Mutagenetix > Incidental Mutation

Incidental Mutation 'R0441:Pwwp3a'

39171

Institutional Source

Beutler Lab

Gene Symbol

Pwwp3a

Ensembl Gene

ENSMUSG00000020156

Gene Name

PWWP domain containing 3A, DNA repair factor

Synonyms

9430059D04Rik, Mum1

MMRRC Submission

038642-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0441 (G1)

Quality Score

130

Status

Validated

Chromosome

Chromosomal Location

80062268-80079737 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80064859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 30 (N30Y)

Ref Sequence

ENSEMBL: ENSMUSP00000117519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020365] [ENSMUST00000130260]

AlphaFold

Q6DID5

Predicted Effect

probably damaging
Transcript: ENSMUST00000020365
AA Change: N30Y

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

SMART Domains

Protein: ENSMUSP00000020365
Gene: ENSMUSG00000020156
AA Change: N30Y

Domain	Start	End	E-Value	Type
low complexity region	127	140	N/A	INTRINSIC
low complexity region	157	170	N/A	INTRINSIC
Pfam:PWWP	381	458	2.9e-8	PFAM
low complexity region	671	682	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125784

Predicted Effect

probably damaging
Transcript: ENSMUST00000130260
AA Change: N30Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117519
Gene: ENSMUSG00000020156
AA Change: N30Y

Domain	Start	End	E-Value	Type
low complexity region	127	140	N/A	INTRINSIC
low complexity region	157	170	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139431

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141962

Meta Mutation Damage Score

0.1013

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,092,689 (GRCm39)		probably benign	Het
Adgrv1	G	A	13: 81,545,345 (GRCm39)	R5647*	probably null	Het
Agbl2	C	T	2: 90,627,827 (GRCm39)	R211*	probably null	Het
Akap9	A	G	5: 4,011,714 (GRCm39)	K806E	probably benign	Het
Ampd1	C	G	3: 102,995,794 (GRCm39)	L235V	probably benign	Het
Atcay	T	C	10: 81,060,294 (GRCm39)	D14G	possibly damaging	Het
Atp8b4	C	T	2: 126,220,626 (GRCm39)		probably benign	Het
Bmp8b	T	C	4: 123,018,308 (GRCm39)	V393A	probably damaging	Het
Brca2	T	A	5: 150,465,322 (GRCm39)	D1695E	probably damaging	Het
Cdh15	A	G	8: 123,587,705 (GRCm39)	I210V	probably damaging	Het
Cep250	T	C	2: 155,813,924 (GRCm39)	L564P	possibly damaging	Het
Cmpk1	T	C	4: 114,822,220 (GRCm39)	T110A	probably benign	Het
Cpsf3	T	G	12: 21,350,085 (GRCm39)	I268S	probably damaging	Het
Csmd2	C	T	4: 128,414,023 (GRCm39)	A2621V	probably benign	Het
Cyp2c40	T	C	19: 39,795,607 (GRCm39)		probably benign	Het
D430041D05Rik	T	A	2: 103,998,292 (GRCm39)	Y1837F	probably damaging	Het
Degs2	A	G	12: 108,668,469 (GRCm39)	F10S	probably damaging	Het
Dytn	T	A	1: 63,717,933 (GRCm39)		probably benign	Het
Elfn2	G	C	15: 78,557,795 (GRCm39)	P251A	probably benign	Het
Epg5	T	C	18: 78,066,486 (GRCm39)		probably benign	Het
Evc2	A	G	5: 37,574,811 (GRCm39)	D1022G	probably damaging	Het
Fat3	A	G	9: 15,856,304 (GRCm39)		probably benign	Het
Fbn1	A	T	2: 125,151,675 (GRCm39)		probably null	Het
Gm15217	T	C	14: 46,620,676 (GRCm39)		probably null	Het
Gm17611	A	T	13: 50,130,435 (GRCm39)		noncoding transcript	Het
Gpld1	G	A	13: 25,146,303 (GRCm39)	W182*	probably null	Het
Gsc	T	C	12: 104,439,353 (GRCm39)	I8V	probably damaging	Het
Hck	A	G	2: 152,976,052 (GRCm39)	K197R	probably benign	Het
Kat6b	T	C	14: 21,720,301 (GRCm39)	L1551P	probably damaging	Het
Lrch1	C	T	14: 75,184,985 (GRCm39)	G39D	possibly damaging	Het
Macf1	T	C	4: 123,259,148 (GRCm39)		probably null	Het
Mroh9	A	T	1: 162,888,331 (GRCm39)	V248E	probably damaging	Het
Mrps15	C	A	4: 125,945,210 (GRCm39)		probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ndufa5	T	C	6: 24,522,750 (GRCm39)	T31A	probably benign	Het
Nfyb	A	G	10: 82,586,594 (GRCm39)	V190A	possibly damaging	Het
Nos2	A	G	11: 78,819,409 (GRCm39)	I40M	probably benign	Het
Or2f2	T	C	6: 42,767,108 (GRCm39)	I45T	probably damaging	Het
Or5ar1	A	T	2: 85,671,859 (GRCm39)	I92N	probably damaging	Het
Or8k37	A	T	2: 86,469,674 (GRCm39)	I126K	probably damaging	Het
Otog	T	C	7: 45,955,301 (GRCm39)	S564P	probably damaging	Het
Pak5	C	T	2: 135,958,549 (GRCm39)	A180T	probably benign	Het
Pappa2	T	C	1: 158,590,628 (GRCm39)		probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Plxnc1	T	A	10: 94,632,344 (GRCm39)	N1431I	probably damaging	Het
Prph	A	T	15: 98,955,319 (GRCm39)	I429L	probably damaging	Het
Prrc2a	A	G	17: 35,368,664 (GRCm39)		probably benign	Het
Rad54b	A	T	4: 11,563,394 (GRCm39)	T18S	probably benign	Het
Ranbp2	A	G	10: 58,321,590 (GRCm39)	E2629G	probably benign	Het
Rec114	G	A	9: 58,565,053 (GRCm39)	T201I	probably benign	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
Sec23b	A	G	2: 144,423,917 (GRCm39)	E522G	probably damaging	Het
Sgsm3	G	A	15: 80,893,971 (GRCm39)	R502H	possibly damaging	Het
Sh3pxd2b	C	A	11: 32,373,023 (GRCm39)	A730D	possibly damaging	Het
Spag4	A	G	2: 155,909,899 (GRCm39)	D187G	probably damaging	Het
Srgap2	G	A	1: 131,264,175 (GRCm39)	T465I	probably damaging	Het
St3gal6	G	T	16: 58,293,818 (GRCm39)	A237E	probably damaging	Het
St3gal6	C	A	16: 58,293,816 (GRCm39)	A238S	probably damaging	Het
Tecpr1	C	A	5: 144,132,759 (GRCm39)	R1159L	probably benign	Het
Tmem63b	A	T	17: 45,977,241 (GRCm39)		probably null	Het
Tmtc1	T	A	6: 148,317,256 (GRCm39)	D78V	probably damaging	Het
Tpp2	A	G	1: 44,029,722 (GRCm39)	N68D	possibly damaging	Het
Ttn	C	A	2: 76,770,269 (GRCm39)	A2641S	probably benign	Het
Uimc1	T	C	13: 55,241,032 (GRCm39)	K19E	probably damaging	Het
Utrn	T	A	10: 12,564,038 (GRCm39)	E1274V	probably null	Het
Vmn2r102	A	T	17: 19,914,630 (GRCm39)	I732F	probably damaging	Het
Wrn	A	T	8: 33,758,778 (GRCm39)	M792K	probably benign	Het
Zfp451	A	G	1: 33,816,126 (GRCm39)	I608T	probably damaging	Het

Other mutations in Pwwp3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:Pwwp3a	APN	10	80,070,163 (GRCm39)	critical splice donor site	probably null
IGL02152:Pwwp3a	APN	10	80,075,812 (GRCm39)	missense	probably damaging	1.00
IGL02541:Pwwp3a	APN	10	80,064,273 (GRCm39)	critical splice donor site	probably null
IGL02562:Pwwp3a	APN	10	80,074,729 (GRCm39)	missense	probably damaging	1.00
IGL02609:Pwwp3a	APN	10	80,065,917 (GRCm39)	missense	probably damaging	0.99
R0242:Pwwp3a	UTSW	10	80,070,092 (GRCm39)	missense	probably benign	0.02
R0242:Pwwp3a	UTSW	10	80,070,092 (GRCm39)	missense	probably benign	0.02
R0378:Pwwp3a	UTSW	10	80,074,713 (GRCm39)	splice site	probably null
R0675:Pwwp3a	UTSW	10	80,065,914 (GRCm39)	missense	probably damaging	0.99
R1558:Pwwp3a	UTSW	10	80,068,778 (GRCm39)	missense	probably benign	0.05
R1612:Pwwp3a	UTSW	10	80,068,889 (GRCm39)	unclassified	probably benign
R1873:Pwwp3a	UTSW	10	80,068,442 (GRCm39)	missense	possibly damaging	0.93
R2247:Pwwp3a	UTSW	10	80,076,259 (GRCm39)	missense	probably damaging	1.00
R3905:Pwwp3a	UTSW	10	80,074,150 (GRCm39)	missense	probably damaging	1.00
R3907:Pwwp3a	UTSW	10	80,074,150 (GRCm39)	missense	probably damaging	1.00
R3908:Pwwp3a	UTSW	10	80,074,150 (GRCm39)	missense	probably damaging	1.00
R4468:Pwwp3a	UTSW	10	80,076,570 (GRCm39)	intron	probably benign
R4657:Pwwp3a	UTSW	10	80,068,848 (GRCm39)	missense	probably benign	0.00
R4989:Pwwp3a	UTSW	10	80,068,702 (GRCm39)	missense	probably benign	0.01
R5030:Pwwp3a	UTSW	10	80,076,209 (GRCm39)	intron	probably benign
R5133:Pwwp3a	UTSW	10	80,068,702 (GRCm39)	missense	probably benign	0.01
R5134:Pwwp3a	UTSW	10	80,068,702 (GRCm39)	missense	probably benign	0.01
R5239:Pwwp3a	UTSW	10	80,064,255 (GRCm39)	nonsense	probably null
R6119:Pwwp3a	UTSW	10	80,064,865 (GRCm39)	missense	probably benign	0.25
R6253:Pwwp3a	UTSW	10	80,068,848 (GRCm39)	missense	probably benign	0.00
R6526:Pwwp3a	UTSW	10	80,068,113 (GRCm39)	missense	probably benign	0.18
R7421:Pwwp3a	UTSW	10	80,068,587 (GRCm39)	missense	probably benign	0.38
R8116:Pwwp3a	UTSW	10	80,076,231 (GRCm39)	missense	probably damaging	1.00
R8252:Pwwp3a	UTSW	10	80,077,694 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CCTTCTAGCAAGTCAGAGGAAGTGC -3'
(R):5'- TGCAAGACAACAGAGTCCTGCC -3'

Sequencing Primer
(F):5'- TCCGGTGCCTCAGTTTATAC -3'
(R):5'- CTCTAAGATTCTCAGCGTGGAGAC -3'

Posted On

2013-05-23