Mutagenetix > Incidental Mutations

Incidental Mutation 'R7769:Wdsub1'

598440

Institutional Source

Beutler Lab

Gene Symbol

Wdsub1

Ensembl Gene

ENSMUSG00000026988

Gene Name

WD repeat, SAM and U-box domain containing 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R7769 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59852364-59882591 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59878419 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 37 (Y37H)

Ref Sequence

ENSEMBL: ENSMUSP00000028368 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000028368
AA Change: Y37H

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

SMART Domains

Protein: ENSMUSP00000028368
Gene: ENSMUSG00000026988
AA Change: Y37H

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 damaging
Transcript: ENSMUST00000102751
AA Change: Y37H

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

SMART Domains

Protein: ENSMUSP00000099812
Gene: ENSMUSG00000026988
AA Change: Y37H

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

probably damaging
Transcript: ENSMUST00000128671
AA Change: Y37H

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

SMART Domains

Protein: ENSMUSP00000121242
Gene: ENSMUSG00000026988
AA Change: Y37H

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

probably benign
Transcript: ENSMUST00000133809

SMART Domains

Protein: ENSMUSP00000114814
Gene: ENSMUSG00000026988

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

probably damaging
Transcript: ENSMUST00000140475
AA Change: Y37H

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

SMART Domains

Protein: ENSMUSP00000114811
Gene: ENSMUSG00000026988
AA Change: Y37H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (71/74)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	ACCAGCCC	ACC	14: 118,615,270		probably null	Het
Abhd14b	T	C	9: 106,451,620	Y147H	probably damaging	Het
Adam26b	C	A	8: 43,521,695	R90L	probably benign	Het
Agt	A	T	8: 124,564,550	M6K	probably benign	Het
Akr1c14	T	C	13: 4,059,644	S5P	probably benign	Het
Arhgef38	A	C	3: 133,149,622	S235A	unknown	Het
Cabp5	A	G	7: 13,400,733	D31G	probably benign	Het
Cacna1h	T	A	17: 25,385,805	D1178V	probably damaging	Het
Ccdc88a	A	T	11: 29,482,381	E1199D	probably damaging	Het
Cd244	A	T	1: 171,577,305	I242F	probably benign	Het
Clpb	G	T	7: 101,722,717	R220L	probably damaging	Het
Cltc	C	T	11: 86,719,493	R638H	probably damaging	Het
Cnr1	A	T	4: 33,944,892	M427L	probably benign	Het
Ctnnbl1	C	T	2: 157,737,470		probably benign	Het
Epb41l2	A	T	10: 25,493,573	T597S	probably benign	Het
Epb41l3	T	C	17: 69,238,426	Y163H	probably damaging	Het
Fam129b	A	G	2: 32,919,832	T314A	possibly damaging	Het
Fgg	A	G	3: 83,013,126		probably null	Het
Gm37240	A	T	3: 84,509,925	D162E	possibly damaging	Het
Gm44511	T	A	6: 128,820,277	T83S	probably benign	Het
Gm6685	T	A	11: 28,339,252	Y188F	probably benign	Het
Gprin2	A	T	14: 34,195,613	C67S	probably benign	Het
Grk6	A	G	13: 55,451,007	D140G	probably benign	Het
Hps3	T	C	3: 20,018,808		probably null	Het
Hspb7	T	C	4: 141,424,024	V159A	possibly damaging	Het
Ibsp	A	G	5: 104,306,005	N70D	probably benign	Het
Ibsp	A	G	5: 104,310,184	N196D	probably damaging	Het
Igfn1	A	T	1: 135,982,405	F147Y	possibly damaging	Het
Iqca	T	G	1: 90,077,810	D492A	possibly damaging	Het
Klhl42	T	C	6: 147,091,860	L110P	possibly damaging	Het
Krt12	C	T	11: 99,418,026	R395Q	probably damaging	Het
Lig4	A	T	8: 9,973,629	H50Q	possibly damaging	Het
Mttp	A	C	3: 138,103,112	L730R	probably damaging	Het
Muc16	T	A	9: 18,660,507	I239L	unknown	Het
Myo15	T	C	11: 60,509,149	F1723L		Het
Nin	T	C	12: 70,043,230	D1137G		Het
Nsf	C	T	11: 103,928,839	V35M	probably damaging	Het
Numa1	T	A	7: 101,999,000	I646K	possibly damaging	Het
Nwd2	A	G	5: 63,804,504	N477S	probably damaging	Het
Olfr59	T	A	11: 74,288,763	V39E	probably damaging	Het
P4ha3	A	G	7: 100,285,717	D62G	probably damaging	Het
Palb2	G	T	7: 122,128,415	D77E	probably benign	Het
Pcmtd2	T	C	2: 181,851,701	V233A	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,218,068		probably benign	Het
Pgr	C	T	9: 8,946,855	T699I	possibly damaging	Het
Pknox2	C	A	9: 36,895,306		probably null	Het
Ppp2r3d	T	C	9: 124,439,087	H110R		Het
Psmd11	T	A	11: 80,434,582		probably benign	Het
Pyroxd2	T	C	19: 42,747,562	N59S	probably benign	Het
Qser1	A	T	2: 104,758,576	D1662E	possibly damaging	Het
Rasip1	A	G	7: 45,628,815	Y180C	probably damaging	Het
Rbl1	T	C	2: 157,191,980	S393G	probably benign	Het
Rtn4r	C	T	16: 18,151,289	P194S	probably benign	Het
Ryr1	C	T	7: 29,098,785	G944D	probably damaging	Het
Scamp3	A	G	3: 89,177,991	D23G	probably damaging	Het
Secisbp2l	CTGGG	C	2: 125,771,545		probably benign	Het
Shcbp1	A	G	8: 4,739,232	I529T	probably damaging	Het
Slc5a10	T	A	11: 61,673,647	D502V	probably damaging	Het
Smad5	T	C	13: 56,733,042	I323T	possibly damaging	Het
Spred1	T	C	2: 117,177,449	S279P	probably benign	Het
Stag1	T	A	9: 100,944,827	V949D	possibly damaging	Het
Stxbp3	A	G	3: 108,800,828	S386P	probably benign	Het
Syt14	A	G	1: 192,984,324	S91P	unknown	Het
Thpo	C	T	16: 20,725,651	A211T	probably benign	Het
Tns1	T	A	1: 73,953,371	D716V	probably damaging	Het
Trbv26	A	G	6: 41,227,547	Y8C	probably benign	Het
Tshr	A	G	12: 91,538,270	I661V	probably damaging	Het
Uvrag	G	A	7: 98,979,721	P380S	probably damaging	Het
Vkorc1	G	T	7: 127,894,524	Y88*	probably null	Het
Vmn1r63	C	T	7: 5,803,370	V88M	probably damaging	Het
Zap70	A	G	1: 36,770,902	D31G	probably benign	Het
Zc3h12d	G	A	10: 7,867,626	A387T	probably benign	Het
Zfp438	C	T	18: 5,213,377	R527H	possibly damaging	Het

Other mutations in Wdsub1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02211:Wdsub1	APN	2	59858736	missense	probably damaging	1.00
IGL02887:Wdsub1	APN	2	59852832	missense	probably damaging	0.99
IGL02984:Wdsub1	UTSW	2	59876829	missense	probably damaging	1.00
R0116:Wdsub1	UTSW	2	59876665	splice site	probably null
R0504:Wdsub1	UTSW	2	59878325	missense	possibly damaging	0.93
R1437:Wdsub1	UTSW	2	59878133	missense	probably damaging	0.98
R1452:Wdsub1	UTSW	2	59876800	missense	probably null
R1566:Wdsub1	UTSW	2	59876715	missense	probably damaging	1.00
R1767:Wdsub1	UTSW	2	59858714	missense	probably damaging	1.00
R2938:Wdsub1	UTSW	2	59873286	missense	possibly damaging	0.68
R4209:Wdsub1	UTSW	2	59876805	missense	probably damaging	1.00
R4583:Wdsub1	UTSW	2	59878317	missense	probably damaging	1.00
R4794:Wdsub1	UTSW	2	59862844	missense	possibly damaging	0.78
R4803:Wdsub1	UTSW	2	59870399	intron	probably benign
R4987:Wdsub1	UTSW	2	59870393	intron	probably benign
R4989:Wdsub1	UTSW	2	59870414	intron	probably benign
R5311:Wdsub1	UTSW	2	59878529	utr 5 prime	probably benign
R5402:Wdsub1	UTSW	2	59870478	missense	probably benign
R5408:Wdsub1	UTSW	2	59861543	unclassified	probably benign
R5572:Wdsub1	UTSW	2	59862707	missense	possibly damaging	0.95
R5681:Wdsub1	UTSW	2	59852895	missense	probably damaging	1.00
R5864:Wdsub1	UTSW	2	59878475	missense	probably damaging	1.00
R6582:Wdsub1	UTSW	2	59878308	missense	probably damaging	1.00
R6638:Wdsub1	UTSW	2	59870441	intron	probably benign
R6678:Wdsub1	UTSW	2	59862631	missense	probably benign	0.45
R6842:Wdsub1	UTSW	2	59878188	missense	probably benign	0.09
R6907:Wdsub1	UTSW	2	59861684	missense	possibly damaging	0.59
R7041:Wdsub1	UTSW	2	59852880	missense	probably damaging	1.00
R7288:Wdsub1	UTSW	2	59878143	missense	possibly damaging	0.50
R7942:Wdsub1	UTSW	2	59876717	missense	probably damaging	1.00
R8291:Wdsub1	UTSW	2	59862674	missense	probably damaging	1.00
R8309:Wdsub1	UTSW	2	59874234	unclassified	probably benign
R8458:Wdsub1	UTSW	2	59861701	missense	probably benign	0.00
R8775:Wdsub1	UTSW	2	59862670	missense	probably damaging	1.00
R8775-TAIL:Wdsub1	UTSW	2	59862670	missense	probably damaging	1.00
X0023:Wdsub1	UTSW	2	59876754	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGCAATGGATCCATCGGC -3'
(R):5'- AGGGTGACATGTGACTTTGAC -3'

Sequencing Primer
(F):5'- CTGACGCTAGGTAGGCAGAGTC -3'
(R):5'- GACTGGTTTAAAAACTCACAGGCTG -3'

Posted On

2019-11-26