Mutagenetix > Incidental Mutation

Incidental Mutation 'R5044:Wtap'

394283

Institutional Source

Beutler Lab

Gene Symbol

Wtap

Ensembl Gene

ENSMUSG00000060475

Gene Name

WT1 associating protein

Synonyms

2810408K05Rik, 9430038B09Rik

MMRRC Submission

042634-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13185686-13211430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13186525 bp (GRCm39)

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]

AlphaFold

no structure available at present

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: 9,323,323 (GRCm39)	F3387I	possibly damaging	Het
Acacb	T	A	5: 114,304,088 (GRCm39)	S170R	probably benign	Het
Adamtsl4	A	G	3: 95,588,960 (GRCm39)		probably null	Het
Adgrv1	A	G	13: 81,637,050 (GRCm39)	C3464R	probably benign	Het
Apbb1	A	T	7: 105,214,889 (GRCm39)		probably benign	Het
Cad	A	G	5: 31,212,365 (GRCm39)	T23A	probably benign	Het
Cdca7	A	G	2: 72,313,759 (GRCm39)	R183G	probably benign	Het
Cdpf1	T	C	15: 85,693,513 (GRCm39)	T5A	probably benign	Het
Cep85	T	C	4: 133,883,490 (GRCm39)	D133G	probably damaging	Het
Chrna9	T	C	5: 66,128,359 (GRCm39)	L189P	probably damaging	Het
Clca3a1	A	C	3: 144,713,689 (GRCm39)		probably null	Het
Cntn1	G	T	15: 92,140,876 (GRCm39)	V201F	probably damaging	Het
Col4a3	A	G	1: 82,644,267 (GRCm39)	E352G	unknown	Het
Ddhd2	T	C	8: 26,242,164 (GRCm39)	Y237C	probably damaging	Het
Dnah6	A	C	6: 73,014,605 (GRCm39)	F3609V	probably benign	Het
Epha3	T	C	16: 63,422,650 (GRCm39)	K580R	possibly damaging	Het
Fam135b	T	C	15: 71,334,560 (GRCm39)	N878S	probably benign	Het
Fbn1	T	G	2: 125,171,022 (GRCm39)	T1938P	probably damaging	Het
Foxg1	T	C	12: 49,431,969 (GRCm39)	V234A	probably damaging	Het
Garin5b	T	C	7: 4,761,660 (GRCm39)	N351D	probably benign	Het
Glt1d1	A	T	5: 127,721,478 (GRCm39)	N55I	probably benign	Het
Gm17641	C	A	3: 68,776,807 (GRCm39)		probably benign	Het
Gm7665	A	G	18: 16,407,788 (GRCm39)		noncoding transcript	Het
Hgf	A	C	5: 16,819,892 (GRCm39)	N541T	probably benign	Het
Hipk2	G	A	6: 38,795,814 (GRCm39)	P152S	probably benign	Het
Jarid2	C	T	13: 45,060,041 (GRCm39)	L720F	probably damaging	Het
Kifc5b	A	G	17: 27,143,761 (GRCm39)	E511G	probably damaging	Het
Ldlr	G	A	9: 21,646,538 (GRCm39)	A235T	probably benign	Het
Lmln	A	G	16: 32,894,550 (GRCm39)	D231G	possibly damaging	Het
Lrp1	A	G	10: 127,403,364 (GRCm39)	C2070R	probably damaging	Het
Mbl1	A	G	14: 40,880,681 (GRCm39)	T190A	possibly damaging	Het
Mpdz	A	T	4: 81,299,934 (GRCm39)	S355T	probably benign	Het
Muc19	C	T	15: 91,772,332 (GRCm39)		noncoding transcript	Het
Mycbp2	A	C	14: 103,376,671 (GRCm39)		probably null	Het
Naa20	T	C	2: 145,757,762 (GRCm39)	S164P	probably damaging	Het
Nme4	A	T	17: 26,312,807 (GRCm39)		probably benign	Het
Npas2	A	T	1: 39,386,587 (GRCm39)	R619*	probably null	Het
Nudt19	G	A	7: 35,255,171 (GRCm39)	T20I	possibly damaging	Het
Or4c119	T	A	2: 88,987,283 (GRCm39)	K79*	probably null	Het
Or5b97	A	G	19: 12,878,365 (GRCm39)	Y260H	probably damaging	Het
Pitpnc1	A	G	11: 107,187,054 (GRCm39)	Y90H	possibly damaging	Het
Rcor2	A	G	19: 7,247,150 (GRCm39)	T6A	probably benign	Het
Rif1	T	A	2: 51,999,940 (GRCm39)	S1131R	probably damaging	Het
Rtkn	T	A	6: 83,127,972 (GRCm39)	D377E	probably benign	Het
Rtn4rl2	T	A	2: 84,702,846 (GRCm39)	N242I	probably damaging	Het
Sbno2	G	A	10: 79,898,022 (GRCm39)	L719F	probably benign	Het
Scn11a	G	T	9: 119,648,897 (GRCm39)	D55E	probably damaging	Het
Setd1b	T	A	5: 123,289,929 (GRCm39)	I632N	unknown	Het
Spaca6	A	G	17: 18,051,458 (GRCm39)	T45A	probably benign	Het
Srpk2	A	T	5: 23,729,390 (GRCm39)	D416E	possibly damaging	Het
Sspo	A	T	6: 48,443,889 (GRCm39)		probably null	Het
Sycp1	A	T	3: 102,752,370 (GRCm39)	I804N	probably benign	Het
Tdp2	G	A	13: 25,015,809 (GRCm39)	R32Q	probably benign	Het
Tgfbr3	A	G	5: 107,284,795 (GRCm39)	V618A	possibly damaging	Het
Tmc3	C	T	7: 83,258,326 (GRCm39)	P439S	probably benign	Het
Tnxb	A	T	17: 34,936,457 (GRCm39)	D2740V	probably damaging	Het
Tspyl4	A	G	10: 34,173,933 (GRCm39)	T142A	probably benign	Het
Ttn	T	C	2: 76,710,785 (GRCm39)		probably benign	Het
Tubgcp4	T	C	2: 121,004,061 (GRCm39)	L34P	probably damaging	Het
Tubgcp6	G	T	15: 88,983,748 (GRCm39)		probably benign	Het
Unc79	T	A	12: 103,078,962 (GRCm39)	V1690E	probably benign	Het
Vps4b	T	C	1: 106,724,148 (GRCm39)		probably null	Het
Wwc1	T	C	11: 35,774,172 (GRCm39)	T363A	probably benign	Het
Zbtb8a	G	A	4: 129,254,293 (GRCm39)	T67M	probably damaging	Het
Zfp865	T	C	7: 5,037,668 (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
R2240:Wtap	UTSW	17	13,194,352 (GRCm39)	nonsense	probably null
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
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'- CCTTTCCCCAATTAAATGACACTG -3'
(R):5'- CCAAGTAATGGCAGCTCCTC -3'

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

Posted On

2016-06-15