Mutagenetix > Incidental Mutation

Incidental Mutation 'R0448:Wdtc1'

39433

Institutional Source

Beutler Lab

Gene Symbol

Wdtc1

Ensembl Gene

ENSMUSG00000037622

Gene Name

WD and tetratricopeptide repeats 1

Synonyms

adp, adipose, LOC230796

MMRRC Submission

038648-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0448 (G1)

Quality Score

142

Status

Validated

Chromosome

Chromosomal Location

133019770-133080792 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133024811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 462 (F462S)

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: F462S

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

SMART Domains

Protein: ENSMUSP00000040647
Gene: ENSMUSG00000037622
AA Change: F462S

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: F462S

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

SMART Domains

Protein: ENSMUSP00000101526
Gene: ENSMUSG00000037622
AA Change: F462S

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

Meta Mutation Damage Score

0.6808

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.1%

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,218,687 (GRCm39)	R232C	probably damaging	Het
Adam9	A	G	8: 25,454,926 (GRCm39)	S732P	probably damaging	Het
Add2	G	A	6: 86,069,901 (GRCm39)	V140I	probably benign	Het
Ahi1	G	A	10: 20,847,974 (GRCm39)	G461S	probably damaging	Het
Aoc1l2	A	T	6: 48,909,991 (GRCm39)	S643C	probably damaging	Het
Arhgef7	A	G	8: 11,869,659 (GRCm39)	T432A	possibly damaging	Het
Arsi	T	C	18: 61,050,374 (GRCm39)	I419T	probably damaging	Het
Brca1	G	A	11: 101,399,047 (GRCm39)	P1515L	possibly damaging	Het
Brcc3	T	A	X: 74,493,647 (GRCm39)	L222*	probably null	Het
Brpf3	A	T	17: 29,025,010 (GRCm39)	T28S	probably benign	Het
Cdc20b	T	A	13: 113,215,191 (GRCm39)	V253E	probably damaging	Het
Cnot6l	T	A	5: 96,227,905 (GRCm39)	S443C	probably benign	Het
Copg1	G	A	6: 87,881,908 (GRCm39)	A587T	probably benign	Het
Crebrf	A	G	17: 26,962,076 (GRCm39)	D391G	probably benign	Het
Crocc	A	T	4: 140,769,502 (GRCm39)	D283E	probably damaging	Het
Cryga	T	C	1: 65,142,318 (GRCm39)	N25S	probably benign	Het
Csnk1g1	T	C	9: 65,888,230 (GRCm39)	F90L	possibly damaging	Het
Cyp2j6	A	G	4: 96,433,965 (GRCm39)	V115A	probably benign	Het
Cyp3a11	T	C	5: 145,799,204 (GRCm39)	I328V	probably benign	Het
Dchs1	C	A	7: 105,415,134 (GRCm39)	E683D	probably benign	Het
Dnah9	T	C	11: 65,809,539 (GRCm39)		probably benign	Het
Dqx1	T	C	6: 83,037,326 (GRCm39)	S330P	probably damaging	Het
Epg5	A	G	18: 78,066,580 (GRCm39)	Y2160C	probably damaging	Het
Ercc5	T	C	1: 44,213,100 (GRCm39)	L742P	probably damaging	Het
Fcgbpl1	T	C	7: 27,839,660 (GRCm39)	I491T	probably benign	Het
Flt1	C	T	5: 147,503,204 (GRCm39)		probably benign	Het
Grip2	A	G	6: 91,756,194 (GRCm39)	S498P	probably damaging	Het
H2-T22	A	G	17: 36,353,278 (GRCm39)	L14P	possibly damaging	Het
Hephl1	C	T	9: 14,988,222 (GRCm39)	G629S	probably damaging	Het
Hsdl2	T	A	4: 59,606,523 (GRCm39)	M162K	unknown	Het
Kcnh8	C	A	17: 53,284,648 (GRCm39)		probably null	Het
Krt76	T	C	15: 101,799,082 (GRCm39)	Q201R	probably damaging	Het
Lrpprc	A	T	17: 85,078,322 (GRCm39)	Y319N	probably benign	Het
Lrrk2	T	G	15: 91,593,508 (GRCm39)	I489R	probably damaging	Het
Mboat1	G	T	13: 30,386,393 (GRCm39)	D136Y	probably damaging	Het
Mcmdc2	T	C	1: 10,010,767 (GRCm39)	*682Q	probably null	Het
Msx2	C	A	13: 53,622,431 (GRCm39)	R193L	probably damaging	Het
Nfatc4	T	G	14: 56,069,111 (GRCm39)	D625E	possibly damaging	Het
Nup153	T	C	13: 46,870,657 (GRCm39)	E86G	probably benign	Het
Or2g7	G	T	17: 38,378,563 (GRCm39)	R167L	probably benign	Het
Or4k45	T	A	2: 111,395,559 (GRCm39)	I77F	probably benign	Het
Pard3b	T	C	1: 62,205,628 (GRCm39)	L474P	probably damaging	Het
Pate11	T	A	9: 36,388,412 (GRCm39)	M79K	probably benign	Het
Pggt1b	A	T	18: 46,396,039 (GRCm39)		probably benign	Het
Pik3r2	A	G	8: 71,224,688 (GRCm39)		probably benign	Het
Prr14	A	G	7: 127,073,898 (GRCm39)		probably benign	Het
Rcbtb2	T	C	14: 73,415,869 (GRCm39)		probably benign	Het
Rufy2	G	A	10: 62,840,515 (GRCm39)	D429N	probably benign	Het
S1pr5	T	A	9: 21,155,503 (GRCm39)	T308S	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Serpina12	A	G	12: 104,004,354 (GRCm39)	S93P	probably benign	Het
Serpinb1b	T	G	13: 33,273,675 (GRCm39)	H123Q	probably benign	Het
Sftpc	C	T	14: 70,760,120 (GRCm39)	V46I	probably benign	Het
Skint8	T	A	4: 111,794,087 (GRCm39)	V159D	probably damaging	Het
Slc25a11	T	C	11: 70,536,405 (GRCm39)	N134S	probably benign	Het
Slc25a24	T	C	3: 109,064,332 (GRCm39)		probably benign	Het
Sorl1	C	G	9: 41,915,384 (GRCm39)	V1282L	probably damaging	Het
Sptan1	T	A	2: 29,916,822 (GRCm39)	I2170N	probably damaging	Het
Syne4	A	G	7: 30,014,345 (GRCm39)		probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tg	C	A	15: 66,636,291 (GRCm39)	P626Q	probably damaging	Het
Thoc6	T	A	17: 23,888,550 (GRCm39)	D196V	probably damaging	Het
Tpi1	A	G	6: 124,791,066 (GRCm39)	F57S	probably damaging	Het
Tril	A	G	6: 53,794,793 (GRCm39)	*810Q	probably null	Het
Trrap	T	A	5: 144,776,377 (GRCm39)	V2972D	possibly damaging	Het
Ttn	A	T	2: 76,591,624 (GRCm39)	V12688E	probably damaging	Het
Ttn	T	C	2: 76,551,283 (GRCm39)	M31370V	probably damaging	Het
Txndc11	A	G	16: 10,909,625 (GRCm39)	F307S	probably damaging	Het
Vmn1r40	C	T	6: 89,691,642 (GRCm39)	S153L	probably benign	Het
Vmn2r95	A	G	17: 18,672,005 (GRCm39)	T581A	possibly damaging	Het
Zfp101	A	G	17: 33,601,295 (GRCm39)	S154P	possibly damaging	Het
Zmym6	A	G	4: 127,002,487 (GRCm39)	N481D	probably benign	Het

Other mutations in Wdtc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01653:Wdtc1	APN	4	133,022,543 (GRCm39)	missense	probably damaging	1.00
IGL02005:Wdtc1	APN	4	133,036,225 (GRCm39)	missense	probably benign	0.14
IGL02078:Wdtc1	APN	4	133,033,271 (GRCm39)	missense	probably damaging	1.00
IGL02146:Wdtc1	APN	4	133,029,076 (GRCm39)	missense	probably benign	0.00
IGL02724:Wdtc1	APN	4	133,024,789 (GRCm39)	missense	possibly damaging	0.78
IGL03196:Wdtc1	APN	4	133,022,648 (GRCm39)	missense	probably damaging	1.00
Furry	UTSW	4	133,029,693 (GRCm39)	critical splice donor site	probably null
pear	UTSW	4	133,021,702 (GRCm39)	splice site	probably null
Piliated	UTSW	4	133,023,782 (GRCm39)	missense	probably damaging	1.00
R0501:Wdtc1	UTSW	4	133,036,151 (GRCm39)	missense	possibly damaging	0.88
R0743:Wdtc1	UTSW	4	133,027,972 (GRCm39)	missense	probably damaging	0.99
R1170:Wdtc1	UTSW	4	133,024,857 (GRCm39)	missense	probably damaging	0.99
R1439:Wdtc1	UTSW	4	133,029,118 (GRCm39)	missense	probably benign
R1456:Wdtc1	UTSW	4	133,024,739 (GRCm39)	missense	possibly damaging	0.83
R1833:Wdtc1	UTSW	4	133,036,053 (GRCm39)	splice site	probably benign
R4506:Wdtc1	UTSW	4	133,036,130 (GRCm39)	missense	probably damaging	1.00
R4687:Wdtc1	UTSW	4	133,023,742 (GRCm39)	missense	probably damaging	1.00
R4739:Wdtc1	UTSW	4	133,029,110 (GRCm39)	missense	possibly damaging	0.68
R4967:Wdtc1	UTSW	4	133,021,654 (GRCm39)	missense	probably damaging	0.99
R5032:Wdtc1	UTSW	4	133,036,162 (GRCm39)	missense	possibly damaging	0.89
R5193:Wdtc1	UTSW	4	133,021,678 (GRCm39)	nonsense	probably null
R5448:Wdtc1	UTSW	4	133,021,608 (GRCm39)	missense	probably benign
R5593:Wdtc1	UTSW	4	133,021,702 (GRCm39)	splice site	probably null
R5890:Wdtc1	UTSW	4	133,021,673 (GRCm39)	missense	unknown
R7536:Wdtc1	UTSW	4	133,022,561 (GRCm39)	missense	probably damaging	1.00
R7609:Wdtc1	UTSW	4	133,023,748 (GRCm39)	missense	probably damaging	1.00
R8127:Wdtc1	UTSW	4	133,029,693 (GRCm39)	critical splice donor site	probably null
R8129:Wdtc1	UTSW	4	133,031,460 (GRCm39)	critical splice donor site	probably null
R8431:Wdtc1	UTSW	4	133,049,481 (GRCm39)	critical splice donor site	probably null
R8725:Wdtc1	UTSW	4	133,041,114 (GRCm39)	missense	probably damaging	1.00
R8735:Wdtc1	UTSW	4	133,031,511 (GRCm39)	nonsense	probably null
R8937:Wdtc1	UTSW	4	133,031,470 (GRCm39)	missense	probably damaging	1.00
R9357:Wdtc1	UTSW	4	133,023,782 (GRCm39)	missense	probably damaging	1.00
R9387:Wdtc1	UTSW	4	133,036,058 (GRCm39)	critical splice donor site	probably null
R9415:Wdtc1	UTSW	4	133,022,684 (GRCm39)	missense	possibly damaging	0.91
R9476:Wdtc1	UTSW	4	133,049,529 (GRCm39)	missense	probably damaging	0.96
R9510:Wdtc1	UTSW	4	133,049,529 (GRCm39)	missense	probably damaging	0.96
R9738:Wdtc1	UTSW	4	133,022,604 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGAGTTTCACTGGGAGATGCTGAC -3'
(R):5'- TCAGAGATGGCCTAGAAGTAGCCAC -3'

Sequencing Primer
(F):5'- CCTTCTTCAGCCATGAAAAGTGAG -3'
(R):5'- GGAACCTTGTATCTGCCACAG -3'

Posted On

2013-05-23