Mutagenetix > Incidental Mutation

Incidental Mutation 'R0331:Psg18'

26051

Institutional Source

Beutler Lab

Gene Symbol

Psg18

Ensembl Gene

ENSMUSG00000003505

Gene Name

pregnancy specific glycoprotein 18

Synonyms

Cea-3, Cea3, mmCGM6

MMRRC Submission

038540-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R0331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18345422-18355009 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18353308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 142 (Y142H)

Ref Sequence

ENSEMBL: ENSMUSP00000003597 (fasta)

Gene Model

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

AlphaFold

B2RSG7

Predicted Effect

probably benign
Transcript: ENSMUST00000003597
AA Change: Y142H

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: Y142H

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

Meta Mutation Damage Score

0.1110

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (81/81)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	A	8: 79,229,392 (GRCm38)	T79S	probably benign	Het
Abtb1	T	C	6: 88,840,702 (GRCm38)		probably benign	Het
Acot12	G	A	13: 91,760,064 (GRCm38)		probably null	Het
Adamts4	T	A	1: 171,250,972 (GRCm38)	S54T	probably benign	Het
Adgrl4	T	C	3: 151,497,940 (GRCm38)	S96P	probably benign	Het
Aip	G	T	19: 4,118,247 (GRCm38)	T40K	probably damaging	Het
Anapc4	A	G	5: 52,855,642 (GRCm38)		probably benign	Het
Asz1	A	G	6: 18,103,619 (GRCm38)		probably benign	Het
Atf7ip	A	G	6: 136,561,163 (GRCm38)	T465A	possibly damaging	Het
Atp11a	C	T	8: 12,816,953 (GRCm38)	Q127*	probably null	Het
Axin1	A	G	17: 26,143,107 (GRCm38)	R142G	probably damaging	Het
B230359F08Rik	A	G	14: 53,795,748 (GRCm38)	N38S	probably benign	Het
Bcat1	T	A	6: 145,047,314 (GRCm38)	E86V	probably benign	Het
Brd4	G	A	17: 32,202,515 (GRCm38)	P749L	probably benign	Het
C1ra	G	A	6: 124,519,435 (GRCm38)		probably null	Het
Capza2	A	T	6: 17,665,103 (GRCm38)	N237I	probably benign	Het
Cd2ap	A	T	17: 42,805,301 (GRCm38)	V556E	probably benign	Het
Cfap65	G	A	1: 74,929,301 (GRCm38)	P124L	probably damaging	Het
Cfap65	G	T	1: 74,929,302 (GRCm38)	P124T	probably damaging	Het
Cftr	T	C	6: 18,235,226 (GRCm38)	V488A	possibly damaging	Het
Ckmt1	A	T	2: 121,362,856 (GRCm38)		probably null	Het
Cmya5	T	G	13: 93,144,403 (GRCm38)	E35A	possibly damaging	Het
Col7a1	A	G	9: 108,967,502 (GRCm38)		probably benign	Het
Crmp1	C	T	5: 37,265,313 (GRCm38)	L155F	possibly damaging	Het
Cyp2d10	T	A	15: 82,407,026 (GRCm38)	T33S	probably benign	Het
Dhdh	T	C	7: 45,488,120 (GRCm38)	K48E	probably benign	Het
Dlst	T	C	12: 85,118,812 (GRCm38)	V103A	probably damaging	Het
Dohh	C	T	10: 81,387,812 (GRCm38)	T233I	probably benign	Het
Dvl2	C	A	11: 70,006,217 (GRCm38)		probably benign	Het
Eipr1	C	T	12: 28,864,704 (GRCm38)	Q286*	probably null	Het
Enpp6	C	A	8: 47,082,449 (GRCm38)	T343K	probably damaging	Het
Fbxw11	T	A	11: 32,711,895 (GRCm38)	F112I	probably damaging	Het
Gdpd4	T	A	7: 97,973,008 (GRCm38)	N231K	probably benign	Het
Gm6370	A	T	5: 146,493,766 (GRCm38)	T254S	probably benign	Het
Hapln4	G	T	8: 70,084,509 (GRCm38)	Q31H	probably damaging	Het
Hic1	T	A	11: 75,165,490 (GRCm38)	T858S	possibly damaging	Het
Isg20l2	T	C	3: 87,931,785 (GRCm38)	L101P	probably damaging	Het
Itga10	T	C	3: 96,652,483 (GRCm38)	Y485H	probably damaging	Het
Itgal	T	A	7: 127,306,681 (GRCm38)		probably null	Het
Itln1	T	C	1: 171,531,549 (GRCm38)	N62S	probably damaging	Het
Kdm4b	T	C	17: 56,386,289 (GRCm38)		probably benign	Het
Lct	T	C	1: 128,298,742 (GRCm38)		probably benign	Het
Lman2	A	T	13: 55,353,016 (GRCm38)	H123Q	probably damaging	Het
Lztr1	T	A	16: 17,524,237 (GRCm38)		probably benign	Het
Myo3b	G	T	2: 70,095,261 (GRCm38)	G24V	probably damaging	Het
Nacad	T	A	11: 6,599,441 (GRCm38)	Q1250L	possibly damaging	Het
Ncor2	A	T	5: 125,084,917 (GRCm38)	M431K	unknown	Het
Nek9	T	A	12: 85,327,375 (GRCm38)		probably benign	Het
Neu1	C	A	17: 34,934,170 (GRCm38)	N255K	possibly damaging	Het
Nf2	T	A	11: 4,794,914 (GRCm38)	T75S	probably benign	Het
Nipal4	T	A	11: 46,150,213 (GRCm38)	D385V	probably damaging	Het
Olah	T	A	2: 3,342,474 (GRCm38)	N245I	probably damaging	Het
Olfr474	G	T	7: 107,954,870 (GRCm38)	L76F	probably benign	Het
Pag1	T	A	3: 9,701,970 (GRCm38)	T90S	probably benign	Het
Pald1	A	G	10: 61,340,929 (GRCm38)		probably null	Het
Parva	A	G	7: 112,544,798 (GRCm38)	M98V	probably benign	Het
Paxbp1	T	A	16: 91,037,367 (GRCm38)	D177V	possibly damaging	Het
Paxip1	A	G	5: 27,765,232 (GRCm38)	I587T	probably damaging	Het
Pclo	T	C	5: 14,680,376 (GRCm38)		probably benign	Het
Pdgfra	T	A	5: 75,195,052 (GRCm38)	D1074E	probably damaging	Het
Pef1	A	T	4: 130,127,448 (GRCm38)	D265V	probably damaging	Het
Plekhh2	G	A	17: 84,586,366 (GRCm38)	E870K	possibly damaging	Het
Plscr4	G	A	9: 92,482,642 (GRCm38)	G40D	probably damaging	Het
Ptchd3	A	T	11: 121,842,191 (GRCm38)	M636L	probably benign	Het
Rab2a	A	G	4: 8,572,559 (GRCm38)	D51G	probably benign	Het
Rnf139	T	A	15: 58,899,906 (GRCm38)	D593E	probably benign	Het
Sept7	A	G	9: 25,306,256 (GRCm38)	N422S	probably benign	Het
Shprh	T	C	10: 11,194,170 (GRCm38)		probably benign	Het
Slc7a6os	A	G	8: 106,210,567 (GRCm38)	I87T	probably damaging	Het
Slc7a7	A	G	14: 54,377,924 (GRCm38)		probably benign	Het
Spc24	G	T	9: 21,757,313 (GRCm38)	N129K	possibly damaging	Het
Strip2	C	T	6: 29,926,560 (GRCm38)	T148I	probably benign	Het
Tmem150c	A	C	5: 100,086,273 (GRCm38)		probably null	Het
Ttn	G	T	2: 76,811,020 (GRCm38)	Y11801*	probably null	Het
Usp37	A	T	1: 74,454,064 (GRCm38)	L688*	probably null	Het
Usp38	T	C	8: 80,995,840 (GRCm38)	I351V	probably benign	Het
Vav2	T	A	2: 27,296,175 (GRCm38)	M223L	probably benign	Het
Wdr36	A	G	18: 32,852,915 (GRCm38)	I557M	possibly damaging	Het
Wwc2	A	T	8: 47,880,204 (GRCm38)	M259K	probably benign	Het
Znfx1	G	A	2: 167,046,978 (GRCm38)	S770L	probably benign	Het

Other mutations in Psg18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01458:Psg18	APN	7	18,354,816 (GRCm38)	start codon destroyed	probably null	0.99
IGL01748:Psg18	APN	7	18,353,551 (GRCm38)	missense	probably benign	0.05
IGL01767:Psg18	APN	7	18,353,397 (GRCm38)	missense	possibly damaging	0.80
IGL02727:Psg18	APN	7	18,345,950 (GRCm38)	missense	probably damaging	1.00
IGL02744:Psg18	APN	7	18,349,402 (GRCm38)	missense	probably benign	0.38
G1Funyon:Psg18	UTSW	7	18,353,377 (GRCm38)	missense	probably damaging	0.99
PIT4466001:Psg18	UTSW	7	18,349,316 (GRCm38)	missense	probably benign	0.30
R1077:Psg18	UTSW	7	18,351,075 (GRCm38)	missense	possibly damaging	0.84
R1171:Psg18	UTSW	7	18,346,079 (GRCm38)	missense	probably benign	0.10
R1173:Psg18	UTSW	7	18,354,817 (GRCm38)	start codon destroyed	probably null	0.97
R1234:Psg18	UTSW	7	18,349,190 (GRCm38)	missense	probably damaging	1.00
R1553:Psg18	UTSW	7	18,353,481 (GRCm38)	missense	probably benign	0.19
R1632:Psg18	UTSW	7	18,350,899 (GRCm38)	missense	probably benign	0.02
R2108:Psg18	UTSW	7	18,350,874 (GRCm38)	missense	probably damaging	1.00
R2439:Psg18	UTSW	7	18,346,119 (GRCm38)	missense	probably benign	0.24
R3032:Psg18	UTSW	7	18,350,979 (GRCm38)	missense	probably benign	0.01
R3053:Psg18	UTSW	7	18,349,193 (GRCm38)	missense	probably damaging	1.00
R3432:Psg18	UTSW	7	18,349,171 (GRCm38)	missense	possibly damaging	0.61
R3725:Psg18	UTSW	7	18,354,823 (GRCm38)	start gained	probably benign
R4479:Psg18	UTSW	7	18,350,862 (GRCm38)	missense	probably benign	0.01
R4480:Psg18	UTSW	7	18,350,862 (GRCm38)	missense	probably benign	0.01
R4846:Psg18	UTSW	7	18,350,786 (GRCm38)	nonsense	probably null
R4858:Psg18	UTSW	7	18,353,484 (GRCm38)	missense	possibly damaging	0.49
R5010:Psg18	UTSW	7	18,349,354 (GRCm38)	missense	probably damaging	1.00
R5225:Psg18	UTSW	7	18,345,949 (GRCm38)	missense	probably damaging	1.00
R5450:Psg18	UTSW	7	18,353,425 (GRCm38)	missense	probably benign	0.32
R5526:Psg18	UTSW	7	18,349,348 (GRCm38)	missense	probably damaging	1.00
R5840:Psg18	UTSW	7	18,346,602 (GRCm38)	intron	probably benign
R6409:Psg18	UTSW	7	18,353,521 (GRCm38)	missense	probably benign
R7164:Psg18	UTSW	7	18,350,937 (GRCm38)	missense	possibly damaging	0.89
R7276:Psg18	UTSW	7	18,345,984 (GRCm38)	missense	probably damaging	0.99
R7768:Psg18	UTSW	7	18,346,028 (GRCm38)	missense	probably damaging	1.00
R8301:Psg18	UTSW	7	18,353,377 (GRCm38)	missense	probably damaging	0.99
R8700:Psg18	UTSW	7	18,353,625 (GRCm38)	missense	probably damaging	1.00
R8982:Psg18	UTSW	7	18,349,375 (GRCm38)	missense	probably benign	0.20
R9042:Psg18	UTSW	7	18,349,122 (GRCm38)	missense	probably benign	0.44
R9054:Psg18	UTSW	7	18,353,525 (GRCm38)	missense	possibly damaging	0.82
R9442:Psg18	UTSW	7	18,349,260 (GRCm38)	nonsense	probably null
R9538:Psg18	UTSW	7	18,350,788 (GRCm38)	missense	probably benign	0.01
R9689:Psg18	UTSW	7	18,350,955 (GRCm38)	missense	probably benign	0.00
Z1176:Psg18	UTSW	7	18,354,787 (GRCm38)	missense	probably benign	0.07
Z1177:Psg18	UTSW	7	18,349,198 (GRCm38)	missense	probably benign	0.10
Z1177:Psg18	UTSW	7	18,349,115 (GRCm38)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- AGGATGTTTCCCTATGAAGGACCCC -3'
(R):5'- CCACTGCCAGAGTCACCATTGAATC -3'

Sequencing Primer
(F):5'- TCTAGACAGAGGCTGATGTCC -3'
(R):5'- GCACAGCATTGGCTGTACTAC -3'

Posted On

2013-04-16