Mutagenetix > Incidental Mutation

Incidental Mutation 'R3032:Psg18'

264750

Institutional Source

Beutler Lab

Gene Symbol

Psg18

Ensembl Gene

ENSMUSG00000003505

Gene Name

pregnancy specific beta-1-glycoprotein 18

Synonyms

Cea-3, mmCGM6, Cea3

MMRRC Submission

040548-MU

Accession Numbers

Essential gene?

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

Stock #

R3032 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18079669-18088963 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18084904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 64 (S64L)

Ref Sequence

ENSEMBL: ENSMUSP00000096380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003597] [ENSMUST00000098783]

AlphaFold

B2RSG7

Predicted Effect

probably benign
Transcript: ENSMUST00000003597
AA Change: S185L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: S185L

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
IG	40	140	2.11e-2	SMART
IG	161	262	1.03e0	SMART
IG	281	380	2.15e-3	SMART
IGc2	398	462	1.58e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098783
AA Change: S64L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505
AA Change: S64L

Domain	Start	End	E-Value	Type
IG	40	141	1.03e0	SMART
IG	160	259	2.15e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183222

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	A	T	14: 8,253,466 (GRCm38)	L227Q	probably damaging	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dpysl4	A	G	7: 138,676,152 (GRCm39)	N315D	probably benign	Het
Eps8	A	T	6: 137,489,175 (GRCm39)	S408T	probably damaging	Het
F13b	A	C	1: 139,445,071 (GRCm39)	T574P	probably damaging	Het
Fgfrl1	A	G	5: 108,853,926 (GRCm39)	I344M	probably benign	Het
Or5b21	G	A	19: 12,839,282 (GRCm39)	V48I	probably benign	Het
Park7	T	C	4: 150,985,509 (GRCm39)	K122R	probably benign	Het
Rhbdf1	T	C	11: 32,159,985 (GRCm39)	D172G	probably damaging	Het
Serpinb6b	G	A	13: 33,152,551 (GRCm39)	G20D	possibly damaging	Het
Sorcs1	G	A	19: 50,213,613 (GRCm39)	R705C	probably damaging	Het
Syt14	A	T	1: 192,669,059 (GRCm39)	Y65N	possibly damaging	Het
Tll1	T	C	8: 64,551,526 (GRCm39)	N285S	probably damaging	Het
Umodl1	G	A	17: 31,208,502 (GRCm39)	R849Q	probably benign	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het

Other mutations in Psg18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01458:Psg18	APN	7	18,088,741 (GRCm39)	start codon destroyed	probably null	0.99
IGL01748:Psg18	APN	7	18,087,476 (GRCm39)	missense	probably benign	0.05
IGL01767:Psg18	APN	7	18,087,322 (GRCm39)	missense	possibly damaging	0.80
IGL02727:Psg18	APN	7	18,079,875 (GRCm39)	missense	probably damaging	1.00
IGL02744:Psg18	APN	7	18,083,327 (GRCm39)	missense	probably benign	0.38
G1Funyon:Psg18	UTSW	7	18,087,302 (GRCm39)	missense	probably damaging	0.99
PIT4466001:Psg18	UTSW	7	18,083,241 (GRCm39)	missense	probably benign	0.30
R0331:Psg18	UTSW	7	18,087,233 (GRCm39)	missense	probably benign	0.03
R1077:Psg18	UTSW	7	18,085,000 (GRCm39)	missense	possibly damaging	0.84
R1171:Psg18	UTSW	7	18,080,004 (GRCm39)	missense	probably benign	0.10
R1173:Psg18	UTSW	7	18,088,742 (GRCm39)	start codon destroyed	probably null	0.97
R1234:Psg18	UTSW	7	18,083,115 (GRCm39)	missense	probably damaging	1.00
R1553:Psg18	UTSW	7	18,087,406 (GRCm39)	missense	probably benign	0.19
R1632:Psg18	UTSW	7	18,084,824 (GRCm39)	missense	probably benign	0.02
R2108:Psg18	UTSW	7	18,084,799 (GRCm39)	missense	probably damaging	1.00
R2439:Psg18	UTSW	7	18,080,044 (GRCm39)	missense	probably benign	0.24
R3053:Psg18	UTSW	7	18,083,118 (GRCm39)	missense	probably damaging	1.00
R3432:Psg18	UTSW	7	18,083,096 (GRCm39)	missense	possibly damaging	0.61
R3725:Psg18	UTSW	7	18,088,748 (GRCm39)	start gained	probably benign
R4479:Psg18	UTSW	7	18,084,787 (GRCm39)	missense	probably benign	0.01
R4480:Psg18	UTSW	7	18,084,787 (GRCm39)	missense	probably benign	0.01
R4846:Psg18	UTSW	7	18,084,711 (GRCm39)	nonsense	probably null
R4858:Psg18	UTSW	7	18,087,409 (GRCm39)	missense	possibly damaging	0.49
R5010:Psg18	UTSW	7	18,083,279 (GRCm39)	missense	probably damaging	1.00
R5225:Psg18	UTSW	7	18,079,874 (GRCm39)	missense	probably damaging	1.00
R5450:Psg18	UTSW	7	18,087,350 (GRCm39)	missense	probably benign	0.32
R5526:Psg18	UTSW	7	18,083,273 (GRCm39)	missense	probably damaging	1.00
R5840:Psg18	UTSW	7	18,080,527 (GRCm39)	intron	probably benign
R6409:Psg18	UTSW	7	18,087,446 (GRCm39)	missense	probably benign
R7164:Psg18	UTSW	7	18,084,862 (GRCm39)	missense	possibly damaging	0.89
R7276:Psg18	UTSW	7	18,079,909 (GRCm39)	missense	probably damaging	0.99
R7768:Psg18	UTSW	7	18,079,953 (GRCm39)	missense	probably damaging	1.00
R8301:Psg18	UTSW	7	18,087,302 (GRCm39)	missense	probably damaging	0.99
R8700:Psg18	UTSW	7	18,087,550 (GRCm39)	missense	probably damaging	1.00
R8982:Psg18	UTSW	7	18,083,300 (GRCm39)	missense	probably benign	0.20
R9042:Psg18	UTSW	7	18,083,047 (GRCm39)	missense	probably benign	0.44
R9054:Psg18	UTSW	7	18,087,450 (GRCm39)	missense	possibly damaging	0.82
R9442:Psg18	UTSW	7	18,083,185 (GRCm39)	nonsense	probably null
R9538:Psg18	UTSW	7	18,084,713 (GRCm39)	missense	probably benign	0.01
R9689:Psg18	UTSW	7	18,084,880 (GRCm39)	missense	probably benign	0.00
Z1176:Psg18	UTSW	7	18,088,712 (GRCm39)	missense	probably benign	0.07
Z1177:Psg18	UTSW	7	18,083,123 (GRCm39)	missense	probably benign	0.10
Z1177:Psg18	UTSW	7	18,083,040 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- TATCGAGTCAGAGTTCGTAGGG -3'
(R):5'- TAAACAGCTGCTCAGGACAC -3'

Sequencing Primer
(F):5'- CAGAGTTCGTAGGGTGTAGAATCC -3'
(R):5'- ACACAGGGCGCCATCTTC -3'

Posted On

2015-02-05