Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02258:Psg16'

286648

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psg16

Ensembl Gene

ENSMUSG00000066760

Gene Name

pregnancy specific beta-1-glycoprotein 16

Synonyms

bCEA, Cea11

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02258

Quality Score

Status

Chromosome

Chromosomal Location

16807965-16867375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16829217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 267 (D267G)

Ref Sequence

ENSEMBL: ENSMUSP00000113025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071399] [ENSMUST00000118367] [ENSMUST00000152671]

AlphaFold

Q8K0U8

Predicted Effect

probably damaging
Transcript: ENSMUST00000071399
AA Change: D267G

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

SMART Domains

Protein: ENSMUSP00000071348
Gene: ENSMUSG00000066760
AA Change: D267G

Domain	Start	End	E-Value	Type
IG_like	6	52	1.42e2	SMART
IG	71	172	1.21e-2	SMART
IG	191	292	2.56e-1	SMART
IG_like	302	395	5.13e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000118367
AA Change: D267G

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

SMART Domains

Protein: ENSMUSP00000113025
Gene: ENSMUSG00000066760
AA Change: D267G

Domain	Start	End	E-Value	Type
IG_like	6	52	1.42e2	SMART
IG	71	172	1.21e-2	SMART
IG	191	292	2.56e-1	SMART
IGc2	308	372	3.56e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131153

Predicted Effect

probably benign
Transcript: ENSMUST00000152671

SMART Domains

Protein: ENSMUSP00000118977
Gene: ENSMUSG00000066760

Domain	Start	End	E-Value	Type
low complexity region	24	40	N/A	INTRINSIC
IG	46	143	4.29e-3	SMART
IG	162	261	2.94e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 7 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Diaph1	G	T	18: 37,986,383 (GRCm39)	R1166S	probably damaging	Het
Fosl2	C	A	5: 32,304,259 (GRCm39)	Q65K	probably damaging	Het
H2bc8	G	T	13: 23,755,609 (GRCm39)	M1I	probably null	Het
Il18	A	G	9: 50,488,003 (GRCm39)	N29S	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or7g30	T	A	9: 19,352,293 (GRCm39)	F28Y	possibly damaging	Het
Or7g30	A	T	9: 19,352,295 (GRCm39)	T29S	probably benign	Het

Other mutations in Psg16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01993:Psg16	APN	7	16,827,631 (GRCm39)	missense	probably benign	0.08
R0379:Psg16	UTSW	7	16,864,583 (GRCm39)	missense	probably benign	0.09
R0389:Psg16	UTSW	7	16,829,088 (GRCm39)	missense	probably benign
R0443:Psg16	UTSW	7	16,829,088 (GRCm39)	missense	probably benign
R1231:Psg16	UTSW	7	16,829,230 (GRCm39)	nonsense	probably null
R1594:Psg16	UTSW	7	16,827,748 (GRCm39)	missense	probably damaging	1.00
R2064:Psg16	UTSW	7	16,827,673 (GRCm39)	missense	possibly damaging	0.91
R2118:Psg16	UTSW	7	16,824,548 (GRCm39)	missense	probably benign	0.33
R3806:Psg16	UTSW	7	16,824,609 (GRCm39)	missense	probably benign	0.24
R4397:Psg16	UTSW	7	16,824,623 (GRCm39)	missense	possibly damaging	0.68
R4583:Psg16	UTSW	7	16,829,097 (GRCm39)	missense	probably benign	0.01
R4685:Psg16	UTSW	7	16,824,459 (GRCm39)	missense	probably benign	0.00
R4929:Psg16	UTSW	7	16,829,031 (GRCm39)	missense	possibly damaging	0.79
R5310:Psg16	UTSW	7	16,824,560 (GRCm39)	missense	probably damaging	0.99
R6106:Psg16	UTSW	7	16,829,091 (GRCm39)	missense	possibly damaging	0.73
R6320:Psg16	UTSW	7	16,822,112 (GRCm39)	missense	probably damaging	1.00
R6702:Psg16	UTSW	7	16,824,321 (GRCm39)	missense	probably damaging	1.00
R6703:Psg16	UTSW	7	16,824,321 (GRCm39)	missense	probably damaging	1.00
R7329:Psg16	UTSW	7	16,824,611 (GRCm39)	missense	possibly damaging	0.86
R7679:Psg16	UTSW	7	16,827,685 (GRCm39)	missense	probably damaging	1.00
R8292:Psg16	UTSW	7	16,827,701 (GRCm39)	missense	probably damaging	0.99
R8372:Psg16	UTSW	7	16,829,240 (GRCm39)	missense	probably benign	0.10
R8491:Psg16	UTSW	7	16,824,437 (GRCm39)	missense	probably damaging	1.00
R8796:Psg16	UTSW	7	16,827,814 (GRCm39)	missense	possibly damaging	0.90
R9131:Psg16	UTSW	7	16,832,024 (GRCm39)	missense	probably benign	0.00
R9437:Psg16	UTSW	7	16,827,715 (GRCm39)	missense	probably damaging	1.00
R9659:Psg16	UTSW	7	16,824,524 (GRCm39)	missense	possibly damaging	0.55
R9746:Psg16	UTSW	7	16,832,086 (GRCm39)	missense	probably benign	0.02
R9788:Psg16	UTSW	7	16,824,524 (GRCm39)	missense	possibly damaging	0.55

Posted On

2015-04-16