Mutagenetix > Incidental Mutation

Incidental Mutation 'R9149:Wac'

694936

Institutional Source

Beutler Lab

Gene Symbol

Wac

Ensembl Gene

ENSMUSG00000024283

Gene Name

WW domain containing adaptor with coiled-coil

Synonyms

1110067P07Rik, A230035H12Rik, Wwp4

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9149 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7868832-7973547 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7921592 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 576 (D576G)

Ref Sequence

ENSEMBL: ENSMUSP00000132117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074919] [ENSMUST00000092112] [ENSMUST00000167020] [ENSMUST00000169478] [ENSMUST00000171042] [ENSMUST00000171486] [ENSMUST00000172018]

AlphaFold

Q924H7

Predicted Effect

probably damaging
Transcript: ENSMUST00000074919
AA Change: D531G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074454
Gene: ENSMUSG00000024283
AA Change: D531G

Domain	Start	End	E-Value	Type
low complexity region	55	77	N/A	INTRINSIC
WW	85	117	2.12e-7	SMART
low complexity region	207	222	N/A	INTRINSIC
low complexity region	287	307	N/A	INTRINSIC
low complexity region	320	331	N/A	INTRINSIC
low complexity region	466	481	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000092112
AA Change: D473G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089746
Gene: ENSMUSG00000024283
AA Change: D473G

Domain	Start	End	E-Value	Type
low complexity region	100	122	N/A	INTRINSIC
WW	130	162	2.12e-7	SMART
low complexity region	229	249	N/A	INTRINSIC
low complexity region	262	273	N/A	INTRINSIC
low complexity region	408	423	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165854

SMART Domains

Protein: ENSMUSP00000126815
Gene: ENSMUSG00000024283

Domain	Start	End	E-Value	Type
low complexity region	20	42	N/A	INTRINSIC
WW	50	82	2.12e-7	SMART
low complexity region	265	280	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167020
AA Change: D576G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132117
Gene: ENSMUSG00000024283
AA Change: D576G

Domain	Start	End	E-Value	Type
low complexity region	100	122	N/A	INTRINSIC
WW	130	162	2.12e-7	SMART
low complexity region	252	267	N/A	INTRINSIC
low complexity region	332	352	N/A	INTRINSIC
low complexity region	365	376	N/A	INTRINSIC
low complexity region	511	526	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167542

SMART Domains

Protein: ENSMUSP00000125989
Gene: ENSMUSG00000024283

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	95	115	N/A	INTRINSIC
low complexity region	128	139	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169478
AA Change: D158G

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130467
Gene: ENSMUSG00000024283
AA Change: D158G

Domain	Start	End	E-Value	Type
low complexity region	94	108	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171042
AA Change: D424G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133185
Gene: ENSMUSG00000024283
AA Change: D424G

Domain	Start	End	E-Value	Type
low complexity region	55	77	N/A	INTRINSIC
WW	85	117	2.12e-7	SMART
low complexity region	184	204	N/A	INTRINSIC
low complexity region	217	228	N/A	INTRINSIC
low complexity region	359	374	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000171486
AA Change: D425G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127848
Gene: ENSMUSG00000024283
AA Change: D425G

Domain	Start	End	E-Value	Type
low complexity region	55	77	N/A	INTRINSIC
WW	85	117	2.12e-7	SMART
low complexity region	184	204	N/A	INTRINSIC
low complexity region	217	228	N/A	INTRINSIC
low complexity region	360	375	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000172018
AA Change: D527G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128321
Gene: ENSMUSG00000024283
AA Change: D527G

Domain	Start	End	E-Value	Type
low complexity region	55	77	N/A	INTRINSIC
WW	85	117	2.12e-7	SMART
low complexity region	207	222	N/A	INTRINSIC
low complexity region	287	307	N/A	INTRINSIC
low complexity region	320	331	N/A	INTRINSIC
low complexity region	463	477	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (90/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,446,304	S103N	probably benign	Het
Ace	A	G	11: 105,972,473	D358G	possibly damaging	Het
Acvr2b	A	T	9: 119,428,050	H115L	probably damaging	Het
Adam15	G	A	3: 89,347,435	T106I	possibly damaging	Het
Adamts16	A	G	13: 70,735,829	C1076R	probably damaging	Het
Adcy5	A	G	16: 35,272,111	Y614C	probably damaging	Het
Adhfe1	A	T	1: 9,557,051	H225L	probably benign	Het
Aff3	A	G	1: 38,181,316	I1171T	probably damaging	Het
Agps	T	A	2: 75,866,838	M334K	probably damaging	Het
Akr1e1	A	G	13: 4,602,679		probably null	Het
Als2cl	G	A	9: 110,889,123	V311M	probably benign	Het
Amdhd1	A	T	10: 93,539,951	L7H	probably damaging	Het
Apba1	A	T	19: 23,893,418	I205F	probably damaging	Het
Arhgap26	A	T	18: 39,111,864	E187D	possibly damaging	Het
Ash1l	A	T	3: 89,007,223	H1720L	probably benign	Het
Atp9a	T	C	2: 168,734,068		probably benign	Het
Bcl7c	G	A	7: 127,708,523	A2V	probably damaging	Het
Catsperg1	G	C	7: 29,210,487	P72R	probably benign	Het
Ccdc103	G	A	11: 102,884,096	G174R	probably benign	Het
Ccdc171	A	T	4: 83,694,275	K976M	probably damaging	Het
Ceacam1	T	C	7: 25,473,935	N276S	possibly damaging	Het
Cep152	T	C	2: 125,619,883	N91S	probably damaging	Het
Cep152	T	C	2: 125,621,207	E18G	probably damaging	Het
Cers3	T	C	7: 66,743,694	L17P	probably benign	Het
Cpsf3	A	G	12: 21,306,843	N489S	possibly damaging	Het
Cramp1l	A	G	17: 24,968,946	S1225P	probably damaging	Het
Dck	G	A	5: 88,765,307	G18R	probably benign	Het
Dnah5	A	T	15: 28,387,768	E3124D	probably benign	Het
Eogt	T	G	6: 97,113,878	L433F	probably damaging	Het
Fam135b	A	G	15: 71,462,895	S817P		Het
Fsip2	T	C	2: 82,982,030	Y2898H	possibly damaging	Het
Fzr1	T	C	10: 81,369,415	H249R	probably benign	Het
Gbp10	T	G	5: 105,218,995	Q457P	probably damaging	Het
Gin1	G	C	1: 97,783,094	L167F	probably damaging	Het
Gm14226	A	T	2: 155,024,923	I267F	probably damaging	Het
Gmnc	A	G	16: 26,962,892		probably null	Het
Hectd2	A	T	19: 36,599,002	I311F	probably damaging	Het
Heg1	A	G	16: 33,738,591	K1085E	probably benign	Het
Hmbs	G	A	9: 44,341,686	Q34*	probably null	Het
Hyal6	T	A	6: 24,734,152	M28K	probably benign	Het
Ifi27	T	C	12: 103,439,419	V141A	possibly damaging	Het
Ift122	T	A	6: 115,890,531	I414N	probably damaging	Het
Iglv2	A	T	16: 19,260,684	V23E	probably damaging	Het
Itgax	A	T	7: 128,131,469	I120L	probably benign	Het
Kifc3	A	G	8: 95,126,689	I13T	probably benign	Het
Lmod3	T	C	6: 97,247,664	N399D	probably damaging	Het
Macf1	A	T	4: 123,471,533	I3145K	probably benign	Het
Map2k5	A	C	9: 63,293,724	I209S	probably damaging	Het
Mbd5	A	G	2: 49,251,376	E117G	probably damaging	Het
Milr1	A	G	11: 106,761,279	H172R	probably benign	Het
Myod1	A	C	7: 46,377,169	D166A		Het
Neb	C	T	2: 52,210,866	V4647M	possibly damaging	Het
Nek1	A	T	8: 61,121,021	D1101V	probably damaging	Het
Nlrp2	A	T	7: 5,327,573	V608D	probably benign	Het
Noc3l	G	A	19: 38,812,391	Q216*	probably null	Het
Nos1	G	C	5: 117,879,337	R255P	probably benign	Het
Nup160	T	A	2: 90,722,241		probably benign	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Oat	C	T	7: 132,564,277	S193N	probably benign	Het
Olfr1	T	A	11: 73,396,027		probably benign	Het
Olfr1148	G	T	2: 87,833,179	G47*	probably null	Het
Olfr344	T	G	2: 36,568,976	F126C	probably benign	Het
Olfr776	A	G	10: 129,261,315	Y118C	probably damaging	Het
Olfr812	A	G	10: 129,842,613	V143A	probably damaging	Het
Oma1	A	G	4: 103,325,017		probably null	Het
Os9	A	G	10: 127,098,049	S500P	possibly damaging	Het
Osbpl11	A	T	16: 33,227,290	N541I		Het
Pcnx4	A	G	12: 72,566,897	I539V	probably benign	Het
Ppfia3	T	A	7: 45,350,293		probably null	Het
Ppp1r3a	T	C	6: 14,722,099	K275E	probably benign	Het
Pten	A	G	19: 32,792,572	N63S	probably benign	Het
Rptor	A	G	11: 119,887,070	N1020S	probably benign	Het
Sall2	C	A	14: 52,313,216	D841Y	possibly damaging	Het
Sbno1	T	A	5: 124,381,699	H1172L	probably benign	Het
Scaf4	A	T	16: 90,230,166	L921Q	probably damaging	Het
Sec22c	C	A	9: 121,695,684	R11L	probably damaging	Het
Skint6	T	A	4: 113,176,976	D318V	probably damaging	Het
Slc22a28	T	C	19: 8,071,840	N348S	probably benign	Het
Slc44a2	G	T	9: 21,342,009	K77N	possibly damaging	Het
Smc1b	C	T	15: 85,066,230	V1198I	probably benign	Het
Spef2	A	T	15: 9,717,482	M316K	probably damaging	Het
Stra8	T	C	6: 34,934,081	Y215H	probably damaging	Het
Sv2a	G	T	3: 96,189,694	R445L	probably benign	Het
Sycp1	A	C	3: 102,851,628	L771R	probably damaging	Het
Tchp	A	T	5: 114,721,123	R493*	probably null	Het
Ttc13	G	A	8: 124,683,300	A391V	probably benign	Het
Unc13b	C	T	4: 43,176,186	T2338I	unknown	Het
Wdr34	T	A	2: 30,033,941	T191S	probably benign	Het
Xdh	T	C	17: 73,915,693	N559S	probably benign	Het
Zscan20	A	T	4: 128,588,121	S583T	probably benign	Het

Other mutations in Wac

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02404:Wac	APN	18	7917570	missense	probably damaging	1.00
BB007:Wac	UTSW	18	7921560	missense	possibly damaging	0.47
BB017:Wac	UTSW	18	7921560	missense	possibly damaging	0.47
R1077:Wac	UTSW	18	7921916	missense	probably damaging	1.00
R2915:Wac	UTSW	18	7926131	missense	possibly damaging	0.96
R3196:Wac	UTSW	18	7917568	missense	probably damaging	1.00
R3793:Wac	UTSW	18	7920190	missense	possibly damaging	0.86
R3840:Wac	UTSW	18	7918535	missense	probably damaging	1.00
R3971:Wac	UTSW	18	7916175	missense	probably damaging	1.00
R6402:Wac	UTSW	18	7901585	missense	possibly damaging	0.71
R6429:Wac	UTSW	18	7920163	missense	probably damaging	0.97
R6536:Wac	UTSW	18	7905189	splice site	probably null
R6615:Wac	UTSW	18	7868884	splice site	probably null
R6645:Wac	UTSW	18	7973523	missense	probably damaging	1.00
R7088:Wac	UTSW	18	7921455	missense	probably damaging	0.99
R7464:Wac	UTSW	18	7871746	critical splice donor site	probably null
R7760:Wac	UTSW	18	7921913	missense	probably benign	0.43
R7930:Wac	UTSW	18	7921560	missense	possibly damaging	0.47
R8515:Wac	UTSW	18	7871606	missense	probably benign	0.01
R8903:Wac	UTSW	18	7926104	nonsense	probably null
R8965:Wac	UTSW	18	7905936	missense	probably benign	0.18
X0066:Wac	UTSW	18	7916298	critical splice donor site	probably null
Z1176:Wac	UTSW	18	7973531	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGCCATCTAGATGCCCAC -3'
(R):5'- AGTGCATCTACATAATCCCAGC -3'

Sequencing Primer
(F):5'- CTTGTCTTGCAGTAGCCAGAGAAG -3'
(R):5'- CACCCTAGCAGATGAAATGATTAAG -3'

Posted On

2022-01-20