Mutagenetix > Incidental Mutation

Incidental Mutation 'R7752:Wipf3'

597290

Institutional Source

Beutler Lab

Gene Symbol

Wipf3

Ensembl Gene

ENSMUSG00000086040

Gene Name

WAS/WASL interacting protein family, member 3

Synonyms

MMRRC Submission

045808-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

R7752 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54406588-54480753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54458896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 84 (I84V)

Ref Sequence

ENSEMBL: ENSMUSP00000132022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000126637] [ENSMUST00000132855] [ENSMUST00000163746] [ENSMUST00000172046]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000126637
AA Change: I84V

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000116325
Gene: ENSMUSG00000086040
AA Change: I84V

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
WH2	56	73	2.16e-5	SMART
low complexity region	94	105	N/A	INTRINSIC
low complexity region	175	204	N/A	INTRINSIC
low complexity region	221	251	N/A	INTRINSIC
low complexity region	257	276	N/A	INTRINSIC
low complexity region	296	312	N/A	INTRINSIC
low complexity region	334	348	N/A	INTRINSIC
low complexity region	384	390	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128480

Predicted Effect

probably benign
Transcript: ENSMUST00000132855
AA Change: I84V

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120240
Gene: ENSMUSG00000086040
AA Change: I84V

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
WH2	56	73	2.16e-5	SMART
low complexity region	94	105	N/A	INTRINSIC
low complexity region	175	204	N/A	INTRINSIC
low complexity region	221	251	N/A	INTRINSIC
low complexity region	257	276	N/A	INTRINSIC
low complexity region	296	312	N/A	INTRINSIC
low complexity region	334	348	N/A	INTRINSIC
low complexity region	384	390	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163746
AA Change: I84V

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000132022
Gene: ENSMUSG00000086040
AA Change: I84V

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
WH2	56	73	2.16e-5	SMART
low complexity region	94	105	N/A	INTRINSIC
low complexity region	175	204	N/A	INTRINSIC
low complexity region	221	251	N/A	INTRINSIC
low complexity region	257	276	N/A	INTRINSIC
low complexity region	296	312	N/A	INTRINSIC
low complexity region	334	348	N/A	INTRINSIC
low complexity region	384	390	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172046
AA Change: I84V

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000132138
Gene: ENSMUSG00000086040
AA Change: I84V

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
WH2	56	73	2.16e-5	SMART
low complexity region	94	105	N/A	INTRINSIC
low complexity region	175	204	N/A	INTRINSIC
low complexity region	221	251	N/A	INTRINSIC
low complexity region	257	276	N/A	INTRINSIC
low complexity region	296	312	N/A	INTRINSIC
low complexity region	334	348	N/A	INTRINSIC
low complexity region	384	390	N/A	INTRINSIC

Meta Mutation Damage Score

0.0775

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele display impaired spermatogenesis, abnormal sperm head morphology, and significantly reduced male fertility. Female fertility is not affected. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg2	A	T	5: 137,665,966 (GRCm39)	F98I	probably damaging	Het
Akap13	T	A	7: 75,327,006 (GRCm39)	N668K	possibly damaging	Het
Aox4	G	A	1: 58,293,107 (GRCm39)	V868I	not run	Het
Ccdc39	T	C	3: 33,886,766 (GRCm39)	R281G	possibly damaging	Het
Ccnt1	A	T	15: 98,441,797 (GRCm39)	D490E	probably benign	Het
Cfhr2	T	A	1: 139,741,322 (GRCm39)	I218F	probably damaging	Het
Clcn4	T	C	7: 7,296,936 (GRCm39)	K234R	probably benign	Het
Col4a2	A	T	8: 11,479,358 (GRCm39)	D747V	probably benign	Het
Cplane1	A	G	15: 8,299,190 (GRCm39)	E3126G	unknown	Het
Csf1r	T	A	18: 61,243,368 (GRCm39)	L128Q	probably damaging	Het
Dcp1b	G	T	6: 119,152,318 (GRCm39)	R22L	possibly damaging	Het
Ddx6	T	G	9: 44,538,960 (GRCm39)	F256C	probably damaging	Het
Diras1	C	T	10: 80,857,895 (GRCm39)	V119M	probably damaging	Het
Ect2l	T	A	10: 18,017,712 (GRCm39)	D681V	possibly damaging	Het
Eme1	G	T	11: 94,541,645 (GRCm39)	P59Q	probably damaging	Het
Farp1	G	C	14: 121,495,359 (GRCm39)	E605Q	probably damaging	Het
Frem1	G	T	4: 82,877,614 (GRCm39)	T1321K	probably benign	Het
Gcn1	T	A	5: 115,753,627 (GRCm39)	L2326Q	probably damaging	Het
Gpld1	T	A	13: 25,146,758 (GRCm39)	V240E	probably damaging	Het
Gpr4	C	A	7: 18,956,340 (GRCm39)	H87Q	probably damaging	Het
Ifi213	A	T	1: 173,394,784 (GRCm39)	S584T	probably benign	Het
Il36b	C	T	2: 24,048,826 (GRCm39)	T77M	possibly damaging	Het
Inf2	A	G	12: 112,576,118 (GRCm39)	E865G	unknown	Het
Klk1b1	T	C	7: 43,620,669 (GRCm39)	I253T	probably damaging	Het
Lcmt1	G	T	7: 122,969,030 (GRCm39)	M8I	unknown	Het
Mrs2	T	A	13: 25,202,549 (GRCm39)	D64V	possibly damaging	Het
Ms4a20	A	G	19: 11,079,224 (GRCm39)	I148T	probably benign	Het
Muc4	A	G	16: 32,589,108 (GRCm39)	Y755C		Het
Ncoa3	T	A	2: 165,907,688 (GRCm39)	L1099*	probably null	Het
Nlrp6	T	C	7: 140,507,353 (GRCm39)	V873A	possibly damaging	Het
Nup155	C	T	15: 8,145,926 (GRCm39)	P159L	possibly damaging	Het
Or10v1	A	T	19: 11,873,898 (GRCm39)	H171L	probably benign	Het
Or1ak2	A	T	2: 36,827,630 (GRCm39)	L166F	probably damaging	Het
Or4m1	A	T	14: 50,557,573 (GRCm39)	S240T	probably damaging	Het
Pex5	A	G	6: 124,380,860 (GRCm39)	S255P	probably damaging	Het
Pex5	T	C	6: 124,390,977 (GRCm39)	T58A	probably benign	Het
Phip	T	G	9: 82,772,203 (GRCm39)	M1115L	probably benign	Het
Ppl	T	G	16: 4,920,166 (GRCm39)	S410R	probably benign	Het
Ppp1r17	G	A	6: 55,999,441 (GRCm39)	D25N	probably damaging	Het
Pramel51	T	C	12: 88,142,769 (GRCm39)	E478G	probably damaging	Het
Prox2	T	A	12: 85,134,815 (GRCm39)	I489F	probably damaging	Het
Ptprb	C	G	10: 116,205,333 (GRCm39)	P1896A	probably benign	Het
Rgl2	T	C	17: 34,154,799 (GRCm39)	L601P	possibly damaging	Het
Sash1	C	T	10: 8,656,328 (GRCm39)	W221*	probably null	Het
Skint1	A	C	4: 111,876,399 (GRCm39)	T107P	probably damaging	Het
Slc41a2	A	G	10: 83,091,905 (GRCm39)	S453P	possibly damaging	Het
Sox11	A	T	12: 27,391,439 (GRCm39)	N323K	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Thbd	C	A	2: 148,248,894 (GRCm39)	V325L	probably damaging	Het
Tmco5	T	C	2: 116,722,743 (GRCm39)	F288S	probably damaging	Het
Traj16	T	C	14: 54,440,645 (GRCm39)	Y19H	unknown	Het
Trip11	A	G	12: 101,853,233 (GRCm39)	V454A	probably benign	Het
Tsg101	G	T	7: 46,563,183 (GRCm39)	Q24K	probably benign	Het
Ttn	T	C	2: 76,555,370 (GRCm39)	E30545G	probably damaging	Het
Unkl	T	C	17: 25,437,627 (GRCm39)	S200P	probably damaging	Het
Vwa2	T	A	19: 56,897,672 (GRCm39)	I659N	probably damaging	Het
Zfp592	T	G	7: 80,674,469 (GRCm39)	S478A	probably benign	Het
Zfp664	A	T	5: 124,962,839 (GRCm39)	K78*	probably null	Het
Zfp738	A	T	13: 67,821,110 (GRCm39)	L79*	probably null	Het
Zfyve28	C	T	5: 34,382,326 (GRCm39)	R258Q	probably damaging	Het

Other mutations in Wipf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0234:Wipf3	UTSW	6	54,473,486 (GRCm39)	missense	probably damaging	0.99
R0234:Wipf3	UTSW	6	54,473,486 (GRCm39)	missense	probably damaging	0.99
R0427:Wipf3	UTSW	6	54,460,882 (GRCm39)	missense	possibly damaging	0.65
R0529:Wipf3	UTSW	6	54,462,348 (GRCm39)	missense	probably damaging	0.97
R0699:Wipf3	UTSW	6	54,460,817 (GRCm39)	missense	probably damaging	0.99
R2246:Wipf3	UTSW	6	54,466,058 (GRCm39)	missense	probably damaging	0.99
R3809:Wipf3	UTSW	6	54,458,780 (GRCm39)	missense	probably damaging	0.96
R4037:Wipf3	UTSW	6	54,458,813 (GRCm39)	missense	probably damaging	1.00
R4038:Wipf3	UTSW	6	54,458,813 (GRCm39)	missense	probably damaging	1.00
R4613:Wipf3	UTSW	6	54,462,540 (GRCm39)	missense	probably damaging	1.00
R5144:Wipf3	UTSW	6	54,462,660 (GRCm39)	missense	probably damaging	1.00
R5408:Wipf3	UTSW	6	54,458,896 (GRCm39)	missense	probably benign	0.25
R5464:Wipf3	UTSW	6	54,462,308 (GRCm39)	missense	possibly damaging	0.46
R7116:Wipf3	UTSW	6	54,458,904 (GRCm39)	critical splice donor site	probably null
R7383:Wipf3	UTSW	6	54,462,263 (GRCm39)	missense	probably benign	0.04
R7577:Wipf3	UTSW	6	54,462,509 (GRCm39)	missense	possibly damaging	0.91
R8117:Wipf3	UTSW	6	54,460,816 (GRCm39)	missense	probably benign	0.27
R8472:Wipf3	UTSW	6	54,466,070 (GRCm39)	missense	probably benign	0.02
R9264:Wipf3	UTSW	6	54,460,866 (GRCm39)	missense	probably benign	0.05
R9694:Wipf3	UTSW	6	54,466,004 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GTTCCTGGCCTTGGAAATGG -3'
(R):5'- CCTTTCAGAGAGGAGTGTCTG -3'

Sequencing Primer
(F):5'- GAGCATTTTGTTTCTCTGCAAATGC -3'
(R):5'- CAGAGAGGAGTGTCTGAATCTCTC -3'

Posted On

2019-11-26