Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02926:Psg27'

363857

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psg27

Ensembl Gene

ENSMUSG00000070797

Gene Name

pregnancy-specific glycoprotein 27

Synonyms

EG545925, cea15

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02926

Quality Score

Status

Chromosome

Chromosomal Location

18556514-18567305 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18557129 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 383 (V383E)

Ref Sequence

ENSEMBL: ENSMUSP00000092388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094794]

Predicted Effect

probably damaging
Transcript: ENSMUST00000094794
AA Change: V383E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092388
Gene: ENSMUSG00000070797
AA Change: V383E

Domain	Start	End	E-Value	Type
IG	39	140	4.13e-5	SMART
IG	159	260	5.89e-1	SMART
IG	279	380	1.39e-2	SMART
IGc2	396	460	3.62e-10	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	T	2: 130,712,366	R921K	probably benign	Het
Alms1	A	T	6: 85,641,450	D2826V	probably damaging	Het
Alpl	C	T	4: 137,742,634	A460T	probably damaging	Het
C2cd5	A	G	6: 143,031,237		probably benign	Het
C4b	C	T	17: 34,730,712	R1468Q	possibly damaging	Het
Calu	A	G	6: 29,366,920	T44A	possibly damaging	Het
Cgn	T	C	3: 94,778,016	K399R	probably benign	Het
Cyp2t4	G	A	7: 27,157,803	V356M	probably damaging	Het
D430041D05Rik	T	C	2: 104,214,259	D683G	probably damaging	Het
Dhcr24	T	A	4: 106,586,355	I410N	probably damaging	Het
Dmap1	T	A	4: 117,681,888	E17V	probably benign	Het
Dnah7a	A	G	1: 53,495,950	I2717T	possibly damaging	Het
Epb41l3	G	T	17: 69,247,746	K280N	probably damaging	Het
Espl1	T	A	15: 102,299,855	M432K	probably damaging	Het
Fgf5	C	A	5: 98,262,015	A141E	probably damaging	Het
Fto	T	A	8: 91,485,167	F373L	probably damaging	Het
Gpatch1	T	C	7: 35,308,269	D122G	probably damaging	Het
Ints11	T	C	4: 155,888,111		probably null	Het
Jarid2	A	G	13: 44,902,929	Q398R	probably benign	Het
Kcnh1	A	G	1: 192,276,900	D254G	probably damaging	Het
Lamc3	C	T	2: 31,935,725		probably benign	Het
Lamc3	C	T	2: 31,935,726		probably benign	Het
Ltbp4	T	C	7: 27,328,872		probably null	Het
Mcm6	A	G	1: 128,339,382	Y575H	probably damaging	Het
Myh9	A	C	15: 77,787,626	Y422D	probably damaging	Het
Narfl	A	G	17: 25,782,154	H460R	probably benign	Het
Olfr1260	T	C	2: 89,978,162	L128P	probably damaging	Het
Olfr1458	A	C	19: 13,102,823	N160K	possibly damaging	Het
Olfr911-ps1	T	C	9: 38,523,725		probably benign	Het
Plcb1	T	C	2: 135,364,762		probably benign	Het
Pmfbp1	A	G	8: 109,520,249	E251G	probably damaging	Het
Ptprn	A	T	1: 75,247,873	H946Q	possibly damaging	Het
Rbl1	A	G	2: 157,167,413	V734A	probably benign	Het
Rspry1	T	A	8: 94,649,811	N320K	probably damaging	Het
Ryr1	A	T	7: 29,061,540	V3219D	probably damaging	Het
Ryr2	C	A	13: 11,759,835	W1145L	probably damaging	Het
Scel	A	T	14: 103,576,247	R319*	probably null	Het
Stxbp2	C	T	8: 3,635,629	T226I	probably benign	Het
Tac1	A	T	6: 7,562,410	N106I	possibly damaging	Het
Trim13	G	T	14: 61,605,244		probably null	Het
Tspan31	T	G	10: 127,068,909		probably null	Het
Usp36	C	T	11: 118,264,783	V723M	probably benign	Het
Utrn	A	T	10: 12,690,760	N1219K	probably damaging	Het
Vcan	G	T	13: 89,688,623	T2934K	probably damaging	Het

Other mutations in Psg27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Psg27	APN	7	18561804	missense	probably damaging	1.00
IGL00417:Psg27	APN	7	18561917	missense	probably benign	0.22
IGL01344:Psg27	APN	7	18560417	missense	probably damaging	1.00
IGL01781:Psg27	APN	7	18565064	missense	probably damaging	1.00
IGL02547:Psg27	APN	7	18560628	missense	probably benign
IGL03074:Psg27	APN	7	18560529	missense	probably benign	0.02
IGL03237:Psg27	APN	7	18560492	missense	probably benign	0.00
IGL02796:Psg27	UTSW	7	18561950	missense	probably benign	0.08
R0437:Psg27	UTSW	7	18560711	splice site	probably benign
R0604:Psg27	UTSW	7	18557072	missense	probably damaging	0.98
R1163:Psg27	UTSW	7	18565309	missense	probably damaging	0.99
R2072:Psg27	UTSW	7	18560417	missense	probably damaging	1.00
R2072:Psg27	UTSW	7	18565009	missense	probably benign	0.16
R2073:Psg27	UTSW	7	18560417	missense	probably damaging	1.00
R2074:Psg27	UTSW	7	18560417	missense	probably damaging	1.00
R2081:Psg27	UTSW	7	18556958	missense	probably damaging	1.00
R2206:Psg27	UTSW	7	18567111	nonsense	probably null
R2866:Psg27	UTSW	7	18561893	missense	probably benign
R3783:Psg27	UTSW	7	18560354	missense	probably damaging	1.00
R3784:Psg27	UTSW	7	18560354	missense	probably damaging	1.00
R4463:Psg27	UTSW	7	18557085	missense	possibly damaging	0.46
R5312:Psg27	UTSW	7	18557033	missense	probably benign	0.43
R5885:Psg27	UTSW	7	18561786	missense	probably damaging	0.96
R6087:Psg27	UTSW	7	18556944	missense	probably benign	0.05
R7011:Psg27	UTSW	7	18556873	missense	probably benign	0.00
R7198:Psg27	UTSW	7	18561801	missense	probably damaging	1.00
R7381:Psg27	UTSW	7	18567083	missense	probably benign	0.20
X0064:Psg27	UTSW	7	18561795	nonsense	probably null

Posted On

2015-12-18