Mutagenetix > Incidental Mutation

Incidental Mutation 'R1437:Wdsub1'

161271

Institutional Source

Beutler Lab

Gene Symbol

Wdsub1

Ensembl Gene

ENSMUSG00000026988

Gene Name

WD repeat, SAM and U-box domain containing 1

Synonyms

2610014F08Rik, 1700048E19Rik

MMRRC Submission

039492-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R1437 (G1)

Quality Score

151

Status

Not validated

Chromosome

Chromosomal Location

59682708-59712935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 59708477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 11 (Y11S)

Ref Sequence

ENSEMBL: ENSMUSP00000114814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028368] [ENSMUST00000102751] [ENSMUST00000128671] [ENSMUST00000133809] [ENSMUST00000140475]

AlphaFold

Q9D0I6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028368
AA Change: Y132S

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028368
Gene: ENSMUSG00000026988
AA Change: Y132S

Domain	Start	End	E-Value	Type
WD40	1	38	7.85e-7	SMART
WD40	43	82	1.96e-7	SMART
WD40	85	125	5.47e-6	SMART
WD40	128	167	1.5e-3	SMART
WD40	169	217	2.48e-4	SMART
WD40	227	266	4.91e-8	SMART
WD40	269	308	7.05e-9	SMART
SAM	327	394	1.12e-15	SMART
Ubox	405	468	1.69e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102751
AA Change: Y132S

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099812
Gene: ENSMUSG00000026988
AA Change: Y132S

Domain	Start	End	E-Value	Type
WD40	1	38	7.85e-7	SMART
WD40	43	82	1.96e-7	SMART
WD40	85	125	5.47e-6	SMART
WD40	128	167	1.5e-3	SMART
WD40	169	217	2.48e-4	SMART
WD40	227	266	4.91e-8	SMART
WD40	269	308	7.05e-9	SMART
SAM	327	394	1.12e-15	SMART
Pfam:U-box	402	423	9.3e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128671
AA Change: Y132S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121242
Gene: ENSMUSG00000026988
AA Change: Y132S

Domain	Start	End	E-Value	Type
WD40	1	38	7.85e-7	SMART
WD40	43	82	1.96e-7	SMART
WD40	85	125	5.47e-6	SMART
WD40	128	167	1.5e-3	SMART
Blast:WD40	169	194	1e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131285

Predicted Effect

probably damaging
Transcript: ENSMUST00000133809
AA Change: Y11S

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114814
Gene: ENSMUSG00000026988
AA Change: Y11S

Domain	Start	End	E-Value	Type
WD40	7	46	1.5e-3	SMART
WD40	48	96	2.48e-4	SMART
WD40	106	145	6e-3	SMART
low complexity region	163	175	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139689

SMART Domains

Protein: ENSMUSP00000121438
Gene: ENSMUSG00000026988

Domain	Start	End	E-Value	Type
WD40	1	32	4.28e0	SMART
WD40	34	82	2.48e-4	SMART
WD40	92	131	4.91e-8	SMART
WD40	134	173	7.05e-9	SMART
Pfam:SAM_2	193	241	5.3e-10	PFAM
Pfam:SAM_1	194	241	2.4e-11	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140475
AA Change: Y132S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114811
Gene: ENSMUSG00000026988
AA Change: Y132S

Domain	Start	End	E-Value	Type
WD40	1	38	7.85e-7	SMART
WD40	43	82	1.96e-7	SMART
WD40	85	125	5.47e-6	SMART
WD40	128	167	1.5e-3	SMART
Blast:WD40	169	194	1e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144343

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,871,436 (GRCm39)	V330E	possibly damaging	Het
Abcb5	A	G	12: 118,838,497 (GRCm39)	S1022P	probably damaging	Het
Abcc8	A	G	7: 45,829,237 (GRCm39)	I46T	probably damaging	Het
Add3	A	G	19: 53,222,109 (GRCm39)	R275G	probably damaging	Het
Akap1	C	A	11: 88,735,577 (GRCm39)	G362*	probably null	Het
Arhgef4	A	G	1: 34,763,026 (GRCm39)	T761A	unknown	Het
Asap1	A	T	15: 63,991,956 (GRCm39)	L751Q	probably damaging	Het
Atg2a	C	A	19: 6,300,646 (GRCm39)	P741H	probably damaging	Het
Atxn10	T	C	15: 85,243,675 (GRCm39)	I46T	possibly damaging	Het
BC049715	C	A	6: 136,817,090 (GRCm39)	A110E	probably damaging	Het
Bltp1	C	A	3: 36,996,578 (GRCm39)	H1097N	possibly damaging	Het
Btbd7	T	A	12: 102,754,349 (GRCm39)	T806S	possibly damaging	Het
Cdk4	C	A	10: 126,900,558 (GRCm39)	P108H	probably damaging	Het
Cep290	A	G	10: 100,407,963 (GRCm39)	T2391A	probably benign	Het
Col6a3	G	T	1: 90,729,098 (GRCm39)	A1281E	probably damaging	Het
Cpa5	A	T	6: 30,624,654 (GRCm39)	I165F	probably damaging	Het
Ctdp1	G	T	18: 80,493,428 (GRCm39)	Q356K	probably benign	Het
Ddx21	A	G	10: 62,434,369 (GRCm39)	M130T	unknown	Het
Epha5	T	G	5: 84,381,555 (GRCm39)	D432A	probably damaging	Het
Esr1	ACGCCGCCGCCGCCGCCGCCGCCGCCGCC	ACGCCGCCGCCGCCGCCGCCGCCGCC	10: 4,662,571 (GRCm39)		probably benign	Het
Fads2	A	T	19: 10,069,193 (GRCm39)	L77Q	probably benign	Het
Fbn2	A	T	18: 58,186,731 (GRCm39)	H1723Q	possibly damaging	Het
Fbxo42	C	T	4: 140,895,165 (GRCm39)	H43Y	probably benign	Het
Fry	A	G	5: 150,233,890 (GRCm39)	T121A	possibly damaging	Het
Gpr156	T	G	16: 37,808,904 (GRCm39)	S209A	probably damaging	Het
Hey2	T	C	10: 30,709,845 (GRCm39)	T303A	probably benign	Het
Hivep1	T	A	13: 42,310,616 (GRCm39)	M952K	probably benign	Het
Hydin	C	T	8: 111,308,617 (GRCm39)	Q3968*	probably null	Het
Jup	T	C	11: 100,274,402 (GRCm39)	E96G	probably benign	Het
Kcnn1	A	G	8: 71,297,195 (GRCm39)	I504T	probably benign	Het
Klk1b9	T	C	7: 43,629,114 (GRCm39)	V174A	probably damaging	Het
Lama3	G	C	18: 12,682,284 (GRCm39)	M1083I	possibly damaging	Het
Lcmt2	A	G	2: 120,969,377 (GRCm39)	S569P	probably benign	Het
Lrfn2	T	C	17: 49,378,253 (GRCm39)	S445P	probably damaging	Het
Lrp3	C	A	7: 34,912,595 (GRCm39)	G31W	probably damaging	Het
Lrrc8b	T	C	5: 105,629,568 (GRCm39)	L638P	probably damaging	Het
Mief2	C	T	11: 60,621,769 (GRCm39)	T113M	probably benign	Het
Mrps2	T	C	2: 28,358,899 (GRCm39)	F76S	probably damaging	Het
Naca	A	G	10: 127,878,048 (GRCm39)		probably benign	Het
Ndst4	C	A	3: 125,355,099 (GRCm39)	R336S	probably damaging	Het
Nr1i3	CACTCAACACTAC	CAC	1: 171,044,710 (GRCm39)		probably null	Het
Nr5a1	T	A	2: 38,600,685 (GRCm39)	T29S	probably benign	Het
Or5ak23	T	C	2: 85,245,218 (GRCm39)	I2V	probably benign	Het
Or5as1	C	T	2: 86,980,115 (GRCm39)	V297M	possibly damaging	Het
Pald1	A	G	10: 61,177,064 (GRCm39)	F662S	possibly damaging	Het
Pdcd4	G	T	19: 53,897,674 (GRCm39)	A59S	probably damaging	Het
Pde4a	T	C	9: 21,103,888 (GRCm39)		probably null	Het
Pkd1	T	A	17: 24,814,106 (GRCm39)	S4159T	probably damaging	Het
Plaat1	C	A	16: 29,046,922 (GRCm39)	A147E	possibly damaging	Het
Plch1	C	A	3: 63,604,954 (GRCm39)	R1641L	probably benign	Het
Plec	G	T	15: 76,073,481 (GRCm39)	P308Q	probably damaging	Het
Pnkp	A	G	7: 44,509,826 (GRCm39)	S262G	possibly damaging	Het
Pou2f1	A	G	1: 165,719,399 (GRCm39)	V504A	probably damaging	Het
Prepl	G	A	17: 85,395,785 (GRCm39)	R66W	probably damaging	Het
Rasgrf2	T	C	13: 92,167,396 (GRCm39)	K226E	probably damaging	Het
Ror1	T	A	4: 100,269,306 (GRCm39)	F381L	probably benign	Het
Sbsn	C	T	7: 30,452,478 (GRCm39)	Q498*	probably null	Het
Scgb2b19	T	C	7: 32,977,980 (GRCm39)	I106V	probably benign	Het
Sf3a2	G	A	10: 80,640,040 (GRCm39)		probably benign	Het
Sis	T	C	3: 72,841,475 (GRCm39)	H780R	probably damaging	Het
Slc28a3	G	T	13: 58,706,389 (GRCm39)	C617*	probably null	Het
Slc44a1	T	A	4: 53,561,006 (GRCm39)	V574D	probably damaging	Het
Slc8a3	T	A	12: 81,362,760 (GRCm39)	T20S	probably damaging	Het
Stt3b	T	A	9: 115,083,995 (GRCm39)	I394F	probably damaging	Het
Ubap1l	T	A	9: 65,279,337 (GRCm39)	V212D	possibly damaging	Het
Ugt2b35	T	C	5: 87,148,890 (GRCm39)	V47A	probably benign	Het
Vmn2r114	A	G	17: 23,510,185 (GRCm39)	F765S	probably damaging	Het
Vps50	C	T	6: 3,517,852 (GRCm39)	Q97*	probably null	Het
Vsig10	A	G	5: 117,489,635 (GRCm39)	Q467R	probably damaging	Het
Zbtb11	T	G	16: 55,811,983 (GRCm39)		probably null	Het

Other mutations in Wdsub1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02211:Wdsub1	APN	2	59,689,080 (GRCm39)	missense	probably damaging	1.00
IGL02887:Wdsub1	APN	2	59,683,176 (GRCm39)	missense	probably damaging	0.99
IGL02984:Wdsub1	UTSW	2	59,707,173 (GRCm39)	missense	probably damaging	1.00
R0116:Wdsub1	UTSW	2	59,707,009 (GRCm39)	splice site	probably null
R0504:Wdsub1	UTSW	2	59,708,669 (GRCm39)	missense	possibly damaging	0.93
R1452:Wdsub1	UTSW	2	59,707,144 (GRCm39)	missense	probably null
R1566:Wdsub1	UTSW	2	59,707,059 (GRCm39)	missense	probably damaging	1.00
R1767:Wdsub1	UTSW	2	59,689,058 (GRCm39)	missense	probably damaging	1.00
R2938:Wdsub1	UTSW	2	59,703,630 (GRCm39)	missense	possibly damaging	0.68
R4209:Wdsub1	UTSW	2	59,707,149 (GRCm39)	missense	probably damaging	1.00
R4583:Wdsub1	UTSW	2	59,708,661 (GRCm39)	missense	probably damaging	1.00
R4794:Wdsub1	UTSW	2	59,693,188 (GRCm39)	missense	possibly damaging	0.78
R4803:Wdsub1	UTSW	2	59,700,743 (GRCm39)	intron	probably benign
R4987:Wdsub1	UTSW	2	59,700,737 (GRCm39)	intron	probably benign
R4989:Wdsub1	UTSW	2	59,700,758 (GRCm39)	intron	probably benign
R5311:Wdsub1	UTSW	2	59,708,873 (GRCm39)	utr 5 prime	probably benign
R5402:Wdsub1	UTSW	2	59,700,822 (GRCm39)	missense	probably benign
R5408:Wdsub1	UTSW	2	59,691,887 (GRCm39)	unclassified	probably benign
R5572:Wdsub1	UTSW	2	59,693,051 (GRCm39)	missense	possibly damaging	0.95
R5681:Wdsub1	UTSW	2	59,683,239 (GRCm39)	missense	probably damaging	1.00
R5864:Wdsub1	UTSW	2	59,708,819 (GRCm39)	missense	probably damaging	1.00
R6582:Wdsub1	UTSW	2	59,708,652 (GRCm39)	missense	probably damaging	1.00
R6638:Wdsub1	UTSW	2	59,700,785 (GRCm39)	intron	probably benign
R6678:Wdsub1	UTSW	2	59,692,975 (GRCm39)	missense	probably benign	0.45
R6842:Wdsub1	UTSW	2	59,708,532 (GRCm39)	missense	probably benign	0.09
R6907:Wdsub1	UTSW	2	59,692,028 (GRCm39)	missense	possibly damaging	0.59
R7041:Wdsub1	UTSW	2	59,683,224 (GRCm39)	missense	probably damaging	1.00
R7288:Wdsub1	UTSW	2	59,708,487 (GRCm39)	missense	possibly damaging	0.50
R7769:Wdsub1	UTSW	2	59,708,763 (GRCm39)	missense	probably damaging	1.00
R7942:Wdsub1	UTSW	2	59,707,061 (GRCm39)	missense	probably damaging	1.00
R8291:Wdsub1	UTSW	2	59,693,018 (GRCm39)	missense	probably damaging	1.00
R8309:Wdsub1	UTSW	2	59,704,578 (GRCm39)	unclassified	probably benign
R8458:Wdsub1	UTSW	2	59,692,045 (GRCm39)	missense	probably benign	0.00
R8775:Wdsub1	UTSW	2	59,693,014 (GRCm39)	missense	probably damaging	1.00
R8775-TAIL:Wdsub1	UTSW	2	59,693,014 (GRCm39)	missense	probably damaging	1.00
R8997:Wdsub1	UTSW	2	59,688,977 (GRCm39)	missense	probably damaging	1.00
X0023:Wdsub1	UTSW	2	59,707,098 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGGTGGAAATCACTCCTCACCAG -3'
(R):5'- ACGTTTTAGCATCGTGCTCGACAG -3'

Sequencing Primer
(F):5'- catgcctttaatcccagcac -3'
(R):5'- TGCTCGACAGACGGGAC -3'

Posted On

2014-03-14