Mutagenetix > Incidental Mutation

Incidental Mutation 'R3725:Psg18'

270731

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

040716-MU

Accession Numbers

Essential gene?

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

Stock #

R3725 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18079669-18088963 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 18088748 bp (GRCm39)

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: 139,563,781 (GRCm39)	R740S	possibly damaging	Het
Adamtsl3	A	C	7: 82,261,612 (GRCm39)	D1676A	possibly damaging	Het
Atp6v1a	A	G	16: 43,922,120 (GRCm39)		probably benign	Het
Camsap3	T	C	8: 3,653,785 (GRCm39)	L485P	probably damaging	Het
Ccdc81	A	T	7: 89,515,838 (GRCm39)	F614I	possibly damaging	Het
Cdk5rap2	C	A	4: 70,153,674 (GRCm39)	K1716N	possibly damaging	Het
Cfap47	T	A	X: 78,553,621 (GRCm39)	T285S	probably damaging	Het
Cfh	T	C	1: 140,014,234 (GRCm39)	M1197V	probably damaging	Het
Cyp3a11	A	G	5: 145,802,810 (GRCm39)	F228L	probably benign	Het
Ddx24	A	G	12: 103,383,864 (GRCm39)	M575T	probably benign	Het
Dhx36	A	T	3: 62,395,643 (GRCm39)		probably benign	Het
Dmxl2	T	A	9: 54,301,053 (GRCm39)	I1554L	probably damaging	Het
Dsp	A	G	13: 38,378,665 (GRCm39)		probably null	Het
Dsp	A	G	13: 38,381,594 (GRCm39)	S2181G	probably benign	Het
Epg5	T	C	18: 78,060,894 (GRCm39)	I1959T	probably benign	Het
Fam135a	T	A	1: 24,096,515 (GRCm39)	K77*	probably null	Het
Fam209	T	C	2: 172,315,915 (GRCm39)	S97P	probably benign	Het
Fbxo11	A	G	17: 88,316,714 (GRCm39)	V323A	probably benign	Het
Fzd5	A	G	1: 64,775,498 (GRCm39)	S88P	probably damaging	Het
Galnt12	A	T	4: 47,104,140 (GRCm39)	T133S	probably damaging	Het
Gja8	A	G	3: 96,827,161 (GRCm39)	L167P	probably damaging	Het
Gm8730	T	C	8: 103,591,664 (GRCm39)		noncoding transcript	Het
Gsdmd	A	G	15: 75,737,939 (GRCm39)	D247G	probably benign	Het
Iqcg	A	G	16: 32,840,909 (GRCm39)		probably null	Het
Lamb1	C	T	12: 31,371,074 (GRCm39)	A1375V	probably null	Het
Mlip	A	G	9: 77,097,662 (GRCm39)	S282P	probably damaging	Het
Nfxl1	A	T	5: 72,674,405 (GRCm39)	D831E	probably damaging	Het
Nipbl	T	C	15: 8,325,145 (GRCm39)	D2506G	probably damaging	Het
Or6c212	A	T	10: 129,558,984 (GRCm39)	V143D	probably damaging	Het
Or7a39	T	A	10: 78,715,766 (GRCm39)	Y253*	probably null	Het
Pcdhb9	T	C	18: 37,534,654 (GRCm39)	L216P	possibly damaging	Het
Pigc	G	A	1: 161,798,860 (GRCm39)	G281R	possibly damaging	Het
Polr3g	C	T	13: 81,842,754 (GRCm39)	R87H	probably damaging	Het
Ppfia4	T	C	1: 134,241,449 (GRCm39)	D502G	probably benign	Het
Rad9a	G	A	19: 4,247,694 (GRCm39)	R179C	probably damaging	Het
Rxra	A	G	2: 27,644,289 (GRCm39)	D327G	probably damaging	Het
Samd7	T	C	3: 30,805,283 (GRCm39)	V22A	possibly damaging	Het
Slc22a29	A	T	19: 8,195,973 (GRCm39)	V22D	possibly damaging	Het
Slmap	C	A	14: 26,148,397 (GRCm39)	R671S	probably damaging	Het
Smarcal1	T	C	1: 72,665,755 (GRCm39)	F751S	possibly damaging	Het
Smarcb1	T	A	10: 75,752,620 (GRCm39)	K73N	probably benign	Het
Sptssa	T	C	12: 54,703,180 (GRCm39)	E30G	probably damaging	Het
Stpg2	A	G	3: 139,023,238 (GRCm39)	K418R	probably benign	Het
Tasor2	T	C	13: 3,640,538 (GRCm39)	I200V	probably benign	Het
Tmem19	A	G	10: 115,195,675 (GRCm39)		probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tmod1	T	C	4: 46,097,026 (GRCm39)	V273A	probably benign	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Uggt1	A	T	1: 36,221,588 (GRCm39)	L43*	probably null	Het
Vmn1r205	A	T	13: 22,776,671 (GRCm39)	F144I	probably damaging	Het
Vmn2r54	G	A	7: 12,366,223 (GRCm39)	T237I	probably benign	Het
Vmn2r7	A	T	3: 64,632,412 (GRCm39)	F17I	possibly damaging	Het
Vpreb3	G	A	10: 75,779,125 (GRCm39)		probably null	Het
Vps13d	T	A	4: 144,842,218 (GRCm39)		probably benign	Het
Zkscan5	A	T	5: 145,157,723 (GRCm39)	R742W	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
R3032:Psg18	UTSW	7	18,084,904 (GRCm39)	missense	probably benign	0.01
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
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'- AGAGATTCCTGCTGCTGAGC -3'
(R):5'- TGGAAGTGACTGAGCACTTCTATG -3'

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

Posted On

2015-03-18