Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03372:Proser3'

420354

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: 0.056) question?

Stock #

IGL03372

Quality Score

Status

Chromosome

Chromosomal Location

30238559-30251724 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 30242993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 195 (S195A)

Ref Sequence

ENSEMBL: ENSMUSP00000148912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062708] [ENSMUST00000108165] [ENSMUST00000153594] [ENSMUST00000215288]

AlphaFold

Q7TSA6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062708
AA Change: S195A

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059135
Gene: ENSMUSG00000036864
AA Change: S195A

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: S195A

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103800
Gene: ENSMUSG00000036864
AA Change: S195A

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

probably benign
Transcript: ENSMUST00000153594

SMART Domains

Protein: ENSMUSP00000123095
Gene: ENSMUSG00000036864

Domain	Start	End	E-Value	Type
low complexity region	33	56	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208842

Predicted Effect

probably damaging
Transcript: ENSMUST00000215288
AA Change: S195A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	T	4: 129,911,362 (GRCm39)	A1161V	probably benign	Het
Alpi	A	G	1: 87,028,350 (GRCm39)		probably benign	Het
Asxl1	A	T	2: 153,242,333 (GRCm39)	N961I	probably damaging	Het
Bcl2l10	A	G	9: 75,255,329 (GRCm39)	I49V	probably benign	Het
Bod1l	T	C	5: 41,962,578 (GRCm39)		probably benign	Het
Ccl20	A	G	1: 83,095,597 (GRCm39)	M54V	probably benign	Het
Cep72	A	C	13: 74,191,637 (GRCm39)	L200V	possibly damaging	Het
Clic4	T	C	4: 134,945,925 (GRCm39)	D164G	probably damaging	Het
Col5a3	G	A	9: 20,686,624 (GRCm39)	P1334S	unknown	Het
Dab2	T	C	15: 6,459,030 (GRCm39)	L293P	probably damaging	Het
Ddx50	A	T	10: 62,479,109 (GRCm39)	S140T	probably benign	Het
Dnah6	A	T	6: 73,052,833 (GRCm39)	M2897K	probably benign	Het
Dnmt3a	A	G	12: 3,952,666 (GRCm39)	E721G	probably damaging	Het
Esyt3	A	T	9: 99,218,109 (GRCm39)		probably benign	Het
Fat4	G	T	3: 38,943,283 (GRCm39)	K725N	possibly damaging	Het
Fezf1	T	C	6: 23,246,909 (GRCm39)	I308V	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gapdhs	T	C	7: 30,432,674 (GRCm39)		probably benign	Het
Gm10109	A	T	7: 43,871,126 (GRCm39)		probably benign	Het
Gpd2	G	A	2: 57,245,519 (GRCm39)	V405I	probably damaging	Het
Gtf2e1	T	C	16: 37,356,077 (GRCm39)		probably benign	Het
Iqca1	A	G	1: 90,072,691 (GRCm39)	I63T	possibly damaging	Het
Kcmf1	A	C	6: 72,826,546 (GRCm39)	L161R	probably damaging	Het
Kif19a	G	T	11: 114,670,044 (GRCm39)	V80L	probably damaging	Het
Kif21a	A	T	15: 90,840,579 (GRCm39)	M1179K	probably benign	Het
Krtap19-2	A	G	16: 88,670,774 (GRCm39)		probably benign	Het
Ksr2	T	A	5: 117,840,783 (GRCm39)	I575N	possibly damaging	Het
L3mbtl1	A	T	2: 162,813,077 (GRCm39)		probably benign	Het
Larp1b	A	T	3: 40,978,962 (GRCm39)	H6L	possibly damaging	Het
Map4k2	T	A	19: 6,392,279 (GRCm39)		probably benign	Het
Mdh1b	T	C	1: 63,759,154 (GRCm39)	H146R	possibly damaging	Het
Morc2a	T	C	11: 3,631,813 (GRCm39)		probably benign	Het
Mvd	A	G	8: 123,170,113 (GRCm39)		probably benign	Het
Myo7b	C	T	18: 32,131,654 (GRCm39)	S514N	probably damaging	Het
Nav1	A	T	1: 135,378,641 (GRCm39)	I1610K	probably damaging	Het
Nbas	T	C	12: 13,584,473 (GRCm39)	L2095P	probably damaging	Het
Nrros	T	C	16: 31,963,588 (GRCm39)	N115S	probably damaging	Het
Or5p52	T	C	7: 107,502,577 (GRCm39)	Y218H	probably damaging	Het
Otud6b	A	C	4: 14,812,519 (GRCm39)	I276R	possibly damaging	Het
P2rx6	G	A	16: 17,385,356 (GRCm39)	E150K	probably damaging	Het
Pan2	T	A	10: 128,150,996 (GRCm39)	L771Q	probably benign	Het
Pbrm1	T	A	14: 30,806,976 (GRCm39)	N1087K	probably benign	Het
Pcdhb5	G	T	18: 37,453,713 (GRCm39)	R31L	probably benign	Het
Rad50	T	C	11: 53,586,121 (GRCm39)	K292E	probably benign	Het
Rbm27	G	A	18: 42,438,781 (GRCm39)	R394H	probably damaging	Het
Samd9l	A	G	6: 3,375,314 (GRCm39)	I649T	probably damaging	Het
Skint3	G	A	4: 112,113,103 (GRCm39)		probably benign	Het
Slc4a4	T	A	5: 89,304,285 (GRCm39)	L576Q	probably damaging	Het
Snx2	A	G	18: 53,349,463 (GRCm39)	D408G	probably damaging	Het
Taar2	T	C	10: 23,817,069 (GRCm39)	V203A	probably benign	Het
Tdrd6	C	T	17: 43,936,459 (GRCm39)	V1530M	probably damaging	Het
Tsc2	A	C	17: 24,838,444 (GRCm39)	L515R	probably damaging	Het
Unc13a	A	T	8: 72,108,353 (GRCm39)	M500K	probably damaging	Het
Vmn1r75	A	G	7: 11,614,496 (GRCm39)	D76G	probably benign	Het
Whrn	T	C	4: 63,336,855 (GRCm39)	D127G	probably damaging	Het

Other mutations in Proser3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00533:Proser3	APN	7	30,240,096 (GRCm39)	missense	possibly damaging	0.62
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
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

2016-08-02