Mutagenetix > Incidental Mutation

Incidental Mutation 'R4846:Psg18'

372163

Institutional Source

Beutler Lab

Gene Symbol

Psg18

Ensembl Gene

ENSMUSG00000003505

Gene Name

pregnancy specific glycoprotein 18

Synonyms

Cea-3, Cea3, mmCGM6

MMRRC Submission

042459-MU

Accession Numbers

Essential gene?

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

Stock #

R4846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18345422-18355009 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 18350786 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 128 (Y128*)

Ref Sequence

ENSEMBL: ENSMUSP00000096380 (fasta)

Gene Model

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

AlphaFold

B2RSG7

Predicted Effect

probably null
Transcript: ENSMUST00000003597
AA Change: Y249*

SMART Domains

Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: Y249*

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 null
Transcript: ENSMUST00000098783
AA Change: Y128*

SMART Domains

Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505
AA Change: Y128*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,233	D591G	probably benign	Het
9930012K11Rik	T	A	14: 70,155,943	H299L	probably damaging	Het
Abcb4	C	T	5: 8,935,180	A687V	probably benign	Het
Adam20	A	G	8: 40,795,011	T53A	probably benign	Het
Afg1l	G	A	10: 42,454,494	T59I	probably benign	Het
AI837181	A	G	19: 5,426,301	Q164R	probably benign	Het
Anapc15	T	A	7: 101,897,767	I12N	probably benign	Het
Ankrd55	A	C	13: 112,363,454	E278D	probably benign	Het
Axin2	A	G	11: 108,942,299	T437A	probably benign	Het
BC051665	T	C	13: 60,784,081	D168G	probably damaging	Het
Btbd11	A	G	10: 85,629,266	T657A	probably damaging	Het
Cd200	C	T	16: 45,392,301	R261H	probably benign	Het
Clk1	G	A	1: 58,421,102	S123L	probably benign	Het
Csrnp2	A	T	15: 100,484,690	D156E	probably damaging	Het
Ctss	C	T	3: 95,545,384	Q159*	probably null	Het
Dip2a	A	G	10: 76,321,493	S93P	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Ephb6	G	A	6: 41,616,809	R542Q	probably benign	Het
Fmo3	T	C	1: 162,954,311	D491G	possibly damaging	Het
Galnt14	A	T	17: 73,536,893	M140K	probably benign	Het
Ghsr	T	C	3: 27,371,837	V14A	probably benign	Het
Gm17546	C	A	15: 95,829,962		probably benign	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
Hc	A	G	2: 35,019,670	V866A	probably benign	Het
Hoxb6	G	A	11: 96,299,522	G116R	probably damaging	Het
Hykk	A	G	9: 54,920,606	Y43C	probably damaging	Het
Jade2	T	C	11: 51,821,148	T495A	probably benign	Het
Kansl1	A	T	11: 104,342,972	V755E	possibly damaging	Het
Lrp2	T	A	2: 69,479,113	D2814V	probably damaging	Het
Mbd5	T	A	2: 49,256,997	N406K	probably damaging	Het
Met	A	T	6: 17,491,929	D230V	probably damaging	Het
Mrgprx2	A	T	7: 48,482,836	V78D	probably damaging	Het
Mrpl20	A	G	4: 155,808,536	T112A	possibly damaging	Het
Nek11	T	A	9: 105,163,163	E566D	probably damaging	Het
Nostrin	T	C	2: 69,175,579	S235P	probably damaging	Het
Npas4	C	A	19: 4,986,777	S453I	probably benign	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Ptges3l	A	T	11: 101,419,184		probably benign	Het
Pus1	T	C	5: 110,779,930		probably benign	Het
Raf1	T	A	6: 115,644,583	S12C	possibly damaging	Het
Rps6-ps2	T	G	8: 88,806,578		noncoding transcript	Het
Slc5a4b	A	G	10: 76,062,239	L547P	probably damaging	Het
Socs3	A	G	11: 117,967,828	S135P	probably benign	Het
St5	C	A	7: 109,556,836	E236*	probably null	Het
Stra6l	G	A	4: 45,873,682	V281M	possibly damaging	Het
Suco	G	A	1: 161,834,408	T818I	possibly damaging	Het
Syde1	A	T	10: 78,588,897	V367D	probably damaging	Het
Tet3	A	T	6: 83,376,883	L932*	probably null	Het
Trpm7	G	A	2: 126,813,185	L1278F	possibly damaging	Het
Vmn1r168	A	T	7: 23,541,065	T116S	probably damaging	Het
Wfdc6b	A	G	2: 164,617,294	Q92R	possibly 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
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
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
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'- GAGTCTGACCCATGGACATTTC -3'
(R):5'- CGCTTTTCTGGTACAAAGGG -3'

Sequencing Primer
(F):5'- CCTACATGTGTGTCCTGCATAGAG -3'
(R):5'- CTGGTACAAAGGGCTGATTGC -3'

Posted On

2016-03-01