Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01599:Psg20'

92021

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psg20

Ensembl Gene

ENSMUSG00000063305

Gene Name

pregnancy-specific glycoprotein 20

Synonyms

cea7, EG434540

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

IGL01599

Quality Score

Status

Chromosome

Chromosomal Location

18674107-18686185 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18681038 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 311 (V311M)

Ref Sequence

ENSEMBL: ENSMUSP00000075973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076677] [ENSMUST00000108482]

AlphaFold

E9Q9B4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076677
AA Change: V311M

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075973
Gene: ENSMUSG00000063305
AA Change: V311M

Domain	Start	End	E-Value	Type
IG	40	141	2.34e-4	SMART
IG	160	261	2.14e0	SMART
IG	280	381	8.01e-3	SMART
IGc2	397	461	1.47e-10	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108482
AA Change: V308M

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104122
Gene: ENSMUSG00000063305
AA Change: V308M

Domain	Start	End	E-Value	Type
IG	40	141	2.34e-4	SMART
IG	160	261	2.14e0	SMART
IG	277	378	8.01e-3	SMART
IGc2	394	458	1.47e-10	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,214,134	V105A	probably benign	Het
Acr	T	C	15: 89,568,414	V18A	probably benign	Het
Adgra2	G	A	8: 27,118,733	A540T	possibly damaging	Het
Aldh16a1	A	G	7: 45,142,093	F753L	probably damaging	Het
Ankfy1	T	A	11: 72,738,365	Y338N	probably benign	Het
Aox3	C	T	1: 58,169,794	R829C	probably damaging	Het
Arhgef11	T	C	3: 87,737,046	S1535P	probably benign	Het
C4b	A	G	17: 34,743,019		probably benign	Het
Ccdc157	A	G	11: 4,148,781	C242R	probably damaging	Het
Cep135	T	A	5: 76,593,347	M90K	possibly damaging	Het
Cfap36	A	T	11: 29,244,057		probably null	Het
Chl1	A	G	6: 103,708,484	T829A	probably benign	Het
Copb2	T	C	9: 98,581,150	S473P	probably damaging	Het
Cpb1	C	T	3: 20,251,954		probably null	Het
Cpsf1	A	G	15: 76,596,541	L1295P	probably damaging	Het
Dmp1	C	T	5: 104,212,462	Q335*	probably null	Het
Dyrk1a	T	A	16: 94,691,884	S621T	possibly damaging	Het
Exoc5	T	A	14: 49,034,964	Q331L	probably benign	Het
Fmnl1	G	A	11: 103,186,656	V287M	probably damaging	Het
Fras1	T	C	5: 96,709,891	S2015P	possibly damaging	Het
Gm7052	T	C	17: 22,040,004		probably benign	Het
Gprc5c	A	G	11: 114,864,252	I252V	probably benign	Het
Ints3	C	T	3: 90,394,322		probably null	Het
L1td1	A	G	4: 98,737,344	D592G	probably damaging	Het
Lamb3	A	G	1: 193,343,412	M1137V	probably benign	Het
Leng8	C	A	7: 4,145,482	A751E	probably benign	Het
Lfng	T	C	5: 140,612,535	V204A	probably damaging	Het
Lsm14b	A	G	2: 180,032,603	D233G	probably damaging	Het
Map4	C	T	9: 110,034,768	P354S	probably benign	Het
Mapt	G	A	11: 104,294,915	V53M	probably damaging	Het
Mier1	T	G	4: 103,155,541	S377A	possibly damaging	Het
Neurog1	T	C	13: 56,251,847	D29G	probably damaging	Het
Npr3	G	A	15: 11,895,789	A257V	probably damaging	Het
Nup188	T	C	2: 30,327,525	V824A	possibly damaging	Het
Olfm4	T	C	14: 80,021,310	S333P	probably damaging	Het
Olfr460	A	C	6: 40,572,252	I289L	probably damaging	Het
Olfr849	T	G	9: 19,441,815	F301V	probably benign	Het
Pbxip1	C	A	3: 89,443,590		probably benign	Het
Pde9a	G	T	17: 31,414,150	C38F	probably damaging	Het
Plb1	A	T	5: 32,342,544		probably benign	Het
Plcz1	T	C	6: 140,002,256		probably benign	Het
Plxnb1	T	C	9: 109,110,604	V1447A	probably damaging	Het
Pnldc1	A	T	17: 12,906,528	M73K	probably benign	Het
Psmd2	G	T	16: 20,659,405		probably null	Het
Rabgap1	T	C	2: 37,556,269	V859A	probably damaging	Het
Rad51b	T	A	12: 79,327,228	S194T	probably benign	Het
Rb1cc1	C	T	1: 6,248,771	Q788*	probably null	Het
Ror2	C	T	13: 53,111,617	G468R	probably damaging	Het
Slamf7	A	G	1: 171,641,186	I46T	possibly damaging	Het
Stab2	A	G	10: 86,922,895	S1060P	probably damaging	Het
Syndig1	T	A	2: 150,003,283	V242E	probably damaging	Het
Tgfbr3	G	A	5: 107,118,451	T801M	probably damaging	Het
Tmem132c	T	C	5: 127,359,552		probably benign	Het
Trav21-dv12	T	C	14: 53,876,731	Y103H	probably damaging	Het
Ubr3	T	C	2: 69,938,178	V443A	probably damaging	Het
Uhrf2	G	T	19: 30,092,120	C749F	probably damaging	Het
Ulk2	G	T	11: 61,791,436	S751*	probably null	Het
Wrn	G	A	8: 33,241,011	P1098S	possibly damaging	Het
Xrcc5	T	C	1: 72,346,349	V533A	possibly damaging	Het
Zc3h13	T	C	14: 75,309,723	S223P	probably damaging	Het
Zcchc11	T	C	4: 108,513,399	S871P	possibly damaging	Het

Other mutations in Psg20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Psg20	APN	7	18674611	missense	possibly damaging	0.72
IGL01459:Psg20	APN	7	18682713	missense	probably damaging	1.00
IGL01678:Psg20	APN	7	18680870	missense	probably damaging	1.00
IGL01991:Psg20	APN	7	18684425	missense	probably benign	0.01
IGL02449:Psg20	APN	7	18684408	splice site	probably benign
IGL02522:Psg20	APN	7	18682431	missense	probably benign	0.06
IGL03358:Psg20	APN	7	18680966	missense	probably benign	0.04
PIT4431001:Psg20	UTSW	7	18674550	missense	probably damaging	1.00
R0136:Psg20	UTSW	7	18682507	missense	probably damaging	0.98
R0184:Psg20	UTSW	7	18685976	missense	probably null	0.95
R0894:Psg20	UTSW	7	18681044	nonsense	probably null
R1291:Psg20	UTSW	7	18684674	missense	possibly damaging	0.46
R1997:Psg20	UTSW	7	18682610	missense	probably benign	0.00
R2118:Psg20	UTSW	7	18681022	missense	probably benign	0.19
R2119:Psg20	UTSW	7	18681022	missense	probably benign	0.19
R2120:Psg20	UTSW	7	18681022	missense	probably benign	0.19
R2121:Psg20	UTSW	7	18681022	missense	probably benign	0.19
R2124:Psg20	UTSW	7	18681022	missense	probably benign	0.19
R2127:Psg20	UTSW	7	18682718	missense	probably damaging	0.99
R3795:Psg20	UTSW	7	18684449	missense	probably benign	0.09
R4115:Psg20	UTSW	7	18685980	missense	probably damaging	1.00
R4238:Psg20	UTSW	7	18684509	missense	probably damaging	1.00
R5004:Psg20	UTSW	7	18680912	missense	probably damaging	1.00
R5025:Psg20	UTSW	7	18674366	makesense	probably null
R6294:Psg20	UTSW	7	18682679	missense	probably damaging	1.00
R6733:Psg20	UTSW	7	18674622	missense	probably damaging	0.99
R6744:Psg20	UTSW	7	18674580	missense	probably damaging	1.00
R6799:Psg20	UTSW	7	18684420	missense	probably benign	0.06
R7466:Psg20	UTSW	7	18684467	missense	probably benign	0.00
R7524:Psg20	UTSW	7	18684659	missense	probably benign	0.18
R7583:Psg20	UTSW	7	18682483	missense	probably damaging	1.00
R7941:Psg20	UTSW	7	18681177	critical splice acceptor site	probably null
R8010:Psg20	UTSW	7	18681067	missense	probably benign	0.06
R8247:Psg20	UTSW	7	18682637	missense	probably benign	0.01
R8762:Psg20	UTSW	7	18674632	missense	probably benign
R8804:Psg20	UTSW	7	18682659	missense	possibly damaging	0.90
R9138:Psg20	UTSW	7	18684670	missense
R9279:Psg20	UTSW	7	18682745	missense	probably benign	0.06
R9683:Psg20	UTSW	7	18682583	nonsense	probably null

Posted On

2013-12-09