Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02548:Psg21'

297908

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psg21

Ensembl Gene

ENSMUSG00000070796

Gene Name

pregnancy-specific glycoprotein 21

Synonyms

1600026N13Rik, 1600019C01Rik, 1600025N01Rik, cea8

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

IGL02548

Quality Score

Status

Chromosome

Chromosomal Location

18646736-18656725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18655036 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 44 (V44I)

Ref Sequence

ENSEMBL: ENSMUSP00000138173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094793] [ENSMUST00000182128]

AlphaFold

Q9DAV5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094793
AA Change: V44I

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000092387
Gene: ENSMUSG00000070796
AA Change: V44I

Domain	Start	End	E-Value	Type
IG	39	138	3.04e-3	SMART
IG	159	260	7.25e-1	SMART
IG	276	375	1.25e-4	SMART
IGc2	393	457	1.47e-10	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182128
AA Change: V44I

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138173
Gene: ENSMUSG00000070796
AA Change: V44I

Domain	Start	End	E-Value	Type
IG	39	138	3.04e-3	SMART
IG	159	260	7.25e-1	SMART
IG	276	375	1.25e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182933

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	G	A	7: 46,005,262	A545V	probably damaging	Het
Adam29	A	T	8: 55,872,867	L184*	probably null	Het
Ap1g1	C	T	8: 109,849,622	A432V	probably damaging	Het
Atrn	C	T	2: 130,972,282	T716I	probably damaging	Het
B020004J07Rik	T	A	4: 101,835,573	Y410F	probably damaging	Het
Bahd1	C	A	2: 118,917,045	Q382K	possibly damaging	Het
Barhl2	A	G	5: 106,455,525	V256A	probably benign	Het
Camta2	A	G	11: 70,670,685	F1113L	probably damaging	Het
Cdh23	G	T	10: 60,650,122	T38K	probably benign	Het
Cmtm3	T	C	8: 104,344,805	L111P	probably damaging	Het
Col27a1	T	C	4: 63,318,255		probably benign	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Flt1	C	A	5: 147,639,248	R650L	probably benign	Het
Fpr1	T	A	17: 17,876,653	E358V	probably benign	Het
Ggnbp2	A	T	11: 84,862,286	N42K	possibly damaging	Het
Gldc	T	C	19: 30,099,899	T958A	probably benign	Het
Gm3573	A	G	14: 42,187,495		probably null	Het
Hspbp1	T	C	7: 4,681,841		probably benign	Het
Jhy	G	T	9: 40,917,175	Y478*	probably null	Het
Kiz	A	G	2: 146,870,770	E118G	probably damaging	Het
Klhdc1	A	G	12: 69,253,718	Y144C	probably benign	Het
Lamc3	A	T	2: 31,920,662	Y848F	probably benign	Het
Mixl1	T	C	1: 180,694,704	E204G	probably benign	Het
Muc2	T	A	7: 141,751,857	C202S	probably damaging	Het
Nfatc1	T	C	18: 80,697,898	S282G	probably damaging	Het
Olfr1465	T	C	19: 13,313,938	M116V	probably damaging	Het
Olfr175-ps1	C	A	16: 58,824,328	C127F	probably benign	Het
Olfr531	T	A	7: 140,400,662	Y128F	probably damaging	Het
Orc2	A	T	1: 58,466,122		probably benign	Het
Pcdhb10	T	C	18: 37,412,690	I273T	probably benign	Het
Pdzph1	G	A	17: 58,973,391	T632I	probably benign	Het
Phf1	A	G	17: 26,935,626	Y225C	probably damaging	Het
Prcp	T	C	7: 92,901,174	F60L	probably damaging	Het
Ptgdr	C	T	14: 44,858,614	V214M	probably damaging	Het
Pth1r	G	A	9: 110,727,680	R181W	probably damaging	Het
Ralgapb	A	G	2: 158,444,665	I343M	probably damaging	Het
Retreg1	C	T	15: 25,895,118	Q128*	probably null	Het
Rrbp1	T	C	2: 143,949,759		probably benign	Het
Skint5	T	A	4: 113,731,076	M726L	unknown	Het
Slc6a18	T	C	13: 73,669,995	Y301C	probably damaging	Het
Slc8a3	G	A	12: 81,204,156		probably benign	Het
Tacr3	C	A	3: 134,829,471	Q67K	probably damaging	Het
Tfrc	A	T	16: 32,624,822	K534*	probably null	Het
Timp3	T	A	10: 86,338,451	M67K	probably benign	Het
Tmem120a	C	T	5: 135,736,774	E179K	probably damaging	Het
Tomm40l	G	A	1: 171,221,647		probably benign	Het
Tubal3	A	G	13: 3,930,554	R89G	probably benign	Het
Wdr35	A	T	12: 9,024,297	N976I	probably benign	Het
Zfp292	T	C	4: 34,805,416	T2543A	probably damaging	Het
Zfp976	T	A	7: 42,612,529	H628L	unknown	Het
Zmynd8	A	G	2: 165,833,405	V301A	probably damaging	Het

Other mutations in Psg21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01571:Psg21	APN	7	18654825	missense	probably damaging	1.00
IGL02390:Psg21	APN	7	18652631	missense	probably benign	0.11
IGL03001:Psg21	APN	7	18652485	missense	probably benign	0.03
IGL03135:Psg21	APN	7	18654918	missense	probably benign	0.00
R0131:Psg21	UTSW	7	18654868	missense	probably benign	0.39
R0551:Psg21	UTSW	7	18652640	critical splice acceptor site	probably null
R1512:Psg21	UTSW	7	18656500	missense	probably benign	0.00
R1874:Psg21	UTSW	7	18650816	missense	probably benign	0.15
R1993:Psg21	UTSW	7	18654770	missense	probably benign	0.04
R2327:Psg21	UTSW	7	18652453	missense	possibly damaging	0.61
R3414:Psg21	UTSW	7	18652380	missense	probably damaging	1.00
R4422:Psg21	UTSW	7	18647332	missense	probably damaging	1.00
R5138:Psg21	UTSW	7	18656528	start codon destroyed	probably null	0.94
R5623:Psg21	UTSW	7	18655014	missense	probably damaging	1.00
R5686:Psg21	UTSW	7	18652258	intron	probably benign
R6166:Psg21	UTSW	7	18656739	unclassified	probably benign
R6177:Psg21	UTSW	7	18652354	missense	possibly damaging	0.64
R6190:Psg21	UTSW	7	18655001	missense	possibly damaging	0.61
R6210:Psg21	UTSW	7	18652345	missense	probably damaging	1.00
R6482:Psg21	UTSW	7	18654739	splice site	probably null
R6729:Psg21	UTSW	7	18652591	missense	probably damaging	1.00
R6866:Psg21	UTSW	7	18652284	missense	probably damaging	1.00
R6992:Psg21	UTSW	7	18654743	critical splice donor site	probably null
R7075:Psg21	UTSW	7	18654861	missense	probably damaging	1.00
R7081:Psg21	UTSW	7	18654849	nonsense	probably null
R7098:Psg21	UTSW	7	18652545	missense	probably damaging	1.00
R7582:Psg21	UTSW	7	18647203	makesense	probably null
R7588:Psg21	UTSW	7	18647209	missense	probably benign	0.00
R7607:Psg21	UTSW	7	18654783	missense	probably benign	0.02
R7830:Psg21	UTSW	7	18647298	missense	probably damaging	1.00
R7964:Psg21	UTSW	7	18647211	missense	probably benign	0.01
R8758:Psg21	UTSW	7	18650753	missense	probably damaging	1.00
R8972:Psg21	UTSW	7	18647368	missense	probably benign	0.03
R8988:Psg21	UTSW	7	18652464	missense	probably benign	0.00
R9119:Psg21	UTSW	7	18647484	missense	probably benign	0.14
R9446:Psg21	UTSW	7	18654940	missense	probably benign	0.00

Posted On

2015-04-16