Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00533:Proser3'

6291

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Proser3

Ensembl Gene

ENSMUSG00000036864

Gene Name

proline and serine rich 3

Synonyms

BC053749

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL00533

Quality Score

Status

Chromosome

Chromosomal Location

30238559-30251724 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30240096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 336 (V336A)

Ref Sequence

ENSEMBL: ENSMUSP00000148912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062708] [ENSMUST00000108165] [ENSMUST00000215288]

AlphaFold

Q7TSA6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062708
AA Change: V336A

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000059135
Gene: ENSMUSG00000036864
AA Change: V336A

Domain	Start	End	E-Value	Type
low complexity region	33	56	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
low complexity region	152	163	N/A	INTRINSIC
low complexity region	179	202	N/A	INTRINSIC
low complexity region	351	365	N/A	INTRINSIC
low complexity region	369	383	N/A	INTRINSIC
low complexity region	388	407	N/A	INTRINSIC
low complexity region	599	614	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108165
AA Change: V336A

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103800
Gene: ENSMUSG00000036864
AA Change: V336A

Domain	Start	End	E-Value	Type
low complexity region	33	56	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
low complexity region	152	163	N/A	INTRINSIC
low complexity region	179	202	N/A	INTRINSIC
low complexity region	351	365	N/A	INTRINSIC
low complexity region	369	383	N/A	INTRINSIC
low complexity region	388	407	N/A	INTRINSIC
low complexity region	599	614	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208842

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215288
AA Change: V336A

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	T	16: 30,958,293 (GRCm39)	L175Q	probably damaging	Het
Akna	A	T	4: 63,316,110 (GRCm39)		probably null	Het
Arhgef38	C	T	3: 132,822,220 (GRCm39)	W181*	probably null	Het
Gm5581	A	T	6: 131,144,604 (GRCm39)		noncoding transcript	Het
Hyls1	G	T	9: 35,473,220 (GRCm39)	Y65*	probably null	Het
Map1b	A	G	13: 99,569,112 (GRCm39)	I1203T	unknown	Het
Met	C	T	6: 17,534,936 (GRCm39)		probably benign	Het
Pcdh15	A	G	10: 74,338,552 (GRCm39)	T1065A	probably damaging	Het
Prpf40a	G	A	2: 53,035,355 (GRCm39)	R729C	probably damaging	Het
Ptprk	A	G	10: 28,461,971 (GRCm39)	E1152G	probably damaging	Het
Scn11a	A	C	9: 119,603,447 (GRCm39)	D1073E	probably damaging	Het
Spsb3	C	T	17: 25,109,539 (GRCm39)		probably benign	Het

Other mutations in Proser3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01346:Proser3	APN	7	30,249,071 (GRCm39)	missense	probably benign	0.21
IGL02465:Proser3	APN	7	30,242,958 (GRCm39)	missense	possibly damaging	0.87
IGL03178:Proser3	APN	7	30,243,034 (GRCm39)	missense	probably damaging	0.99
IGL03372:Proser3	APN	7	30,242,993 (GRCm39)	missense	probably damaging	1.00
K3955:Proser3	UTSW	7	30,242,924 (GRCm39)	missense	probably damaging	0.96
R0008:Proser3	UTSW	7	30,239,563 (GRCm39)	missense	probably damaging	0.99
R0008:Proser3	UTSW	7	30,239,563 (GRCm39)	missense	probably damaging	0.99
R0255:Proser3	UTSW	7	30,245,842 (GRCm39)	missense	probably damaging	1.00
R0627:Proser3	UTSW	7	30,240,208 (GRCm39)	missense	probably benign	0.04
R0702:Proser3	UTSW	7	30,238,955 (GRCm39)	missense	probably benign	0.00
R0883:Proser3	UTSW	7	30,240,124 (GRCm39)	missense	probably damaging	0.99
R1185:Proser3	UTSW	7	30,245,572 (GRCm39)	missense	probably benign	0.01
R1457:Proser3	UTSW	7	30,239,172 (GRCm39)	critical splice donor site	probably null
R1650:Proser3	UTSW	7	30,239,751 (GRCm39)	missense	probably damaging	0.99
R1697:Proser3	UTSW	7	30,239,446 (GRCm39)	missense	probably benign	0.00
R3121:Proser3	UTSW	7	30,239,796 (GRCm39)	missense	probably benign	0.10
R4210:Proser3	UTSW	7	30,245,525 (GRCm39)	intron	probably benign
R4375:Proser3	UTSW	7	30,240,096 (GRCm39)	missense	possibly damaging	0.62
R5364:Proser3	UTSW	7	30,245,573 (GRCm39)	missense	possibly damaging	0.60
R6225:Proser3	UTSW	7	30,243,153 (GRCm39)	missense	probably damaging	1.00
R6831:Proser3	UTSW	7	30,239,781 (GRCm39)	missense	probably benign
R7151:Proser3	UTSW	7	30,239,749 (GRCm39)	missense	possibly damaging	0.79
R7707:Proser3	UTSW	7	30,239,216 (GRCm39)	missense	probably benign	0.27
R7748:Proser3	UTSW	7	30,239,497 (GRCm39)	missense	possibly damaging	0.90
R7923:Proser3	UTSW	7	30,249,086 (GRCm39)	missense	possibly damaging	0.79
R8975:Proser3	UTSW	7	30,239,458 (GRCm39)	missense	possibly damaging	0.95
R9366:Proser3	UTSW	7	30,248,478 (GRCm39)	missense	probably damaging	0.96
R9502:Proser3	UTSW	7	30,245,587 (GRCm39)	missense	possibly damaging	0.55
R9673:Proser3	UTSW	7	30,248,530 (GRCm39)	missense	probably damaging	0.99
X0028:Proser3	UTSW	7	30,240,187 (GRCm39)	missense	probably damaging	0.99
Z31818:Proser3	UTSW	7	30,245,790 (GRCm39)	missense	possibly damaging	0.85

Posted On

2012-04-20