Mutagenetix > Incidental Mutation

Incidental Mutation 'R2240:Wtap'

240350

Institutional Source

Beutler Lab

Gene Symbol

Wtap

Ensembl Gene

ENSMUSG00000060475

Gene Name

WT1 associating protein

Synonyms

2810408K05Rik, 9430038B09Rik

MMRRC Submission

040240-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2240 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13185686-13211430 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 13194352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 95 (Q95*)

Ref Sequence

ENSEMBL: ENSMUSP00000124138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007007] [ENSMUST00000159104] [ENSMUST00000159551] [ENSMUST00000159986] [ENSMUST00000160781]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000007007
AA Change: Q95*

SMART Domains

Protein: ENSMUSP00000007007
Gene: ENSMUSG00000060475
AA Change: Q95*

Domain	Start	End	E-Value	Type
low complexity region	57	69	N/A	INTRINSIC
coiled coil region	121	148	N/A	INTRINSIC
coiled coil region	177	248	N/A	INTRINSIC
low complexity region	278	291	N/A	INTRINSIC
low complexity region	305	327	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000159104
AA Change: Q72*

SMART Domains

Protein: ENSMUSP00000125337
Gene: ENSMUSG00000060475
AA Change: Q72*

Domain	Start	End	E-Value	Type
low complexity region	34	46	N/A	INTRINSIC
coiled coil region	98	125	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000159551
AA Change: Q95*

SMART Domains

Protein: ENSMUSP00000124205
Gene: ENSMUSG00000060475
AA Change: Q95*

Domain	Start	End	E-Value	Type
Pfam:Wtap	1	248	2.8e-157	PFAM
low complexity region	278	291	N/A	INTRINSIC
low complexity region	305	327	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000159986
AA Change: Q95*

SMART Domains

Protein: ENSMUSP00000123961
Gene: ENSMUSG00000060475
AA Change: Q95*

Domain	Start	End	E-Value	Type
low complexity region	57	69	N/A	INTRINSIC
coiled coil region	121	148	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000160781
AA Change: Q95*

SMART Domains

Protein: ENSMUSP00000124138
Gene: ENSMUSG00000060475
AA Change: Q95*

Domain	Start	End	E-Value	Type
low complexity region	57	69	N/A	INTRINSIC
coiled coil region	121	148	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Wilms tumor suppressor gene WT1 appears to play a role in both transcriptional and posttranscriptional regulation of certain cellular genes. This gene encodes a WT1-associating protein, which is a ubiquitously expressed nuclear protein. Like WT1 protein, this protein is localized throughout the nucleoplasm as well as in speckles and partially colocalizes with splicing factors. Alternative splicing of this gene results in several transcript variants encoding three different isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a mutation display lethality during embryogenesis with abnormalities appearing during gastrulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,595,417 (GRCm39)	I318N	probably damaging	Het
Abl1	A	G	2: 31,690,517 (GRCm39)	K679E	probably benign	Het
Actr8	A	G	14: 29,711,714 (GRCm39)	H420R	possibly damaging	Het
Arhgap29	T	A	3: 121,805,102 (GRCm39)	V897D	probably benign	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Bicc1	A	G	10: 70,782,633 (GRCm39)		probably null	Het
Brd4	T	C	17: 32,432,613 (GRCm39)		probably benign	Het
Camk2g	T	C	14: 20,815,514 (GRCm39)	E184G	probably damaging	Het
Camta1	T	C	4: 151,169,032 (GRCm39)	S240G	possibly damaging	Het
Cbx7	C	A	15: 79,802,558 (GRCm39)	A240S	probably damaging	Het
Ccdc181	A	T	1: 164,107,596 (GRCm39)	D93V	probably damaging	Het
Ces2g	A	C	8: 105,689,134 (GRCm39)	S37R	probably benign	Het
Clca3a1	T	A	3: 144,714,746 (GRCm39)	R624W	probably damaging	Het
Clca3b	T	C	3: 144,531,696 (GRCm39)	K703E	probably benign	Het
Clec2h	T	C	6: 128,652,845 (GRCm39)	V204A	probably benign	Het
Cltb	T	C	13: 54,746,967 (GRCm39)	N3S	possibly damaging	Het
Col9a1	A	G	1: 24,218,582 (GRCm39)	I65V	unknown	Het
D430041D05Rik	C	T	2: 103,987,161 (GRCm39)	R1895Q	probably damaging	Het
Dnah1	T	C	14: 31,021,931 (GRCm39)	S1191G	probably benign	Het
Ehf	G	A	2: 103,104,420 (GRCm39)	P163S	probably benign	Het
Fam170b	A	C	14: 32,557,825 (GRCm39)	H220P	probably damaging	Het
Fastkd1	G	A	2: 69,527,297 (GRCm39)	T598I	probably benign	Het
Fignl2	C	T	15: 100,951,916 (GRCm39)	G122D	probably damaging	Het
Foxp4	C	A	17: 48,182,201 (GRCm39)	V530L	unknown	Het
Gcnt1	G	T	19: 17,306,695 (GRCm39)	D343E	possibly damaging	Het
Gja8	T	G	3: 96,827,618 (GRCm39)	N15H	probably benign	Het
Gm128	T	C	3: 95,148,243 (GRCm39)	E17G	probably benign	Het
Gnl1	T	C	17: 36,293,571 (GRCm39)	V252A	probably benign	Het
Gpld1	G	A	13: 25,166,490 (GRCm39)		probably null	Het
Gpr179	A	G	11: 97,242,559 (GRCm39)	L95P	probably damaging	Het
Gtf2a1	A	T	12: 91,553,513 (GRCm39)	D31E	possibly damaging	Het
Il12a	T	A	3: 68,601,517 (GRCm39)	Y58*	probably null	Het
Il1r2	T	C	1: 40,144,630 (GRCm39)	W106R	probably damaging	Het
Kif26b	A	G	1: 178,543,488 (GRCm39)	S374G	probably benign	Het
Mafb	A	T	2: 160,207,947 (GRCm39)	V217E	probably damaging	Het
Mapk13	T	A	17: 28,997,085 (GRCm39)	D292E	probably damaging	Het
Matn2	A	G	15: 34,433,209 (GRCm39)	D871G	probably damaging	Het
Mdn1	C	A	4: 32,765,701 (GRCm39)	T5220K	possibly damaging	Het
Mfsd6	T	C	1: 52,699,978 (GRCm39)	I723M	probably damaging	Het
Mia2	G	A	12: 59,154,668 (GRCm39)	S127N	probably benign	Het
Mpeg1	A	C	19: 12,440,402 (GRCm39)	E620A	probably damaging	Het
Mrgprb3	A	T	7: 48,293,389 (GRCm39)	F54Y	probably damaging	Het
Mtx2	A	G	2: 74,699,696 (GRCm39)	I156V	probably benign	Het
Neurog1	T	C	13: 56,399,348 (GRCm39)	E133G	probably damaging	Het
Nid2	G	A	14: 19,855,982 (GRCm39)	D1236N	probably damaging	Het
Nif3l1	A	G	1: 58,491,288 (GRCm39)	T213A	probably benign	Het
Or7e173	A	G	9: 19,938,440 (GRCm39)	S265P	probably damaging	Het
Otog	A	G	7: 45,890,453 (GRCm39)	M1V	probably null	Het
Pde4dip	C	T	3: 97,631,480 (GRCm39)	R1143K	probably benign	Het
Pgam2	T	C	11: 5,753,265 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,090,250 (GRCm39)	D30G	probably damaging	Het
Pramel5	C	A	4: 143,999,506 (GRCm39)	E194*	probably null	Het
Prss22	T	A	17: 24,215,755 (GRCm39)	S56C	probably damaging	Het
Rab23	A	G	1: 33,778,406 (GRCm39)	N216S	probably benign	Het
Rasgrf1	A	T	9: 89,858,815 (GRCm39)	E491V	probably damaging	Het
Rbbp8	C	T	18: 11,810,726 (GRCm39)	T76I	probably damaging	Het
Rtn2	G	A	7: 19,020,754 (GRCm39)		probably null	Het
Sdr39u1	A	T	14: 56,137,124 (GRCm39)	N62K	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc26a3	T	C	12: 31,507,071 (GRCm39)	V342A	probably damaging	Het
Slc49a3	A	G	5: 108,592,573 (GRCm39)	S234P	probably benign	Het
Snx30	G	T	4: 59,886,515 (GRCm39)	C308F	probably damaging	Het
Timd2	A	T	11: 46,569,043 (GRCm39)	V205E	probably benign	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tnfaip6	G	A	2: 51,940,926 (GRCm39)	D156N	probably benign	Het
Uggt2	T	A	14: 119,232,461 (GRCm39)	E1463D	probably damaging	Het
Urb2	C	A	8: 124,756,878 (GRCm39)	P862T	probably benign	Het
Vmn1r64	A	T	7: 5,887,369 (GRCm39)	L58*	probably null	Het
Vmn2r3	C	A	3: 64,166,483 (GRCm39)	G883C	probably benign	Het
Vps13d	A	T	4: 144,837,465 (GRCm39)	C2707S	possibly damaging	Het
Wdr11	G	T	7: 129,207,418 (GRCm39)		probably null	Het
Wdr37	T	A	13: 8,911,268 (GRCm39)		probably benign	Het
Zfp26	A	T	9: 20,348,563 (GRCm39)	L667H	probably damaging	Het
Zfp268	C	T	4: 145,311,891 (GRCm39)		probably benign	Het

Other mutations in Wtap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Wtap	APN	17	13,186,782 (GRCm39)	missense	probably benign	0.08
IGL01867:Wtap	APN	17	13,188,342 (GRCm39)	missense	probably benign	0.00
IGL02379:Wtap	APN	17	13,188,336 (GRCm39)	missense	probably benign
IGL02437:Wtap	APN	17	13,186,620 (GRCm39)	missense	probably benign
IGL02975:Wtap	APN	17	13,202,398 (GRCm39)	missense	possibly damaging	0.85
ANU22:Wtap	UTSW	17	13,186,782 (GRCm39)	missense	probably benign	0.08
R1457:Wtap	UTSW	17	13,200,631 (GRCm39)	splice site	probably null
R1799:Wtap	UTSW	17	13,199,771 (GRCm39)	missense	possibly damaging	0.96
R2328:Wtap	UTSW	17	13,186,425 (GRCm39)	missense	possibly damaging	0.53
R2332:Wtap	UTSW	17	13,186,425 (GRCm39)	missense	possibly damaging	0.53
R3426:Wtap	UTSW	17	13,186,425 (GRCm39)	missense	possibly damaging	0.53
R4382:Wtap	UTSW	17	13,194,307 (GRCm39)	missense	probably damaging	0.99
R4703:Wtap	UTSW	17	13,199,711 (GRCm39)	missense	probably benign	0.23
R4879:Wtap	UTSW	17	13,188,322 (GRCm39)	missense	probably damaging	0.99
R4956:Wtap	UTSW	17	13,186,423 (GRCm39)	missense	probably benign	0.06
R5044:Wtap	UTSW	17	13,186,525 (GRCm39)	missense	possibly damaging	0.47
R6366:Wtap	UTSW	17	13,186,945 (GRCm39)	splice site	probably null
R6813:Wtap	UTSW	17	13,186,397 (GRCm39)	missense	probably damaging	0.96
R7324:Wtap	UTSW	17	13,199,833 (GRCm39)	missense	possibly damaging	0.91
R7443:Wtap	UTSW	17	13,199,821 (GRCm39)	missense	probably benign	0.05
R7810:Wtap	UTSW	17	13,199,797 (GRCm39)	missense	probably damaging	0.99
R7939:Wtap	UTSW	17	13,200,683 (GRCm39)	nonsense	probably null
R8787:Wtap	UTSW	17	13,186,488 (GRCm39)	missense	possibly damaging	0.93
T0970:Wtap	UTSW	17	13,188,277 (GRCm39)	unclassified	probably benign
X0067:Wtap	UTSW	17	13,204,816 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGGGAAGTCTTGACTGGG -3'
(R):5'- TGTGAGATTTGACTCAAGGGTC -3'

Sequencing Primer
(F):5'- AGTATGATTTGTTTACCTATCAGGCG -3'
(R):5'- AGATTTGACTCAAGGGTCTTGTTC -3'

Posted On

2014-10-15