Mutagenetix > Incidental Mutations

Incidental Mutation 'R5526:Psg18'

431850

Institutional Source

Beutler Lab

Gene Symbol

Psg18

Ensembl Gene

ENSMUSG00000003505

Gene Name

pregnancy specific glycoprotein 18

Synonyms

Cea-3, Cea3, mmCGM6

MMRRC Submission

043084-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5526 (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 18349348 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 173 (L173H)

Ref Sequence

ENSEMBL: ENSMUSP00000096380 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000003597
AA Change: L294H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: L294H

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: L173H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505
AA Change: L173H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182983
AA Change: L25H

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183222

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,972,125	V486A	possibly damaging	Het
Abca12	A	T	1: 71,292,446	M1315K	probably benign	Het
Abcc4	C	T	14: 118,631,037	V168I	probably benign	Het
Add3	T	A	19: 53,226,607	L71Q	probably damaging	Het
Agbl5	G	A	5: 30,893,903		probably null	Het
Angpt1	A	G	15: 42,512,341	L173P	probably damaging	Het
BC067074	T	C	13: 113,367,893	V1852A	probably benign	Het
Crls1	T	A	2: 132,861,245	M205K	possibly damaging	Het
Dhtkd1	A	T	2: 5,911,851	N671K	probably damaging	Het
Dmbt1	A	T	7: 131,041,190	D246V	probably damaging	Het
Dolk	G	A	2: 30,285,808	A75V	probably damaging	Het
Dtna	T	A	18: 23,646,230	V623E	probably damaging	Het
Elavl3	T	C	9: 22,036,326	T106A	probably benign	Het
Ergic1	T	C	17: 26,624,678	C41R	probably damaging	Het
Fat2	T	A	11: 55,269,361	I3309F	possibly damaging	Het
Fbn1	C	A	2: 125,365,639	R978L	possibly damaging	Het
Fzd6	A	T	15: 39,031,164	S242C	possibly damaging	Het
Galntl6	T	A	8: 58,472,970	H87L	probably benign	Het
Gatad2a	T	C	8: 69,935,941	E32G	probably damaging	Het
Gemin6	T	G	17: 80,227,749	V46G	probably damaging	Het
Gm11541	G	T	11: 94,704,118	H41Q	unknown	Het
Has3	A	G	8: 106,873,947	T14A	probably damaging	Het
Kmt2b	A	G	7: 30,580,444	L1377P	probably damaging	Het
Lcorl	T	C	5: 45,733,727	N428S	probably benign	Het
Lipo5	A	T	19: 33,467,884	V95D	unknown	Het
Lrp1	A	T	10: 127,555,724	V2942D	probably benign	Het
Map1a	T	C	2: 121,305,662	S2082P	probably damaging	Het
Mast4	T	C	13: 102,754,215	S852G	possibly damaging	Het
Mlh3	A	T	12: 85,269,373	L13*	probably null	Het
Ncam2	C	T	16: 81,434,878	R77*	probably null	Het
Nlrp9c	T	A	7: 26,382,366	N645I	possibly damaging	Het
Olfr109	T	A	17: 37,467,112	L302Q	unknown	Het
Olfr1126	T	C	2: 87,457,765	I200T	probably benign	Het
Olfr128	T	A	17: 37,924,492	*309K	probably null	Het
Olfr857	C	A	9: 19,713,698	Y290*	probably null	Het
Olfr965	A	T	9: 39,719,596	Y123F	possibly damaging	Het
Pex12	A	G	11: 83,296,264	V286A	possibly damaging	Het
Phax	C	T	18: 56,584,310	T275I	probably damaging	Het
Phf21b	A	G	15: 84,791,805	V335A	probably benign	Het
Rab3ip	T	C	10: 116,918,929	T209A	possibly damaging	Het
Ralgapb	T	C	2: 158,432,785	V202A	probably damaging	Het
Rpn2	T	C	2: 157,323,267	L611P	probably damaging	Het
Runx2	T	G	17: 44,724,862	T148P	probably damaging	Het
Sbpl	C	A	17: 23,954,649	D50Y	probably damaging	Het
Scn5a	G	A	9: 119,521,171	P879L	probably damaging	Het
Sfn	T	C	4: 133,601,604	R56G	probably damaging	Het
Tas2r138	C	T	6: 40,612,980	A111T	probably benign	Het
Tasp1	A	T	2: 140,008,789	S105T	probably damaging	Het
Tmem225	T	G	9: 40,150,706	H205Q	possibly damaging	Het
Tmprss7	A	G	16: 45,660,904	S640P	probably damaging	Het
Utp4	G	A	8: 106,917,633	A535T	possibly damaging	Het
Vmn1r203	A	T	13: 22,524,103	D18V	probably benign	Het
Vmn2r58	A	G	7: 41,872,645	L9P	probably benign	Het
Zcchc2	T	A	1: 106,030,254	C420*	probably null	Het
Zfp804a	A	G	2: 82,258,590	D921G	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
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
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
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'- TGTGCTGTTACAACTCTCACATTG -3'
(R):5'- TCAGAATGCAGGTCACCATC -3'

Sequencing Primer
(F):5'- AAGCCAGAGTCTTTCTCAGTGAC -3'
(R):5'- AGAATGCAGGTCACCATCTTTCC -3'

Posted On

2016-10-05