Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02744:Psg18'

305997

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

Is this an essential gene?

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

Stock #

IGL02744

Quality Score

Status

Chromosome

Chromosomal Location

18345422-18355009 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18349402 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 276 (Q276L)

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: Q276L

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: Q276L

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
AA Change: Q155L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505
AA Change: Q155L

Domain	Start	End	E-Value	Type
IG	40	141	1.03e0	SMART
IG	160	259	2.15e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000182983
AA Change: Q7L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183222

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930564D02Rik	A	G	3: 105,078,536	M89V	unknown	Het
Actl11	C	A	9: 107,929,862	H461Q	probably benign	Het
Aox4	A	T	1: 58,255,552	R973S	possibly damaging	Het
Arhgef10	C	T	8: 14,930,198	A146V	probably benign	Het
Cep350	A	T	1: 155,931,533	S713T	probably damaging	Het
Doxl2	A	G	6: 48,975,315	E58G	probably benign	Het
Epha5	T	C	5: 84,107,989	I458V	probably benign	Het
Galnt17	A	G	5: 131,111,775	I168T	probably damaging	Het
Gli3	T	C	13: 15,613,886		probably null	Het
Gm11110	T	A	17: 57,092,693		probably benign	Het
Gm8206	T	C	14: 6,022,488	I4V	possibly damaging	Het
Gm8906	C	T	5: 11,505,373	T103I	possibly damaging	Het
Golga1	A	G	2: 39,018,474	S713P	probably damaging	Het
Ing5	T	C	1: 93,816,488	M172T	probably damaging	Het
Lyn	A	G	4: 3,738,808	T27A	probably benign	Het
Olfr1367	A	G	13: 21,346,994	Y22C	probably damaging	Het
Pou5f1	T	C	17: 35,509,414	V40A	probably damaging	Het
Pramef12	A	T	4: 144,392,923	L358Q	probably damaging	Het
Prdm16	A	G	4: 154,345,453	L353P	probably damaging	Het
Ralgapb	A	C	2: 158,446,151	Q369H	probably damaging	Het
Slc44a4	A	G	17: 34,927,800	N300D	probably damaging	Het
Slc6a15	A	T	10: 103,418,033	E610V	probably benign	Het
Slc8a2	T	C	7: 16,145,029	V480A	possibly damaging	Het
Spg7	T	C	8: 123,093,661	F617S	probably damaging	Het
Srcap	A	G	7: 127,534,666	D863G	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Suox	T	C	10: 128,671,217	E314G	probably benign	Het
Tln2	T	A	9: 67,229,376	K1276*	probably null	Het
Tmem72	A	G	6: 116,695,490	L130P	probably damaging	Het
Ttll1	T	C	15: 83,489,577	Y345C	probably benign	Het
Ush2a	A	T	1: 188,358,717		probably null	Het
Xpo6	G	A	7: 126,108,448		probably benign	Het
Zc3h14	A	T	12: 98,784,975	Y512F	possibly damaging	Het
Zfp438	A	T	18: 5,214,760	M66K	probably benign	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
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
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

2015-04-16