Mutagenetix > Incidental Mutation

Incidental Mutation 'R8944:Wt1'

681139

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

068783-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8944 (G1)

Quality Score

180.009

Status

Validated

Chromosome

Chromosomal Location

104956874-105003959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104957584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 10 (G10D)

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

possibly damaging
Transcript: ENSMUST00000133470
AA Change: G80D

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120054
Gene: ENSMUSG00000016458
AA Change: G80D

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

possibly damaging
Transcript: ENSMUST00000139585
AA Change: G10D

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123592
Gene: ENSMUSG00000016458
AA Change: G10D

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

possibly damaging
Transcript: ENSMUST00000143043
AA Change: G148D

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117891
Gene: ENSMUSG00000016458
AA Change: G148D

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

possibly damaging
Transcript: ENSMUST00000146842
AA Change: G80D

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120702
Gene: ENSMUSG00000016458
AA Change: G80D

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: G148D

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (88/88)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,049,851 (GRCm39)		probably benign	Het
A830018L16Rik	A	T	1: 11,484,706 (GRCm39)		probably benign	Het
Acox1	C	T	11: 116,066,040 (GRCm39)	R454H	probably damaging	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam18	A	G	8: 25,164,703 (GRCm39)	L4P	probably damaging	Het
AI182371	A	C	2: 34,990,622 (GRCm39)	L25R	probably damaging	Het
Ankrd12	A	C	17: 66,277,195 (GRCm39)	Y2026*	probably null	Het
Atad5	C	T	11: 79,986,524 (GRCm39)	T537M	possibly damaging	Het
Atosa	A	G	9: 74,911,562 (GRCm39)	Y11C	probably damaging	Het
Avil	G	T	10: 126,846,455 (GRCm39)	G420V	probably damaging	Het
Bche	A	T	3: 73,608,008 (GRCm39)	F473I	probably damaging	Het
Borcs5	T	C	6: 134,621,437 (GRCm39)		probably null	Het
C4b	T	C	17: 34,961,913 (GRCm39)	Q111R	probably benign	Het
Carmil2	T	A	8: 106,417,437 (GRCm39)	I565N	probably damaging	Het
Cd74	T	C	18: 60,943,127 (GRCm39)	M155T	probably damaging	Het
Chrnd	G	T	1: 87,119,997 (GRCm39)	R105L	probably damaging	Het
Clpp	G	T	17: 57,300,553 (GRCm39)	E217*	probably null	Het
Cpq	T	A	15: 33,594,269 (GRCm39)	Y427N	probably damaging	Het
Crxos	G	A	7: 15,636,900 (GRCm39)	E54K	possibly damaging	Het
Dcaf13	A	G	15: 39,001,612 (GRCm39)	R307G	possibly damaging	Het
Ddx55	A	G	5: 124,706,788 (GRCm39)	D595G	probably damaging	Het
Dld	T	A	12: 31,390,868 (GRCm39)	I193F	possibly damaging	Het
Dnah11	T	G	12: 118,091,381 (GRCm39)	E917A	possibly damaging	Het
Dnai2	T	A	11: 114,641,302 (GRCm39)	Y376N	possibly damaging	Het
Dock7	A	G	4: 98,829,243 (GRCm39)	Y2078H	probably damaging	Het
Dusp4	A	T	8: 35,274,941 (GRCm39)	N20I	probably benign	Het
Dzank1	A	G	2: 144,333,729 (GRCm39)	L367P	probably benign	Het
Eea1	T	A	10: 95,832,822 (GRCm39)	D222E	probably damaging	Het
Erich3	G	C	3: 154,462,692 (GRCm39)	R742S		Het
Erich6	C	T	3: 58,537,275 (GRCm39)	M246I	probably benign	Het
Galnt16	T	G	12: 80,623,314 (GRCm39)	I158S	probably damaging	Het
Gm28363	A	G	1: 117,655,080 (GRCm39)	T100A	possibly damaging	Het
Gm8257	A	T	14: 44,893,849 (GRCm39)	Y36N	probably damaging	Het
Gmpr2	T	C	14: 55,913,149 (GRCm39)	V142A	possibly damaging	Het
Grid2ip	T	C	5: 143,366,260 (GRCm39)		probably null	Het
Hamp2	A	G	7: 30,622,001 (GRCm39)	F63L	possibly damaging	Het
Hmga2	T	C	10: 120,309,159 (GRCm39)	K66E	probably damaging	Het
Hspa1a	T	C	17: 35,190,019 (GRCm39)	T295A	probably benign	Het
Ift74	G	A	4: 94,510,128 (GRCm39)	G53D	probably damaging	Het
Ighv6-7	T	C	12: 114,419,703 (GRCm39)	M1V	probably null	Het
Ints4	T	A	7: 97,183,593 (GRCm39)	D769E	probably benign	Het
Kif7	G	A	7: 79,360,005 (GRCm39)	R411C	probably damaging	Het
Klhl30	T	A	1: 91,287,174 (GRCm39)	Y487N	probably damaging	Het
Kras	T	C	6: 145,170,853 (GRCm39)	E174G	probably benign	Het
Krt84	T	C	15: 101,437,183 (GRCm39)	I327V	probably benign	Het
Lamb3	T	A	1: 193,014,525 (GRCm39)	C561*	probably null	Het
Lmbrd1	A	G	1: 24,767,407 (GRCm39)		probably benign	Het
Lmnb1	T	A	18: 56,876,331 (GRCm39)	S480T	probably benign	Het
Lrp2	C	T	2: 69,341,348 (GRCm39)	G944D	probably damaging	Het
Mta3	G	A	17: 84,083,146 (GRCm39)	E280K	probably damaging	Het
Muc5b	A	T	7: 141,421,115 (GRCm39)	I4236F		Het
Myh9	T	C	15: 77,655,432 (GRCm39)	T1175A	probably benign	Het
Myt1l	T	A	12: 29,861,564 (GRCm39)	D115E	unknown	Het
Naa25	A	G	5: 121,552,573 (GRCm39)	N167D	probably benign	Het
Ncam1	G	A	9: 49,431,493 (GRCm39)	P648L	probably damaging	Het
Or2t26	T	C	11: 49,039,266 (GRCm39)	Y61H	probably damaging	Het
Or2t44	A	T	11: 58,677,519 (GRCm39)	D153V	probably damaging	Het
P3h3	G	T	6: 124,832,196 (GRCm39)	A230E	possibly damaging	Het
Pacs2	A	G	12: 113,020,476 (GRCm39)	E253G	probably damaging	Het
Pbld1	A	T	10: 62,901,648 (GRCm39)	D57V	probably benign	Het
Pcsk5	T	C	19: 17,452,275 (GRCm39)	T1077A	probably damaging	Het
Pou4f2	T	A	8: 79,161,932 (GRCm39)	M224L		Het
Ppcdc	C	T	9: 57,342,265 (GRCm39)	R19H	probably benign	Het
Ppp1r10	T	A	17: 36,241,018 (GRCm39)	M640K	probably benign	Het
Prdx6	A	T	1: 161,069,432 (GRCm39)		probably benign	Het
Rab40b	A	G	11: 121,250,384 (GRCm39)		probably null	Het
Rassf9	T	A	10: 102,381,329 (GRCm39)	M237K	probably benign	Het
Rbbp8nl	G	T	2: 179,919,769 (GRCm39)	Y604*	probably null	Het
Reep2	G	T	18: 34,975,929 (GRCm39)	W42L	possibly damaging	Het
Serpinb6e	A	T	13: 34,017,261 (GRCm39)	M253K	probably damaging	Het
Shank2	A	G	7: 143,623,927 (GRCm39)	Q304R	probably damaging	Het
Slk	T	C	19: 47,600,057 (GRCm39)	M120T	probably damaging	Het
Spata31e5	T	C	1: 28,816,155 (GRCm39)	I626V	probably benign	Het
Sphkap	T	A	1: 83,256,927 (GRCm39)	H274L	probably benign	Het
Stc1	T	G	14: 69,269,884 (GRCm39)	F155V	possibly damaging	Het
Tbc1d12	A	G	19: 38,899,510 (GRCm39)	T477A	probably damaging	Het
Tmem19	T	A	10: 115,183,671 (GRCm39)	I54F	possibly damaging	Het
Tmem62	G	A	2: 120,817,316 (GRCm39)		probably null	Het
Ttc6	A	T	12: 57,689,826 (GRCm39)	R505S		Het
Ttn	G	T	2: 76,623,184 (GRCm39)	R15418S	probably damaging	Het
Ugt2a3	C	A	5: 87,473,417 (GRCm39)	C500F	possibly damaging	Het
Ugt2b35	T	C	5: 87,149,310 (GRCm39)	F187S	probably benign	Het
Ung	T	A	5: 114,269,456 (GRCm39)	I56N	probably damaging	Het
Vmn1r17	G	T	6: 57,338,142 (GRCm39)	F25L	probably benign	Het
Vmn1r29	C	A	6: 58,284,274 (GRCm39)		probably benign	Het
Vps26c	T	A	16: 94,302,481 (GRCm39)	I242F	probably benign	Het
Wdhd1	T	C	14: 47,504,470 (GRCm39)	D368G	probably benign	Het
Wdr3	A	T	3: 100,057,259 (GRCm39)	I448N	probably damaging	Het
Wdr47	T	A	3: 108,550,480 (GRCm39)	M835K	possibly damaging	Het
Zdhhc19	G	A	16: 32,316,500 (GRCm39)	G85D	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
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'- CAAGTCCAGCGCCGAGAATC -3'
(R):5'- ATCCTTACCTTGGTTGCGGATG -3'

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

Posted On

2021-08-31