Mutagenetix > Incidental Mutations

Incidental Mutation 'R6409:Psg18'

514777

Institutional Source

Beutler Lab

Gene Symbol

Psg18

Ensembl Gene

ENSMUSG00000003505

Gene Name

pregnancy specific glycoprotein 18

Synonyms

Cea-3, Cea3, mmCGM6

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R6409 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18345422-18355009 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18353521 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 71 (M71V)

Ref Sequence

ENSEMBL: ENSMUSP00000003597 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000003597
AA Change: M71V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: M71V

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

97% (32/33)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	G	A	7: 131,262,071		probably benign	Het
Aatk	G	T	11: 120,011,732	Q556K	probably benign	Het
Adgrf3	A	G	5: 30,197,314	V572A	probably damaging	Het
Ahnak	G	A	19: 9,009,574	V2741M	probably benign	Het
Ascc3	T	C	10: 50,845,580	V2043A	probably benign	Het
B3glct	C	T	5: 149,735,451	R239C	probably benign	Het
Cacna2d4	T	A	6: 119,282,228	V626E	probably damaging	Het
Cfap54	T	C	10: 92,967,492	N1563D	probably benign	Het
Duox2	G	C	2: 122,284,667	H1110D	probably damaging	Het
Gm12794	C	T	4: 101,940,677	Q91*	probably null	Het
Inppl1	A	T	7: 101,828,961	F648I	probably damaging	Het
Mefv	C	A	16: 3,710,793		probably null	Het
Ms4a4b	T	C	19: 11,461,360		probably null	Het
Mtus2	T	C	5: 148,077,615	V406A	probably benign	Het
Nup88	T	C	11: 70,944,972	R554G	probably null	Het
Olfr1098	A	T	2: 86,923,171	Y120*	probably null	Het
Olfr1425	C	T	19: 12,074,747		probably benign	Het
Olfr54	A	G	11: 51,027,188	Y62C	probably damaging	Het
Pde10a	A	G	17: 8,949,438	D246G	probably damaging	Het
Pmm1	T	C	15: 81,960,807	T9A	probably benign	Het
Rapgef4	A	G	2: 72,178,237	H253R	probably benign	Het
Rfc4	T	C	16: 23,114,073	*371W	probably null	Het
Rgs18	T	A	1: 144,775,193	K17*	probably null	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Sertm1	T	C	3: 54,899,367	Y79C	probably benign	Het
Sfrp1	T	C	8: 23,417,378	I198T	possibly damaging	Het
Slc15a2	T	A	16: 36,761,870	I254F	probably benign	Het
Slc29a4	A	G	5: 142,712,071	D93G	probably damaging	Het
Smo	T	C	6: 29,736,114	L35S	unknown	Het
Tbc1d8	A	G	1: 39,372,588	S1056P	probably benign	Het
Ttll9	A	G	2: 152,999,341	D286G	probably damaging	Het
Vmn2r14	A	G	5: 109,216,230	Y607H	probably benign	Het
Vps8	T	A	16: 21,478,439	C564S	probably benign	Het
Zc3h12d	A	G	10: 7,867,318	H284R	probably benign	Het
Zfp106	A	T	2: 120,532,104	S79T	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
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
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
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'- TACACGTGCAAGTACAGGGATG -3'
(R):5'- ACCTGCTCATTATTGGTGGC -3'

Sequencing Primer
(F):5'- CACGTGCAAGTACAGGGATGTATTTG -3'
(R):5'- GCTCATTATTGGTGGCTTCTC -3'

Posted On

2018-05-04