Mutagenetix > Incidental Mutation

Incidental Mutation 'R7918:Wdr5b'

648203

Institutional Source

Beutler Lab

Gene Symbol

Wdr5b

Ensembl Gene

ENSMUSG00000034379

Gene Name

WD repeat domain 5B

Synonyms

2310009C03Rik

MMRRC Submission

045966-MU

Accession Numbers

Essential gene?

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

Stock #

R7918 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35861560-35863344 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35862192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 104 (T104A)

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: T104A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040852
Gene: ENSMUSG00000034379
AA Change: T104A

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: 99.6%
20x: 98.8%

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330070K13Rik	G	A	5: 130,413,269 (GRCm39)	T30I	unknown	Het
Adam21	A	G	12: 81,607,378 (GRCm39)	V128A	possibly damaging	Het
Adam26a	T	C	8: 44,022,566 (GRCm39)	Y308C	probably damaging	Het
Adam26b	A	G	8: 43,974,138 (GRCm39)	V288A	probably benign	Het
Ankrd29	A	C	18: 12,428,979 (GRCm39)	L30R	probably damaging	Het
Bank1	A	G	3: 135,799,123 (GRCm39)	I406T	probably damaging	Het
Cacna1g	A	G	11: 94,334,856 (GRCm39)	I817T	probably benign	Het
Catsperd	T	C	17: 56,938,564 (GRCm39)	F31L	probably benign	Het
Cep164	A	G	9: 45,690,986 (GRCm39)		probably null	Het
Clca4b	T	C	3: 144,619,033 (GRCm39)	Y702C	probably damaging	Het
Clstn1	A	G	4: 149,728,508 (GRCm39)	I655V	probably damaging	Het
Dock1	A	G	7: 134,747,147 (GRCm39)	E1486G	probably damaging	Het
Epha8	A	G	4: 136,661,877 (GRCm39)	F573L	probably benign	Het
Exoc1	A	G	5: 76,691,840 (GRCm39)	N323S	probably benign	Het
Exoc6b	C	T	6: 85,046,332 (GRCm39)	R19Q	probably damaging	Het
Gcsam	T	C	16: 45,440,502 (GRCm39)	*182R	probably null	Het
Ighv9-2	T	C	12: 114,072,911 (GRCm39)	I21V	probably benign	Het
Ints2	G	A	11: 86,113,043 (GRCm39)	T825M	probably damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lad1	A	G	1: 135,757,454 (GRCm39)	T398A	probably benign	Het
Lrfn2	T	C	17: 49,378,212 (GRCm39)	V431A	probably damaging	Het
Mast2	T	C	4: 116,292,732 (GRCm39)	I79M	possibly damaging	Het
Nup107	A	G	10: 117,617,905 (GRCm39)	V171A	probably benign	Het
Or1e1c	T	C	11: 73,265,923 (GRCm39)	F119S	probably damaging	Het
Or8b101	T	A	9: 38,020,103 (GRCm39)	Y35*	probably null	Het
Or8g37	C	A	9: 39,731,406 (GRCm39)	T157K	probably damaging	Het
Pde4dip	T	A	3: 97,622,539 (GRCm39)	K1557*	probably null	Het
Plat	C	T	8: 23,263,655 (GRCm39)	P185S	probably damaging	Het
Plcg1	T	G	2: 160,595,585 (GRCm39)	V511G	probably damaging	Het
Plxnb3	C	T	X: 72,811,251 (GRCm39)	A1258V	probably benign	Het
Rnf223	T	C	4: 156,217,240 (GRCm39)	V205A	probably benign	Het
Slc13a1	G	C	6: 24,118,065 (GRCm39)	T224R	probably benign	Het
Slc39a10	T	A	1: 46,874,912 (GRCm39)	H130L	possibly damaging	Het
Sucnr1	T	A	3: 59,993,790 (GRCm39)	I106N	probably damaging	Het
Syde2	T	C	3: 145,708,170 (GRCm39)		probably null	Het
Syne1	T	C	10: 5,309,078 (GRCm39)	I644V	possibly damaging	Het
Tbc1d8	A	C	1: 39,441,809 (GRCm39)	F261C	probably damaging	Het
Tmem132e	A	G	11: 82,336,116 (GRCm39)	Y1066C	probably damaging	Het
Trip12	A	C	1: 84,722,784 (GRCm39)	I1322S	probably damaging	Het
Tsnaxip1	A	G	8: 106,571,167 (GRCm39)	I676V	probably benign	Het
Vmn1r231	A	T	17: 21,110,236 (GRCm39)	Y226*	probably null	Het
Vmn2r63	G	C	7: 42,552,955 (GRCm39)	A767G	probably damaging	Het
Zbed5	T	C	5: 129,930,504 (GRCm39)	V151A	possibly damaging	Het
Zc3h7b	T	C	15: 81,653,189 (GRCm39)	F31S	probably damaging	Het
Zfp874b	A	T	13: 67,622,279 (GRCm39)	C340S	possibly damaging	Het
Zmym4	T	A	4: 126,804,797 (GRCm39)		probably null	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
R6899:Wdr5b	UTSW	16	35,862,150 (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
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'- TCAGACTTACTCTTGCGGGG -3'
(R):5'- AATGTGCAGACAAAGTCTTGAG -3'

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

Posted On

2020-09-15