Mutagenetix > Incidental Mutation

Incidental Mutation 'R1984:Pwwp4a'

220393

Institutional Source

Beutler Lab

Gene Symbol

Pwwp4a

Ensembl Gene

ENSMUSG00000067771

Gene Name

PWWP domain containing 4A

Synonyms

Gm14685

MMRRC Submission

039996-MU

Accession Numbers

Essential gene?

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

Stock #

R1984 (G1)

Quality Score

209

Status

Not 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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,324,778 (GRCm39)	L81H	probably damaging	Het
Abca8b	A	G	11: 109,868,667 (GRCm39)	C166R	probably damaging	Het
Adgrv1	T	A	13: 81,671,868 (GRCm39)	E2242D	probably damaging	Het
Agap1	T	C	1: 89,694,045 (GRCm39)	S448P	probably benign	Het
Aldh1a2	T	C	9: 71,160,334 (GRCm39)	L120P	probably damaging	Het
Alkbh2	T	C	5: 114,262,115 (GRCm39)	N205S	probably benign	Het
Anapc1	C	A	2: 128,511,608 (GRCm39)	G493C	possibly damaging	Het
Aox3	A	T	1: 58,192,220 (GRCm39)	I497F	possibly damaging	Het
Atp2b1	T	C	10: 98,850,354 (GRCm39)	S826P	possibly damaging	Het
Atp8b4	T	A	2: 126,164,928 (GRCm39)	R1129S	probably damaging	Het
Bche	T	A	3: 73,609,159 (GRCm39)	Q89L	probably benign	Het
Bche	G	T	3: 73,609,160 (GRCm39)	Q89K	probably benign	Het
Bcl9	T	C	3: 97,121,050 (GRCm39)	K171E	probably damaging	Het
Cacna1b	A	T	2: 24,538,998 (GRCm39)	Y1488N	probably damaging	Het
Dock8	A	G	19: 25,098,545 (GRCm39)	N623S	probably null	Het
Dok6	T	C	18: 89,578,234 (GRCm39)	E61G	probably damaging	Het
Duxf4	T	A	10: 58,071,785 (GRCm39)	Q143L	possibly damaging	Het
Esf1	A	T	2: 139,990,806 (GRCm39)	D559E	possibly damaging	Het
F11r	A	G	1: 171,289,438 (GRCm39)	I254V	probably benign	Het
Fkrp	A	G	7: 16,545,802 (GRCm39)	V20A	probably benign	Het
Fscb	T	C	12: 64,521,457 (GRCm39)	E3G	unknown	Het
Hdlbp	A	G	1: 93,358,840 (GRCm39)	I237T	probably damaging	Het
Hfm1	A	T	5: 107,046,442 (GRCm39)	D481E	probably damaging	Het
Hspa4l	T	C	3: 40,714,833 (GRCm39)	V156A	probably damaging	Het
Igfn1	A	G	1: 135,889,782 (GRCm39)	S2422P	probably benign	Het
Il23r	T	A	6: 67,467,652 (GRCm39)		probably null	Het
Il24	G	A	1: 130,810,268 (GRCm39)	T196I	probably benign	Het
Isg15	T	C	4: 156,284,250 (GRCm39)	I93V	probably benign	Het
Kcna6	T	C	6: 126,715,473 (GRCm39)	E472G	probably benign	Het
Kif21b	G	A	1: 136,075,284 (GRCm39)	D166N	probably damaging	Het
Lilrb4b	A	T	10: 51,357,831 (GRCm39)	Q80L	possibly damaging	Het
Lrrc69	T	C	4: 14,708,669 (GRCm39)	E225G	possibly damaging	Het
Marchf6	A	T	15: 31,469,792 (GRCm39)	L726Q	probably damaging	Het
Megf6	G	T	4: 154,352,124 (GRCm39)	G1210C	probably damaging	Het
Msh2	C	T	17: 88,026,724 (GRCm39)	T740I	probably damaging	Het
Myh14	T	C	7: 44,288,446 (GRCm39)	Y514C	probably damaging	Het
Myorg	C	A	4: 41,497,501 (GRCm39)	A710S	possibly damaging	Het
Nedd1	T	C	10: 92,550,022 (GRCm39)	T88A	possibly damaging	Het
Nfkb1	G	A	3: 135,321,110 (GRCm39)	T215I	possibly damaging	Het
Obox1	A	T	7: 15,289,135 (GRCm39)	I17L	probably benign	Het
Or11g24	A	T	14: 50,662,848 (GRCm39)	I291L	possibly damaging	Het
Palb2	A	C	7: 121,726,303 (GRCm39)	H522Q	probably damaging	Het
Pde4c	C	T	8: 71,177,191 (GRCm39)	T6M	probably damaging	Het
Plekhg1	A	G	10: 3,908,181 (GRCm39)	K97E	probably damaging	Het
Plod3	A	G	5: 137,019,707 (GRCm39)		probably null	Het
Plppr3	A	T	10: 79,703,294 (GRCm39)	Y63*	probably null	Het
Qrich1	T	C	9: 108,411,246 (GRCm39)	V257A	probably damaging	Het
Rpl14	A	G	9: 120,401,253 (GRCm39)	D32G	possibly damaging	Het
Senp8	A	G	9: 59,644,721 (GRCm39)	V132A	possibly damaging	Het
Serac1	A	G	17: 6,095,964 (GRCm39)		probably null	Het
Sh2d3c	T	A	2: 32,639,256 (GRCm39)	C295*	probably null	Het
Stab1	A	G	14: 30,872,605 (GRCm39)	F1142L	probably benign	Het
Stam2	T	C	2: 52,599,638 (GRCm39)	T257A	possibly damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tg	A	G	15: 66,554,691 (GRCm39)	E702G	probably benign	Het
Tgif2lx2	A	T	X: 117,337,690 (GRCm39)	K218*	probably null	Het
Tpp1	C	A	7: 105,400,905 (GRCm39)	V41L	probably benign	Het
Tulp3	A	T	6: 128,303,769 (GRCm39)	S277T	probably benign	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp683	T	C	4: 133,784,766 (GRCm39)	F338L	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
R1422: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
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'- GGCTCCAAAGGTTCCAAAAGAG -3'
(R):5'- ATCTCTAGGCCAGCACACTG -3'

Sequencing Primer
(F):5'- AGCTCCAGCCTAGGTCAG -3'
(R):5'- GAGCTTTGGGTGAGATAGAG -3'

Posted On

2014-08-25