Mutagenetix > Incidental Mutation

Incidental Mutation 'R1422:Pwwp4a'

161153

Institutional Source

Beutler Lab

Gene Symbol

Pwwp4a

Ensembl Gene

ENSMUSG00000067771

Gene Name

PWWP domain containing 4A

Synonyms

Gm14685

MMRRC Submission

039478-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R1422 (G1)

Quality Score

181

Status

Validated

Chromosome

Chromosomal Location

72160653-72172868 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 72171261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 218 (G218C)

Ref Sequence

ENSEMBL: ENSMUSP00000137311 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088459] [ENSMUST00000179117] [ENSMUST00000179600]

AlphaFold

Q52KH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000088459
AA Change: G218C

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000085806
Gene: ENSMUSG00000067771
AA Change: G218C

Domain	Start	End	E-Value	Type
PDB:3PMI\|D	377	508	2e-35	PDB
low complexity region	675	688	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000179117
AA Change: G218C

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137311
Gene: ENSMUSG00000067771
AA Change: G218C

Domain	Start	End	E-Value	Type
PDB:3PMI\|D	377	508	2e-35	PDB
low complexity region	675	688	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179600

SMART Domains

Protein: ENSMUSP00000137006
Gene: ENSMUSG00000058328

Domain	Start	End	E-Value	Type
low complexity region	42	53	N/A	INTRINSIC
Pfam:Cor1	76	204	7.4e-24	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 89.6%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,610,333 (GRCm39)	T170A	probably benign	Het
Arhgap5	T	A	12: 52,566,297 (GRCm39)	D1089E	probably damaging	Het
Atrn	T	C	2: 130,799,834 (GRCm39)	Y404H	probably damaging	Het
Becn1	T	C	11: 101,185,952 (GRCm39)	D98G	possibly damaging	Het
Coro2b	A	G	9: 62,336,229 (GRCm39)		probably null	Het
Cpne4	T	C	9: 104,777,484 (GRCm39)	I143T	probably damaging	Het
Cr2	A	G	1: 194,853,433 (GRCm39)	I35T	probably benign	Het
Ctns	T	C	11: 73,076,072 (GRCm39)	Y321C	probably damaging	Het
Cyp4f16	A	T	17: 32,761,973 (GRCm39)	M174L	probably damaging	Het
Dpy19l4	T	C	4: 11,317,168 (GRCm39)	E10G	possibly damaging	Het
Dtx3	T	A	10: 127,027,158 (GRCm39)	I339F	possibly damaging	Het
Fam184a	A	T	10: 53,551,304 (GRCm39)	M625K	probably benign	Het
Fgd6	A	G	10: 93,881,234 (GRCm39)	E696G	probably damaging	Het
Gm17535	A	G	9: 3,035,804 (GRCm39)	Y224C	probably null	Het
Gria1	T	A	11: 57,080,614 (GRCm39)	L199Q	probably benign	Het
Hk1	T	C	10: 62,131,873 (GRCm39)	D184G	probably null	Het
Ift88	T	C	14: 57,675,758 (GRCm39)		probably benign	Het
Ift88	G	A	14: 57,710,436 (GRCm39)	V403M	probably damaging	Het
Igsf1	C	A	X: 48,871,813 (GRCm39)	G737*	probably null	Het
Kif19a	A	G	11: 114,676,635 (GRCm39)	D488G	probably benign	Het
Lpcat2	T	C	8: 93,606,045 (GRCm39)	L232P	probably damaging	Het
Ly9	A	G	1: 171,428,780 (GRCm39)	V280A	probably damaging	Het
Macrod2	T	A	2: 140,261,861 (GRCm39)		probably null	Het
Mmp1a	A	G	9: 7,464,298 (GRCm39)		probably null	Het
Mmrn2	A	G	14: 34,118,196 (GRCm39)	H80R	probably damaging	Het
Or2b4	T	C	17: 38,116,254 (GRCm39)	Y73H	probably damaging	Het
Or51f23	G	A	7: 102,453,057 (GRCm39)	R124H	probably benign	Het
Or5l13	G	A	2: 87,780,439 (GRCm39)	T46I	probably benign	Het
Pkd1l3	C	A	8: 110,348,340 (GRCm39)	P194H	unknown	Het
Plk2	A	G	13: 110,536,023 (GRCm39)	M576V	probably damaging	Het
Pms2	T	A	5: 143,850,523 (GRCm39)	S113T	probably damaging	Het
Ptprk	A	G	10: 28,351,276 (GRCm39)	I590V	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rad17	A	G	13: 100,781,590 (GRCm39)	L69P	probably benign	Het
Rmc1	G	A	18: 12,314,680 (GRCm39)	D87N	probably damaging	Het
Robo2	G	A	16: 73,775,336 (GRCm39)	T466M	probably damaging	Het
Sema6a	A	G	18: 47,439,498 (GRCm39)	C9R	probably benign	Het
Slc6a19	A	G	13: 73,833,988 (GRCm39)	S357P	probably benign	Het
Spata31e2	C	G	1: 26,721,547 (GRCm39)	S1211T	possibly damaging	Het
Spock3	T	C	8: 63,597,023 (GRCm39)	I109T	possibly damaging	Het
Svs6	T	C	2: 164,159,580 (GRCm39)		probably null	Het
Tenm4	A	T	7: 96,199,258 (GRCm39)	D17V	probably damaging	Het
Trp53bp2	T	A	1: 182,274,029 (GRCm39)	M558K	probably benign	Het
Ttn	T	C	2: 76,572,014 (GRCm39)	E26293G	probably damaging	Het
Vmn1r29	A	G	6: 58,284,871 (GRCm39)	Y197C	probably damaging	Het
Wdfy3	A	T	5: 102,032,080 (GRCm39)		probably benign	Het
Zfp366	A	G	13: 99,365,804 (GRCm39)	K322E	probably damaging	Het

Other mutations in Pwwp4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1162:Pwwp4a	UTSW	X	72,171,261 (GRCm39)	missense	probably damaging	0.97
R1178:Pwwp4a	UTSW	X	72,171,261 (GRCm39)	missense	probably damaging	0.97
R1416:Pwwp4a	UTSW	X	72,171,261 (GRCm39)	missense	probably damaging	0.97
R1498:Pwwp4a	UTSW	X	72,171,261 (GRCm39)	missense	probably damaging	0.97
R1520:Pwwp4a	UTSW	X	72,171,261 (GRCm39)	missense	probably damaging	0.97
R1544:Pwwp4a	UTSW	X	72,171,261 (GRCm39)	missense	probably damaging	0.97
R1674:Pwwp4a	UTSW	X	72,171,261 (GRCm39)	missense	probably damaging	0.97
R1774:Pwwp4a	UTSW	X	72,171,261 (GRCm39)	missense	probably damaging	0.97
R1888:Pwwp4a	UTSW	X	72,171,261 (GRCm39)	missense	probably damaging	0.97
R1888:Pwwp4a	UTSW	X	72,171,261 (GRCm39)	missense	probably damaging	0.97
R1984:Pwwp4a	UTSW	X	72,171,261 (GRCm39)	missense	probably damaging	0.97
R1999:Pwwp4a	UTSW	X	72,171,261 (GRCm39)	missense	probably damaging	0.97
R2025:Pwwp4a	UTSW	X	72,171,261 (GRCm39)	missense	probably damaging	0.97
R2026:Pwwp4a	UTSW	X	72,171,261 (GRCm39)	missense	probably damaging	0.97
R2054:Pwwp4a	UTSW	X	72,171,261 (GRCm39)	missense	probably damaging	0.97
R5068:Pwwp4a	UTSW	X	72,171,577 (GRCm39)	missense	probably damaging	0.99
R5069:Pwwp4a	UTSW	X	72,171,577 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGCTCCAAAGGTTCCAAAAGAGCAG -3'
(R):5'- TCTCTAGGCCAGCACACTGAACTC -3'

Sequencing Primer
(F):5'- TTCCAAAAGAGCAGGCCAG -3'
(R):5'- AGCACACTGAACTCGTTTTTTG -3'

Posted On

2014-03-14