Mutagenetix > Incidental Mutation

Incidental Mutation 'R4506:Wdtc1'

332005

Institutional Source

Beutler Lab

Gene Symbol

Wdtc1

Ensembl Gene

ENSMUSG00000037622

Gene Name

WD and tetratricopeptide repeats 1

Synonyms

adipose, LOC230796, adp

MMRRC Submission

041584-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133292459-133353481 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 133308819 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 137 (V137M)

Ref Sequence

ENSEMBL: ENSMUSP00000101526 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043305] [ENSMUST00000105906]

AlphaFold

Q80ZK9

Predicted Effect

probably damaging
Transcript: ENSMUST00000043305
AA Change: V137M

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

SMART Domains

Protein: ENSMUSP00000040647
Gene: ENSMUSG00000037622
AA Change: V137M

Domain	Start	End	E-Value	Type
WD40	36	75	4.58e-8	SMART
WD40	79	120	1.24e-4	SMART
WD40	123	163	2.58e-1	SMART
WD40	170	213	4.42e1	SMART
Pfam:TPR_11	362	429	1.1e-15	PFAM
Pfam:TPR_2	432	457	1.1e-3	PFAM
low complexity region	488	499	N/A	INTRINSIC
WD40	523	566	7.16e-1	SMART
WD40	569	608	1.55e-5	SMART
low complexity region	655	670	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105906
AA Change: V137M

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

SMART Domains

Protein: ENSMUSP00000101526
Gene: ENSMUSG00000037622
AA Change: V137M

Domain	Start	End	E-Value	Type
WD40	36	75	4.58e-8	SMART
WD40	79	120	1.24e-4	SMART
WD40	123	163	2.58e-1	SMART
WD40	170	213	4.42e1	SMART
Blast:WD40	261	296	5e-12	BLAST
Pfam:TPR_11	361	429	2.9e-16	PFAM
Pfam:TPR_2	432	457	1.4e-3	PFAM
low complexity region	488	499	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135929

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140976

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145426

Meta Mutation Damage Score

0.4563

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (42/43)

MGI Phenotype

PHENOTYPE: Mice heterozygous for a gene trapped allele are obese and insulin resistant with significantly elevated plasma insulin and leptin levels. Although a number of adult homozygotes are also described as obese, the majority of homozygotes die in utero thus precluding statistically significant analyses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,261	P137T	probably damaging	Het
Abcc5	A	T	16: 20,333,695	I1367N	probably damaging	Het
Ace	T	A	11: 105,976,666	L152Q	probably damaging	Het
Adam19	G	A	11: 46,118,444	D232N	possibly damaging	Het
Anapc4	A	T	5: 52,835,730	N61I	possibly damaging	Het
Ap5m1	T	C	14: 49,073,761	V96A	probably damaging	Het
Atr	T	A	9: 95,865,237	C191S	probably benign	Het
Carmil3	GGACGA	GGA	14: 55,499,476		probably benign	Het
Cnot6l	A	T	5: 96,086,174	V326E	possibly damaging	Het
Fcer2a	A	T	8: 3,688,603		probably null	Het
Fgfr3	A	G	5: 33,729,999	T221A	probably damaging	Het
Gm6632	C	T	5: 59,054,478		noncoding transcript	Het
Gm8909	A	T	17: 36,161,480		probably benign	Het
Gpr158	T	A	2: 21,826,999	M970K	probably damaging	Het
Ip6k3	A	T	17: 27,145,180	L298Q	possibly damaging	Het
Itpr1	A	G	6: 108,432,686	D1727G	probably damaging	Het
Kdm2b	T	C	5: 122,888,625	T589A	possibly damaging	Het
Krtcap2	A	G	3: 89,246,256		probably benign	Het
Map3k13	A	G	16: 21,922,178	S752G	probably benign	Het
Mvb12a	G	T	8: 71,543,459	A86S	probably benign	Het
Nktr	T	A	9: 121,748,883		probably benign	Het
Olfr160	C	T	9: 37,711,464	V272I	probably benign	Het
Olfr393	A	T	11: 73,847,695	C143*	probably null	Het
Parp4	T	A	14: 56,652,304	N1847K	unknown	Het
Pcdhga8	G	C	18: 37,816,763	V411L	probably damaging	Het
Piwil4	T	C	9: 14,725,963	T352A	probably damaging	Het
Ric8a	A	G	7: 140,858,516	I223V	probably benign	Het
Slc25a51	C	T	4: 45,399,768	V141M	probably benign	Het
Slc7a5	A	T	8: 121,887,495		probably null	Het
Slc7a9	A	T	7: 35,453,420	T88S	probably damaging	Het
Tbrg1	T	A	9: 37,654,395	E87V	probably damaging	Het
Tnfsf4	T	C	1: 161,417,174	S145P	probably damaging	Het
Tomm34	C	A	2: 164,054,372		probably null	Het
Trpv3	A	G	11: 73,295,324	N647S	probably benign	Het
Upf1	G	A	8: 70,337,566	R637C	probably damaging	Het
Vmn2r23	A	T	6: 123,702,925	Q35H	probably damaging	Het
Zfp276	G	A	8: 123,264,927		probably null	Het
Zfp90	C	T	8: 106,424,864	P403L	possibly damaging	Het

Other mutations in Wdtc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01653:Wdtc1	APN	4	133295232	missense	probably damaging	1.00
IGL02005:Wdtc1	APN	4	133308914	missense	probably benign	0.14
IGL02078:Wdtc1	APN	4	133305960	missense	probably damaging	1.00
IGL02146:Wdtc1	APN	4	133301765	missense	probably benign	0.00
IGL02724:Wdtc1	APN	4	133297478	missense	possibly damaging	0.78
IGL03196:Wdtc1	APN	4	133295337	missense	probably damaging	1.00
Furry	UTSW	4	133302382	critical splice donor site	probably null
pear	UTSW	4	133294391	splice site	probably null
Piliated	UTSW	4	133296471	missense	probably damaging	1.00
R0448:Wdtc1	UTSW	4	133297500	missense	probably damaging	1.00
R0501:Wdtc1	UTSW	4	133308840	missense	possibly damaging	0.88
R0743:Wdtc1	UTSW	4	133300661	missense	probably damaging	0.99
R1170:Wdtc1	UTSW	4	133297546	missense	probably damaging	0.99
R1439:Wdtc1	UTSW	4	133301807	missense	probably benign
R1456:Wdtc1	UTSW	4	133297428	missense	possibly damaging	0.83
R1833:Wdtc1	UTSW	4	133308742	splice site	probably benign
R4687:Wdtc1	UTSW	4	133296431	missense	probably damaging	1.00
R4739:Wdtc1	UTSW	4	133301799	missense	possibly damaging	0.68
R4967:Wdtc1	UTSW	4	133294343	missense	probably damaging	0.99
R5032:Wdtc1	UTSW	4	133308851	missense	possibly damaging	0.89
R5193:Wdtc1	UTSW	4	133294367	nonsense	probably null
R5448:Wdtc1	UTSW	4	133294297	missense	probably benign
R5593:Wdtc1	UTSW	4	133294391	splice site	probably null
R5890:Wdtc1	UTSW	4	133294362	missense	unknown
R7536:Wdtc1	UTSW	4	133295250	missense	probably damaging	1.00
R7609:Wdtc1	UTSW	4	133296437	missense	probably damaging	1.00
R8127:Wdtc1	UTSW	4	133302382	critical splice donor site	probably null
R8129:Wdtc1	UTSW	4	133304149	critical splice donor site	probably null
R8431:Wdtc1	UTSW	4	133322170	critical splice donor site	probably null
R8725:Wdtc1	UTSW	4	133313803	missense	probably damaging	1.00
R8735:Wdtc1	UTSW	4	133304200	nonsense	probably null
R8937:Wdtc1	UTSW	4	133304159	missense	probably damaging	1.00
R9357:Wdtc1	UTSW	4	133296471	missense	probably damaging	1.00
R9387:Wdtc1	UTSW	4	133308747	critical splice donor site	probably null
R9415:Wdtc1	UTSW	4	133295373	missense	possibly damaging	0.91
R9476:Wdtc1	UTSW	4	133322218	missense	probably damaging	0.96
R9510:Wdtc1	UTSW	4	133322218	missense	probably damaging	0.96
R9738:Wdtc1	UTSW	4	133295293	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCGTGTCTGAAGGGAACAG -3'
(R):5'- CAGGCCATTCTCCTTCAGTAGC -3'

Sequencing Primer
(F):5'- TCTGAAGGGAACAGGGCAAAC -3'
(R):5'- AGTAGCCAGCTCTCTCCTATC -3'

Posted On

2015-07-21