Mutagenetix > Incidental Mutations

Incidental Mutation 'R2332:Wtap'

246488

Institutional Source

Beutler Lab

Gene Symbol

Wtap

Ensembl Gene

ENSMUSG00000060475

Gene Name

Wilms tumour 1-associating protein

Synonyms

9430038B09Rik, 2810408K05Rik

MMRRC Submission

040322-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2332 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12966796-12992546 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12967538 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 374 (R374Q)

Ref Sequence

ENSEMBL: ENSMUSP00000124205 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007007
AA Change: R374Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000007007
Gene: ENSMUSG00000060475
AA Change: R374Q

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

possibly damaging
Transcript: ENSMUST00000159551
AA Change: R374Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124205
Gene: ENSMUSG00000060475
AA Change: R374Q

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

noncoding transcript
Transcript: ENSMUST00000160654

Meta Mutation Damage Score

0.0863

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (47/48)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc	T	C	18: 34,317,059	I2302T	possibly damaging	Het
Apoa4	G	A	9: 46,242,355	V85I	probably benign	Het
Banf1	C	T	19: 5,365,030	W84*	probably null	Het
Cdk13	A	G	13: 17,718,695	L627P	probably damaging	Het
Cep250	A	G	2: 155,990,607	E1483G	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ddx60	A	G	8: 62,037,091	E1698G	probably benign	Het
Depdc1a	C	A	3: 159,523,866	Q612K	probably damaging	Het
Dnaja2	G	A	8: 85,540,136	R321C	probably damaging	Het
Fam186b	T	A	15: 99,280,428	E339V	probably benign	Het
Fga	T	C	3: 83,031,397	F360L	probably damaging	Het
Fut9	C	T	4: 25,619,823	W330*	probably null	Het
Ghr	T	C	15: 3,320,409	N429S	probably benign	Het
Gm5444	A	T	13: 4,833,625		noncoding transcript	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Hoxa5	T	C	6: 52,202,679	I239V	probably damaging	Het
Hps6	T	C	19: 46,004,491	V289A	possibly damaging	Het
Iqcb1	A	G	16: 36,843,439	N190D	possibly damaging	Het
Map3k13	G	A	16: 21,898,677		probably null	Het
Olfr1115	T	C	2: 87,252,873	V312A	possibly damaging	Het
Olfr607	A	G	7: 103,461,086	Y41H	probably damaging	Het
Pacsin1	A	G	17: 27,704,911	E93G	possibly damaging	Het
Pds5a	A	G	5: 65,627,079		probably null	Het
Ppp1r9b	A	T	11: 94,996,609	E482D	probably damaging	Het
Rhobtb3	A	G	13: 75,910,852	S276P	probably benign	Het
Rimbp2	A	G	5: 128,789,641	V538A	probably benign	Het
Rmdn3	A	T	2: 119,153,527		probably benign	Het
Setx	GTGGCT	GT	2: 29,154,061		probably null	Het
Sh3rf1	C	T	8: 61,226,287	P121L	probably benign	Het
Slc4a11	A	T	2: 130,684,459	V855D	probably benign	Het
Speer4f1	C	A	5: 17,479,524	N183K	probably damaging	Het
Sstr4	A	T	2: 148,396,410	N314Y	probably damaging	Het
Synj2	A	G	17: 6,023,794	K288E	probably damaging	Het
Trhde	T	A	10: 114,592,165	N409Y	probably damaging	Het
Ttn	A	T	2: 76,781,139	W15604R	probably damaging	Het
Ugdh	C	T	5: 65,427,484	V32I	possibly damaging	Het
Uhrf1	C	A	17: 56,310,671		probably null	Het
Vps13d	G	T	4: 145,148,686	D1750E	probably benign	Het
Wdfy3	A	G	5: 101,888,323		probably benign	Het
Wnt4	C	A	4: 137,296,520	T266K	probably benign	Het
Zfp322a	A	T	13: 23,357,324	C83S	probably damaging	Het

Other mutations in Wtap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Wtap	APN	17	12967895	missense	probably benign	0.08
IGL01867:Wtap	APN	17	12969455	missense	probably benign	0.00
IGL02379:Wtap	APN	17	12969449	missense	probably benign
IGL02437:Wtap	APN	17	12967733	missense	probably benign
IGL02975:Wtap	APN	17	12983511	missense	possibly damaging	0.85
ANU22:Wtap	UTSW	17	12967895	missense	probably benign	0.08
R1457:Wtap	UTSW	17	12981744	splice site	probably null
R1799:Wtap	UTSW	17	12980884	missense	possibly damaging	0.96
R2240:Wtap	UTSW	17	12975465	nonsense	probably null
R2328:Wtap	UTSW	17	12967538	missense	possibly damaging	0.53
R3426:Wtap	UTSW	17	12967538	missense	possibly damaging	0.53
R4382:Wtap	UTSW	17	12975420	missense	probably damaging	0.99
R4703:Wtap	UTSW	17	12980824	missense	probably benign	0.23
R4879:Wtap	UTSW	17	12969435	missense	probably damaging	0.99
R4956:Wtap	UTSW	17	12967536	missense	probably benign	0.06
R5044:Wtap	UTSW	17	12967638	missense	possibly damaging	0.47
R6366:Wtap	UTSW	17	12968058	splice site	probably null
R6813:Wtap	UTSW	17	12967510	missense	probably damaging	0.96
R7324:Wtap	UTSW	17	12980946	missense	possibly damaging	0.91
R7443:Wtap	UTSW	17	12980934	missense	probably benign	0.05
R7810:Wtap	UTSW	17	12980910	missense	probably damaging	0.99
R7939:Wtap	UTSW	17	12981796	nonsense	probably null
T0970:Wtap	UTSW	17	12969390	unclassified	probably benign
X0067:Wtap	UTSW	17	12985929	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAAAGTGGCAGAGGTATTGAAGC -3'
(R):5'- TAAGGCCTCCAACAGCTCAG -3'

Sequencing Primer
(F):5'- AGGAACCAAACAAAACAAAAACAC -3'
(R):5'- CTCCAACAGCTCAGAGGAGAG -3'

Posted On

2014-10-30