Mutagenetix > Incidental Mutation

Incidental Mutation 'R7128:Wt1'

552436

Institutional Source

Beutler Lab

Gene Symbol

Wt1

Ensembl Gene

ENSMUSG00000016458

Gene Name

WT1 transcription factor

Synonyms

D630046I19Rik, Wt-1, Wilms tumor 1 homolog

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104956874-105003959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104957670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 177 (Y177H)

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 damaging
Transcript: ENSMUST00000133470
AA Change: Y109H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120054
Gene: ENSMUSG00000016458
AA Change: Y109H

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

SMART Domains

Protein: ENSMUSP00000123592
Gene: ENSMUSG00000016458
AA Change: Y39H

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: Y177H

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000117891
Gene: ENSMUSG00000016458
AA Change: Y177H

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
AA Change: Y109H

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120702
Gene: ENSMUSG00000016458
AA Change: Y109H

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: Y177H

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,347,985 (GRCm39)	D25G	probably benign	Het
Ak9	T	C	10: 41,300,713 (GRCm39)	V1641A	unknown	Het
Akirin2	T	C	4: 34,562,435 (GRCm39)	I118T	probably benign	Het
Aldh1l1	G	T	6: 90,540,361 (GRCm39)	Q215H	probably benign	Het
Arhgef26	T	C	3: 62,326,971 (GRCm39)	F495L	possibly damaging	Het
Atg4a-ps	T	A	3: 103,553,063 (GRCm39)	R93*	probably null	Het
Brd10	T	C	19: 29,693,881 (GRCm39)	T1871A	possibly damaging	Het
Catsper3	A	G	13: 55,946,662 (GRCm39)	I120V	probably benign	Het
Cavin2	A	G	1: 51,328,579 (GRCm39)	Q12R	possibly damaging	Het
Cenpf	A	T	1: 189,417,188 (GRCm39)	F39Y	probably damaging	Het
Chfr	T	C	5: 110,291,502 (GRCm39)	Y107H	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Defb4	T	A	8: 19,251,220 (GRCm39)	I29K	possibly damaging	Het
Dnah7c	A	G	1: 46,566,645 (GRCm39)	T619A	probably benign	Het
Duxf1	T	C	10: 58,059,479 (GRCm39)	Q425R	unknown	Het
Emc3	A	G	6: 113,494,881 (GRCm39)	L179P	probably damaging	Het
Eno3	G	C	11: 70,549,430 (GRCm39)	V84L	possibly damaging	Het
Fam110a	C	T	2: 151,812,642 (GRCm39)	V43M	probably damaging	Het
Fbxo30	T	A	10: 11,165,860 (GRCm39)	L194*	probably null	Het
Galnt14	T	C	17: 73,852,096 (GRCm39)	T108A	probably benign	Het
Glipr2	T	C	4: 43,968,601 (GRCm39)	I51T	probably benign	Het
Gm1527	C	T	3: 28,969,460 (GRCm39)	S270F	possibly damaging	Het
Gm3336	A	G	8: 71,171,203 (GRCm39)	M1V	probably null	Het
Gm4744	T	C	6: 40,927,310 (GRCm39)	D15G		Het
Gm4924	G	A	10: 82,214,533 (GRCm39)	C777Y	unknown	Het
Gm5901	G	A	7: 105,027,408 (GRCm39)	G306S	probably damaging	Het
Gon4l	T	A	3: 88,802,999 (GRCm39)	N1203K	possibly damaging	Het
Gpr161	A	T	1: 165,138,026 (GRCm39)	Y204F	possibly damaging	Het
Igsf10	T	C	3: 59,236,326 (GRCm39)	E1285G	probably benign	Het
Irx6	T	C	8: 93,403,994 (GRCm39)	L187P	probably damaging	Het
Itgb1bp1	A	G	12: 21,322,089 (GRCm39)	Y117H	probably benign	Het
Itln1	C	A	1: 171,358,143 (GRCm39)	D202Y	possibly damaging	Het
Kctd9	T	C	14: 67,975,972 (GRCm39)	S242P	probably benign	Het
Lrrk2	A	G	15: 91,686,088 (GRCm39)	H2143R	probably benign	Het
Lynx1	G	A	15: 74,623,398 (GRCm39)	R50*	probably null	Het
Lypd11	C	T	7: 24,425,424 (GRCm39)		probably null	Het
Map10	A	G	8: 126,398,592 (GRCm39)	I662V	probably benign	Het
Mlxipl	T	C	5: 135,162,705 (GRCm39)	L691P	probably damaging	Het
Muc16	A	G	9: 18,554,300 (GRCm39)	S3998P	unknown	Het
Nalcn	A	T	14: 123,831,914 (GRCm39)	V120E	probably damaging	Het
Nfat5	T	C	8: 108,085,323 (GRCm39)	S539P	probably benign	Het
Olfml3	T	C	3: 103,644,484 (GRCm39)	M62V	probably benign	Het
Orm3	T	C	4: 63,276,062 (GRCm39)	V158A	probably benign	Het
Pakap	T	C	4: 57,855,816 (GRCm39)	S382P	probably benign	Het
Pced1b	A	T	15: 97,282,479 (GRCm39)	K173*	probably null	Het
Pdzd7	T	C	19: 45,016,388 (GRCm39)	D911G	probably damaging	Het
Pkn3	A	G	2: 29,973,327 (GRCm39)	D383G	probably damaging	Het
Pm20d1	A	G	1: 131,725,292 (GRCm39)	E46G	probably benign	Het
Pyroxd2	A	T	19: 42,719,842 (GRCm39)	S455T	probably benign	Het
Rmnd5b	T	A	11: 51,515,364 (GRCm39)	I301F	possibly damaging	Het
Rnf225	A	G	7: 12,661,911 (GRCm39)	N30S	probably benign	Het
Shisal2a	G	T	4: 108,225,100 (GRCm39)	T154K	probably benign	Het
Slfn3	T	A	11: 83,105,721 (GRCm39)	C573S	probably benign	Het
Smc6	A	G	12: 11,351,632 (GRCm39)	E887G	probably damaging	Het
Sp140	A	T	1: 85,547,846 (GRCm39)	D191V	possibly damaging	Het
Srf	C	T	17: 46,866,372 (GRCm39)	S128N	possibly damaging	Het
Sult6b1	T	C	17: 79,202,070 (GRCm39)	D144G	probably damaging	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Syt10	A	T	15: 89,698,314 (GRCm39)	D343E	probably damaging	Het
Tgtp2	G	A	11: 48,950,135 (GRCm39)	R146C	possibly damaging	Het
Tmcc3	A	T	10: 94,266,496 (GRCm39)		probably benign	Het
Tnfrsf1a	A	T	6: 125,338,499 (GRCm39)	T337S	probably benign	Het
Tns1	A	T	1: 74,034,463 (GRCm39)	I144N		Het
Trim11	A	G	11: 58,869,103 (GRCm39)	E13G	probably damaging	Het
Trpm6	A	T	19: 18,789,137 (GRCm39)	H569L	possibly damaging	Het
Ttbk2	T	A	2: 120,576,569 (GRCm39)	I803L	probably benign	Het
Vmn1r21	G	T	6: 57,820,936 (GRCm39)	N169K	probably damaging	Het
Vmn2r60	C	T	7: 41,844,536 (GRCm39)	T633I	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
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
R9032:Wt1	UTSW	2	104,957,160 (GRCm39)	missense	probably benign	0.18
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'- AAGTCCAGCGCCGAGAATC -3'
(R):5'- GCTGCTGAGTAAGAACTGGC -3'

Sequencing Primer
(F):5'- TCATGGGTTCCGACGTGC -3'
(R):5'- CTGCTGAGTAAGAACTGGCATCAG -3'

Posted On

2019-05-15