978,606 (GRCm39)		probably null	Het
Nfix	G	A	8: 85,440,406 (GRCm39)	Q487*	probably null	Het
Notch4	T	C	17: 34,784,263 (GRCm39)	V22A	probably benign	Het
Npc1l1	T	A	11: 6,172,221 (GRCm39)	Q823L	probably benign	Het
Obox3	T	C	7: 15,360,774 (GRCm39)	K122E	probably benign	Het
Or10ab5	C	T	7: 108,245,755 (GRCm39)	M9I	probably benign	Het
Or2a12	A	G	6: 42,904,972 (GRCm39)	K269R	probably damaging	Het
Or8s10	T	C	15: 98,336,213 (GRCm39)	Y288H	probably damaging	Het
Plekhh3	T	A	11: 101,057,397 (GRCm39)	M287L	possibly damaging	Het
Prpf3	A	T	3: 95,760,857 (GRCm39)	I15K	probably benign	Het
Rpl12-ps1	G	T	1: 36,997,423 (GRCm39)		noncoding transcript	Het
Rps8	G	C	4: 117,012,352 (GRCm39)		probably benign	Het
Setd2	T	C	9: 110,446,899 (GRCm39)	V2489A	probably damaging	Het
Slfn10-ps	T	A	11: 82,919,851 (GRCm39)		noncoding transcript	Het
Smad2	C	T	18: 76,395,795 (GRCm39)	P78L	probably damaging	Het
Spen	G	A	4: 141,201,127 (GRCm39)	T2500I	probably damaging	Het
Stmnd1	A	G	13: 46,453,074 (GRCm39)	D250G	probably benign	Het
Tjp2	T	G	19: 24,108,568 (GRCm39)	E181D	probably benign	Het
Tmem131l	T	C	3: 83,806,572 (GRCm39)	D1478G	probably benign	Het
Trim72	G	T	7: 127,609,176 (GRCm39)	R326L	probably benign	Het
Ttn	A	T	2: 76,727,584 (GRCm39)		probably benign	Het
Vmn1r177	A	T	7: 23,565,498 (GRCm39)	M126K	probably damaging	Het
Vmn1r57	A	G	7: 5,224,319 (GRCm39)	I281M	probably damaging	Het
Vmn2r108	C	A	17: 20,691,665 (GRCm39)	R286L	probably benign	Het
Zfp937	T	A	2: 150,080,229 (GRCm39)	Y86*	probably null	Het
Zfr2	CTCAGACTGGTGTCAGAC	CTCAGAC	10: 81,082,544 (GRCm39)		probably null	Het
Zswim1	C	T	2: 164,667,845 (GRCm39)	H366Y	probably damaging	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
R5305:Wdr25	UTSW	12	108,992,366 (GRCm39)	missense	probably damaging	1.00
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'- TGACGTCTTTGAGCTTCAAGGG -3'
(R):5'- GTTCCTTTGAGGGCCACTGTAG -3'

Sequencing Primer
(F):5'- CTTTGAGCTTCAAGGGGACATCC -3'
(R):5'- GCCTCTGGCTGGGACAAGAC -3'

Posted On

2016-08-04