Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02152:Pwwp3a'

282085

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pwwp3a

Ensembl Gene

ENSMUSG00000020156

Gene Name

PWWP domain containing 3A, DNA repair factor

Synonyms

9430059D04Rik, Mum1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02152

Quality Score

Status

Chromosome

Chromosomal Location

80062268-80079737 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80075812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 466 (D466G)

Ref Sequence

ENSEMBL: ENSMUSP00000020365 (fasta)

Gene Model

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

AlphaFold

Q6DID5

Predicted Effect

probably damaging
Transcript: ENSMUST00000020365
AA Change: D466G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020365
Gene: ENSMUSG00000020156
AA Change: D466G

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

noncoding transcript
Transcript: ENSMUST00000126917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135598

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146538

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,695,983 (GRCm39)	T140A	probably benign	Het
4933430I17Rik	T	C	4: 62,460,991 (GRCm39)	Y289H	possibly damaging	Het
Adamts17	T	A	7: 66,774,748 (GRCm39)	S956T	probably benign	Het
Adamts6	A	T	13: 104,450,168 (GRCm39)	S290C	probably null	Het
Apaf1	A	T	10: 90,897,681 (GRCm39)	H267Q	probably benign	Het
Aplp2	G	A	9: 31,122,947 (GRCm39)	P26L	unknown	Het
Arid1b	C	T	17: 5,364,243 (GRCm39)	S1019F	probably damaging	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Ass1	T	C	2: 31,382,336 (GRCm39)	I169T	probably damaging	Het
Ccser1	A	G	6: 61,288,692 (GRCm39)	D285G	possibly damaging	Het
Cenpf	A	G	1: 189,381,209 (GRCm39)	V2737A	probably benign	Het
Chrm5	A	G	2: 112,310,913 (GRCm39)	Y68H	probably damaging	Het
Cops4	A	G	5: 100,681,456 (GRCm39)	T164A	probably benign	Het
Cox4i1	A	G	8: 121,399,604 (GRCm39)	S72G	probably benign	Het
Cpox	A	G	16: 58,494,787 (GRCm39)	T275A	possibly damaging	Het
Cyb5a	T	C	18: 84,891,281 (GRCm39)	I68T	probably benign	Het
Efna5	T	C	17: 62,958,055 (GRCm39)	D67G	probably benign	Het
Enpp3	T	C	10: 24,649,900 (GRCm39)	E842G	probably damaging	Het
Fam210b	A	G	2: 172,193,423 (GRCm39)	K79E	probably benign	Het
Gm4799	T	C	10: 82,790,589 (GRCm39)		noncoding transcript	Het
Gpr146	A	T	5: 139,378,467 (GRCm39)	R90W	probably damaging	Het
H2ac10	A	G	13: 23,718,451 (GRCm39)	H124R	probably benign	Het
Hal	A	G	10: 93,339,404 (GRCm39)	I498V	possibly damaging	Het
Hnrnpm	C	T	17: 33,877,386 (GRCm39)	G365R	probably damaging	Het
Jakmip3	A	G	7: 138,627,217 (GRCm39)	D407G	probably damaging	Het
Kank1	A	G	19: 25,405,536 (GRCm39)	I1185V	possibly damaging	Het
Kcnj16	A	T	11: 110,916,036 (GRCm39)	M233L	probably benign	Het
Klhl5	A	T	5: 65,306,143 (GRCm39)	Q370L	probably damaging	Het
L3hypdh	C	T	12: 72,123,917 (GRCm39)		probably null	Het
Las1l	A	G	X: 94,996,908 (GRCm39)	V130A	probably damaging	Het
Liat1	A	G	11: 75,894,051 (GRCm39)	I143V	probably benign	Het
Lrp2bp	A	T	8: 46,476,081 (GRCm39)	Y274F	probably damaging	Het
Morc2b	T	A	17: 33,356,917 (GRCm39)	K285M	probably damaging	Het
Mpp3	A	T	11: 101,916,216 (GRCm39)	Y45*	probably null	Het
Muc4	T	A	16: 32,598,023 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,353,914 (GRCm39)	C837R	possibly damaging	Het
Nr2f6	T	A	8: 71,828,810 (GRCm39)	I155F	probably damaging	Het
Nsg1	A	G	5: 38,302,145 (GRCm39)	F50L	probably benign	Het
Or14a258	T	A	7: 86,035,251 (GRCm39)	M206L	probably benign	Het
Ostf1	C	A	19: 18,567,822 (GRCm39)	G101C	probably damaging	Het
Pam	C	T	1: 97,768,474 (GRCm39)	R552Q	probably damaging	Het
Pkd1l3	A	G	8: 110,395,924 (GRCm39)	N2108S	probably damaging	Het
Prkdc	A	T	16: 15,487,149 (GRCm39)	H484L	probably benign	Het
Rfx5	G	A	3: 94,864,493 (GRCm39)	R213Q	probably damaging	Het
Ryr1	T	C	7: 28,751,440 (GRCm39)	S3715G	possibly damaging	Het
Sall2	A	G	14: 52,552,971 (GRCm39)	S73P	probably damaging	Het
Sec22c	G	A	9: 121,513,845 (GRCm39)	A264V	probably benign	Het
Sis	A	C	3: 72,796,319 (GRCm39)		probably benign	Het
Spam1	T	A	6: 24,800,802 (GRCm39)		probably benign	Het
Spmip2	T	C	3: 79,252,839 (GRCm39)	I18T	possibly damaging	Het
St13	T	A	15: 81,250,583 (GRCm39)	I318F	probably damaging	Het
Syne1	T	C	10: 5,374,382 (GRCm39)	I142V	probably damaging	Het
Tasor2	C	T	13: 3,635,371 (GRCm39)	E479K	probably benign	Het
Trpm6	A	T	19: 18,809,903 (GRCm39)	T1100S	possibly damaging	Het
Ttll6	G	A	11: 96,026,366 (GRCm39)	W90*	probably null	Het
Txndc12	T	A	4: 108,691,989 (GRCm39)	C9*	probably null	Het
Ubr7	C	T	12: 102,734,535 (GRCm39)	Q270*	probably null	Het
Vps33b	A	G	7: 79,934,817 (GRCm39)	S302G	probably benign	Het
Xylt1	T	A	7: 117,233,997 (GRCm39)	V508E	probably damaging	Het
Zbtb26	A	T	2: 37,326,703 (GRCm39)	L111Q	possibly damaging	Het
Zfp410	T	C	12: 84,379,702 (GRCm39)		probably benign	Het
Zscan18	A	T	7: 12,509,223 (GRCm39)		probably benign	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
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
R0441:Pwwp3a	UTSW	10	80,064,859 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16