Mutagenetix > Incidental Mutation

Incidental Mutation 'R8010:Psg20'

616856

Institutional Source

Beutler Lab

Gene Symbol

Psg20

Ensembl Gene

ENSMUSG00000063305

Gene Name

pregnancy-specific glycoprotein 20

Synonyms

cea7, EG434540

MMRRC Submission

046050-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R8010 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18674107-18686185 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18681067 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 301 (D301G)

Ref Sequence

ENSEMBL: ENSMUSP00000075973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076677] [ENSMUST00000108482]

AlphaFold

E9Q9B4

Predicted Effect

probably benign
Transcript: ENSMUST00000076677
AA Change: D301G

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000075973
Gene: ENSMUSG00000063305
AA Change: D301G

Domain	Start	End	E-Value	Type
IG	40	141	2.34e-4	SMART
IG	160	261	2.14e0	SMART
IG	280	381	8.01e-3	SMART
IGc2	397	461	1.47e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108482
AA Change: D298G

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000104122
Gene: ENSMUSG00000063305
AA Change: D298G

Domain	Start	End	E-Value	Type
IG	40	141	2.34e-4	SMART
IG	160	261	2.14e0	SMART
IG	277	378	8.01e-3	SMART
IGc2	394	458	1.47e-10	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,580,340	H130L	probably benign	Het
Abca1	A	G	4: 53,127,600	S140P	probably benign	Het
AI314180	T	A	4: 58,832,681	Q893L	unknown	Het
Aoc1	T	C	6: 48,905,648	Y153H	probably benign	Het
Arhgdib	A	G	6: 136,926,722	I118T	probably damaging	Het
Atp1a3	T	A	7: 24,980,645	E865V	possibly damaging	Het
Atrnl1	T	C	19: 57,682,446	V587A	probably benign	Het
C130026I21Rik	G	A	1: 85,246,950	S288L	possibly damaging	Het
Ccdc107	G	T	4: 43,495,768	E199*	probably null	Het
Cd55	A	T	1: 130,459,616	D148E	probably benign	Het
Cdc42ep1	C	T	15: 78,847,799	T148I	possibly damaging	Het
Cep164	A	T	9: 45,823,671	D19E	unknown	Het
Chsy3	A	G	18: 59,410,154	Y788C	probably damaging	Het
Cttnbp2	G	C	6: 18,426,093	A762G	possibly damaging	Het
Cubn	A	G	2: 13,336,086		probably null	Het
Ddr1	T	A	17: 35,691,492	M175L	possibly damaging	Het
Dicer1	C	A	12: 104,692,132	K1850N	probably damaging	Het
Dnajc6	C	T	4: 101,618,414	R495C	probably benign	Het
Fbxo18	A	T	2: 11,767,632	N79K	probably benign	Het
Frmpd1	T	A	4: 45,284,272	V1031D	possibly damaging	Het
Gm7298	A	G	6: 121,735,583	E118G	probably benign	Het
Hnrnpll	T	C	17: 80,061,956	T13A	unknown	Het
Jcad	A	G	18: 4,674,581	D781G	probably benign	Het
Kitl	A	T	10: 100,051,903	T25S	probably benign	Het
Krt5	T	C	15: 101,712,356	D152G	probably damaging	Het
Krtap5-5	T	C	7: 142,229,911	M1V	probably null	Het
Ktn1	C	T	14: 47,705,773	T862I	possibly damaging	Het
Mapk4	A	T	18: 73,930,576	I525N	probably benign	Het
Megf6	T	C	4: 154,270,507	F1457S	probably benign	Het
Mrm3	A	T	11: 76,250,347	S394C	probably damaging	Het
Mtmr4	T	G	11: 87,598,864	V71G	probably damaging	Het
Nek8	T	C	11: 78,176,596	Y4C	probably damaging	Het
Olfr203	T	C	16: 59,303,504	M117T	probably damaging	Het
Olfr309	T	A	7: 86,307,052	E20D	probably benign	Het
Olfr849	A	T	9: 19,441,692	I260L	probably benign	Het
Pla2r1	T	C	2: 60,514,960	T351A	probably benign	Het
Plcb4	C	T	2: 135,907,560	T49M	probably benign	Het
Ptpn13	C	T	5: 103,559,937	Q1455*	probably null	Het
Rbbp8	A	T	18: 11,722,233	N505I	possibly damaging	Het
Rgs18	A	G	1: 144,756,000	C125R	probably benign	Het
Rpap2	G	A	5: 107,603,605	C105Y	probably damaging	Het
Scn10a	C	T	9: 119,661,167	G570R	possibly damaging	Het
Sell	C	T	1: 164,065,512	T99I	possibly damaging	Het
Slc14a1	A	T	18: 78,116,489	M63K	probably benign	Het
Syne2	A	T	12: 75,930,738	D1319V	probably benign	Het
Tdp2	C	T	13: 24,836,027	T99I	probably damaging	Het
Tet3	A	T	6: 83,403,246	S647T	unknown	Het
Tpd52l1	T	G	10: 31,358,013	D48A	possibly damaging	Het
Ttll10	T	C	4: 156,047,161	D169G	probably damaging	Het
Wars2	C	A	3: 99,216,830	L336I	probably benign	Het
Wdfy4	C	A	14: 32,971,627	W2906L		Het
Xdh	A	T	17: 73,909,317	Y711*	probably null	Het
Xirp1	T	A	9: 120,017,824	R664S	probably benign	Het

Other mutations in Psg20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Psg20	APN	7	18674611	missense	possibly damaging	0.72
IGL01459:Psg20	APN	7	18682713	missense	probably damaging	1.00
IGL01599:Psg20	APN	7	18681038	missense	possibly damaging	0.83
IGL01678:Psg20	APN	7	18680870	missense	probably damaging	1.00
IGL01991:Psg20	APN	7	18684425	missense	probably benign	0.01
IGL02449:Psg20	APN	7	18684408	splice site	probably benign
IGL02522:Psg20	APN	7	18682431	missense	probably benign	0.06
IGL03358:Psg20	APN	7	18680966	missense	probably benign	0.04
PIT4431001:Psg20	UTSW	7	18674550	missense	probably damaging	1.00
R0136:Psg20	UTSW	7	18682507	missense	probably damaging	0.98
R0184:Psg20	UTSW	7	18685976	missense	probably null	0.95
R0894:Psg20	UTSW	7	18681044	nonsense	probably null
R1291:Psg20	UTSW	7	18684674	missense	possibly damaging	0.46
R1997:Psg20	UTSW	7	18682610	missense	probably benign	0.00
R2118:Psg20	UTSW	7	18681022	missense	probably benign	0.19
R2119:Psg20	UTSW	7	18681022	missense	probably benign	0.19
R2120:Psg20	UTSW	7	18681022	missense	probably benign	0.19
R2121:Psg20	UTSW	7	18681022	missense	probably benign	0.19
R2124:Psg20	UTSW	7	18681022	missense	probably benign	0.19
R2127:Psg20	UTSW	7	18682718	missense	probably damaging	0.99
R3795:Psg20	UTSW	7	18684449	missense	probably benign	0.09
R4115:Psg20	UTSW	7	18685980	missense	probably damaging	1.00
R4238:Psg20	UTSW	7	18684509	missense	probably damaging	1.00
R5004:Psg20	UTSW	7	18680912	missense	probably damaging	1.00
R5025:Psg20	UTSW	7	18674366	makesense	probably null
R6294:Psg20	UTSW	7	18682679	missense	probably damaging	1.00
R6733:Psg20	UTSW	7	18674622	missense	probably damaging	0.99
R6744:Psg20	UTSW	7	18674580	missense	probably damaging	1.00
R6799:Psg20	UTSW	7	18684420	missense	probably benign	0.06
R7466:Psg20	UTSW	7	18684467	missense	probably benign	0.00
R7524:Psg20	UTSW	7	18684659	missense	probably benign	0.18
R7583:Psg20	UTSW	7	18682483	missense	probably damaging	1.00
R7941:Psg20	UTSW	7	18681177	critical splice acceptor site	probably null
R8247:Psg20	UTSW	7	18682637	missense	probably benign	0.01
R8762:Psg20	UTSW	7	18674632	missense	probably benign
R8804:Psg20	UTSW	7	18682659	missense	possibly damaging	0.90
R9138:Psg20	UTSW	7	18684670	missense
R9279:Psg20	UTSW	7	18682745	missense	probably benign	0.06
R9683:Psg20	UTSW	7	18682583	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACTGTTTCAACTTTCACATGGC -3'
(R):5'- TGTCAGGATGCAGGTCGATG -3'

Sequencing Primer
(F):5'- TAATAGTGTGTAGAAGCCAGTGTC -3'
(R):5'- GATGTCTTTTCACCAGGCACAATG -3'

Posted On

2020-01-23