Mutagenetix > Incidental Mutations

Incidental Mutation 'R5044:Wtap'

394283

Institutional Source

Beutler Lab

Gene Symbol

Wtap

Ensembl Gene

ENSMUSG00000060475

Gene Name

Wilms tumour 1-associating protein

Synonyms

9430038B09Rik, 2810408K05Rik

MMRRC Submission

042634-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12966796-12992546 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12967638 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 341 (S341P)

Ref Sequence

ENSEMBL: ENSMUSP00000124205 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007007
AA Change: S341P

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000007007
Gene: ENSMUSG00000060475
AA Change: S341P

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: S341P

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124205
Gene: ENSMUSG00000060475
AA Change: S341P

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

0.0884

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

96% (73/76)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,373,323	F3387I	possibly damaging	Het
Acacb	T	A	5: 114,166,027	S170R	probably benign	Het
Adamtsl4	A	G	3: 95,681,650		probably null	Het
Adgrv1	A	G	13: 81,488,931	C3464R	probably benign	Het
Apbb1	A	T	7: 105,565,682		probably benign	Het
Cad	A	G	5: 31,055,021	T23A	probably benign	Het
Cdca7	A	G	2: 72,483,415	R183G	probably benign	Het
Cdpf1	T	C	15: 85,809,312	T5A	probably benign	Het
Cep85	T	C	4: 134,156,179	D133G	probably damaging	Het
Chrna9	T	C	5: 65,971,016	L189P	probably damaging	Het
Clca1	A	C	3: 145,007,928		probably null	Het
Cntn1	G	T	15: 92,242,995	V201F	probably damaging	Het
Col4a3	A	G	1: 82,666,546	E352G	unknown	Het
Ddhd2	T	C	8: 25,752,137	Y237C	probably damaging	Het
Dnah6	A	C	6: 73,037,622	F3609V	probably benign	Het
Epha3	T	C	16: 63,602,287	K580R	possibly damaging	Het
Fam135b	T	C	15: 71,462,711	N878S	probably benign	Het
Fam71e2	T	C	7: 4,758,661	N351D	probably benign	Het
Fbn1	T	G	2: 125,329,102	T1938P	probably damaging	Het
Foxg1	T	C	12: 49,385,186	V234A	probably damaging	Het
Glt1d1	A	T	5: 127,644,414	N55I	probably benign	Het
Gm17641	C	A	3: 68,869,474		probably benign	Het
Gm7665	A	G	18: 16,274,731		noncoding transcript	Het
Hgf	A	C	5: 16,614,894	N541T	probably benign	Het
Hipk2	G	A	6: 38,818,879	P152S	probably benign	Het
Jarid2	C	T	13: 44,906,565	L720F	probably damaging	Het
Kifc5b	A	G	17: 26,924,787	E511G	probably damaging	Het
Ldlr	G	A	9: 21,735,242	A235T	probably benign	Het
Lmln	A	G	16: 33,074,180	D231G	possibly damaging	Het
Lrp1	A	G	10: 127,567,495	C2070R	probably damaging	Het
Mbl1	A	G	14: 41,158,724	T190A	possibly damaging	Het
Mpdz	A	T	4: 81,381,697	S355T	probably benign	Het
Muc19	C	T	15: 91,888,138		noncoding transcript	Het
Mycbp2	A	C	14: 103,139,235		probably null	Het
Naa20	T	C	2: 145,915,842	S164P	probably damaging	Het
Nme4	A	T	17: 26,093,833		probably benign	Het
Npas2	A	T	1: 39,347,506	R619*	probably null	Het
Nudt19	G	A	7: 35,555,746	T20I	possibly damaging	Het
Olfr1224-ps1	T	A	2: 89,156,939	K79*	probably null	Het
Olfr1447	A	G	19: 12,901,001	Y260H	probably damaging	Het
Pitpnc1	A	G	11: 107,296,228	Y90H	possibly damaging	Het
Rcor2	A	G	19: 7,269,785	T6A	probably benign	Het
Rif1	T	A	2: 52,109,928	S1131R	probably damaging	Het
Rtkn	T	A	6: 83,150,991	D377E	probably benign	Het
Rtn4rl2	T	A	2: 84,872,502	N242I	probably damaging	Het
Sbno2	G	A	10: 80,062,188	L719F	probably benign	Het
Scn11a	G	T	9: 119,819,831	D55E	probably damaging	Het
Setd1b	T	A	5: 123,151,866	I632N	unknown	Het
Spaca6	A	G	17: 17,831,196	T45A	probably benign	Het
Srpk2	A	T	5: 23,524,392	D416E	possibly damaging	Het
Sspo	A	T	6: 48,466,955		probably null	Het
Sycp1	A	T	3: 102,845,054	I804N	probably benign	Het
Tdp2	G	A	13: 24,831,826	R32Q	probably benign	Het
Tgfbr3	A	G	5: 107,136,929	V618A	possibly damaging	Het
Tmc3	C	T	7: 83,609,118	P439S	probably benign	Het
Tnxb	A	T	17: 34,717,483	D2740V	probably damaging	Het
Tspyl4	A	G	10: 34,297,937	T142A	probably benign	Het
Ttn	T	C	2: 76,880,441		probably benign	Het
Tubgcp4	T	C	2: 121,173,580	L34P	probably damaging	Het
Tubgcp6	G	T	15: 89,099,545		probably benign	Het
Unc79	T	A	12: 103,112,703	V1690E	probably benign	Het
Vps4b	T	C	1: 106,796,418		probably null	Het
Wwc1	T	C	11: 35,883,345	T363A	probably benign	Het
Zbtb8a	G	A	4: 129,360,500	T67M	probably damaging	Het
Zfp865	T	C	7: 5,034,669		probably benign	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
R2332: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
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'- CCTTTCCCCAATTAAATGACACTG -3'
(R):5'- CCAAGTAATGGCAGCTCCTC -3'

Sequencing Primer
(F):5'- CTGGAAAAATATTACAAAACTGCACC -3'
(R):5'- AGCTCCTCCCGCCAGAG -3'

Posted On

2016-06-15