Mutagenetix > Incidental Mutations

Incidental Mutation 'R1234:Psg18'

152383

Institutional Source

Beutler Lab

Gene Symbol

Psg18

Ensembl Gene

ENSMUSG00000003505

Gene Name

pregnancy specific glycoprotein 18

Synonyms

Cea-3, Cea3, mmCGM6

MMRRC Submission

039302-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R1234 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18345422-18355009 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18349190 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 347 (S347T)

Ref Sequence

ENSEMBL: ENSMUSP00000003597 (fasta)

Gene Model

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

AlphaFold

B2RSG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000003597
AA Change: S347T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: S347T

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 damaging
Transcript: ENSMUST00000098783
AA Change: S226T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505
AA Change: S226T

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030419C18Rik	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	9: 58,499,432		probably benign	Het
Cd300e	T	A	11: 115,055,366	I90F	probably damaging	Het
Cyr61	A	G	3: 145,649,839		probably benign	Het
Dclk1	T	C	3: 55,489,877	I528T	probably damaging	Het
Dnajc13	T	C	9: 104,214,157	N645S	possibly damaging	Het
Efhb	A	T	17: 53,451,587	Y340*	probably null	Het
Fhod1	T	C	8: 105,337,163		probably benign	Het
Hk2	G	A	6: 82,760,248	H28Y	possibly damaging	Het
Hmcn1	G	A	1: 150,753,654	R951*	probably null	Het
Mapkapk2	G	A	1: 131,055,776	R334*	probably null	Het
Nckap1	C	T	2: 80,517,942	S889N	probably benign	Het
Ptk6	C	T	2: 181,202,440	R22Q	possibly damaging	Het
Samd4b	C	T	7: 28,414,010	G177R	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Ssrp1	T	C	2: 85,042,263	F415S	probably damaging	Het
Stab1	A	G	14: 31,150,236	L1198P	probably damaging	Het
Tcf23	T	C	5: 30,970,222	Y123H	probably damaging	Het
Vars2	T	C	17: 35,667,146	N43S	probably damaging	Het
Vmn2r79	A	T	7: 87,004,099	E524V	possibly damaging	Het
Xrcc1	T	C	7: 24,567,845	V373A	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
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
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'- CAGCAAGTGCCCAAATACCAATGTG -3'
(R):5'- AGAATGCAGGTCACCATCTTTCCAC -3'

Sequencing Primer
(F):5'- TACCAATGTGATGAAAAATGCAGTG -3'
(R):5'- ATTGATCCAGTGCCACGG -3'

Posted On

2014-01-29