Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02390:Psg21'

294203

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: 0.049) question?

Stock #

IGL02390

Quality Score

Status

Chromosome

Chromosomal Location

18646736-18656725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18652631 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 143 (H143Q)

Ref Sequence

ENSEMBL: ENSMUSP00000092387 (fasta)

Gene Model

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

AlphaFold

Q9DAV5

Predicted Effect

probably benign
Transcript: ENSMUST00000094793
AA Change: H143Q

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000092387
Gene: ENSMUSG00000070796
AA Change: H143Q

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 benign
Transcript: ENSMUST00000182128
AA Change: H143Q

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000138173
Gene: ENSMUSG00000070796
AA Change: H143Q

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
4931406P16Rik	T	C	7: 34,248,218	D455G	probably damaging	Het
Abca5	T	C	11: 110,296,551	K894R	probably benign	Het
Ampd1	C	T	3: 103,079,041	A12V	probably benign	Het
Ano4	T	A	10: 89,024,981	D345V	possibly damaging	Het
Arl6	A	G	16: 59,621,217		probably null	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Atrn	C	T	2: 131,020,977	P1326S	possibly damaging	Het
Btbd9	A	G	17: 30,524,814	V238A	probably benign	Het
Cdh16	T	C	8: 104,621,974	T141A	probably damaging	Het
Cetn4	T	C	3: 37,309,156	D102G	probably damaging	Het
Col5a3	T	A	9: 20,776,996	N1256I	unknown	Het
Cyfip2	A	G	11: 46,221,398	F993L	possibly damaging	Het
Dcaf6	T	A	1: 165,422,921	I125F	possibly damaging	Het
Dclk2	A	C	3: 86,824,683	S336A	probably damaging	Het
Dnah8	G	A	17: 30,830,845	V4327I	probably benign	Het
Ebna1bp2	T	C	4: 118,621,497	V59A	possibly damaging	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
F2	A	T	2: 91,632,987	V184D	possibly damaging	Het
Fbxo38	C	T	18: 62,533,589	R171H	probably damaging	Het
Fhod3	A	C	18: 25,066,275	S668R	probably benign	Het
Fkbp10	T	A	11: 100,416,017	F78L	probably damaging	Het
Gm13083	T	A	4: 143,615,325	M108K	probably benign	Het
Hyi	C	T	4: 118,362,613	R254C	probably benign	Het
Igfl3	A	T	7: 18,181,734		probably benign	Het
Lgals9	T	A	11: 78,963,535	I308F	probably damaging	Het
Lrrc8a	C	A	2: 30,256,701	P509Q	probably damaging	Het
Mapkap1	T	A	2: 34,432,089	N6K	probably damaging	Het
Mdh1b	T	A	1: 63,721,557	H115L	probably benign	Het
Med17	G	A	9: 15,277,667	R101*	probably null	Het
Mrpl15	T	C	1: 4,785,614	S22G	probably benign	Het
Nf1	T	A	11: 79,411,676		probably benign	Het
Nf1	T	C	11: 79,565,935	Y616H	possibly damaging	Het
Olfr107	A	T	17: 37,406,095	L182F	probably benign	Het
Olfr1312	A	T	2: 112,042,711	V107E	possibly damaging	Het
Olfr270	T	A	4: 52,971,263	I214N	probably damaging	Het
Olig1	C	A	16: 91,270,153	Q93K	probably damaging	Het
Otoa	C	A	7: 121,131,367	L597M	possibly damaging	Het
Parp16	C	T	9: 65,233,769	P207L	possibly damaging	Het
Pbrm1	T	A	14: 31,032,510	D162E	probably benign	Het
Prdm10	A	G	9: 31,353,389	I658V	possibly damaging	Het
Rfx4	C	T	10: 84,840,150	R28W	probably damaging	Het
Sart1	T	G	19: 5,380,461	M753L	possibly damaging	Het
Smcr8	T	A	11: 60,779,722	D565E	probably benign	Het
Smyd4	T	A	11: 75,387,506		probably null	Het
Sned1	T	C	1: 93,261,664	V274A	probably benign	Het
Tbc1d13	T	C	2: 30,137,387		probably benign	Het
Tox	A	T	4: 6,697,534	I423N	possibly damaging	Het
Tsc2	A	T	17: 24,600,453	V1232D	probably damaging	Het
Uckl1	C	T	2: 181,574,419	V178I	possibly damaging	Het
Usp13	T	A	3: 32,931,716	Y175*	probably null	Het
Vwde	A	G	6: 13,190,685	V469A	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
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

2015-04-16