Mutagenetix > Incidental Mutation

Incidental Mutation 'R2915:Wac'

254869

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

040502-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7868832-7973547 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 7926131 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 596 (M596L)

Ref Sequence

ENSEMBL: ENSMUSP00000128321 (fasta)

Gene Model

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

AlphaFold

Q924H7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074919
AA Change: M600L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074454
Gene: ENSMUSG00000024283
AA Change: M600L

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

possibly damaging
Transcript: ENSMUST00000092112
AA Change: M542L

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000089746
Gene: ENSMUSG00000024283
AA Change: M542L

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

possibly damaging
Transcript: ENSMUST00000167020
AA Change: M645L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132117
Gene: ENSMUSG00000024283
AA Change: M645L

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: ENSMUST00000169478

SMART Domains

Protein: ENSMUSP00000130467
Gene: ENSMUSG00000024283

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171042
AA Change: M493L

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133185
Gene: ENSMUSG00000024283
AA Change: M493L

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 benign
Transcript: ENSMUST00000171486
AA Change: M494L

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127848
Gene: ENSMUSG00000024283
AA Change: M494L

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

possibly damaging
Transcript: ENSMUST00000172018
AA Change: M596L

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128321
Gene: ENSMUSG00000024283
AA Change: M596L

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

Meta Mutation Damage Score

0.3249

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Arhgap11a	A	G	2: 113,833,508	V810A	probably damaging	Het
B3gnt6	T	C	7: 98,193,593	N387D	probably benign	Het
Col5a2	C	G	1: 45,413,496	G358R	probably damaging	Het
Cracr2a	A	G	6: 127,611,505	K209R	probably damaging	Het
Dmkn	A	G	7: 30,765,316	N32S	unknown	Het
Dusp13	T	A	14: 21,740,137	N47I	probably damaging	Het
Elmo2	A	G	2: 165,297,653		probably benign	Het
Ephb6	T	C	6: 41,614,238	F110L	probably damaging	Het
Gabrb2	T	A	11: 42,591,907	N197K	probably benign	Het
Gdnf	T	A	15: 7,815,649	V41E	possibly damaging	Het
Gm21915	A	G	9: 40,670,787	I59V	possibly damaging	Het
Gprin2	C	T	14: 34,195,081	G244D	possibly damaging	Het
Grin2d	T	C	7: 45,833,357		probably benign	Het
Ice2	A	G	9: 69,410,840	D241G	probably benign	Het
Mios	C	T	6: 8,214,935	R44C	possibly damaging	Het
Nlrp5-ps	T	C	7: 14,586,711		noncoding transcript	Het
Nyap2	C	T	1: 81,087,471	R67*	probably null	Het
Olfr1031	T	A	2: 85,992,045	V76E	probably damaging	Het
Olfr1094	T	C	2: 86,829,226	I158T	probably benign	Het
Olfr1306	G	T	2: 111,912,719	D70E	probably damaging	Het
Olfr1428	G	A	19: 12,108,625	P81L	probably benign	Het
Olfr27	G	T	9: 39,144,466	R122L	possibly damaging	Het
Otop2	G	A	11: 115,329,146	A271T	probably benign	Het
Otulin	A	G	15: 27,619,630		probably benign	Het
Pax1	A	G	2: 147,368,428	Y361C	probably damaging	Het
Pcdhb12	A	T	18: 37,437,640	N613I	probably damaging	Het
Plekha5	A	G	6: 140,589,199	K173E	probably damaging	Het
Plin4	T	A	17: 56,104,389	T881S	probably damaging	Het
Poli	A	G	18: 70,522,700		probably null	Het
Prex2	T	A	1: 11,169,853	F898I	probably damaging	Het
Prr14l	A	T	5: 32,829,768	H794Q	probably benign	Het
Prss1	A	T	6: 41,462,611	I93F	probably benign	Het
Ptpro	C	T	6: 137,414,241		probably benign	Het
Rad1	T	C	15: 10,486,642	C42R	probably damaging	Het
Rnf20	A	G	4: 49,638,769	E197G	probably benign	Het
Setx	A	G	2: 29,172,324	E2260G	probably damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Six2	A	G	17: 85,685,188	S296P	probably damaging	Het
Smg1	T	A	7: 118,210,879		probably benign	Het
Spred2	T	C	11: 19,998,215	V41A	probably damaging	Het
Ssu2	A	T	6: 112,377,605	C219*	probably null	Het
Tbc1d9b	T	A	11: 50,149,736	V360D	possibly damaging	Het
Tdrd9	G	A	12: 112,040,461	D920N	probably damaging	Het
Tyrp1	A	G	4: 80,837,455	T154A	possibly damaging	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Zfhx2	G	T	14: 55,064,557	P1990Q	probably damaging	Het
Zfp853	T	C	5: 143,289,577	E96G	unknown	Het
Zzef1	G	A	11: 72,910,326		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
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
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'- CTTCAGCTCCTTGGGTGTTAAATACTC -3'
(R):5'- AGCTCTGTTACACATGGCTTCC -3'

Sequencing Primer
(F):5'- CTCCTTGGGTGTTAAATACTCTTAAC -3'
(R):5'- TTCCCATGGCTTCACTCTACAAAAC -3'

Posted On

2014-12-29