Mutagenetix > Incidental Mutation

Incidental Mutation 'R1415:Wdr59'

159776

Institutional Source

Beutler Lab

Gene Symbol

Wdr59

Ensembl Gene

ENSMUSG00000031959

Gene Name

WD repeat domain 59

Synonyms

5430401O09Rik

MMRRC Submission

039471-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1415 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112175429-112248724 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 112225228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 141 (P141S)

Ref Sequence

ENSEMBL: ENSMUSP00000148397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034437] [ENSMUST00000038193] [ENSMUST00000211981]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034437
AA Change: P141S

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

SMART Domains

Protein: ENSMUSP00000034437
Gene: ENSMUSG00000031959
AA Change: P141S

Domain	Start	End	E-Value	Type
WD40	41	91	1.37e2	SMART
WD40	94	134	9.52e-6	SMART
WD40	138	176	4.46e-1	SMART
WD40	180	220	2.59e-7	SMART
WD40	271	315	8.59e-1	SMART
RWD	393	494	4.13e-14	SMART
low complexity region	620	632	N/A	INTRINSIC
low complexity region	802	813	N/A	INTRINSIC
Blast:RING	941	980	3e-10	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000038193
AA Change: P141S

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

SMART Domains

Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: P141S

Domain	Start	End	E-Value	Type
WD40	41	91	1.37e2	SMART
WD40	94	134	9.52e-6	SMART
WD40	138	176	4.46e-1	SMART
WD40	180	220	2.59e-7	SMART
WD40	271	315	8.59e-1	SMART
RWD	393	494	4.13e-14	SMART
low complexity region	803	814	N/A	INTRINSIC
Pfam:Zn_ribbon_17	937	992	2e-14	PFAM
Pfam:zinc_ribbon_16	949	990	1.6e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000211981
AA Change: P141S

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,303,982 (GRCm39)	V135A	probably benign	Het
Adam21	C	T	12: 81,606,321 (GRCm39)	W480*	probably null	Het
Ccdc71	T	A	9: 108,340,407 (GRCm39)	Y73*	probably null	Het
Cfap44	T	A	16: 44,301,752 (GRCm39)	I1830N	probably damaging	Het
Dnajb11	T	C	16: 22,689,371 (GRCm39)	V264A	probably benign	Het
Fam135b	T	C	15: 71,328,777 (GRCm39)	E1174G	probably damaging	Het
Fam83e	G	A	7: 45,376,135 (GRCm39)	E283K	probably damaging	Het
Gigyf1	A	G	5: 137,517,478 (GRCm39)		probably null	Het
Letm1	A	T	5: 33,926,906 (GRCm39)	N130K	probably benign	Het
Lrp1b	T	C	2: 40,519,676 (GRCm39)	Y137C	probably damaging	Het
Map3k2	A	G	18: 32,361,330 (GRCm39)	I597V	possibly damaging	Het
Nek1	A	G	8: 61,542,720 (GRCm39)	E770G	probably benign	Het
Or4d2b	A	C	11: 87,780,473 (GRCm39)	V83G	possibly damaging	Het
Or52n2b	A	G	7: 104,565,543 (GRCm39)	I320T	probably benign	Het
Pank2	T	A	2: 131,124,638 (GRCm39)	Y68*	probably null	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Secisbp2l	C	A	2: 125,582,285 (GRCm39)	G1057V	probably benign	Het
Slc30a2	C	T	4: 134,076,660 (GRCm39)	T265M	probably damaging	Het
Smarca2	A	G	19: 26,688,084 (GRCm39)	E1239G	probably null	Het
Snx30	C	T	4: 59,879,261 (GRCm39)	R167C	probably damaging	Het
Tmem26	T	C	10: 68,614,491 (GRCm39)	F302S	possibly damaging	Het
Tpgs2	A	G	18: 25,301,610 (GRCm39)	L19S	probably damaging	Het
Trp53bp1	T	G	2: 121,066,665 (GRCm39)	E687A	probably damaging	Het
Ttc27	C	T	17: 75,046,667 (GRCm39)	H243Y	probably benign	Het
Wdfy4	A	T	14: 32,763,137 (GRCm39)	V2318D	possibly damaging	Het
Zbed6	C	T	1: 133,585,556 (GRCm39)	V594M	possibly damaging	Het
Zfp787	C	A	7: 6,135,694 (GRCm39)	G186C	probably damaging	Het

Other mutations in Wdr59

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Wdr59	APN	8	112,185,368 (GRCm39)	missense	probably damaging	0.98
IGL01330:Wdr59	APN	8	112,208,565 (GRCm39)	missense	possibly damaging	0.87
IGL01413:Wdr59	APN	8	112,227,706 (GRCm39)	missense	probably benign	0.23
IGL02306:Wdr59	APN	8	112,219,365 (GRCm39)	missense	probably damaging	1.00
IGL03027:Wdr59	APN	8	112,188,824 (GRCm39)	missense	probably damaging	1.00
IGL03057:Wdr59	APN	8	112,202,750 (GRCm39)	missense	probably damaging	1.00
IGL03204:Wdr59	APN	8	112,212,002 (GRCm39)	missense	probably benign	0.05
electron	UTSW	8	112,185,270 (GRCm39)	missense	probably benign	0.00
photon	UTSW	8	112,187,445 (GRCm39)	missense	probably benign	0.00
R0056:Wdr59	UTSW	8	112,207,239 (GRCm39)	splice site	probably benign
R0096:Wdr59	UTSW	8	112,231,005 (GRCm39)	missense	probably damaging	1.00
R0096:Wdr59	UTSW	8	112,231,005 (GRCm39)	missense	probably damaging	1.00
R0440:Wdr59	UTSW	8	112,207,172 (GRCm39)	small deletion	probably benign
R0452:Wdr59	UTSW	8	112,248,604 (GRCm39)	missense	possibly damaging	0.87
R0472:Wdr59	UTSW	8	112,213,629 (GRCm39)	critical splice acceptor site	probably null
R0501:Wdr59	UTSW	8	112,185,579 (GRCm39)	missense	possibly damaging	0.90
R0526:Wdr59	UTSW	8	112,207,172 (GRCm39)	small deletion	probably benign
R0534:Wdr59	UTSW	8	112,207,172 (GRCm39)	small deletion	probably benign
R0601:Wdr59	UTSW	8	112,207,172 (GRCm39)	small deletion	probably benign
R1144:Wdr59	UTSW	8	112,213,576 (GRCm39)	missense	probably benign	0.09
R1571:Wdr59	UTSW	8	112,177,682 (GRCm39)	missense	probably damaging	0.98
R1661:Wdr59	UTSW	8	112,205,994 (GRCm39)	missense	probably damaging	1.00
R1665:Wdr59	UTSW	8	112,205,994 (GRCm39)	missense	probably damaging	1.00
R1839:Wdr59	UTSW	8	112,211,972 (GRCm39)	missense	probably benign
R1856:Wdr59	UTSW	8	112,202,813 (GRCm39)	missense	probably damaging	1.00
R1872:Wdr59	UTSW	8	112,185,649 (GRCm39)	missense	probably damaging	1.00
R1921:Wdr59	UTSW	8	112,213,582 (GRCm39)	nonsense	probably null
R1965:Wdr59	UTSW	8	112,177,709 (GRCm39)	missense	probably damaging	1.00
R1966:Wdr59	UTSW	8	112,177,535 (GRCm39)	missense	possibly damaging	0.92
R1977:Wdr59	UTSW	8	112,185,270 (GRCm39)	missense	probably benign	0.00
R2019:Wdr59	UTSW	8	112,193,425 (GRCm39)	missense	probably damaging	1.00
R4245:Wdr59	UTSW	8	112,216,996 (GRCm39)	missense	possibly damaging	0.63
R4471:Wdr59	UTSW	8	112,193,419 (GRCm39)	critical splice donor site	probably null
R4820:Wdr59	UTSW	8	112,207,446 (GRCm39)	missense	probably benign	0.19
R5198:Wdr59	UTSW	8	112,208,620 (GRCm39)	missense	probably benign	0.00
R5540:Wdr59	UTSW	8	112,211,816 (GRCm39)	missense	possibly damaging	0.84
R5571:Wdr59	UTSW	8	112,192,463 (GRCm39)	missense	probably damaging	1.00
R6166:Wdr59	UTSW	8	112,199,293 (GRCm39)	missense	probably damaging	1.00
R6732:Wdr59	UTSW	8	112,227,684 (GRCm39)	missense	probably damaging	1.00
R6767:Wdr59	UTSW	8	112,202,733 (GRCm39)	missense	probably damaging	1.00
R6823:Wdr59	UTSW	8	112,185,672 (GRCm39)	missense	possibly damaging	0.95
R6841:Wdr59	UTSW	8	112,223,512 (GRCm39)	missense	probably damaging	1.00
R6888:Wdr59	UTSW	8	112,177,675 (GRCm39)	missense	probably benign	0.00
R6974:Wdr59	UTSW	8	112,187,420 (GRCm39)	missense	possibly damaging	0.86
R6982:Wdr59	UTSW	8	112,187,445 (GRCm39)	missense	probably benign	0.00
R7066:Wdr59	UTSW	8	112,192,477 (GRCm39)	missense	probably benign	0.07
R7154:Wdr59	UTSW	8	112,185,367 (GRCm39)	missense
R7176:Wdr59	UTSW	8	112,219,388 (GRCm39)	missense
R7286:Wdr59	UTSW	8	112,192,494 (GRCm39)	missense
R7332:Wdr59	UTSW	8	112,220,986 (GRCm39)	missense
R7537:Wdr59	UTSW	8	112,217,001 (GRCm39)	missense
R7614:Wdr59	UTSW	8	112,219,394 (GRCm39)	missense
R7758:Wdr59	UTSW	8	112,207,117 (GRCm39)	missense
R7800:Wdr59	UTSW	8	112,248,570 (GRCm39)	missense
R7861:Wdr59	UTSW	8	112,220,912 (GRCm39)	missense
R8137:Wdr59	UTSW	8	112,212,011 (GRCm39)	missense
R8726:Wdr59	UTSW	8	112,223,466 (GRCm39)	missense
R8942:Wdr59	UTSW	8	112,211,808 (GRCm39)	missense	probably benign
R9318:Wdr59	UTSW	8	112,177,700 (GRCm39)	missense
X0026:Wdr59	UTSW	8	112,205,972 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TTGGAGCAGAGTCAGGTCAGCATC -3'
(R):5'- TGTCACACATCACACATGGGCTAC -3'

Sequencing Primer
(F):5'- TCAGGTCAGCATCTGGCAC -3'
(R):5'- GAACCCAGGCTTTCTTATCTGAAG -3'

Posted On

2014-03-14