Mutagenetix > Incidental Mutation

Incidental Mutation 'R1170:Wdtc1'

99286

Institutional Source

Beutler Lab

Gene Symbol

Wdtc1

Ensembl Gene

ENSMUSG00000037622

Gene Name

WD and tetratricopeptide repeats 1

Synonyms

adp, adipose, LOC230796

MMRRC Submission

039243-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1170 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133019770-133080792 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133024857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 447 (Y447H)

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: Y447H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040647
Gene: ENSMUSG00000037622
AA Change: Y447H

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: Y447H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101526
Gene: ENSMUSG00000037622
AA Change: Y447H

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

0.1501

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

100% (105/105)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	A	G	1: 151,856,163 (GRCm39)		probably benign	Het
Akap9	G	A	5: 4,105,671 (GRCm39)	S2914N	probably benign	Het
Alk	T	C	17: 72,207,729 (GRCm39)	D1002G	probably damaging	Het
Ap3d1	A	G	10: 80,568,674 (GRCm39)		probably benign	Het
Asb15	T	C	6: 24,562,486 (GRCm39)		probably benign	Het
Asxl3	C	A	18: 22,657,564 (GRCm39)	P1858Q	probably benign	Het
Bltp1	T	C	3: 37,098,780 (GRCm39)	S1136P	probably damaging	Het
Bud31	T	A	5: 145,079,388 (GRCm39)		probably benign	Het
C1qtnf1	G	T	11: 118,339,095 (GRCm39)	R255L	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cage1	C	T	13: 38,206,856 (GRCm39)	E330K	probably damaging	Het
Catsperz	T	A	19: 6,902,317 (GRCm39)	N59I	probably benign	Het
Ccdc110	G	T	8: 46,394,922 (GRCm39)	S271I	probably benign	Het
Ccdc88b	T	A	19: 6,830,581 (GRCm39)	E787V	probably damaging	Het
Ccna2	A	T	3: 36,623,119 (GRCm39)		probably benign	Het
Cd36	T	A	5: 18,018,086 (GRCm39)	D209V	probably damaging	Het
Cers4	T	A	8: 4,569,475 (GRCm39)	W161R	probably damaging	Het
Ces2f	T	A	8: 105,680,178 (GRCm39)	H442Q	probably damaging	Het
Chchd6	A	C	6: 89,361,669 (GRCm39)	C245G	probably damaging	Het
Cndp1	T	G	18: 84,629,750 (GRCm39)	Q481P	probably benign	Het
Col3a1	A	G	1: 45,366,761 (GRCm39)	R234G	unknown	Het
Col3a1	A	T	1: 45,386,884 (GRCm39)	N232I	probably damaging	Het
Colgalt2	A	T	1: 152,378,768 (GRCm39)	D398V	probably damaging	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,495,941 (GRCm39)		probably null	Het
Dcdc2a	C	A	13: 25,240,290 (GRCm39)	Q13K	probably benign	Het
Dzip3	A	T	16: 48,781,571 (GRCm39)	I240N	probably damaging	Het
Epb41l3	T	A	17: 69,566,175 (GRCm39)	L452*	probably null	Het
Fam193b	C	T	13: 55,689,518 (GRCm39)	A753T	probably damaging	Het
Fam47e	G	C	5: 92,713,781 (GRCm39)		probably benign	Het
Fastkd1	A	G	2: 69,538,993 (GRCm39)		probably benign	Het
Fmnl1	G	A	11: 103,088,196 (GRCm39)	G69D	probably benign	Het
Foxn2	A	G	17: 88,781,094 (GRCm39)		probably benign	Het
Fsip2	A	G	2: 82,821,844 (GRCm39)	E5859G	possibly damaging	Het
Gm9894	T	A	13: 67,912,820 (GRCm39)		noncoding transcript	Het
H2-T13	T	C	17: 36,391,983 (GRCm39)	N44S	possibly damaging	Het
Helz2	T	C	2: 180,871,608 (GRCm39)	Y2668C	probably damaging	Het
Hhipl1	T	A	12: 108,277,952 (GRCm39)	C93*	probably null	Het
Lig1	C	T	7: 13,026,079 (GRCm39)	A278V	probably benign	Het
Lipn	T	A	19: 34,049,158 (GRCm39)	I108K	probably benign	Het
Lsamp	A	G	16: 41,971,592 (GRCm39)		probably benign	Het
Map3k14	A	G	11: 103,129,743 (GRCm39)		probably benign	Het
Mdm4	A	T	1: 132,919,558 (GRCm39)	C436S	probably damaging	Het
Mdm4	A	G	1: 132,940,430 (GRCm39)	L33P	probably damaging	Het
Meiob	T	C	17: 25,055,458 (GRCm39)	W422R	probably damaging	Het
Mppe1	T	C	18: 67,360,777 (GRCm39)	Y254C	probably damaging	Het
Mterf1a	A	T	5: 3,940,964 (GRCm39)	N301K	probably benign	Het
Muc6	C	T	7: 141,230,500 (GRCm39)	S1210N	probably damaging	Het
Mycbp2	A	T	14: 103,437,588 (GRCm39)	Y2091*	probably null	Het
Mylk	G	A	16: 34,694,409 (GRCm39)	R156H	probably benign	Het
Myo15a	G	T	11: 60,370,233 (GRCm39)	D998Y	probably benign	Het
Neb	A	T	2: 52,086,369 (GRCm39)	Y5235N	probably damaging	Het
Nop58	A	G	1: 59,743,370 (GRCm39)		probably benign	Het
Nr4a3	A	G	4: 48,051,564 (GRCm39)	H135R	probably damaging	Het
Nr4a3	A	G	4: 48,083,324 (GRCm39)	K619R	probably benign	Het
Nrg1	T	C	8: 32,327,695 (GRCm39)		probably benign	Het
Odr4	T	A	1: 150,262,142 (GRCm39)	E99D	probably benign	Het
Or4f59	A	T	2: 111,872,560 (GRCm39)	D272E	probably benign	Het
Or5b122	T	C	19: 13,563,577 (GRCm39)	V260A	probably benign	Het
Or5m8	A	T	2: 85,823,040 (GRCm39)	N293I	probably damaging	Het
Or8g24	T	A	9: 38,989,525 (GRCm39)	D172V	possibly damaging	Het
Parp3	T	C	9: 106,353,204 (GRCm39)		probably benign	Het
Pde2a	A	G	7: 101,133,750 (GRCm39)	E103G	probably benign	Het
Pds5a	A	T	5: 65,792,645 (GRCm39)		probably benign	Het
Pip4k2c	A	G	10: 127,047,262 (GRCm39)	V40A	unknown	Het
Pitrm1	T	C	13: 6,602,780 (GRCm39)		probably benign	Het
Plk4	A	G	3: 40,756,282 (GRCm39)	I64M	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Ppp2r1a	T	C	17: 21,171,593 (GRCm39)		probably benign	Het
Ppp4r3b	T	A	11: 29,159,426 (GRCm39)	N172K	probably damaging	Het
Prkcg	G	A	7: 3,368,177 (GRCm39)	R357Q	probably damaging	Het
Prmt3	T	C	7: 49,498,295 (GRCm39)		probably null	Het
Prx	T	A	7: 27,217,432 (GRCm39)	C644*	probably null	Het
Ptpru	A	G	4: 131,535,838 (GRCm39)		probably benign	Het
Rbm5	A	T	9: 107,619,696 (GRCm39)	D738E	probably damaging	Het
Recql5	A	T	11: 115,788,060 (GRCm39)	Y420N	probably damaging	Het
Rnf17	T	C	14: 56,663,088 (GRCm39)	I152T	probably benign	Het
Rnpepl1	A	G	1: 92,846,917 (GRCm39)	S580G	possibly damaging	Het
Ryr3	C	T	2: 112,777,332 (GRCm39)	G275D	probably damaging	Het
Serpinb9e	T	A	13: 33,441,735 (GRCm39)	Y222*	probably null	Het
Shld2	A	T	14: 33,990,448 (GRCm39)	S153T	possibly damaging	Het
Slc10a1	T	A	12: 81,002,802 (GRCm39)	I279F	probably damaging	Het
Slc12a8	G	T	16: 33,483,347 (GRCm39)	G584V	probably damaging	Het
Slc35b3	T	A	13: 39,121,307 (GRCm39)	Y311F	probably benign	Het
Slc44a5	A	G	3: 153,963,357 (GRCm39)		probably null	Het
Slc6a9	A	G	4: 117,722,003 (GRCm39)	E422G	possibly damaging	Het
Smpd2	A	G	10: 41,364,728 (GRCm39)		probably null	Het
Spast	A	G	17: 74,688,963 (GRCm39)		probably null	Het
Spink5	A	T	18: 44,116,630 (GRCm39)	E208V	probably benign	Het
Stag1	T	C	9: 100,770,506 (GRCm39)		probably benign	Het
Stambp	A	G	6: 83,540,803 (GRCm39)		probably null	Het
Sult3a2	A	T	10: 33,653,188 (GRCm39)	M184K	possibly damaging	Het
Tcp11	T	C	17: 28,290,636 (GRCm39)	D162G	probably damaging	Het
Themis	A	C	10: 28,544,744 (GRCm39)	E30A	possibly damaging	Het
Tmc7	G	A	7: 118,150,483 (GRCm39)	S350L	probably benign	Het
Tmem131	A	T	1: 36,873,979 (GRCm39)	Y271*	probably null	Het
Trim35	T	A	14: 66,546,248 (GRCm39)	S338R	probably benign	Het
Trim42	C	A	9: 97,245,673 (GRCm39)	V376F	probably benign	Het
Tshr	A	T	12: 91,504,871 (GRCm39)	K11M	probably damaging	Het
Vps8	A	G	16: 21,278,570 (GRCm39)		probably benign	Het
Wdr11	T	C	7: 129,208,831 (GRCm39)		probably benign	Het
Wdr26	A	T	1: 181,008,859 (GRCm39)		probably benign	Het
Zfp687	C	T	3: 94,915,784 (GRCm39)	C996Y	probably damaging	Het
Zfp984	A	T	4: 147,840,446 (GRCm39)	V135E	probably benign	Het
Zranb2	T	C	3: 157,247,502 (GRCm39)		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
R0448:Wdtc1	UTSW	4	133,024,811 (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
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

Posted On

2014-01-15