Mutagenetix > Incidental Mutations

Incidental Mutation 'R8005:Wt1'

616552

Institutional Source

Beutler Lab

Gene Symbol

Wt1

Ensembl Gene

ENSMUSG00000016458

Gene Name

Wilms tumor 1 homolog

Synonyms

Wt-1, D630046I19Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8005 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105126529-105173616 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 105127444 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111098] [ENSMUST00000111099] [ENSMUST00000133470] [ENSMUST00000143043] [ENSMUST00000146842] [ENSMUST00000213301]

Predicted Effect

probably benign
Transcript: ENSMUST00000111098

SMART Domains

Protein: ENSMUSP00000106727
Gene: ENSMUSG00000016458

Domain	Start	End	E-Value	Type
Pfam:WT1	1	160	5e-93	PFAM
ZnF_C2H2	162	186	1.33e-1	SMART
ZnF_C2H2	192	216	2.12e-4	SMART
ZnF_C2H2	222	244	1.92e-2	SMART
ZnF_C2H2	253	277	1.89e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111099

SMART Domains

Protein: ENSMUSP00000106728
Gene: ENSMUSG00000016458

Domain	Start	End	E-Value	Type
Pfam:WT1	1	119	6.2e-63	PFAM
Pfam:WT1	113	177	4.6e-27	PFAM
ZnF_C2H2	179	203	1.33e-1	SMART
ZnF_C2H2	209	233	2.12e-4	SMART
ZnF_C2H2	239	261	1.92e-2	SMART
ZnF_C2H2	267	291	1.89e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133470

SMART Domains

Protein: ENSMUSP00000120054
Gene: ENSMUSG00000016458

Domain	Start	End	E-Value	Type
Pfam:WT1	1	304	3.2e-165	PFAM
ZnF_C2H2	306	330	1.33e-1	SMART
ZnF_C2H2	336	360	2.12e-4	SMART
ZnF_C2H2	366	388	1.92e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139585

SMART Domains

Protein: ENSMUSP00000123592
Gene: ENSMUSG00000016458

Domain	Start	End	E-Value	Type
Pfam:WT1	1	235	9.8e-135	PFAM
ZnF_C2H2	237	261	1.33e-1	SMART
ZnF_C2H2	267	291	2.12e-4	SMART
ZnF_C2H2	297	319	1.92e-2	SMART
ZnF_C2H2	325	349	1.89e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000143043

SMART Domains

Protein: ENSMUSP00000117891
Gene: ENSMUSG00000016458

Domain	Start	End	E-Value	Type
Pfam:WT1	69	389	1e-149	PFAM
ZnF_C2H2	391	415	1.33e-1	SMART
ZnF_C2H2	421	445	2.12e-4	SMART
ZnF_C2H2	451	473	1.92e-2	SMART
ZnF_C2H2	482	506	1.89e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146842

SMART Domains

Protein: ENSMUSP00000120702
Gene: ENSMUSG00000016458

Domain	Start	End	E-Value	Type
Pfam:WT1	1	225	5.1e-117	PFAM
Pfam:WT1	222	278	2.1e-26	PFAM
ZnF_C2H2	280	304	1.33e-1	SMART
ZnF_C2H2	310	334	2.12e-4	SMART
ZnF_C2H2	340	362	1.92e-2	SMART
ZnF_C2H2	371	395	1.89e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213301

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It plays an essential role in the normal development of the urogenital system, and the orthologous human gene is mutated in a small subset of patients with Wilm's tumors. Alternative splicing has been noted for this gene, however, the full-length nature of these variants is not known. The mRNA for this gene has been shown to initiate translation from non-AUG (CUG) and AUG translation start sites, resulting in different isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous mutants fail to develop normal kidneys or gonads, and on some genetic backgrounds, a spleen. Mutants have abnormalities of the heart, mesothelium and lungs and die between embryonic day 13.5 and birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	A	G	12: 84,017,000	D294G	probably benign	Het
Ak8	A	T	2: 28,712,302	S83C	probably benign	Het
Ankrd34b	C	A	13: 92,438,722	A154E	possibly damaging	Het
Anks1	A	G	17: 28,059,367	D1175G	probably damaging	Het
Ano4	T	A	10: 88,971,321	L799F	probably benign	Het
Aplp1	T	C	7: 30,436,045		probably null	Het
Apob	A	T	12: 8,009,744	H2742L	probably benign	Het
Apol7e	C	T	15: 77,718,077	Q292*	probably null	Het
Atp2b1	G	A	10: 98,994,799	G374D	probably damaging	Het
B020004J07Rik	A	G	4: 101,837,251	V145A	probably damaging	Het
B4galt5	A	G	2: 167,301,464	S347P	probably damaging	Het
Bcl11b	T	C	12: 107,916,197	T620A	probably benign	Het
Bco2	T	A	9: 50,538,913	D329V	probably damaging	Het
Cemip	C	A	7: 84,003,408		probably benign	Het
Copg2	T	A	6: 30,896,697	M1L	possibly damaging	Het
D430041D05Rik	G	A	2: 104,258,254	H164Y	possibly damaging	Het
Dscaml1	G	T	9: 45,717,510	G1121C	probably damaging	Het
Fam208b	C	T	13: 3,575,681	S1423N	probably benign	Het
Gas2l1	A	T	11: 5,061,552	S426T	probably benign	Het
Gm17783	T	C	16: 45,532,037		probably benign	Het
Gm9195	T	A	14: 72,426,400	I2740F	probably benign	Het
Irgm1	A	G	11: 48,866,390	I214T	probably damaging	Het
Kbtbd3	C	T	9: 4,330,655	T343I	probably damaging	Het
Ldlrad1	G	A	4: 107,209,491	A8T	probably benign	Het
Ly75	A	T	2: 60,332,934	Y804N	probably damaging	Het
Mgat2	A	G	12: 69,185,948	H432R	probably damaging	Het
Nsrp1	A	T	11: 77,045,786	M528K	probably damaging	Het
Nup54	T	C	5: 92,428,147	I162V	probably benign	Het
Obsl1	T	A	1: 75,505,452	N258I	probably damaging	Het
Olfr10	G	T	11: 49,318,141	M198I	probably benign	Het
Olfr350	A	G	2: 36,850,144	T33A	probably benign	Het
Olfr478	T	C	7: 108,032,263	R27G	possibly damaging	Het
Olfr498	T	C	7: 108,465,486	V54A	probably benign	Het
Pax2	G	A	19: 44,760,889	V20M	probably damaging	Het
Pigb	A	T	9: 73,015,264	M13K	unknown	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Pik3c2a	T	C	7: 116,418,036	Y162C	probably damaging	Het
Pik3c2g	A	T	6: 139,622,069	D61V	probably benign	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Prss46	A	G	9: 110,856,076	D256G	probably benign	Het
Rims1	G	T	1: 22,412,213	D196E		Het
Sbf1	A	G	15: 89,294,205	L1498P	probably damaging	Het
Sh2b1	T	C	7: 126,469,307	D444G	possibly damaging	Het
Slc7a15	T	G	12: 8,539,395	M51L	probably damaging	Het
Slitrk1	T	C	14: 108,913,265	I5V	probably benign	Het
Spg20	T	A	3: 55,117,352	C123S	probably benign	Het
Sry	C	T	Y: 2,663,303	R119K	possibly damaging	Het
Tbcc	T	C	17: 46,890,760	V24A	possibly damaging	Het
Tfap2a	T	A	13: 40,719,208	M331L	possibly damaging	Het
Thnsl1	A	G	2: 21,211,944	I170V	probably benign	Het
Ticrr	T	G	7: 79,694,048	S1220R	probably damaging	Het
Tmem262	T	C	19: 6,080,477	M77T	possibly damaging	Het
Tmem67	A	G	4: 12,047,821	S771P	probably damaging	Het
Tsc2	G	A	17: 24,599,596	A1423V	probably damaging	Het
Ubr4	T	A	4: 139,412,630	Y1175N	probably damaging	Het
Usp25	G	A	16: 77,077,068	A511T	probably benign	Het
Vmn2r115	T	A	17: 23,344,150	Y58*	probably null	Het
Zfp735	A	T	11: 73,712,314	K695*	probably null	Het
Zkscan14	A	G	5: 145,195,758	F321S	possibly damaging	Het
Zswim9	T	C	7: 13,261,138	E364G	probably damaging	Het

Other mutations in Wt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Wt1	APN	2	105144141	critical splice acceptor site	probably null
IGL00846:Wt1	APN	2	105166957	missense	probably damaging	1.00
IGL01411:Wt1	APN	2	105132974	missense	probably damaging	1.00
IGL02936:Wt1	APN	2	105169039	missense	probably damaging	1.00
IGL03063:Wt1	APN	2	105170023	splice site	probably null
R0127:Wt1	UTSW	2	105133457	missense	probably damaging	1.00
R1462:Wt1	UTSW	2	105166831	missense	probably damaging	1.00
R1462:Wt1	UTSW	2	105166831	missense	probably damaging	1.00
R2061:Wt1	UTSW	2	105131157	splice site	probably null
R2284:Wt1	UTSW	2	105172321	missense	probably benign	0.43
R2358:Wt1	UTSW	2	105163428	splice site	probably benign
R3711:Wt1	UTSW	2	105163428	splice site	probably benign
R5096:Wt1	UTSW	2	105143125	missense	probably damaging	1.00
R5590:Wt1	UTSW	2	105127284	missense	probably damaging	1.00
R5984:Wt1	UTSW	2	105172252	missense	probably benign	0.44
R6821:Wt1	UTSW	2	105172267	missense	probably damaging	1.00
R7128:Wt1	UTSW	2	105127325	missense	probably benign	0.04
R7698:Wt1	UTSW	2	105126816	missense	probably benign	0.33
R7913:Wt1	UTSW	2	105166860	missense	probably damaging	0.98
Z1176:Wt1	UTSW	2	105127107	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATCAAACAGGAGCCCAGCTG -3'
(R):5'- TGTCACTCGCATTTGACAGAGC -3'

Sequencing Primer
(F):5'- ACACGAGGAGCAGTGCCTG -3'
(R):5'- GCATTTGACAGAGCCCACTC -3'

Posted On

2020-01-23