Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01571:Psg21'

93282

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

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL01571

Quality Score

Status

Chromosome

Chromosomal Location

18646736-18656725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18654825 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 114 (D114G)

Ref Sequence

ENSEMBL: ENSMUSP00000138173 (fasta)

Gene Model

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

AlphaFold

Q9DAV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000094793
AA Change: D114G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092387
Gene: ENSMUSG00000070796
AA Change: D114G

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

probably damaging
Transcript: ENSMUST00000182128
AA Change: D114G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138173
Gene: ENSMUSG00000070796
AA Change: D114G

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	A	9: 21,539,081		probably benign	Het
Cep164	T	C	9: 45,794,338	Q127R	possibly damaging	Het
Ces1f	T	A	8: 93,258,368	M444L	probably benign	Het
Chd5	T	A	4: 152,384,115		probably benign	Het
Cpd	T	A	11: 76,782,296	Y1341F	probably damaging	Het
Cryz	T	C	3: 154,621,743	I268T	probably damaging	Het
Csnk2a1	G	A	2: 152,275,406	R278H	probably damaging	Het
Cyp4a12b	A	G	4: 115,438,157	I487V	probably benign	Het
Dnajb5	T	C	4: 42,956,516		probably benign	Het
Dxo	A	T	17: 34,839,040	H214L	probably damaging	Het
Etfb	T	C	7: 43,452,959		probably null	Het
G6pc2	G	A	2: 69,222,967	V122I	probably damaging	Het
Gm5431	A	T	11: 48,894,713	D278E	probably benign	Het
Gstt2	C	T	10: 75,834,171		probably benign	Het
Hnf4g	A	C	3: 3,651,266		probably benign	Het
Ifi44	T	C	3: 151,745,537	D259G	probably damaging	Het
Klk1	T	C	7: 44,228,596	V92A	probably damaging	Het
Lypla1	T	C	1: 4,844,988	I222T	probably benign	Het
Nbeal2	T	C	9: 110,632,758	N1510D	possibly damaging	Het
Ndufaf7	A	G	17: 78,943,852	R229G	probably damaging	Het
Nphp4	G	A	4: 152,556,382	V1069M	probably benign	Het
Nsd2	A	G	5: 33,864,687	H528R	probably benign	Het
Olfr1298	C	A	2: 111,645,380	V206L	probably benign	Het
Olfr1355	A	G	10: 78,879,837	I222V	possibly damaging	Het
Olfr763	A	T	10: 129,011,827	I181F	probably damaging	Het
Pigh	A	C	12: 79,085,860		probably benign	Het
Prr14l	A	T	5: 32,828,806	M1115K	probably benign	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Pygb	T	C	2: 150,830,473	S831P	probably benign	Het
Ryr2	T	A	13: 11,721,761	D2260V	probably damaging	Het
Sgo2a	T	C	1: 58,017,974	S1106P	probably damaging	Het
Slc5a5	G	A	8: 70,891,332		probably benign	Het
Tekt4	A	G	17: 25,476,384	D397G	probably benign	Het
Trrap	T	A	5: 144,833,287		probably benign	Het
Upf2	T	C	2: 6,018,939		probably benign	Het
Usp17lb	A	T	7: 104,840,381	N445K	possibly damaging	Het
Vmn2r111	A	G	17: 22,571,392	V211A	probably damaging	Het
Vmn2r23	A	G	6: 123,704,407	I91M	probably damaging	Het
Vps13b	C	T	15: 35,877,489		probably benign	Het
Zc3hc1	G	A	6: 30,390,863	T47I	probably benign	Het

Other mutations in Psg21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02390:Psg21	APN	7	18652631	missense	probably benign	0.11
IGL02548:Psg21	APN	7	18655036	missense	possibly damaging	0.89
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

2013-12-09