Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03258:Pwwp2a'

414737

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pwwp2a

Ensembl Gene

ENSMUSG00000044950

Gene Name

PWWP domain containing 2A

Synonyms

4631424J17Rik, D930040F23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

IGL03258

Quality Score

Status

Chromosome

Chromosomal Location

43572825-43612318 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43595392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 186 (F186I)

Ref Sequence

ENSEMBL: ENSMUSP00000091852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061070] [ENSMUST00000094294] [ENSMUST00000109280]

AlphaFold

Q69Z61

Predicted Effect

probably benign
Transcript: ENSMUST00000061070
AA Change: F186I

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000054154
Gene: ENSMUSG00000044950
AA Change: F186I

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
low complexity region	66	76	N/A	INTRINSIC
low complexity region	84	127	N/A	INTRINSIC
low complexity region	264	275	N/A	INTRINSIC
low complexity region	488	509	N/A	INTRINSIC
low complexity region	548	562	N/A	INTRINSIC
low complexity region	566	576	N/A	INTRINSIC
low complexity region	588	598	N/A	INTRINSIC
Pfam:PWWP	628	714	5.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094294
AA Change: F186I

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000091852
Gene: ENSMUSG00000044950
AA Change: F186I

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
low complexity region	66	76	N/A	INTRINSIC
low complexity region	84	127	N/A	INTRINSIC
low complexity region	264	275	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109280

SMART Domains

Protein: ENSMUSP00000104903
Gene: ENSMUSG00000044950

Domain	Start	End	E-Value	Type
low complexity region	213	234	N/A	INTRINSIC
low complexity region	273	287	N/A	INTRINSIC
low complexity region	291	301	N/A	INTRINSIC
low complexity region	313	323	N/A	INTRINSIC
Pfam:PWWP	353	438	2.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129229

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,931,210 (GRCm39)		probably benign	Het
Adam1b	A	G	5: 121,639,447 (GRCm39)	S533P	possibly damaging	Het
Akr1c6	G	T	13: 4,486,408 (GRCm39)	G72C	probably damaging	Het
Carf	C	T	1: 60,148,388 (GRCm39)	T28I	possibly damaging	Het
Cog1	G	A	11: 113,545,919 (GRCm39)	W398*	probably null	Het
Dmpk	A	G	7: 18,826,131 (GRCm39)		probably null	Het
Dmxl1	T	C	18: 50,053,960 (GRCm39)	V2534A	probably damaging	Het
Fam78b	A	T	1: 166,906,323 (GRCm39)	T161S	probably damaging	Het
Fgd6	A	T	10: 93,969,215 (GRCm39)	T1161S	probably benign	Het
Gpr158	A	T	2: 21,830,085 (GRCm39)	D710V	probably damaging	Het
H2-Q4	A	G	17: 35,599,095 (GRCm39)	I122V	probably benign	Het
Ifi211	A	T	1: 173,733,098 (GRCm39)	C188S	probably benign	Het
Lamc3	A	C	2: 31,777,695 (GRCm39)	S114R	probably damaging	Het
Lrrc57	C	T	2: 120,435,703 (GRCm39)	A239T	probably damaging	Het
Mdga1	A	G	17: 30,058,887 (GRCm39)	Y707H	probably damaging	Het
Ms4a6b	T	G	19: 11,499,072 (GRCm39)	L62R	probably damaging	Het
Mtmr4	A	T	11: 87,502,829 (GRCm39)	H961L	possibly damaging	Het
Myrip	A	G	9: 120,270,418 (GRCm39)	N556S	probably benign	Het
Osgep	T	C	14: 51,155,346 (GRCm39)	T71A	possibly damaging	Het
Plin4	T	C	17: 56,411,371 (GRCm39)	T887A	probably benign	Het
Serpina1b	G	T	12: 103,696,655 (GRCm39)	S251R	probably benign	Het
Setd7	T	C	3: 51,467,936 (GRCm39)		probably null	Het
Slc24a5	G	T	2: 124,922,625 (GRCm39)		probably null	Het
Slc25a17	A	G	15: 81,213,243 (GRCm39)		probably benign	Het
Slc5a4a	T	C	10: 75,986,386 (GRCm39)	V98A	possibly damaging	Het
Susd1	A	T	4: 59,379,655 (GRCm39)	I324N	possibly damaging	Het
Tcaf3	A	G	6: 42,566,773 (GRCm39)	L772P	probably damaging	Het

Other mutations in Pwwp2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02200:Pwwp2a	APN	11	43,596,955 (GRCm39)	missense	possibly damaging	0.46
IGL02227:Pwwp2a	APN	11	43,596,448 (GRCm39)	missense	possibly damaging	0.93
IGL02653:Pwwp2a	APN	11	43,596,862 (GRCm39)	missense	possibly damaging	0.69
R0376:Pwwp2a	UTSW	11	43,595,499 (GRCm39)	missense	probably benign	0.00
R1465:Pwwp2a	UTSW	11	43,596,383 (GRCm39)	missense	possibly damaging	0.95
R1465:Pwwp2a	UTSW	11	43,596,383 (GRCm39)	missense	possibly damaging	0.95
R2127:Pwwp2a	UTSW	11	43,596,145 (GRCm39)	missense	probably benign	0.13
R2128:Pwwp2a	UTSW	11	43,596,145 (GRCm39)	missense	probably benign	0.13
R2173:Pwwp2a	UTSW	11	43,573,313 (GRCm39)	missense	probably benign	0.01
R3077:Pwwp2a	UTSW	11	43,596,212 (GRCm39)	missense	probably damaging	1.00
R3436:Pwwp2a	UTSW	11	43,597,015 (GRCm39)	nonsense	probably null
R3437:Pwwp2a	UTSW	11	43,597,015 (GRCm39)	nonsense	probably null
R4427:Pwwp2a	UTSW	11	43,573,344 (GRCm39)	missense	possibly damaging	0.52
R5597:Pwwp2a	UTSW	11	43,573,422 (GRCm39)	missense	probably benign	0.34
R5672:Pwwp2a	UTSW	11	43,596,968 (GRCm39)	missense	probably damaging	1.00
R6132:Pwwp2a	UTSW	11	43,596,455 (GRCm39)	missense	probably damaging	1.00
R6197:Pwwp2a	UTSW	11	43,595,423 (GRCm39)	missense	probably benign	0.00
R6563:Pwwp2a	UTSW	11	43,596,592 (GRCm39)	missense	possibly damaging	0.88
R6709:Pwwp2a	UTSW	11	43,595,554 (GRCm39)	missense	probably damaging	1.00
R7049:Pwwp2a	UTSW	11	43,597,018 (GRCm39)	missense	probably damaging	0.99
R7305:Pwwp2a	UTSW	11	43,607,878 (GRCm39)	missense	probably damaging	0.98
R7351:Pwwp2a	UTSW	11	43,573,107 (GRCm39)	missense	probably benign	0.12
R7767:Pwwp2a	UTSW	11	43,596,696 (GRCm39)	missense	probably damaging	1.00
R8921:Pwwp2a	UTSW	11	43,596,344 (GRCm39)	missense	probably damaging	0.96
R9144:Pwwp2a	UTSW	11	43,596,721 (GRCm39)	missense	probably benign	0.06

Posted On

2016-08-02