Mutagenetix > Incidental Mutation

Incidental Mutation 'R1171:Psg18'

99400

Institutional Source

Beutler Lab

Gene Symbol

Psg18

Ensembl Gene

ENSMUSG00000003505

Gene Name

pregnancy specific glycoprotein 18

Synonyms

Cea-3, Cea3, mmCGM6

MMRRC Submission

039244-MU

Accession Numbers

Essential gene?

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

Stock #

R1171 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18345422-18355009 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18346079 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 399 (V399A)

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: V399A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: V399A

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

unknown
Transcript: ENSMUST00000182983
AA Change: V58A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183222

Coding Region Coverage

1x: 99.6%
3x: 98.6%
10x: 96.2%
20x: 91.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	T	C	19: 11,112,377	Y48C	probably damaging	Het
Acsm5	A	T	7: 119,540,852	E492V	probably damaging	Het
Arid4a	G	A	12: 71,075,338	S509N	probably benign	Het
Atr	T	C	9: 95,907,323	F1511L	probably damaging	Het
BC005561	T	C	5: 104,520,903	V1097A	possibly damaging	Het
Bdkrb2	G	T	12: 105,592,157	R219L	probably benign	Het
Bhmt2	A	T	13: 93,662,329	M328K	probably benign	Het
Btbd3	A	G	2: 138,283,961	D286G	probably benign	Het
Bub1b	T	G	2: 118,606,686	L122V	probably benign	Het
Caml	T	C	13: 55,625,007	S155P	probably damaging	Het
Cfap43	T	C	19: 47,835,711	K74E	probably benign	Het
Chst4	A	G	8: 110,030,623	S120P	probably damaging	Het
Col11a1	A	G	3: 114,066,564	D213G	unknown	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,348,082		probably null	Het
Cxcl10	CAC	CACTAAC	5: 92,348,086		probably null	Het
Cyp26b1	A	T	6: 84,576,671	I167N	possibly damaging	Het
Dchs1	A	G	7: 105,757,714	S2195P	probably benign	Het
Ddx25	T	A	9: 35,546,846	K326*	probably null	Het
Dip2c	A	T	13: 9,493,126	Y36F	possibly damaging	Het
Dock2	T	C	11: 34,695,241	D538G	probably damaging	Het
E4f1	C	T	17: 24,451,549	D55N	probably damaging	Het
Emp1	G	T	6: 135,381,079	W141L	probably damaging	Het
Faim2	T	A	15: 99,500,254	H271L	probably benign	Het
Fbxw9	T	C	8: 85,066,078	M352T	possibly damaging	Het
Fcrls	A	T	3: 87,256,860	F321I	probably benign	Het
Frzb	C	T	2: 80,438,490		probably null	Het
Gal3st1	G	T	11: 3,998,931	K379N	probably damaging	Het
Gm5519	G	A	19: 33,822,972	C22Y	possibly damaging	Het
Gpn3	T	C	5: 122,378,520	F71L	probably benign	Het
H2-M9	A	G	17: 36,641,653	V167A	probably benign	Het
Hars	A	G	18: 36,771,414	F182L	possibly damaging	Het
Hid1	T	C	11: 115,352,717	T502A	probably benign	Het
Hipk3	G	T	2: 104,471,676	T57K	probably benign	Het
Iqsec2	A	G	X: 152,144,731	S87G	probably benign	Het
Itpk1	G	A	12: 102,606,119	L112F	probably damaging	Het
Klk9	T	A	7: 43,794,393	D110E	possibly damaging	Het
Lemd3	A	T	10: 120,949,341	M535K	possibly damaging	Het
Lipg	A	T	18: 74,945,823	S453T	possibly damaging	Het
Lrrc75a	A	T	11: 62,609,243	W150R	probably damaging	Het
Lyg1	T	C	1: 37,947,224	E143G	probably damaging	Het
Map3k1	A	G	13: 111,755,643	V1026A	probably benign	Het
Mgat3	T	A	15: 80,211,637	F222I	probably benign	Het
Mindy4	A	T	6: 55,255,616	N348I	possibly damaging	Het
Myo1b	A	C	1: 51,778,525	F532C	probably damaging	Het
Naif1	T	A	2: 32,452,546	N36K	probably damaging	Het
Nkpd1	C	A	7: 19,524,087	A597E	possibly damaging	Het
Npr2	A	G	4: 43,647,260	D772G	possibly damaging	Het
Olfr2	T	C	7: 107,001,584	N92S	probably benign	Het
Olfr658	T	G	7: 104,644,997	D123A	probably damaging	Het
Pcolce2	A	T	9: 95,694,740	M355L	probably benign	Het
Pdgfra	A	T	5: 75,173,447	I394F	probably damaging	Het
Pdzrn3	G	A	6: 101,150,877	R943C	probably damaging	Het
Pml	A	G	9: 58,234,538	V337A	probably damaging	Het
Pnpla2	T	A	7: 141,458,881	M321K	probably benign	Het
Poln	A	T	5: 34,103,940	N546K	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Prss28	T	A	17: 25,310,055	F123L	possibly damaging	Het
Rab5a	T	C	17: 53,506,415	C212R	probably damaging	Het
Ranbp6	A	T	19: 29,812,279	D224E	probably benign	Het
Recql4	T	C	15: 76,704,039	I1104M	possibly damaging	Het
Rev1	A	T	1: 38,088,500	N226K	possibly damaging	Het
Rhbdl3	T	A	11: 80,353,592	V375E	possibly damaging	Het
Senp6	T	A	9: 80,116,725	N423K	possibly damaging	Het
Sertad2	C	G	11: 20,648,091	L96V	probably benign	Het
Slc33a1	T	A	3: 63,953,894	T296S	probably benign	Het
Smurf2	G	A	11: 106,852,618	P188S	possibly damaging	Het
Spta1	T	A	1: 174,211,614	Y1174*	probably null	Het
Stra6l	A	T	4: 45,864,982	T103S	probably benign	Het
Swt1	C	T	1: 151,405,521	A352T	probably damaging	Het
Tdgf1	C	A	9: 110,943,167	V54L	probably benign	Het
Tigd2	T	A	6: 59,211,376	N409K	possibly damaging	Het
Tlr6	G	T	5: 64,955,250	H105N	probably benign	Het
Tmprss9	A	C	10: 80,879,858	T15P	possibly damaging	Het
Tnik	C	T	3: 28,532,940	T120M	probably damaging	Het
Tnr	T	A	1: 159,858,210	I337N	probably damaging	Het
Top3a	A	G	11: 60,750,593	Y422H	probably benign	Het
Trim67	A	G	8: 124,829,081	N768S	probably damaging	Het
Ttn	A	G	2: 76,705,966	V35016A	probably benign	Het
Utrn	A	C	10: 12,481,308	S312R	probably damaging	Het
Vdac2	A	G	14: 21,837,811	Y62C	probably damaging	Het
Vwa5b2	A	G	16: 20,604,984	T1216A	probably benign	Het
Wfdc16	T	C	2: 164,638,483	K31E	possibly damaging	Het
Wtip	C	T	7: 34,125,496	C221Y	probably damaging	Het
Xrn1	A	G	9: 95,991,011	D640G	possibly damaging	Het
Zdhhc5	T	C	2: 84,692,341	R293G	probably benign	Het
Zfp536	T	C	7: 37,569,634	D119G	probably damaging	Het
Zfp81	T	C	17: 33,335,280	T187A	probably benign	Het
Zfp810	C	T	9: 22,278,826	G262D	possibly damaging	Het
Zfp963	A	C	8: 69,743,019	I203M	possibly damaging	Het
Zfpm2	T	C	15: 41,101,679	M520T	probably damaging	Het
Zswim8	G	A	14: 20,713,113	R360Q	possibly damaging	Het
Zwilch	T	A	9: 64,158,717	H254L	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
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
R9442:Psg18	UTSW	7	18349260	nonsense	probably null
R9538:Psg18	UTSW	7	18350788	missense	probably benign	0.01
R9689:Psg18	UTSW	7	18350955	missense	probably benign	0.00
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

Posted On

2014-01-15