Mutagenetix > Incidental Mutations

Incidental Mutation 'R3725:Psg18'

270731

Institutional Source

Beutler Lab

Gene Symbol

Psg18

Ensembl Gene

ENSMUSG00000003505

Gene Name

pregnancy specific glycoprotein 18

Synonyms

Cea-3, Cea3, mmCGM6

MMRRC Submission

040716-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R3725 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18345422-18355009 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 18354823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096380 (fasta)

Gene Model

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

AlphaFold

B2RSG7

Predicted Effect

probably benign
Transcript: ENSMUST00000003597

SMART Domains

Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	T	A	7: 139,983,868	R740S	possibly damaging	Het
Adamtsl3	A	C	7: 82,612,404	D1676A	possibly damaging	Het
Atp6v1a	A	G	16: 44,101,757		probably benign	Het
Camsap3	T	C	8: 3,603,785	L485P	probably damaging	Het
Ccdc81	A	T	7: 89,866,630	F614I	possibly damaging	Het
Cdk5rap2	C	A	4: 70,235,437	K1716N	possibly damaging	Het
Cfh	T	C	1: 140,086,496	M1197V	probably damaging	Het
Cyp3a11	A	G	5: 145,866,000	F228L	probably benign	Het
Ddx24	A	G	12: 103,417,605	M575T	probably benign	Het
Dhx36	A	T	3: 62,488,222		probably benign	Het
Dmxl2	T	A	9: 54,393,769	I1554L	probably damaging	Het
Dsp	A	G	13: 38,194,689		probably null	Het
Dsp	A	G	13: 38,197,618	S2181G	probably benign	Het
Epg5	T	C	18: 78,017,679	I1959T	probably benign	Het
Fam135a	T	A	1: 24,057,434	K77*	probably null	Het
Fam208b	T	C	13: 3,590,538	I200V	probably benign	Het
Fam209	T	C	2: 172,473,995	S97P	probably benign	Het
Fbxo11	A	G	17: 88,009,286	V323A	probably benign	Het
Fzd5	A	G	1: 64,736,339	S88P	probably damaging	Het
Galnt12	A	T	4: 47,104,140	T133S	probably damaging	Het
Gja8	A	G	3: 96,919,845	L167P	probably damaging	Het
Gm7173	T	A	X: 79,510,015	T285S	probably damaging	Het
Gm8730	T	C	8: 102,865,032		noncoding transcript	Het
Gsdmd	A	G	15: 75,866,090	D247G	probably benign	Het
Iqcg	A	G	16: 33,020,539		probably null	Het
Lamb1	C	T	12: 31,321,075	A1375V	probably null	Het
Mlip	A	G	9: 77,190,380	S282P	probably damaging	Het
Nfxl1	A	T	5: 72,517,062	D831E	probably damaging	Het
Nipbl	T	C	15: 8,295,661	D2506G	probably damaging	Het
Olfr1355	T	A	10: 78,879,932	Y253*	probably null	Het
Olfr805	A	T	10: 129,723,115	V143D	probably damaging	Het
Pcdhb9	T	C	18: 37,401,601	L216P	possibly damaging	Het
Pigc	G	A	1: 161,971,291	G281R	possibly damaging	Het
Polr3g	C	T	13: 81,694,635	R87H	probably damaging	Het
Ppfia4	T	C	1: 134,313,711	D502G	probably benign	Het
Rad9a	G	A	19: 4,197,695	R179C	probably damaging	Het
Rxra	A	G	2: 27,754,277	D327G	probably damaging	Het
Samd7	T	C	3: 30,751,134	V22A	possibly damaging	Het
Slc22a29	A	T	19: 8,218,609	V22D	possibly damaging	Het
Slmap	C	A	14: 26,427,242	R671S	probably damaging	Het
Smarcal1	T	C	1: 72,626,596	F751S	possibly damaging	Het
Smarcb1	T	A	10: 75,916,786	K73N	probably benign	Het
Sptssa	T	C	12: 54,656,395	E30G	probably damaging	Het
Stpg2	A	G	3: 139,317,477	K418R	probably benign	Het
Tmem19	A	G	10: 115,359,770		probably benign	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Tmod1	T	C	4: 46,097,026	V273A	probably benign	Het
Tnrc6c	C	T	11: 117,723,529	R838W	probably damaging	Het
Uggt1	A	T	1: 36,182,507	L43*	probably null	Het
Vmn1r205	A	T	13: 22,592,501	F144I	probably damaging	Het
Vmn2r54	G	A	7: 12,632,296	T237I	probably benign	Het
Vmn2r7	A	T	3: 64,724,991	F17I	possibly damaging	Het
Vpreb3	G	A	10: 75,943,291		probably null	Het
Vps13d	T	A	4: 145,115,648		probably benign	Het
Zkscan5	A	T	5: 145,220,913	R742W	probably damaging	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
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
R9054:Psg18	UTSW	7	18353525	missense	possibly damaging	0.82
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'- AGAGATTCCTGCTGCTGAGC -3'
(R):5'- TGGAAGTGACTGAGCACTTCTATG -3'

Sequencing Primer
(F):5'- GCACCTTCTGCACCATGAC -3'
(R):5'- GTGACTGAGCACTTCTATGGACAC -3'

Posted On

2015-03-18