Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01767:Psg18'

153329

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psg18

Ensembl Gene

ENSMUSG00000003505

Gene Name

pregnancy specific glycoprotein 18

Synonyms

Cea-3, Cea3, mmCGM6

Accession Numbers

Essential gene?

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

Stock #

IGL01767

Quality Score

Status

Chromosome

Chromosomal Location

18345422-18355009 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18353397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 112 (V112A)

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: V112A

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: V112A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,041,363	V4505A	probably benign	Het
Aadat	A	T	8: 60,507,092	D31V	probably damaging	Het
Acaca	A	T	11: 84,320,542	Y1560F	probably benign	Het
Actl7a	A	G	4: 56,743,980	E169G	probably damaging	Het
Adgrb3	A	G	1: 25,559,814	V270A	probably benign	Het
Adgre4	G	A	17: 55,797,740	V269I	probably benign	Het
Ankhd1	A	G	18: 36,648,374	T2160A	probably damaging	Het
Bnip2	T	A	9: 70,002,116		probably benign	Het
Casp16-ps	A	G	17: 23,552,053	V126A	probably damaging	Het
Ccser1	C	A	6: 61,718,152	T157K	probably benign	Het
Cdh23	A	G	10: 60,315,724	S2459P	probably damaging	Het
Cdk5rap3	A	T	11: 96,913,465	C21S	probably damaging	Het
Chmp6	G	A	11: 119,916,986	E72K	probably benign	Het
Cldn23	T	C	8: 35,825,662	Y224C	probably damaging	Het
Cry1	C	T	10: 85,146,474	G336D	probably damaging	Het
Cyp4f17	T	A	17: 32,506,982	F30I	probably benign	Het
Dgcr8	T	A	16: 18,278,336	D496V	probably damaging	Het
Dhx9	A	G	1: 153,468,868		probably benign	Het
Dnah10	C	T	5: 124,743,737		probably benign	Het
Dock9	T	C	14: 121,622,870	E880G	possibly damaging	Het
Dscam	A	G	16: 96,654,936	V1264A	probably damaging	Het
Eno1	T	C	4: 150,246,710	Y270H	probably benign	Het
Eprs	A	G	1: 185,384,915	D385G	probably damaging	Het
Ercc2	A	G	7: 19,390,421	Y215C	probably damaging	Het
Fam208b	G	A	13: 3,576,633	P1106S	probably benign	Het
Fscn2	A	G	11: 120,367,750	N400S	possibly damaging	Het
Fuca1	C	T	4: 135,939,201	T449I	probably benign	Het
Gm43638	T	C	5: 87,465,431	K492E	probably damaging	Het
Gm4778	T	A	3: 94,266,484	D262E	probably benign	Het
Gm5263	T	G	1: 146,420,564		noncoding transcript	Het
Gm8122	T	C	14: 43,232,701	T111A	unknown	Het
Gtf3c2	T	A	5: 31,157,635	N923Y	probably benign	Het
Il17a	T	A	1: 20,733,640	D86E	probably benign	Het
Itgb2l	G	T	16: 96,430,575	N330K	probably benign	Het
Kcnj11	T	C	7: 46,099,065	H278R	probably benign	Het
Khdrbs2	T	A	1: 32,619,176	Y272*	probably null	Het
Kndc1	A	T	7: 139,930,046	Q1267L	probably damaging	Het
Loxhd1	T	A	18: 77,286,424	F64I	possibly damaging	Het
Lrig2	T	A	3: 104,491,545	K222N	probably benign	Het
Lrrcc1	T	A	3: 14,547,272	Y378N	probably damaging	Het
Mblac2	T	C	13: 81,750,315	L270P	probably damaging	Het
Med13	A	T	11: 86,319,783	I511N	probably benign	Het
Myo3a	A	T	2: 22,423,222	E763D	probably damaging	Het
Olfr1240	C	T	2: 89,439,800	V160I	probably benign	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr1447	T	A	19: 12,901,748	T11S	probably benign	Het
Olfr384	T	A	11: 73,603,032	F151I	probably benign	Het
Olfr845	G	A	9: 19,339,302	V281I	possibly damaging	Het
Plxna4	T	A	6: 32,237,678	I623F	possibly damaging	Het
Ppp2ca	T	A	11: 52,118,055	Y127*	probably null	Het
Ptprj	A	T	2: 90,469,574	N108K	probably benign	Het
Rictor	A	G	15: 6,777,384	Y707C	probably damaging	Het
Rptn	T	C	3: 93,395,639	F93S	probably benign	Het
Rxrg	T	A	1: 167,627,315	C156S	probably damaging	Het
Slc24a4	T	C	12: 102,223,687		probably benign	Het
Slc25a27	C	T	17: 43,664,073		probably null	Het
Slx4	T	C	16: 3,990,248	K481E	probably benign	Het
Snx19	T	C	9: 30,463,264	W940R	possibly damaging	Het
Tcf20	G	A	15: 82,856,008	P414L	probably damaging	Het
Treml2	T	C	17: 48,302,810	V90A	probably benign	Het
Uckl1	C	T	2: 181,569,534	V501M	probably damaging	Het
Unc79	C	T	12: 103,141,997	T1937I	probably damaging	Het
Vmn2r17	A	T	5: 109,420,037	I9F	probably benign	Het
Vmn2r44	T	C	7: 8,380,238	H119R	probably benign	Het
Vmn2r78	A	G	7: 86,954,435	D607G	probably benign	Het
Vps13a	C	T	19: 16,663,894	G2288D	probably damaging	Het
Znfx1	G	T	2: 167,055,723	T427N	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
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
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

Posted On

2014-02-04