Mutagenetix > Incidental Mutation

Incidental Mutation 'R6899:Wdr5b'

541038

Institutional Source

Beutler Lab

Gene Symbol

Wdr5b

Ensembl Gene

ENSMUSG00000034379

Gene Name

WD repeat domain 5B

Synonyms

2310009C03Rik

MMRRC Submission

044993-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R6899 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35861560-35863344 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35862150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 90 (S90P)

Ref Sequence

ENSEMBL: ENSMUSP00000040852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004054] [ENSMUST00000004057] [ENSMUST00000042203] [ENSMUST00000231351]

AlphaFold

Q9D7H2

Predicted Effect

probably benign
Transcript: ENSMUST00000004054

SMART Domains

Protein: ENSMUSP00000004054
Gene: ENSMUSG00000022905

Domain	Start	End	E-Value	Type
Pfam:IBB	6	104	1.3e-27	PFAM
ARM	115	156	1.47e-2	SMART
ARM	158	198	2.51e-10	SMART
ARM	200	241	7.16e-6	SMART
ARM	244	283	2.22e1	SMART
ARM	285	325	1.45e-6	SMART
ARM	327	367	1.12e-7	SMART
ARM	369	409	1.76e-5	SMART
ARM	412	452	2.91e-6	SMART
Pfam:Arm_3	466	516	6e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000004057

SMART Domains

Protein: ENSMUSP00000004057
Gene: ENSMUSG00000003955

Domain	Start	End	E-Value	Type
Pfam:DUF1075	10	155	1.8e-69	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000042203
AA Change: S90P

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

SMART Domains

Protein: ENSMUSP00000040852
Gene: ENSMUSG00000034379
AA Change: S90P

Domain	Start	End	E-Value	Type
WD40	28	67	5.95e-7	SMART
WD40	70	109	1.28e-11	SMART
WD40	112	151	4.87e-12	SMART
WD40	154	193	5.22e-12	SMART
WD40	196	236	1.21e-7	SMART
WD40	239	281	5.47e-6	SMART
WD40	284	325	1.01e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000231351

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.0%
20x: 95.9%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a protein containing several WD40 repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, including a trp-asp at the C-terminal end. The encoded protein may mediate protein-protein interactions. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,264 (GRCm39)	Y1140C	probably damaging	Het
Actl9	G	A	17: 33,652,533 (GRCm39)	G198S	probably damaging	Het
Adcy2	A	T	13: 69,130,500 (GRCm39)	M129K	probably damaging	Het
Apmap	T	A	2: 150,436,228 (GRCm39)	I107F	probably benign	Het
Arrdc3	T	C	13: 81,037,330 (GRCm39)	I162T	probably damaging	Het
Asprv1	T	C	6: 86,605,742 (GRCm39)	L196P	probably damaging	Het
Atpsckmt	A	G	15: 31,617,257 (GRCm39)	S163G	probably benign	Het
Bag2	A	G	1: 33,785,912 (GRCm39)	S137P	possibly damaging	Het
Borcs5	T	A	6: 134,687,173 (GRCm39)	M177K	probably benign	Het
C8b	A	T	4: 104,644,071 (GRCm39)	K246M	probably benign	Het
Cdo1	A	G	18: 46,856,407 (GRCm39)	C76R	probably damaging	Het
Ces2b	T	A	8: 105,563,398 (GRCm39)		probably null	Het
Csf2rb	G	A	15: 78,224,902 (GRCm39)	S194N	probably benign	Het
Dap3	A	G	3: 88,840,907 (GRCm39)	F77L	probably benign	Het
Dars1	A	G	1: 128,341,483 (GRCm39)	V44A	possibly damaging	Het
Dhtkd1	T	A	2: 5,922,776 (GRCm39)	D461V	possibly damaging	Het
Ero1a	A	C	14: 45,530,396 (GRCm39)	H345Q	probably benign	Het
Fzd8	T	A	18: 9,214,729 (GRCm39)	S604T	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gramd1c	T	A	16: 43,860,505 (GRCm39)	Y64F	probably benign	Het
Heatr5b	T	A	17: 79,110,938 (GRCm39)	Y970F	probably benign	Het
Hoxc10	A	G	15: 102,875,942 (GRCm39)	E217G	possibly damaging	Het
Hsd17b14	A	T	7: 45,212,352 (GRCm39)	H128L	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ifna9	A	G	4: 88,510,300 (GRCm39)	F108S	probably damaging	Het
Ikbke	A	G	1: 131,203,499 (GRCm39)	V58A	probably damaging	Het
Inpp5e	G	A	2: 26,290,060 (GRCm39)	R462C	possibly damaging	Het
Junb	A	G	8: 85,704,353 (GRCm39)	F236L	probably benign	Het
Klhl36	T	C	8: 120,596,881 (GRCm39)	V194A	probably benign	Het
Lsg1	A	T	16: 30,400,906 (GRCm39)	D134E	probably benign	Het
Megf8	G	T	7: 25,060,138 (GRCm39)	C2343F	probably damaging	Het
Mtres1	T	C	10: 43,408,780 (GRCm39)	E121G	possibly damaging	Het
Myom3	G	A	4: 135,530,603 (GRCm39)	G1172R	probably damaging	Het
Nasp	A	T	4: 116,461,530 (GRCm39)	V548E	probably damaging	Het
Nubpl	T	A	12: 52,357,536 (GRCm39)	S317T	probably benign	Het
Nup210l	A	G	3: 90,075,204 (GRCm39)	D838G	possibly damaging	Het
Oxsr1	C	T	9: 119,076,188 (GRCm39)	A373T	probably benign	Het
Psat1	C	T	19: 15,895,569 (GRCm39)		probably null	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Slain1	C	T	14: 103,888,215 (GRCm39)	P45L	possibly damaging	Het
Slc16a8	A	G	15: 79,137,949 (GRCm39)	V20A	possibly damaging	Het
Slc22a13	A	T	9: 119,025,473 (GRCm39)	M145K	probably damaging	Het
Slc22a4	G	A	11: 53,879,739 (GRCm39)	T440I	probably damaging	Het
Slc39a12	C	T	2: 14,394,352 (GRCm39)	P74L	probably damaging	Het
Sod3	A	G	5: 52,526,050 (GRCm39)	T250A	unknown	Het
Syne2	A	G	12: 76,142,503 (GRCm39)		probably null	Het
Tctn1	A	G	5: 122,387,019 (GRCm39)	Y299H	probably damaging	Het
Tfcp2l1	A	G	1: 118,603,305 (GRCm39)	M448V	probably benign	Het
Tfpi	C	T	2: 84,275,153 (GRCm39)	G152S	probably damaging	Het
Thap4	A	G	1: 93,678,691 (GRCm39)	S32P	probably damaging	Het
Tmem132c	T	A	5: 127,628,744 (GRCm39)	W549R	probably damaging	Het
Vmn2r29	T	C	7: 7,244,641 (GRCm39)	E411G	probably damaging	Het
Washc4	C	A	10: 83,411,919 (GRCm39)	D683E	probably benign	Het
Wdr3	A	T	3: 100,057,217 (GRCm39)	V462D	possibly damaging	Het
Zfp407	A	G	18: 84,579,559 (GRCm39)	L518P	possibly damaging	Het
Zfp53	A	G	17: 21,728,707 (GRCm39)	I247V	possibly damaging	Het

Other mutations in Wdr5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02394:Wdr5b	APN	16	35,862,633 (GRCm39)	missense	probably damaging	1.00
R0605:Wdr5b	UTSW	16	35,862,366 (GRCm39)	missense	probably benign	0.00
R0627:Wdr5b	UTSW	16	35,862,840 (GRCm39)	missense	probably benign	0.07
R5280:Wdr5b	UTSW	16	35,862,202 (GRCm39)	missense	probably benign	0.16
R5977:Wdr5b	UTSW	16	35,862,374 (GRCm39)	missense	probably damaging	1.00
R7236:Wdr5b	UTSW	16	35,862,208 (GRCm39)	missense	possibly damaging	0.88
R7246:Wdr5b	UTSW	16	35,862,306 (GRCm39)	missense	probably damaging	1.00
R7641:Wdr5b	UTSW	16	35,862,712 (GRCm39)	missense	probably damaging	1.00
R7918:Wdr5b	UTSW	16	35,862,192 (GRCm39)	missense	probably damaging	0.99
R8063:Wdr5b	UTSW	16	35,862,158 (GRCm39)	missense	possibly damaging	0.78
R8971:Wdr5b	UTSW	16	35,861,926 (GRCm39)	missense	probably benign
Z1088:Wdr5b	UTSW	16	35,862,813 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTCAGACTTACTCTTGCGGG -3'
(R):5'- TGCAGACAAAGTCTTGAGGC -3'

Sequencing Primer
(F):5'- TTACTCTTGCGGGGCACTCG -3'
(R):5'- CAGACAAAGTCTTGAGGCATTTTCC -3'

Posted On

2018-11-28