Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4466001:Psg18'

555780

Institutional Source

Beutler Lab

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 #

PIT4466001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18345422-18355009 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 18349316 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 305 (T305P)

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: T305P

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: T305P

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

possibly damaging
Transcript: ENSMUST00000098783
AA Change: T184P

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505
AA Change: T184P

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

Predicted Effect

Coding Region Coverage

1x: 93.5%
3x: 90.9%
10x: 85.1%
20x: 72.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	C	A	9: 99,620,560	P258T	probably damaging	Het
Adamts1	C	A	16: 85,796,691	G719*	probably null	Het
Ano5	G	T	7: 51,544,851	D111Y	probably damaging	Het
Arvcf	T	C	16: 18,402,949	V714A	possibly damaging	Het
AU021092	T	A	16: 5,220,389	S85C	probably damaging	Het
C87414	A	C	5: 93,636,288	L439R	probably damaging	Het
Capn5	T	C	7: 98,123,988	D603G	probably benign	Het
Cbr1	T	A	16: 93,609,804	V136E	probably damaging	Het
Ccdc27	T	C	4: 154,041,727	M102V	unknown	Het
Ccr1	T	C	9: 123,963,728	Y255C	probably damaging	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 61,184,524		probably benign	Het
Cep112	A	G	11: 108,519,896	T553A	probably benign	Het
Chd7	C	T	4: 8,753,101	L533F	unknown	Het
Cntnap1	T	C	11: 101,177,305	F48L	probably benign	Het
Cyb5r3	T	C	15: 83,161,863	D84G	probably damaging	Het
Ddx47	T	C	6: 135,015,840	I154T	probably benign	Het
Dnah6	A	G	6: 73,208,641	L99P	probably benign	Het
Dzank1	A	G	2: 144,483,373	I558T	probably benign	Het
Fbn1	T	C	2: 125,306,501	D2609G	possibly damaging	Het
Fhl5	C	A	4: 25,211,194	C166F	probably damaging	Het
Fndc1	A	G	17: 7,750,374	L1553P	probably damaging	Het
Frem1	G	A	4: 82,972,137	T1035I	probably benign	Het
Gm3099	A	G	14: 4,000,549	M128V	probably benign	Het
Gpaa1	C	T	15: 76,334,740	T594I	probably benign	Het
Hck	C	T	2: 153,124,271	T55M	probably damaging	Het
Hectd4	T	C	5: 121,333,060		probably null	Het
Ica1l	C	T	1: 60,015,836		probably null	Het
Ilf3	T	C	9: 21,403,366	Y765H	unknown	Het
Mast4	G	A	13: 102,804,718	T277M	probably damaging	Het
Mfsd6	T	C	1: 52,708,897	T270A	probably benign	Het
Mib1	G	A	18: 10,775,541	D498N	probably benign	Het
Naaladl1	A	T	19: 6,114,633	T576S	possibly damaging	Het
Ncoa6	A	T	2: 155,405,657	I1909N	probably benign	Het
Negr1	A	G	3: 156,859,598	D107G	probably benign	Het
Nlrc4	A	G	17: 74,427,119	M933T	probably benign	Het
Nmnat3	T	G	9: 98,410,253	F184V	probably benign	Het
Olfr1271	A	T	2: 90,266,295	V45E	probably damaging	Het
Olfr510	T	C	7: 108,667,536	V40A	possibly damaging	Het
Olfr8	C	A	10: 78,955,842	F212L	probably benign	Het
Olfr809	C	T	10: 129,776,273	R120C	probably benign	Het
Pfkfb4	T	C	9: 108,999,154	Y86H	probably benign	Het
Pgm5	T	G	19: 24,824,329	Q178H	probably damaging	Het
Phrf1	C	T	7: 141,258,812	T640M	unknown	Het
Skil	T	A	3: 31,098,232	V301D	probably damaging	Het
Slc36a1	C	A	11: 55,219,069	P68T	probably damaging	Het
Smim6	T	C	11: 115,913,545	F53L	probably benign	Het
St5	G	A	7: 109,531,130	A888V	probably damaging	Het
Tpgs2	G	A	18: 25,168,595	T5M	possibly damaging	Het
Trrap	T	A	5: 144,828,600	V2523D	probably benign	Het
Usp9y	A	T	Y: 1,432,197	D429E	probably damaging	Het
Vmn1r125	A	G	7: 21,272,893	T239A	probably benign	Het
Vmn1r168	T	C	7: 23,540,996	F93L	probably damaging	Het
Vmn1r88	A	G	7: 13,178,476	N253S	possibly damaging	Het
Zfp644	C	T	5: 106,636,477	A735T	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTGTTACAACTCTCACATTGC -3'
(R):5'- GCAGGTCACCATCTTTCCAC -3'

Sequencing Primer
(F):5'- GTTATTAGTGTGTATAAGCCAGAGTC -3'
(R):5'- ACCTAGCACAATGATCCCTTCTG -3'

Posted On

2019-06-07