Mutagenetix > Incidental Mutation

Incidental Mutation 'R1452:Wdsub1'

161047

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

039507-MU

Accession Numbers

Essential gene?

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

Stock #

R1452 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59682708-59712935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59707144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 14 (D14E)

Gene Model

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

AlphaFold

Q9D0I6

Predicted Effect

probably benign
Transcript: ENSMUST00000028368
AA Change: D150E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028368
Gene: ENSMUSG00000026988
AA Change: D150E

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: D150E

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000099812
Gene: ENSMUSG00000026988
AA Change: D150E

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 benign
Transcript: ENSMUST00000128671
AA Change: D150E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121242
Gene: ENSMUSG00000026988
AA Change: D150E

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 benign
Transcript: ENSMUST00000133809
AA Change: D29E

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000114814
Gene: ENSMUSG00000026988
AA Change: D29E

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 null
Transcript: ENSMUST00000139689
AA Change: D14E

SMART Domains

Protein: ENSMUSP00000121438
Gene: ENSMUSG00000026988
AA Change: D14E

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 benign
Transcript: ENSMUST00000140475
AA Change: D150E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114811
Gene: ENSMUSG00000026988
AA Change: D150E

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: ENSMUST00000144343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140852

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.8%
20x: 87.5%

Validation Efficiency

99% (70/71)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,655,015 (GRCm39)	I1446M	probably benign	Het
Acaca	T	A	11: 84,185,885 (GRCm39)		probably benign	Het
Adgre4	A	T	17: 56,091,996 (GRCm39)	E85D	probably benign	Het
Akt3	A	T	1: 176,958,633 (GRCm39)	Y26N	possibly damaging	Het
Arl15	T	C	13: 114,104,319 (GRCm39)	V132A	probably benign	Het
Atp6v1h	A	G	1: 5,168,360 (GRCm39)		probably benign	Het
Atrip	T	A	9: 108,901,727 (GRCm39)	D110V	probably damaging	Het
Bahcc1	T	G	11: 120,173,065 (GRCm39)		probably benign	Het
Cd53	C	T	3: 106,676,275 (GRCm39)	G31S	probably damaging	Het
Cdk14	T	C	5: 4,938,927 (GRCm39)	S404G	possibly damaging	Het
Cers3	A	T	7: 66,433,152 (GRCm39)	K156N	probably damaging	Het
Colgalt2	C	A	1: 152,379,904 (GRCm39)	L448M	probably damaging	Het
Cox15	G	T	19: 43,735,344 (GRCm39)	T141K	probably damaging	Het
Csnk2a2	C	T	8: 96,184,003 (GRCm39)		probably benign	Het
Cyp2b10	A	T	7: 25,624,813 (GRCm39)		probably benign	Het
Cyp2c55	A	G	19: 38,999,534 (GRCm39)	Y80C	probably damaging	Het
Depdc1a	A	G	3: 159,232,328 (GRCm39)	Y693C	possibly damaging	Het
Des	T	C	1: 75,340,121 (GRCm39)	S343P	probably damaging	Het
Dync1i2	T	C	2: 71,080,207 (GRCm39)		probably benign	Het
Eif3m	T	A	2: 104,837,122 (GRCm39)	Q199L	probably damaging	Het
Emsy	G	T	7: 98,249,881 (GRCm39)	T802K	probably damaging	Het
Endov	A	G	11: 119,382,651 (GRCm39)	T33A	probably damaging	Het
Epb41l5	G	A	1: 119,476,896 (GRCm39)	T728I	probably damaging	Het
Fbxo39	A	G	11: 72,209,228 (GRCm39)	I363V	probably benign	Het
Gm8674	C	T	13: 50,054,553 (GRCm39)		noncoding transcript	Het
Il6st	T	A	13: 112,617,998 (GRCm39)	N137K	possibly damaging	Het
Inf2	A	G	12: 112,567,778 (GRCm39)	N136S	probably damaging	Het
Iqub	A	T	6: 24,491,558 (GRCm39)	I376N	probably benign	Het
Kansl3	A	G	1: 36,393,874 (GRCm39)		probably benign	Het
Kbtbd2	A	T	6: 56,758,909 (GRCm39)	H71Q	probably damaging	Het
Lgals8	G	T	13: 12,468,208 (GRCm39)	Y140*	probably null	Het
Mab21l4	T	C	1: 93,080,661 (GRCm39)	Y415C	probably damaging	Het
Macf1	T	A	4: 123,387,791 (GRCm39)	I924L	probably benign	Het
Mcoln2	A	T	3: 145,887,569 (GRCm39)	T329S	possibly damaging	Het
Mex3d	A	T	10: 80,217,354 (GRCm39)	L621Q	probably damaging	Het
Mmut	A	G	17: 41,248,359 (GRCm39)		probably benign	Het
Ncor1	T	C	11: 62,225,457 (GRCm39)	H1038R	probably damaging	Het
Neb	A	G	2: 52,161,309 (GRCm39)		probably null	Het
Ngrn	A	G	7: 79,914,520 (GRCm39)	T224A	probably benign	Het
Nin	G	A	12: 70,064,424 (GRCm39)	R2019*	probably null	Het
Nphp4	C	G	4: 152,631,475 (GRCm39)	Q792E	probably damaging	Het
Or13e8	C	T	4: 43,696,823 (GRCm39)	V117M	probably benign	Het
Or2z9	C	T	8: 72,854,020 (GRCm39)	Q139*	probably null	Het
Or4c3d	C	T	2: 89,882,015 (GRCm39)	V218I	possibly damaging	Het
Or5d38	C	T	2: 87,954,655 (GRCm39)	V225I	probably benign	Het
Or8k3	T	A	2: 86,058,799 (GRCm39)	N172I	probably damaging	Het
Pde4dip	C	A	3: 97,631,418 (GRCm39)	V1164L	probably damaging	Het
Plppr1	A	G	4: 49,301,067 (GRCm39)		probably benign	Het
Pole2	G	A	12: 69,254,703 (GRCm39)	L381F	probably benign	Het
Ppp2r5e	A	G	12: 75,516,310 (GRCm39)		probably benign	Het
Prim2	T	A	1: 33,669,485 (GRCm39)	E163D	probably benign	Het
Prrc2b	A	T	2: 32,084,997 (GRCm39)	D296V	probably damaging	Het
Pter	A	G	2: 12,983,432 (GRCm39)		probably benign	Het
Resf1	A	T	6: 149,228,130 (GRCm39)	K392I	probably damaging	Het
Robo2	C	A	16: 73,758,798 (GRCm39)	V662L	probably damaging	Het
Sirpd	G	T	3: 15,397,212 (GRCm39)	T24K	unknown	Het
Slco1b2	A	T	6: 141,617,926 (GRCm39)	I424F	probably benign	Het
Snx29	A	T	16: 11,449,335 (GRCm39)	H260L	probably damaging	Het
Stil	A	G	4: 114,896,392 (GRCm39)	N959S	probably benign	Het
Taar8c	A	T	10: 23,977,508 (GRCm39)	D101E	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpc6	G	A	9: 8,653,148 (GRCm39)	M573I	probably damaging	Het
Tsr1	A	T	11: 74,790,425 (GRCm39)	D171V	probably benign	Het
Ube4b	T	C	4: 149,455,626 (GRCm39)	T348A	probably damaging	Het
Vmn1r85	A	T	7: 12,818,808 (GRCm39)	I112N	probably damaging	Het
Vps36	A	G	8: 22,708,226 (GRCm39)		probably null	Het
Wdfy3	G	A	5: 102,085,604 (GRCm39)	A630V	possibly damaging	Het
Ylpm1	T	C	12: 85,077,157 (GRCm39)	I1294T	possibly damaging	Het
Zdhhc17	A	G	10: 110,790,936 (GRCm39)	F378L	probably benign	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
R1437:Wdsub1	UTSW	2	59,708,477 (GRCm39)	missense	probably damaging	0.98
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'- AATGGAGAGGCCCTCGGTACTAAC -3'
(R):5'- AGAGAGTGTGTCAGTGAGTAGCGTC -3'

Sequencing Primer
(F):5'- CTCGGTACTAACAATGACGTGG -3'
(R):5'- AGTGAGTAGCGTCTGATGCTTTC -3'

Posted On

2014-03-14