Mutagenetix > Incidental Mutation

Incidental Mutation 'R7930:Wac'

643564

Institutional Source

Beutler Lab

Gene Symbol

Wac

Ensembl Gene

ENSMUSG00000024283

Gene Name

WW domain containing adaptor with coiled-coil

Synonyms

Wwp4, A230035H12Rik, 1110067P07Rik

MMRRC Submission

045977-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7930 (G1)

Quality Score

999

Status

Not validated

Chromosome

Chromosomal Location

7868832-7929028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7921560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 565 (N565K)

Ref Sequence

ENSEMBL: ENSMUSP00000132117 (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: N520K

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000074454
Gene: ENSMUSG00000024283
AA Change: N520K

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: N462K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000089746
Gene: ENSMUSG00000024283
AA Change: N462K

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: N565K

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132117
Gene: ENSMUSG00000024283
AA Change: N565K

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 benign
Transcript: ENSMUST00000169478
AA Change: N147K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000130467
Gene: ENSMUSG00000024283
AA Change: N147K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171042
AA Change: N413K

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

SMART Domains

Protein: ENSMUSP00000133185
Gene: ENSMUSG00000024283
AA Change: N413K

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

possibly damaging
Transcript: ENSMUST00000171486
AA Change: N414K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127848
Gene: ENSMUSG00000024283
AA Change: N414K

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: N516K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128321
Gene: ENSMUSG00000024283
AA Change: N516K

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: 99.9%
20x: 99.8%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	C	T	8: 41,250,107 (GRCm39)	T739I	probably benign	Het
Adam23	G	T	1: 63,624,586 (GRCm39)	V805F	possibly damaging	Het
Adamts17	A	T	7: 66,499,547 (GRCm39)	R31S	probably damaging	Het
Ahnak2	T	C	12: 112,745,560 (GRCm39)	E629G		Het
Ano4	T	A	10: 89,163,138 (GRCm39)	Y27F	possibly damaging	Het
Bbs2	A	G	8: 94,796,625 (GRCm39)	V675A	probably damaging	Het
Brca2	A	G	5: 150,481,975 (GRCm39)	E2839G	probably damaging	Het
Capn5	C	T	7: 97,773,085 (GRCm39)	V640I	probably benign	Het
Casp4	C	T	9: 5,321,318 (GRCm39)	T23M	probably damaging	Het
Cerk	C	T	15: 86,028,920 (GRCm39)	E379K	possibly damaging	Het
Comp	G	A	8: 70,826,503 (GRCm39)	G26D	probably damaging	Het
Cpxm1	G	A	2: 130,236,982 (GRCm39)	A220V	possibly damaging	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Cyp2c69	G	T	19: 39,831,434 (GRCm39)	P460T	possibly damaging	Het
Ddx23	T	C	15: 98,546,504 (GRCm39)	D555G	probably damaging	Het
Dusp9	AAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAG	AAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAG	X: 72,684,128 (GRCm39)		probably benign	Het
E2f6	T	A	12: 16,869,058 (GRCm39)	I127K	probably damaging	Het
Efr3a	T	A	15: 65,733,589 (GRCm39)	D716E	probably benign	Het
Esp16	T	G	17: 39,850,868 (GRCm39)	S82R	possibly damaging	Het
Fasn	A	C	11: 120,700,061 (GRCm39)	S2199A	probably benign	Het
Fscb	A	G	12: 64,519,337 (GRCm39)	S710P	unknown	Het
Gas7	A	G	11: 67,556,217 (GRCm39)	I185M	probably damaging	Het
Glg1	A	T	8: 111,887,367 (GRCm39)	L1047I	possibly damaging	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gm7876	A	T	14: 4,711,357 (GRCm38)	I124L	possibly damaging	Het
Golga5	A	G	12: 102,450,681 (GRCm39)	N445D	probably benign	Het
Grin2c	A	T	11: 115,147,063 (GRCm39)	H377Q	probably benign	Het
Hmgcs1	T	C	13: 120,161,499 (GRCm39)	I97T	possibly damaging	Het
Ifi211	T	C	1: 173,733,769 (GRCm39)	T131A	possibly damaging	Het
Ifngr1	A	G	10: 19,484,931 (GRCm39)	K310R	probably damaging	Het
Il18rap	T	C	1: 40,587,803 (GRCm39)	V467A	probably damaging	Het
Itgad	C	A	7: 127,782,280 (GRCm39)	Q239K	probably benign	Het
Jrkl	T	C	9: 13,245,506 (GRCm39)	I52V	possibly damaging	Het
Kdm6b	A	T	11: 69,290,778 (GRCm39)	D1630E	unknown	Het
Krt75	C	A	15: 101,473,318 (GRCm39)	*552L	probably null	Het
Mbd2	A	G	18: 70,701,948 (GRCm39)	D154G	probably damaging	Het
Muc4	C	CTAG	16: 32,575,369 (GRCm39)		probably benign	Het
Mutyh	A	T	4: 116,674,153 (GRCm39)	N235Y	probably benign	Het
Myo5b	A	G	18: 74,864,825 (GRCm39)	T1348A	probably benign	Het
Ndufs7	T	C	10: 80,089,619 (GRCm39)		probably null	Het
Nup205	T	G	6: 35,171,511 (GRCm39)	M458R	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or1e32	A	C	11: 73,705,926 (GRCm39)		probably benign	Het
Or1j4	G	T	2: 36,740,285 (GRCm39)	V76F	probably damaging	Het
Or2at1	A	T	7: 99,416,803 (GRCm39)	T145S	probably benign	Het
Or5b119	G	A	19: 13,457,019 (GRCm39)	P181L	probably damaging	Het
Or6b2	T	A	1: 92,407,570 (GRCm39)	M258L	probably benign	Het
Or8b101	A	G	9: 38,020,264 (GRCm39)	N89S	possibly damaging	Het
Or8k25	T	A	2: 86,243,560 (GRCm39)	T279S	probably damaging	Het
Plcl2	T	G	17: 50,913,831 (GRCm39)	I280S	probably benign	Het
Ppargc1a	A	T	5: 51,630,264 (GRCm39)	Y618N	unknown	Het
Rab43	A	T	6: 87,788,348 (GRCm39)	I60N	probably damaging	Het
Rnf126	A	T	10: 79,596,726 (GRCm39)	C231S	probably damaging	Het
Rnf220	T	A	4: 117,164,787 (GRCm39)	E238D	probably damaging	Het
Scn9a	A	T	2: 66,335,193 (GRCm39)	D1265E	probably damaging	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,640,271 (GRCm39)		probably benign	Het
Sntb2	T	A	8: 107,728,269 (GRCm39)	S406T	probably damaging	Het
Sos1	T	C	17: 80,714,267 (GRCm39)	I1068V	probably benign	Het
Spart	A	G	3: 55,035,697 (GRCm39)	K519E	probably damaging	Het
Tlx3	A	T	11: 33,153,058 (GRCm39)	F134L	probably damaging	Het
Trbj1-2	A	T	6: 41,510,964 (GRCm39)	T10S		Het
Txk	A	C	5: 72,892,536 (GRCm39)	L33R	probably damaging	Het
Ulk2	A	G	11: 61,682,258 (GRCm39)		probably null	Het
Usp20	T	C	2: 30,900,556 (GRCm39)	S357P	probably benign	Het
Zfp1007	A	T	5: 109,823,622 (GRCm39)	C609*	probably null	Het
Zfp709	G	T	8: 72,644,684 (GRCm39)	K704N	probably damaging	Het
Zfp788	C	T	7: 41,299,049 (GRCm39)	Q562*	probably null	Het

Other mutations in Wac

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02404:Wac	APN	18	7,917,570 (GRCm39)	missense	probably damaging	1.00
BB007:Wac	UTSW	18	7,921,560 (GRCm39)	missense	possibly damaging	0.47
BB017:Wac	UTSW	18	7,921,560 (GRCm39)	missense	possibly damaging	0.47
R1077:Wac	UTSW	18	7,921,916 (GRCm39)	missense	probably damaging	1.00
R2915:Wac	UTSW	18	7,926,131 (GRCm39)	missense	possibly damaging	0.96
R3196:Wac	UTSW	18	7,917,568 (GRCm39)	missense	probably damaging	1.00
R3793:Wac	UTSW	18	7,920,190 (GRCm39)	missense	possibly damaging	0.86
R3840:Wac	UTSW	18	7,918,535 (GRCm39)	missense	probably damaging	1.00
R3971:Wac	UTSW	18	7,916,175 (GRCm39)	missense	probably damaging	1.00
R6402:Wac	UTSW	18	7,901,585 (GRCm39)	missense	possibly damaging	0.71
R6429:Wac	UTSW	18	7,920,163 (GRCm39)	missense	probably damaging	0.97
R6536:Wac	UTSW	18	7,905,189 (GRCm39)	splice site	probably null
R6615:Wac	UTSW	18	7,868,884 (GRCm39)	splice site	probably null
R6645:Wac	UTSW	18	7,973,523 (GRCm39)	missense	probably damaging	1.00
R7088:Wac	UTSW	18	7,921,455 (GRCm39)	missense	probably damaging	0.99
R7464:Wac	UTSW	18	7,871,746 (GRCm39)	critical splice donor site	probably null
R7760:Wac	UTSW	18	7,921,913 (GRCm39)	missense	probably benign	0.43
R8515:Wac	UTSW	18	7,871,606 (GRCm39)	missense	probably benign	0.01
R8903:Wac	UTSW	18	7,926,104 (GRCm39)	nonsense	probably null
R8965:Wac	UTSW	18	7,905,936 (GRCm39)	missense	probably benign	0.18
R9149:Wac	UTSW	18	7,921,592 (GRCm39)	missense	probably damaging	0.99
X0066:Wac	UTSW	18	7,916,298 (GRCm39)	critical splice donor site	probably null
Z1176:Wac	UTSW	18	7,973,531 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2020-08-07