Mutagenetix > Incidental Mutations

Incidental Mutation 'R7941:Psg20'

649051

Institutional Source

Beutler Lab

Gene Symbol

Psg20

Ensembl Gene

ENSMUSG00000063305

Gene Name

pregnancy-specific glycoprotein 20

Synonyms

cea7, EG434540

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7941 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18674107-18686185 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 18681177 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000075973 (fasta)

Gene Model

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

AlphaFold

E9Q9B4

Predicted Effect

probably null
Transcript: ENSMUST00000076677

SMART Domains

Protein: ENSMUSP00000075973
Gene: ENSMUSG00000063305

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 null
Transcript: ENSMUST00000076677

SMART Domains

Protein: ENSMUSP00000075973
Gene: ENSMUSG00000063305

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 null
Transcript: ENSMUST00000076677

SMART Domains

Protein: ENSMUSP00000075973
Gene: ENSMUSG00000063305

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 null
Transcript: ENSMUST00000108482

SMART Domains

Protein: ENSMUSP00000104122
Gene: ENSMUSG00000063305

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

Predicted Effect

probably null
Transcript: ENSMUST00000108482

SMART Domains

Protein: ENSMUSP00000104122
Gene: ENSMUSG00000063305

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

Predicted Effect

probably null
Transcript: ENSMUST00000108482

SMART Domains

Protein: ENSMUSP00000104122
Gene: ENSMUSG00000063305

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: 99.7%
20x: 98.9%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	C	2: 31,689,679		probably benign	Het
AI467606	A	G	7: 127,092,421	E56G	probably damaging	Het
Ak9	C	T	10: 41,409,137	P1403S	unknown	Het
Akr1c14	A	G	13: 4,059,713	K28E	probably benign	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Anks1b	A	T	10: 90,577,155	N55I	probably damaging	Het
C87414	A	T	5: 93,638,028	V131D	probably benign	Het
Cabyr	T	C	18: 12,744,768	L54P	probably damaging	Het
Cachd1	A	T	4: 100,988,173	N954I	probably damaging	Het
Cenpf	A	G	1: 189,657,286	S1450P	probably damaging	Het
Chst10	T	A	1: 38,871,691	I131L	probably damaging	Het
Cluh	A	T	11: 74,659,757	M270L	probably benign	Het
Dagla	T	C	19: 10,271,503	H29R	probably damaging	Het
Dusp5	A	G	19: 53,537,533	N202S	probably benign	Het
Elavl3	A	G	9: 22,036,316	I110T	possibly damaging	Het
Fam222b	G	T	11: 78,155,059	G482V	possibly damaging	Het
Fbxl7	A	G	15: 26,543,613	L316P	probably damaging	Het
Gad1	T	A	2: 70,594,585		probably null	Het
H2-K1	T	C	17: 33,999,331	T204A	probably benign	Het
Hmcn1	A	G	1: 150,650,084	V3296A	possibly damaging	Het
Hyal1	T	C	9: 107,578,100	F203S	probably damaging	Het
Il16	T	A	7: 83,682,829	D181V	probably damaging	Het
Ip6k1	T	C	9: 108,024,432	F69L	probably damaging	Het
Klf4	G	A	4: 55,531,755		probably benign	Het
Lsr	T	G	7: 30,973,095	I27L	probably benign	Het
Mettl4	A	T	17: 94,733,194		probably null	Het
Mpdz	A	G	4: 81,282,750	V1902A	probably benign	Het
Nfkbiz	C	T	16: 55,821,944	G37D	probably damaging	Het
Olfr1131	T	C	2: 87,628,904	V31A	probably benign	Het
Otogl	A	T	10: 107,806,802		probably null	Het
Pcdh1	T	C	18: 38,199,080	D429G	probably damaging	Het
Prelid2	A	T	18: 41,932,751	L73*	probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,677		probably benign	Het
Rab24	C	T	13: 55,320,307		probably null	Het
Rag1	T	G	2: 101,642,346	K817T	probably benign	Het
Rgl2	T	C	17: 33,931,739	V57A	probably benign	Het
Ric1	T	C	19: 29,533,259	M80T	probably damaging	Het
Sh3rf3	T	C	10: 59,007,061	I283T	probably damaging	Het
Skint2	C	A	4: 112,625,990	N197K	probably damaging	Het
Snapc4	A	G	2: 26,376,718	I126T	probably damaging	Het
Srcap	GTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	GTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	7: 127,558,290		probably benign	Het
Svip	T	C	7: 52,003,413	K51R	probably benign	Het
Syndig1	T	A	2: 149,899,788	V98E	probably benign	Het
Tshz1	A	T	18: 84,015,392	M297K	possibly damaging	Het
Ttn	A	G	2: 76,919,350	V3785A	probably benign	Het
Usf3	T	C	16: 44,215,561	S135P	probably damaging	Het
Vmn2r10	A	T	5: 108,996,440	M548K	probably damaging	Het
Vmn2r92	T	C	17: 18,184,837	S748P	possibly damaging	Het
Zbtb39	A	G	10: 127,743,540	Y661C	probably damaging	Het
Zfp804b	A	G	5: 6,770,042	I1007T	probably benign	Het
Zscan4-ps2	A	G	7: 11,517,672	I212V	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
R8010:Psg20	UTSW	7	18681067	missense	probably benign	0.06
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

Predicted Primers

PCR Primer
(F):5'- GCAGGGATCCATTAGTGTACCC -3'
(R):5'- ATGACAGATTCTGTGGCACTG -3'

Sequencing Primer
(F):5'- GTAGCCACTGAAAATGGACTTCATCG -3'
(R):5'- CACTGAGGGCTGTTGCTGAC -3'

Posted On

2020-09-15