Mutagenetix > Incidental Mutation

Incidental Mutation 'R3853:Pwwp3b'

276041

Institutional Source

Beutler Lab

Gene Symbol

Pwwp3b

Ensembl Gene

ENSMUSG00000042515

Gene Name

PWWP domain containing 3B

Synonyms

Mum1l1, 9430086K21Rik

MMRRC Submission

040900-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R3853 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

138110791-138139084 bp(+) (GRCm39)

Type of Mutation

splice site (1613 bp from exon)

DNA Base Change (assembly)

C to T at 138137403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129943 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113041] [ENSMUST00000113042] [ENSMUST00000113043] [ENSMUST00000113045] [ENSMUST00000166444] [ENSMUST00000169886] [ENSMUST00000170671]

AlphaFold

Q4VA55

Predicted Effect

probably benign
Transcript: ENSMUST00000113041
AA Change: A647V

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108664
Gene: ENSMUSG00000042515
AA Change: A647V

Domain	Start	End	E-Value	Type
low complexity region	195	205	N/A	INTRINSIC
low complexity region	320	334	N/A	INTRINSIC
low complexity region	341	363	N/A	INTRINSIC
SCOP:d1khca_	371	404	3e-3	SMART
PDB:3PMI\|D	371	502	7e-58	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000113042
AA Change: A647V

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108665
Gene: ENSMUSG00000042515
AA Change: A647V

Domain	Start	End	E-Value	Type
low complexity region	195	205	N/A	INTRINSIC
low complexity region	320	334	N/A	INTRINSIC
low complexity region	341	363	N/A	INTRINSIC
SCOP:d1khca_	371	404	3e-3	SMART
PDB:3PMI\|D	371	502	7e-58	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000113043
AA Change: A647V

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108666
Gene: ENSMUSG00000042515
AA Change: A647V

Domain	Start	End	E-Value	Type
low complexity region	195	205	N/A	INTRINSIC
low complexity region	320	334	N/A	INTRINSIC
low complexity region	341	363	N/A	INTRINSIC
SCOP:d1khca_	371	404	3e-3	SMART
PDB:3PMI\|D	371	502	7e-58	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000113045
AA Change: A647V

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108668
Gene: ENSMUSG00000042515
AA Change: A647V

Domain	Start	End	E-Value	Type
low complexity region	195	205	N/A	INTRINSIC
low complexity region	320	334	N/A	INTRINSIC
low complexity region	341	363	N/A	INTRINSIC
SCOP:d1khca_	371	404	3e-3	SMART
PDB:3PMI\|D	371	502	7e-58	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126339

Predicted Effect

probably null
Transcript: ENSMUST00000166444

Predicted Effect

probably null
Transcript: ENSMUST00000169886

Predicted Effect

probably null
Transcript: ENSMUST00000170671

Meta Mutation Damage Score

0.1813

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.2%
20x: 94.4%

Validation Efficiency

96% (47/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a mutated melanoma-associated antigen 1 domain. Proteins which contain mutated antigens are expressed at high levels on certain types of cancers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,055,976 (GRCm39)	H316L	probably damaging	Het
Cadps	A	G	14: 12,509,090 (GRCm38)		probably benign	Het
Cluh	A	G	11: 74,547,279 (GRCm39)	D44G	probably benign	Het
Copb1	A	G	7: 113,822,551 (GRCm39)	V726A	probably damaging	Het
Dsg4	T	C	18: 20,582,291 (GRCm39)	V79A	probably benign	Het
Exo1	A	T	1: 175,720,554 (GRCm39)	I291F	probably benign	Het
Eya4	C	T	10: 22,992,574 (GRCm39)	A460T	probably damaging	Het
Gjd3	G	T	11: 102,690,952 (GRCm39)	D350E	probably benign	Het
Hcar2	T	C	5: 124,002,475 (GRCm39)	M343V	probably benign	Het
Ifna15	T	C	4: 88,476,046 (GRCm39)	Y146C	probably damaging	Het
Lce3e	C	T	3: 92,875,139 (GRCm39)	Q32*	probably null	Het
Llgl1	T	C	11: 60,598,075 (GRCm39)	L373P	probably damaging	Het
Mark2	A	G	19: 7,254,655 (GRCm39)	C642R	probably damaging	Het
Mbd3l2	A	G	9: 18,356,092 (GRCm39)	Q139R	probably benign	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Nynrin	T	A	14: 56,101,562 (GRCm39)	N410K	probably benign	Het
Or10g7	A	T	9: 39,905,450 (GRCm39)	T115S	probably damaging	Het
Or4a71	A	T	2: 89,357,917 (GRCm39)	M279K	possibly damaging	Het
Or5b112	A	G	19: 13,319,862 (GRCm39)	T247A	possibly damaging	Het
Or7a38	T	A	10: 78,752,781 (GRCm39)	Y36N	probably damaging	Het
Or8b1	G	T	9: 38,400,247 (GRCm39)	R307S	probably benign	Het
Padi3	T	C	4: 140,518,580 (GRCm39)		probably benign	Het
Prkce	A	G	17: 86,476,277 (GRCm39)	D86G	probably damaging	Het
Rad21	T	G	15: 51,835,712 (GRCm39)	I234L	probably benign	Het
Scn4a	A	T	11: 106,210,932 (GRCm39)	M1695K	possibly damaging	Het
Sdccag8	T	C	1: 176,681,361 (GRCm39)	S325P	probably damaging	Het
Sebox	G	A	11: 78,394,975 (GRCm39)	G106R	probably benign	Het
Serpinb9	A	G	13: 33,199,503 (GRCm39)	E266G	possibly damaging	Het
Shoc1	T	C	4: 59,047,390 (GRCm39)	N1410D	possibly damaging	Het
Snx14	T	C	9: 88,289,372 (GRCm39)		probably benign	Het
Tmc6	A	T	11: 117,663,884 (GRCm39)	L474*	probably null	Het
Tmem132c	T	C	5: 127,436,933 (GRCm39)	Y141H	probably benign	Het
Trap1	G	A	16: 3,872,686 (GRCm39)	R328C	possibly damaging	Het
Trim36	C	A	18: 46,305,439 (GRCm39)		probably benign	Het
Trmt2a	A	T	16: 18,069,055 (GRCm39)	Y299F	possibly damaging	Het
Trrap	A	G	5: 144,728,975 (GRCm39)	K630E	probably damaging	Het
Tsnaxip1	A	T	8: 106,567,333 (GRCm39)		probably benign	Het
Ttc6	G	T	12: 57,775,335 (GRCm39)	C1677F	possibly damaging	Het
Ugt2a3	A	T	5: 87,485,018 (GRCm39)	V2D		Het
Usp9x	A	G	X: 12,964,822 (GRCm39)	D77G	probably benign	Het
Wfs1	C	A	5: 37,125,968 (GRCm39)	V308L	probably benign	Het
Zan	A	C	5: 137,472,326 (GRCm39)	L140R	probably damaging	Het
Zc3h3	A	T	15: 75,709,346 (GRCm39)	S508T	probably benign	Het
Zswim3	A	G	2: 164,662,777 (GRCm39)	Y419C	possibly damaging	Het

Other mutations in Pwwp3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Pwwp3b	APN	X	138,136,443 (GRCm39)	missense	probably damaging	1.00
IGL02866:Pwwp3b	APN	X	138,135,753 (GRCm39)	missense	probably benign	0.25
R0883:Pwwp3b	UTSW	X	138,136,444 (GRCm39)	missense	probably damaging	1.00
R2860:Pwwp3b	UTSW	X	138,137,429 (GRCm39)	missense	possibly damaging	0.78
R2861:Pwwp3b	UTSW	X	138,137,429 (GRCm39)	missense	possibly damaging	0.78
R2862:Pwwp3b	UTSW	X	138,137,429 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- ACACCCTGTATTGAAACCTACTTTG -3'
(R):5'- CGGCAAATACTTAGGCATTGGG -3'

Sequencing Primer
(F):5'- CTTTGAAGATGAAGATCAACTGGATG -3'
(R):5'- ACTTAGGCATTGGGACTTTTAGAAG -3'

Posted On

2015-04-06