Mutagenetix > Incidental Mutation

Incidental Mutation 'R7088:Wac'

550048

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 #

R7088 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7868832-7973547 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7921455 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 530 (H530Q)

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: H485Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074454
Gene: ENSMUSG00000024283
AA Change: H485Q

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: H427Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000089746
Gene: ENSMUSG00000024283
AA Change: H427Q

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

SMART Domains

Protein: ENSMUSP00000126815
Gene: ENSMUSG00000024283
AA Change: H283Q

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: H530Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132117
Gene: ENSMUSG00000024283
AA Change: H530Q

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

probably damaging
Transcript: ENSMUST00000169478
AA Change: H112Q

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

SMART Domains

Protein: ENSMUSP00000130467
Gene: ENSMUSG00000024283
AA Change: H112Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000171042
AA Change: H378Q

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

SMART Domains

Protein: ENSMUSP00000133185
Gene: ENSMUSG00000024283
AA Change: H378Q

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: H379Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127848
Gene: ENSMUSG00000024283
AA Change: H379Q

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: H481Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128321
Gene: ENSMUSG00000024283
AA Change: H481Q

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: 99.3%

Validation Efficiency

99% (77/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	G	T	11: 83,440,406	E48*	probably null	Het
2410089E03Rik	C	T	15: 8,218,947	T1660M	probably benign	Het
5830473C10Rik	T	A	5: 90,572,750	L260*	probably null	Het
Acaca	T	C	11: 84,278,957		probably null	Het
AI314180	A	T	4: 58,849,766	L458I	possibly damaging	Het
Alkbh3	A	G	2: 94,004,752	S83P	possibly damaging	Het
Ammecr1l	T	C	18: 31,771,819	S38P	probably benign	Het
Armc10	T	C	5: 21,653,392	V145A	probably damaging	Het
BC048671	A	G	6: 90,303,240	K46R	probably null	Het
C2cd3	A	G	7: 100,416,181	T347A		Het
C8b	G	T	4: 104,793,343	E449D	probably benign	Het
Camk4	T	C	18: 32,939,531	S46P	probably benign	Het
Ccdc113	G	A	8: 95,538,105	R81H	probably benign	Het
Cd177	A	T	7: 24,745,133	C674*	probably null	Het
Cdc6	T	A	11: 98,919,239	V458D	probably damaging	Het
Cenpo	C	T	12: 4,215,307	E238K	probably benign	Het
Ckap2	G	T	8: 22,169,866	P533Q	possibly damaging	Het
Cma1	T	A	14: 55,943,816	H44L	probably damaging	Het
Cmya5	A	T	13: 93,091,864	S2239T	possibly damaging	Het
Cntnap5b	T	A	1: 100,160,077	I141N	probably damaging	Het
Col6a4	T	A	9: 106,000,686	T2031S	possibly damaging	Het
Cxcr5	T	A	9: 44,513,386	T325S	possibly damaging	Het
Dhx32	A	T	7: 133,742,688	L204Q	probably damaging	Het
Dse	A	G	10: 34,153,889	Y402H	probably damaging	Het
Exoc6	G	T	19: 37,577,010	C178F	probably damaging	Het
Fam149a	A	G	8: 45,350,545	V384A	probably benign	Het
Fcrl5	T	C	3: 87,457,834	*597Q	probably null	Het
Fer1l6	A	G	15: 58,564,050	K431E	possibly damaging	Het
Fmo3	T	A	1: 162,968,865	H46L	probably benign	Het
Gcm2	T	C	13: 41,103,364	D303G	probably damaging	Het
Gk2	T	C	5: 97,455,675	M435V	probably damaging	Het
Gli1	C	A	10: 127,335,999	M295I	probably damaging	Het
Gm11444	G	T	11: 85,847,036	H109Q		Het
Gtpbp1	T	A	15: 79,719,282	D182E		Het
Hnf4g	A	T	3: 3,648,125		probably null	Het
Hsf2	G	A	10: 57,512,092	R483H	probably damaging	Het
Kcnq4	C	T	4: 120,704,399	R491H	probably damaging	Het
Lama3	T	C	18: 12,582,545	V1686A	possibly damaging	Het
Larp6	A	G	9: 60,724,355	K137E	probably damaging	Het
Mboat1	T	G	13: 30,195,789		probably null	Het
Mdh1	T	C	11: 21,558,484	Y286C	probably damaging	Het
Mga	G	T	2: 119,961,936	K2607N	probably damaging	Het
Morf4l1	C	A	9: 90,097,380	V183F	possibly damaging	Het
Mroh4	G	A	15: 74,626,144	R196W	probably benign	Het
Muc16	C	A	9: 18,592,680	M6438I	probably damaging	Het
Myom3	A	G	4: 135,803,278	Y1167C	probably damaging	Het
Neurl3	T	C	1: 36,269,221	E170G	possibly damaging	Het
Nsd3	T	C	8: 25,666,034	I539T	probably benign	Het
Nup155	T	C	15: 8,156,693	F1313S	probably benign	Het
Nxn	A	T	11: 76,263,148	V287E	possibly damaging	Het
Olfr1253	G	A	2: 89,752,099	T243I	probably benign	Het
Olfr1354	A	C	10: 78,917,759	L306F	probably benign	Het
Olfr891	C	A	9: 38,180,452	V124F	probably damaging	Het
Pax6	A	G	2: 105,696,408	N220D	probably benign	Het
Pcdha11	G	A	18: 37,005,417	R33H	probably benign	Het
Pdzd8	A	G	19: 59,344,957	F211L	probably damaging	Het
Pear1	C	A	3: 87,754,638	V477F	possibly damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 172,128,583		probably null	Het
Pidd1	A	T	7: 141,440,487	V539E	probably damaging	Het
Ptprg	A	T	14: 12,207,365	I878F	probably damaging	Het
Rabepk	T	C	2: 34,785,699	T140A	probably benign	Het
Ranbp2	G	T	10: 58,463,906	R454L	probably damaging	Het
Rnf123	C	T	9: 108,058,536	R943Q	probably null	Het
Sash1	G	A	10: 8,729,717	R970*	probably null	Het
Serpinb2	C	A	1: 107,524,692	F333L	probably damaging	Het
Shank3	T	A	15: 89,503,525		probably null	Het
Slc9a2	A	C	1: 40,726,379	I310L	probably damaging	Het
Strip2	T	A	6: 29,920,533		probably null	Het
Thoc3	T	C	13: 54,463,752	T241A	probably damaging	Het
Tmem139	T	A	6: 42,263,265	V2E	probably damaging	Het
Usp24	G	T	4: 106,387,546	V1233F	probably damaging	Het
Vnn1	A	G	10: 23,900,747	Q332R	probably benign	Het
Wdr35	T	A	12: 8,978,659	N92K	probably benign	Het
Zbtb18	T	G	1: 177,447,254	L60R	probably damaging	Het
Zfp184	T	A	13: 21,959,992	C623S	probably damaging	Het
Zfp292	A	G	4: 34,806,796	Y2088H	probably damaging	Het
Zfp975	G	T	7: 42,662,672	S172R	probably benign	Het
Zswim2	G	A	2: 83,915,727	Q456*	probably null	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
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
R9149:Wac	UTSW	18	7921592	missense	probably damaging	0.99
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'- CTCTAATGTTCCAAACGCTGTTG -3'
(R):5'- ACGAGGGAGAGATATACCTGTTTC -3'

Sequencing Primer
(F):5'- GTTCCAAACGCTGTTGAGTAATAC -3'
(R):5'- AGAGATATACCTGTTTCTCTGCG -3'

Posted On

2019-05-15