Mutagenetix > Incidental Mutations

Incidental Mutation 'R5010:Psg18'

390434

Institutional Source

Beutler Lab

Gene Symbol

Psg18

Ensembl Gene

ENSMUSG00000003505

Gene Name

pregnancy specific glycoprotein 18

Synonyms

Cea-3, Cea3, mmCGM6

MMRRC Submission

042601-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R5010 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18345422-18355009 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18349354 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 171 (V171D)

Ref Sequence

ENSEMBL: ENSMUSP00000096380 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000003597
AA Change: V292D

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

SMART Domains

Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: V292D

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: V171D

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

SMART Domains

Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505
AA Change: V171D

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: V23D

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183222

Meta Mutation Damage Score

0.8563

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	T	11: 58,422,804	A86V	possibly damaging	Het
9430097D07Rik	A	G	2: 32,574,428		probably benign	Het
Actr5	T	A	2: 158,635,363	D411E	probably benign	Het
Ang5	A	G	14: 43,962,845	D122G	probably benign	Het
Atg9a	A	T	1: 75,186,060		probably null	Het
C530008M17Rik	G	C	5: 76,657,834		probably benign	Het
Dctd	C	T	8: 48,137,414		probably benign	Het
Ddx11	G	A	17: 66,147,722	V642M	possibly damaging	Het
Dis3l2	G	A	1: 86,760,321	V100I	probably benign	Het
Echdc2	T	C	4: 108,172,131	V111A	probably benign	Het
Egr1	A	G	18: 34,863,658	T498A	probably benign	Het
Exosc3	T	C	4: 45,317,702	K200R	possibly damaging	Het
Exosc8	T	C	3: 54,729,223	D229G	probably benign	Het
Ext1	T	A	15: 53,092,412	I430F	probably damaging	Het
Fbxw22	T	C	9: 109,403,424	N31S	probably benign	Het
Gja8	T	C	3: 96,919,849	T166A	probably benign	Het
Gm21814	T	A	6: 149,583,618		noncoding transcript	Het
Gm21915	T	A	9: 40,670,648	H12Q	probably benign	Het
Gm597	A	G	1: 28,777,862	I363T	possibly damaging	Het
Hgsnat	G	A	8: 25,947,960	R527*	probably null	Het
Iqgap2	A	G	13: 95,673,743	F731S	probably benign	Het
Jchain	T	C	5: 88,522,505	H85R	probably damaging	Het
Kcnb2	T	C	1: 15,312,962	C171R	probably benign	Het
Kcnk3	C	A	5: 30,622,805	R400S	possibly damaging	Het
Klhl28	C	T	12: 64,957,227	E171K	probably damaging	Het
Lrrfip2	T	C	9: 111,223,972	I375T	possibly damaging	Het
Mccc1	T	C	3: 35,979,017	N326S	probably benign	Het
Med13l	T	C	5: 118,593,550	V97A	possibly damaging	Het
Mertk	C	A	2: 128,784,000	T685K	probably benign	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Myom2	G	A	8: 15,083,310	V401M	probably damaging	Het
Nme5	A	C	18: 34,578,685	M1R	probably null	Het
Nop2	T	C	6: 125,133,763	S68P	probably benign	Het
Notch1	A	T	2: 26,476,114	D809E	possibly damaging	Het
Olfr292	T	C	7: 86,694,585	I43T	possibly damaging	Het
Ppat	C	T	5: 76,928,678		probably benign	Het
Prss23	T	A	7: 89,510,214	M216L	probably benign	Het
Psg28	A	G	7: 18,427,891	V229A	probably damaging	Het
Qser1	T	C	2: 104,787,831	N879D	possibly damaging	Het
Rpap1	T	C	2: 119,770,041	N879S	probably benign	Het
Rusc2	T	C	4: 43,415,926	S411P	probably damaging	Het
Rxfp2	T	A	5: 150,067,360	W519R	probably damaging	Het
Scpep1	T	A	11: 88,941,349	Q185L	probably benign	Het
Serpinb11	A	G	1: 107,379,649	N270S	probably benign	Het
Serpinb6d	T	A	13: 33,671,444	M367K	probably benign	Het
Skint10	T	G	4: 112,727,672	I213L	probably benign	Het
Skint5	T	C	4: 113,546,537	T1163A	unknown	Het
Slamf9	A	T	1: 172,476,213	I42L	possibly damaging	Het
Slc1a3	T	C	15: 8,650,846		probably benign	Het
Smad6	T	A	9: 63,953,900	Q371L	possibly damaging	Het
Snx31	A	T	15: 36,555,324	V26E	probably damaging	Het
Taf4b	A	G	18: 14,822,172	N594S	possibly damaging	Het
Tanc2	T	C	11: 105,780,092	S172P	probably damaging	Het
Tas2r110	T	A	6: 132,868,475	Y156*	probably null	Het
Tbc1d20	G	A	2: 152,293,936		probably benign	Het
Timm50	A	T	7: 28,306,859	D272E	probably benign	Het
Ttn	T	G	2: 76,900,511		probably benign	Het
Vps13c	T	A	9: 67,916,379	F1362I	probably benign	Het
Vwf	T	C	6: 125,566,257	S154P	probably benign	Het
Zfp445	T	C	9: 122,852,345	R844G	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
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
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'- ATGTGCTGTTACAACTCTCACATTG -3'
(R):5'- TCCATCTTGTCAGAATGCAGG -3'

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

Posted On

2016-06-06