Mutagenetix > Incidental Mutation

Incidental Mutation 'R9032:Wt1'

687112

Institutional Source

Beutler Lab

Gene Symbol

Wt1

Ensembl Gene

ENSMUSG00000016458

Gene Name

WT1 transcription factor

Synonyms

D630046I19Rik, Wt-1, Wilms tumor 1 homolog

MMRRC Submission

068861-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9032 (G1)

Quality Score

183.009

Status

Validated

Chromosome

Chromosomal Location

104956874-105003959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104957160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 7 (Q7K)

Ref Sequence

ENSEMBL: ENSMUSP00000117891 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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 benign
Transcript: ENSMUST00000143043
AA Change: Q7K

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000117891
Gene: ENSMUSG00000016458
AA Change: Q7K

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
AA Change: Q7K

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0752

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (56/56)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	T	15: 84,844,782 (GRCm39)	M78I	probably benign	Het
Abca8b	C	T	11: 109,848,073 (GRCm39)	V803M	probably benign	Het
Acap1	T	C	11: 69,772,491 (GRCm39)	E728G	probably damaging	Het
Afg1l	G	A	10: 42,194,637 (GRCm39)	T385M	probably damaging	Het
Ankib1	T	C	5: 3,819,641 (GRCm39)	I93V	probably benign	Het
Aopep	C	T	13: 63,444,681 (GRCm39)	R752*	probably null	Het
Apoa4	T	A	9: 46,154,275 (GRCm39)	L292Q	probably damaging	Het
Arhgap29	T	A	3: 121,808,249 (GRCm39)	D1142E	probably benign	Het
Asb5	A	T	8: 55,038,929 (GRCm39)	D265V	probably benign	Het
Ash1l	C	T	3: 88,889,294 (GRCm39)	A391V	probably benign	Het
Ash1l	T	C	3: 88,891,529 (GRCm39)	V1136A	probably benign	Het
Cacna1c	G	T	6: 118,615,466 (GRCm39)	Y1308*	probably null	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,604,874 (GRCm39)		probably benign	Het
Dmtn	A	G	14: 70,853,534 (GRCm39)	S92P	probably damaging	Het
Edc4	T	C	8: 106,613,639 (GRCm39)	F353S	probably damaging	Het
Emc1	T	C	4: 139,094,474 (GRCm39)	Y676H	possibly damaging	Het
Epb41l4b	A	T	4: 57,041,064 (GRCm39)		probably null	Het
Fat1	A	T	8: 45,492,894 (GRCm39)	N3872I	probably benign	Het
Fer	T	A	17: 64,228,767 (GRCm39)	M214K	probably damaging	Het
Fgf17	A	G	14: 70,874,436 (GRCm39)	F129L	probably damaging	Het
Fnbp1	T	C	2: 30,973,017 (GRCm39)	D161G	probably damaging	Het
Frmd4b	A	C	6: 97,269,334 (GRCm39)	S993A	probably benign	Het
Hsh2d	T	C	8: 72,954,385 (GRCm39)	S256P	probably benign	Het
Il31ra	T	C	13: 112,660,628 (GRCm39)	S654G		Het
Lmnb2	T	C	10: 80,740,091 (GRCm39)	D442G	probably benign	Het
Med19	A	G	2: 84,515,660 (GRCm39)	M115V	probably damaging	Het
Mroh5	T	C	15: 73,655,302 (GRCm39)	Y641C	probably benign	Het
Mrpl18	A	T	17: 13,134,582 (GRCm39)	V61E	probably damaging	Het
Mrtfb	A	C	16: 13,230,092 (GRCm39)	T926P	probably damaging	Het
Mtap	AC	A	4: 89,090,515 (GRCm39)		probably null	Het
Muc2	T	A	7: 141,287,058 (GRCm39)	C154S	probably damaging	Het
Mypn	T	G	10: 62,983,894 (GRCm39)		probably null	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nes	T	G	3: 87,887,069 (GRCm39)	V1776G	possibly damaging	Het
Nxn	A	G	11: 76,169,383 (GRCm39)	I132T	probably damaging	Het
Oxr1	G	A	15: 41,718,317 (GRCm39)	V798I	probably benign	Het
Papss1	C	A	3: 131,324,817 (GRCm39)	H425N	probably damaging	Het
Pde4dip	T	C	3: 97,601,385 (GRCm39)	N2344S	probably benign	Het
Pfas	C	T	11: 68,879,421 (GRCm39)	G263S		Het
Pknox1	C	T	17: 31,822,229 (GRCm39)	T332M	possibly damaging	Het
Plch2	T	C	4: 155,084,976 (GRCm39)	D321G	probably damaging	Het
Pnma1	T	C	12: 84,193,806 (GRCm39)	N299S	probably benign	Het
Psg23	T	G	7: 18,348,660 (GRCm39)	N49T	possibly damaging	Het
Qrfpr	A	G	3: 36,276,099 (GRCm39)	F97S	probably damaging	Het
Rbl1	A	G	2: 157,035,073 (GRCm39)	F336L	probably benign	Het
Rpap1	G	A	2: 119,608,776 (GRCm39)	P143S	probably benign	Het
Rsph6a	A	T	7: 18,799,250 (GRCm39)	N294Y	probably damaging	Het
Serpinb9h	T	C	13: 33,581,781 (GRCm39)	Y113H	probably damaging	Het
Sesn1	C	T	10: 41,686,835 (GRCm39)		probably benign	Het
Sh3d19	T	C	3: 86,033,992 (GRCm39)	Y782H	probably damaging	Het
Siglecg	T	C	7: 43,061,049 (GRCm39)	V374A	probably benign	Het
Slc35d2	A	G	13: 64,256,227 (GRCm39)	F156S	probably damaging	Het
Slc6a11	A	T	6: 114,202,808 (GRCm39)	I301F	probably damaging	Het
Slx4ip	A	G	2: 136,910,240 (GRCm39)	K412E	possibly damaging	Het
Tas2r115	A	T	6: 132,714,327 (GRCm39)	V208E	probably benign	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Tmem132a	G	T	19: 10,843,835 (GRCm39)	Q174K	probably damaging	Het
Tmtc1	A	T	6: 148,237,749 (GRCm39)	Y338*	probably null	Het
Vav3	C	T	3: 109,413,722 (GRCm39)	A220V	probably benign	Het
Zbtb4	T	A	11: 69,672,650 (GRCm39)	F204L	probably benign	Het
Zfp51	T	A	17: 21,684,660 (GRCm39)	L425H	probably damaging	Het

Other mutations in Wt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Wt1	APN	2	104,974,486 (GRCm39)	critical splice acceptor site	probably null
IGL00846:Wt1	APN	2	104,997,302 (GRCm39)	missense	probably damaging	1.00
IGL01411:Wt1	APN	2	104,963,319 (GRCm39)	missense	probably damaging	1.00
IGL02936:Wt1	APN	2	104,999,384 (GRCm39)	missense	probably damaging	1.00
IGL03063:Wt1	APN	2	105,000,368 (GRCm39)	splice site	probably null
R0127:Wt1	UTSW	2	104,963,802 (GRCm39)	missense	probably damaging	1.00
R1462:Wt1	UTSW	2	104,997,176 (GRCm39)	missense	probably damaging	1.00
R1462:Wt1	UTSW	2	104,997,176 (GRCm39)	missense	probably damaging	1.00
R2061:Wt1	UTSW	2	104,961,502 (GRCm39)	splice site	probably null
R2284:Wt1	UTSW	2	105,002,666 (GRCm39)	missense	probably benign	0.43
R2358:Wt1	UTSW	2	104,993,773 (GRCm39)	splice site	probably benign
R3711:Wt1	UTSW	2	104,993,773 (GRCm39)	splice site	probably benign
R5096:Wt1	UTSW	2	104,973,470 (GRCm39)	missense	probably damaging	1.00
R5590:Wt1	UTSW	2	104,957,629 (GRCm39)	missense	probably damaging	1.00
R5984:Wt1	UTSW	2	105,002,597 (GRCm39)	missense	probably benign	0.44
R6821:Wt1	UTSW	2	105,002,612 (GRCm39)	missense	probably damaging	1.00
R7128:Wt1	UTSW	2	104,957,670 (GRCm39)	missense	probably benign	0.04
R7698:Wt1	UTSW	2	104,957,161 (GRCm39)	missense	probably benign	0.33
R7913:Wt1	UTSW	2	104,997,205 (GRCm39)	missense	probably damaging	0.98
R8005:Wt1	UTSW	2	104,957,789 (GRCm39)	critical splice donor site	probably null
R8944:Wt1	UTSW	2	104,957,584 (GRCm39)	missense	possibly damaging	0.92
R9569:Wt1	UTSW	2	104,993,711 (GRCm39)	missense	possibly damaging	0.93
Z1176:Wt1	UTSW	2	104,957,452 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TAAGGAGTTCAAGGCAGCGC -3'
(R):5'- TGAACTGGCCCGAGAAGTG -3'

Sequencing Primer
(F):5'- cactcattcacccaccc -3'
(R):5'- TGCAAGGTGAAGGCGCTC -3'

Posted On

2021-11-19