Mutagenetix > Incidental Mutation

Incidental Mutation 'R6366:Wtap'

512712

Institutional Source

Beutler Lab

Gene Symbol

Wtap

Ensembl Gene

ENSMUSG00000060475

Gene Name

WT1 associating protein

Synonyms

2810408K05Rik, 9430038B09Rik

MMRRC Submission

044516-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6366 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13185686-13211430 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 13186945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124205 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000007007

SMART Domains

Protein: ENSMUSP00000007007
Gene: ENSMUSG00000060475

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: ENSMUST00000159551

SMART Domains

Protein: ENSMUSP00000124205
Gene: ENSMUSG00000060475

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 benign
Transcript: ENSMUST00000159986

SMART Domains

Protein: ENSMUSP00000123961
Gene: ENSMUSG00000060475

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160654

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.0%
20x: 93.4%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	G	3: 116,584,766 (GRCm39)	F185L	probably damaging	Het
Ank3	A	G	10: 69,835,188 (GRCm39)	D131G	probably damaging	Het
Boc	T	C	16: 44,308,015 (GRCm39)	K947E	probably benign	Het
Ccdc110	A	G	8: 46,396,425 (GRCm39)	E772G	probably damaging	Het
Ccdc7a	A	G	8: 129,582,473 (GRCm39)	V1055A	unknown	Het
Chd1l	A	G	3: 97,501,476 (GRCm39)	V190A	probably benign	Het
Chl1	C	A	6: 103,706,197 (GRCm39)	N396K	possibly damaging	Het
CN725425	T	G	15: 91,131,124 (GRCm39)	Y420D	possibly damaging	Het
Col6a1	A	T	10: 76,546,804 (GRCm39)	I806N	unknown	Het
Csmd2	A	G	4: 128,377,245 (GRCm39)	K2042E	probably benign	Het
Eif4a1	G	T	11: 69,561,781 (GRCm39)	D15E	probably benign	Het
Etfb	T	C	7: 43,102,365 (GRCm39)	L119S	probably damaging	Het
Fbxo42	T	A	4: 140,927,260 (GRCm39)	S513R	probably benign	Het
Gys2	C	A	6: 142,409,120 (GRCm39)	C45F	probably benign	Het
Hspa1a	G	A	17: 35,189,500 (GRCm39)	P468S	probably damaging	Het
Kdm2a	G	T	19: 4,374,960 (GRCm39)	Q724K	probably benign	Het
Lama3	G	T	18: 12,615,194 (GRCm39)	G1373W	probably damaging	Het
Lhx1	A	T	11: 84,413,034 (GRCm39)	F84Y	probably damaging	Het
Lpxn	G	A	19: 12,802,163 (GRCm39)	V163M	probably benign	Het
Lrrc7	T	C	3: 157,841,012 (GRCm39)	Q1389R	probably benign	Het
Lrtm2	T	C	6: 119,294,238 (GRCm39)	R298G	probably damaging	Het
Ltv1	A	G	10: 13,056,739 (GRCm39)	V268A	probably benign	Het
Mgat4d	T	A	8: 84,095,580 (GRCm39)		probably null	Het
Mknk2	C	A	10: 80,507,767 (GRCm39)	R33L	probably damaging	Het
Ms4a1	A	G	19: 11,236,062 (GRCm39)	S42P	probably damaging	Het
Muc16	T	C	9: 18,557,340 (GRCm39)	I2984M	unknown	Het
Mup12	A	C	4: 60,696,657 (GRCm39)	F74V	probably damaging	Het
Nacad	A	C	11: 6,551,196 (GRCm39)	L665R	probably benign	Het
Pde6a	T	A	18: 61,398,142 (GRCm39)		probably null	Het
Plb1	A	G	5: 32,471,429 (GRCm39)	N579D	possibly damaging	Het
Podn	T	A	4: 107,876,001 (GRCm39)	I552F	possibly damaging	Het
Potefam1	A	G	2: 110,999,937 (GRCm39)		probably null	Het
Pramel32	T	A	4: 88,547,102 (GRCm39)	I106F	probably damaging	Het
Prl3b1	A	T	13: 27,427,875 (GRCm39)	M62L	probably benign	Het
Ptpn13	G	T	5: 103,698,919 (GRCm39)	R1134L	probably damaging	Het
Rpl37	T	A	15: 5,147,990 (GRCm39)		probably null	Het
Samd4	T	A	14: 47,311,607 (GRCm39)		probably null	Het
Sh3rf2	T	C	18: 42,286,130 (GRCm39)	V541A	probably benign	Het
Shcbp1	A	G	8: 4,799,380 (GRCm39)	V335A	probably damaging	Het
Slc7a7	T	C	14: 54,612,057 (GRCm39)	Y282C	probably damaging	Het
Spag7	T	C	11: 70,555,418 (GRCm39)	K125E	possibly damaging	Het
Spata31e4	T	C	13: 50,855,972 (GRCm39)	Y537H	probably benign	Het
Sptan1	T	C	2: 29,910,467 (GRCm39)	S1831P	possibly damaging	Het
Stab1	T	C	14: 30,863,395 (GRCm39)	K2097R	probably benign	Het
Stk38	A	G	17: 29,193,338 (GRCm39)	W364R	probably benign	Het
Tectb	G	A	19: 55,170,350 (GRCm39)	G67D	probably damaging	Het
Ttll9	G	T	2: 152,833,525 (GRCm39)	D208Y	probably damaging	Het
Tyro3	G	A	2: 119,647,156 (GRCm39)	D758N	probably damaging	Het
Tyw1	T	C	5: 130,310,792 (GRCm39)		probably benign	Het
Unc5b	C	T	10: 60,614,091 (GRCm39)	A253T	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
R5044:Wtap	UTSW	17	13,186,525 (GRCm39)	missense	possibly damaging	0.47
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'- ATTTGCCAGACGACTGCAGTC -3'
(R):5'- AAGATATTAGCCGGGTGGTG -3'

Sequencing Primer
(F):5'- TCTACAGGTTCAGAAGATGTAGTCC -3'
(R):5'- CCGGGTGGTGGTGGTGG -3'

Posted On

2018-04-27