Mutagenetix > Incidental Mutation

Incidental Mutation 'R4956:Wtap'

381605

Institutional Source

Beutler Lab

Gene Symbol

Wtap

Ensembl Gene

ENSMUSG00000060475

Gene Name

WT1 associating protein

Synonyms

2810408K05Rik, 9430038B09Rik

MMRRC Submission

042553-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4956 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13185686-13211430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13186423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 375 (T375A)

Ref Sequence

ENSEMBL: ENSMUSP00000124205 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000007007
AA Change: T375A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000007007
Gene: ENSMUSG00000060475
AA Change: T375A

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 benign
Transcript: ENSMUST00000159551
AA Change: T375A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000124205
Gene: ENSMUSG00000060475
AA Change: T375A

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

0.0765

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

96% (70/73)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	C	1: 120,096,840 (GRCm39)		probably benign	Het
3110009E18Rik	C	T	1: 120,096,850 (GRCm39)		probably benign	Het
3110009E18Rik	G	T	1: 120,096,849 (GRCm39)		probably benign	Het
4930562C15Rik	A	G	16: 4,672,816 (GRCm39)	K866E	probably damaging	Het
Afap1l2	T	C	19: 56,931,879 (GRCm39)	M49V	probably benign	Het
Atf7ip	C	T	6: 136,583,808 (GRCm39)	R1280C	probably damaging	Het
Atp2a2	A	G	5: 122,599,643 (GRCm39)	F583L	probably benign	Het
Atxn7l3b	A	G	10: 112,764,501 (GRCm39)	C43R	probably damaging	Het
Axin2	T	C	11: 108,833,904 (GRCm39)	V617A	probably damaging	Het
Bltp3a	T	A	17: 28,108,958 (GRCm39)		probably null	Het
Brd1	A	T	15: 88,614,316 (GRCm39)	F193Y	probably damaging	Het
Cdc27	T	C	11: 104,420,221 (GRCm39)	S141G	probably damaging	Het
Chst9	A	T	18: 15,851,045 (GRCm39)	F7Y	probably damaging	Het
Cpn2	T	A	16: 30,079,233 (GRCm39)	Q156L	possibly damaging	Het
Dcaf6	A	T	1: 165,216,354 (GRCm39)	D416E	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Eif2s3y	A	G	Y: 1,023,407 (GRCm39)	T430A	possibly damaging	Het
Enah	G	A	1: 181,745,854 (GRCm39)	T401I	probably damaging	Het
Esp38	T	G	17: 40,266,053 (GRCm39)	I54R	probably damaging	Het
Ffar4	C	T	19: 38,086,028 (GRCm39)	R152W	probably benign	Het
Flvcr1	A	G	1: 190,758,383 (GRCm39)		probably benign	Het
Fzd9	G	A	5: 135,278,796 (GRCm39)	A363V	probably damaging	Het
Gadl1	T	A	9: 115,869,987 (GRCm39)	I451N	probably benign	Het
Hmg20a	A	G	9: 56,388,948 (GRCm39)	T172A	probably damaging	Het
Ints1	G	A	5: 139,742,885 (GRCm39)	T1695M	probably damaging	Het
Ipo13	G	A	4: 117,758,768 (GRCm39)	A699V	probably benign	Het
Ipo9	A	G	1: 135,331,960 (GRCm39)		probably null	Het
Klra17	A	G	6: 129,850,279 (GRCm39)	L57P	probably damaging	Het
Map3k8	A	C	18: 4,339,530 (GRCm39)	D280E	probably benign	Het
Mycbp2	A	G	14: 103,524,675 (GRCm39)	F662L	probably damaging	Het
Ncor1	T	A	11: 62,231,431 (GRCm39)	H792L	probably damaging	Het
Nlrx1	T	A	9: 44,173,909 (GRCm39)	K431*	probably null	Het
Nos1	A	G	5: 118,085,575 (GRCm39)	N1301S	probably benign	Het
Obp2b	A	G	2: 25,627,087 (GRCm39)	T7A	probably damaging	Het
Odc1	T	C	12: 17,597,958 (GRCm39)	I95T	probably damaging	Het
Or2t43	A	G	11: 58,457,344 (GRCm39)	Y276H	probably damaging	Het
Or4c127	G	A	2: 89,833,187 (GRCm39)	V146M	probably benign	Het
Or5b97	C	T	19: 12,878,963 (GRCm39)	M60I	probably damaging	Het
Or6ae1	A	G	7: 139,741,993 (GRCm39)	I290T	possibly damaging	Het
Or6c1	A	T	10: 129,517,968 (GRCm39)	F213L	probably benign	Het
Pcif1	A	T	2: 164,731,610 (GRCm39)	Q521L	probably damaging	Het
Plekhg2	A	C	7: 28,067,780 (GRCm39)	L223R	probably damaging	Het
Plod3	A	G	5: 137,018,772 (GRCm39)	N270D	probably damaging	Het
Ppp1r37	A	T	7: 19,266,636 (GRCm39)	L417*	probably null	Het
Psmd6	C	T	14: 14,116,166 (GRCm38)	V141I	probably benign	Het
Rcn1	A	T	2: 105,225,121 (GRCm39)	Y111*	probably null	Het
Rell2	G	A	18: 38,090,758 (GRCm39)	R145H	probably damaging	Het
Scaper	T	C	9: 55,745,426 (GRCm39)	K614R	probably damaging	Het
Scart2	A	G	7: 139,878,275 (GRCm39)	I1001V	probably benign	Het
Shbg	C	T	11: 69,508,045 (GRCm39)	E107K	probably damaging	Het
Slc30a3	G	A	5: 31,244,247 (GRCm39)	P345L	possibly damaging	Het
Tchp	A	C	5: 114,857,681 (GRCm39)	E391D	probably damaging	Het
Timeless	A	G	10: 128,077,520 (GRCm39)	D200G	probably damaging	Het
Tspear	A	G	10: 77,700,601 (GRCm39)	T144A	possibly damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vgll3	T	C	16: 65,624,820 (GRCm39)	V56A	possibly damaging	Het
Vmn2r71	C	T	7: 85,268,436 (GRCm39)	T213I	probably benign	Het
Yipf2	T	G	9: 21,503,204 (GRCm39)	T88P	probably damaging	Het
Zfp382	T	A	7: 29,830,979 (GRCm39)	D89E	probably benign	Het
Zfp955b	C	T	17: 33,524,209 (GRCm39)		probably benign	Het
Zpr1	C	T	9: 46,185,961 (GRCm39)	T144I	probably damaging	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
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'- TTCAAAGTGGCAGAGGTATTGAAGC -3'
(R):5'- TCCAACAGCTCAGAGGAGAG -3'

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

Posted On

2016-04-27