Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02724:Wdtc1'

305086

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdtc1

Ensembl Gene

ENSMUSG00000037622

Gene Name

WD and tetratricopeptide repeats 1

Synonyms

adp, adipose, LOC230796

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02724

Quality Score

Status

Chromosome

Chromosomal Location

133019770-133080792 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133024789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 469 (S469R)

Ref Sequence

ENSEMBL: ENSMUSP00000101526 (fasta)

Gene Model

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

AlphaFold

Q80ZK9

Predicted Effect

probably benign
Transcript: ENSMUST00000043305
AA Change: S469R

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000040647
Gene: ENSMUSG00000037622
AA Change: S469R

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

possibly damaging
Transcript: ENSMUST00000105906
AA Change: S469R

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101526
Gene: ENSMUSG00000037622
AA Change: S469R

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

Coding Region Coverage

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	G	2: 93,676,121 (GRCm39)	K85Q	probably damaging	Het
Acmsd	A	T	1: 127,676,822 (GRCm39)	T116S	possibly damaging	Het
Agrn	T	A	4: 156,257,264 (GRCm39)	K1189*	probably null	Het
Alk	T	C	17: 72,292,455 (GRCm39)	R508G	probably benign	Het
Arhgap23	T	A	11: 97,382,005 (GRCm39)	Y1123N	probably damaging	Het
Arl6ip5	G	T	6: 97,209,365 (GRCm39)	M133I	probably benign	Het
Axin2	G	A	11: 108,833,772 (GRCm39)	G573D	possibly damaging	Het
B4galt2	A	G	4: 117,734,075 (GRCm39)		probably null	Het
Baz2b	G	T	2: 59,807,718 (GRCm39)	D180E	possibly damaging	Het
Btnl6	G	T	17: 34,727,149 (GRCm39)	Y460*	probably null	Het
Cct7	A	T	6: 85,436,131 (GRCm39)	D14V	probably damaging	Het
Cd55	T	A	1: 130,377,149 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh2	C	T	18: 16,762,537 (GRCm39)	R526Q	probably benign	Het
Chi3l1	A	C	1: 134,116,981 (GRCm39)	E315A	probably damaging	Het
Cmya5	A	G	13: 93,233,163 (GRCm39)	S642P	probably benign	Het
Cpm	C	A	10: 117,465,756 (GRCm39)	T43K	probably damaging	Het
Cracd	T	C	5: 77,006,306 (GRCm39)	V889A	unknown	Het
Cyp8b1	A	T	9: 121,744,453 (GRCm39)	V293D	probably benign	Het
Dock1	T	G	7: 134,765,082 (GRCm39)	D1691E	probably benign	Het
Fasn	T	C	11: 120,700,659 (GRCm39)	D2120G	probably benign	Het
Gal3st4	T	C	5: 138,263,679 (GRCm39)	K440R	probably benign	Het
Gfpt1	A	T	6: 87,033,164 (GRCm39)	K130*	probably null	Het
Gpr26	T	C	7: 131,576,121 (GRCm39)		probably null	Het
Htr2a	A	T	14: 74,882,502 (GRCm39)	I163F	probably damaging	Het
Ift70a2	T	C	2: 75,806,682 (GRCm39)	E610G	probably benign	Het
Insrr	A	G	3: 87,716,879 (GRCm39)	D673G	probably benign	Het
Ipo8	G	T	6: 148,692,979 (GRCm39)	C636*	probably null	Het
Kirrel1	C	A	3: 86,997,780 (GRCm39)	E248*	probably null	Het
Lrp6	A	G	6: 134,461,228 (GRCm39)	V743A	probably damaging	Het
Lrrc45	C	A	11: 120,609,144 (GRCm39)	S374R	probably benign	Het
Map3k9	G	A	12: 81,771,516 (GRCm39)	P714S	probably benign	Het
Mrgprb8	T	A	7: 48,039,121 (GRCm39)	L264Q	possibly damaging	Het
Mroh4	C	A	15: 74,478,000 (GRCm39)	W902L	probably benign	Het
Nfat5	T	A	8: 108,085,367 (GRCm39)	D535E	probably damaging	Het
Nfatc3	T	C	8: 106,834,817 (GRCm39)	V713A	probably benign	Het
Npc1l1	C	T	11: 6,164,684 (GRCm39)	V1122M	possibly damaging	Het
Nsg2	A	G	11: 32,005,011 (GRCm39)		probably null	Het
Or4c15	C	A	2: 88,759,792 (GRCm39)	R289L	probably damaging	Het
Or8s10	T	A	15: 98,335,660 (GRCm39)	F103L	probably benign	Het
Pax9	A	T	12: 56,756,604 (GRCm39)	H314L	possibly damaging	Het
Phf21a	A	T	2: 92,190,592 (GRCm39)	I584F	probably damaging	Het
Pip5k1c	A	G	10: 81,149,296 (GRCm39)	E536G	probably benign	Het
Plekhm3	A	G	1: 64,834,276 (GRCm39)	S736P	probably damaging	Het
Ppp3cb	T	A	14: 20,573,645 (GRCm39)		probably null	Het
Prdm9	A	T	17: 15,783,522 (GRCm39)	S14R	probably benign	Het
Proc	A	G	18: 32,267,925 (GRCm39)	I71T	probably damaging	Het
Prom2	T	A	2: 127,380,577 (GRCm39)		probably benign	Het
Psd	T	C	19: 46,307,984 (GRCm39)	T675A	probably benign	Het
Rnf215	G	T	11: 4,090,305 (GRCm39)	R341L	probably damaging	Het
Ryr3	A	G	2: 112,732,921 (GRCm39)		probably null	Het
Sh2d7	C	A	9: 54,448,105 (GRCm39)	T42N	probably benign	Het
Sh3glb2	C	T	2: 30,236,368 (GRCm39)	G279D	probably benign	Het
Slc25a46	A	G	18: 31,738,868 (GRCm39)		probably benign	Het
Snx17	T	C	5: 31,354,390 (GRCm39)	S167P	probably damaging	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Sptbn4	G	A	7: 27,067,104 (GRCm39)	R1937C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Srsf11	T	C	3: 157,722,068 (GRCm39)		probably benign	Het
Taar7b	A	T	10: 23,876,581 (GRCm39)	M249L	probably benign	Het
Tle6	G	A	10: 81,435,898 (GRCm39)	Q6*	probably null	Het
Twnk	G	T	19: 44,996,557 (GRCm39)	R330L	probably damaging	Het
Unc13a	C	A	8: 72,108,949 (GRCm39)		probably benign	Het
Vmn2r107	A	G	17: 20,577,006 (GRCm39)	T335A	possibly damaging	Het
Ypel1	A	G	16: 16,921,466 (GRCm39)	Y73H	probably benign	Het
Zfp382	A	T	7: 29,833,162 (GRCm39)	Y271F	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
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
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

Posted On

2015-04-16