Mutagenetix > Incidental Mutation

Incidental Mutation 'R9054:Psg18'

688564

Institutional Source

Beutler Lab

Gene Symbol

Psg18

Ensembl Gene

ENSMUSG00000003505

Gene Name

pregnancy specific glycoprotein 18

Synonyms

Cea-3, Cea3, mmCGM6

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R9054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18345422-18355009 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18353525 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 69 (R69S)

Ref Sequence

ENSEMBL: ENSMUSP00000003597 (fasta)

Gene Model

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

AlphaFold

B2RSG7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003597
AA Change: R69S

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: R69S

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

SMART Domains

Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankef1	T	A	2: 136,553,674	D641E	probably benign	Het
Anln	A	G	9: 22,360,820		probably null	Het
Areg	A	T	5: 91,144,358	E172D	probably damaging	Het
Ccdc51	A	T	9: 109,089,414	T24S	probably benign	Het
Cckar	A	T	5: 53,703,082	I135N	probably damaging	Het
Cdca7	CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA	CGAGGAAGAGGAGGAGGAAGAGGA	2: 72,483,477		probably benign	Het
Cep295	T	C	9: 15,324,255	H2056R	possibly damaging	Het
Chrnb2	T	C	3: 89,757,255	K451E	probably damaging	Het
Ctnna2	C	T	6: 76,942,266	R663Q	probably benign	Het
Cyp4f37	A	T	17: 32,634,279	I406F	probably benign	Het
Eml4	T	A	17: 83,427,211		probably benign	Het
Fkrp	G	T	7: 16,810,644	T431K	probably damaging	Het
Fsip2	A	T	2: 82,975,836	Y833F	possibly damaging	Het
Galnt2	T	C	8: 124,332,098		probably null	Het
Gm13101	T	C	4: 143,965,744	Q229R	probably benign	Het
Gm8180	T	A	14: 43,782,349		probably null	Het
Gm8882	G	C	6: 132,361,893	Q121E	unknown	Het
Hcn1	T	C	13: 117,971,635	S552P	unknown	Het
Ifit1	A	C	19: 34,648,487	E341A	possibly damaging	Het
Iyd	A	G	10: 3,540,250		probably benign	Het
Krt72	A	T	15: 101,786,401	S20T	probably damaging	Het
Lemd2	G	T	17: 27,204,095	D108E	probably benign	Het
Lipn	A	T	19: 34,076,976	I205F	possibly damaging	Het
Nat1	G	T	8: 67,491,071	R36L	probably benign	Het
Nebl	A	T	2: 17,411,096	M334K	possibly damaging	Het
Nectin4	A	T	1: 171,386,783	N502I	probably damaging	Het
Nrp1	G	A	8: 128,487,908	V626I	probably benign	Het
Olfr160	C	T	9: 37,711,908	V124M	probably damaging	Het
Olfr692	A	G	7: 105,368,473	Y49C	probably damaging	Het
Oprm1	G	A	10: 6,823,914		probably benign	Het
Pde2a	A	G	7: 101,507,720	Y637C	probably damaging	Het
Pde4d	T	C	13: 109,935,390	V306A	probably damaging	Het
Pdzd9	G	A	7: 120,670,275		probably benign	Het
Pitpnm3	T	A	11: 72,056,191	D810V	probably damaging	Het
Pkd1l3	A	T	8: 109,665,672	H1966L	probably benign	Het
Pmfbp1	C	T	8: 109,521,029	T319I	possibly damaging	Het
Ptprg	A	T	14: 12,213,638	Q1002L	possibly damaging	Het
Ptprj	T	C	2: 90,460,640	Y585C	probably damaging	Het
Rad51c	T	C	11: 87,402,716	T105A	probably benign	Het
Rbm12	A	T	2: 156,095,561	D930E	unknown	Het
Rlf	A	C	4: 121,150,587	S509A	possibly damaging	Het
Slc39a3	C	A	10: 81,033,665	G53C	probably damaging	Het
Smchd1	G	A	17: 71,363,022	Q1685*	probably null	Het
Sprr2d	A	C	3: 92,340,408	E52A	unknown	Het
Stat1	A	G	1: 52,142,927	N355S	probably damaging	Het
Tmem30b	T	C	12: 73,546,149	E64G	probably benign	Het
Ttll11	A	T	2: 35,979,380	V82D	probably benign	Het
Ttn	T	A	2: 76,740,633	T26639S	probably damaging	Het
Usp53	A	T	3: 122,934,076	N952K	probably benign	Het
Vmn1r199	T	A	13: 22,383,554	H339Q	possibly damaging	Het
Vps13b	G	A	15: 35,422,391	D166N	probably damaging	Het
Zfp954	C	A	7: 7,116,098	C149F	probably benign	Het

Other mutations in Psg18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01458:Psg18	APN	7	18354816	start codon destroyed	probably null	0.99
IGL01748:Psg18	APN	7	18353551	missense	probably benign	0.05
IGL01767:Psg18	APN	7	18353397	missense	possibly damaging	0.80
IGL02727:Psg18	APN	7	18345950	missense	probably damaging	1.00
IGL02744:Psg18	APN	7	18349402	missense	probably benign	0.38
G1Funyon:Psg18	UTSW	7	18353377	missense	probably damaging	0.99
PIT4466001:Psg18	UTSW	7	18349316	missense	probably benign	0.30
R0331:Psg18	UTSW	7	18353308	missense	probably benign	0.03
R1077:Psg18	UTSW	7	18351075	missense	possibly damaging	0.84
R1171:Psg18	UTSW	7	18346079	missense	probably benign	0.10
R1173:Psg18	UTSW	7	18354817	start codon destroyed	probably null	0.97
R1234:Psg18	UTSW	7	18349190	missense	probably damaging	1.00
R1553:Psg18	UTSW	7	18353481	missense	probably benign	0.19
R1632:Psg18	UTSW	7	18350899	missense	probably benign	0.02
R2108:Psg18	UTSW	7	18350874	missense	probably damaging	1.00
R2439:Psg18	UTSW	7	18346119	missense	probably benign	0.24
R3032:Psg18	UTSW	7	18350979	missense	probably benign	0.01
R3053:Psg18	UTSW	7	18349193	missense	probably damaging	1.00
R3432:Psg18	UTSW	7	18349171	missense	possibly damaging	0.61
R3725:Psg18	UTSW	7	18354823	start gained	probably benign
R4479:Psg18	UTSW	7	18350862	missense	probably benign	0.01
R4480:Psg18	UTSW	7	18350862	missense	probably benign	0.01
R4846:Psg18	UTSW	7	18350786	nonsense	probably null
R4858:Psg18	UTSW	7	18353484	missense	possibly damaging	0.49
R5010:Psg18	UTSW	7	18349354	missense	probably damaging	1.00
R5225:Psg18	UTSW	7	18345949	missense	probably damaging	1.00
R5450:Psg18	UTSW	7	18353425	missense	probably benign	0.32
R5526:Psg18	UTSW	7	18349348	missense	probably damaging	1.00
R5840:Psg18	UTSW	7	18346602	intron	probably benign
R6409:Psg18	UTSW	7	18353521	missense	probably benign
R7164:Psg18	UTSW	7	18350937	missense	possibly damaging	0.89
R7276:Psg18	UTSW	7	18345984	missense	probably damaging	0.99
R7768:Psg18	UTSW	7	18346028	missense	probably damaging	1.00
R8301:Psg18	UTSW	7	18353377	missense	probably damaging	0.99
R8700:Psg18	UTSW	7	18353625	missense	probably damaging	1.00
R8982:Psg18	UTSW	7	18349375	missense	probably benign	0.20
R9042:Psg18	UTSW	7	18349122	missense	probably benign	0.44
R9442:Psg18	UTSW	7	18349260	nonsense	probably null
R9538:Psg18	UTSW	7	18350788	missense	probably benign	0.01
R9689:Psg18	UTSW	7	18350955	missense	probably benign	0.00
Z1176:Psg18	UTSW	7	18354787	missense	probably benign	0.07
Z1177:Psg18	UTSW	7	18349115	missense	probably benign	0.30
Z1177:Psg18	UTSW	7	18349198	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TACACGTGCAAGTACAGGGATG -3'
(R):5'- ACCTGCTCATTATTGGTGGC -3'

Sequencing Primer
(F):5'- CACGTGCAAGTACAGGGATGTATTTG -3'
(R):5'- GCTCATTATTGGTGGCTTCTC -3'

Posted On

2021-11-19