Mutagenetix > Incidental Mutation

Incidental Mutation 'R2121:Psg20'

231446

Institutional Source

Beutler Lab

Gene Symbol

Psg20

Ensembl Gene

ENSMUSG00000063305

Gene Name

pregnancy-specific beta-1-glycoprotein 20

Synonyms

cea7, EG434540

MMRRC Submission

040125-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.047) question?

Stock #

R2121 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18408032-18420110 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18414947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 316 (Y316F)

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: Y316F

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000075973
Gene: ENSMUSG00000063305
AA Change: Y316F

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: Y313F

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104122
Gene: ENSMUSG00000063305
AA Change: Y313F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Adnp2	A	G	18: 80,172,385 (GRCm39)	F675L	probably benign	Het
Akna	G	A	4: 63,295,137 (GRCm39)	T1024I	probably benign	Het
Ambn	T	A	5: 88,608,617 (GRCm39)		probably benign	Het
Aox3	T	C	1: 58,191,708 (GRCm39)		probably benign	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Arhgef26	A	T	3: 62,247,704 (GRCm39)	N263Y	probably damaging	Het
Arpp21	A	G	9: 111,965,738 (GRCm39)	S375P	probably damaging	Het
Bscl2	G	T	19: 8,817,146 (GRCm39)	E25*	probably null	Het
Ccl12	T	A	11: 81,992,776 (GRCm39)	S17R	probably damaging	Het
Cdh1	A	G	8: 107,390,842 (GRCm39)	I653V	probably benign	Het
Ceacam9	T	A	7: 16,455,928 (GRCm39)	F12I	probably benign	Het
Cfap47	T	C	X: 78,553,927 (GRCm39)	I267V	probably benign	Het
Cldn23	A	G	8: 36,293,389 (GRCm39)	V33A	probably benign	Het
Cog1	T	C	11: 113,540,424 (GRCm39)	L13P	probably damaging	Het
Col20a1	G	C	2: 180,638,249 (GRCm39)	A346P	probably damaging	Het
Col6a3	T	C	1: 90,738,087 (GRCm39)	D537G	probably damaging	Het
Ctnnd2	G	A	15: 30,669,660 (GRCm39)	R423H	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dcdc2a	T	G	13: 25,303,268 (GRCm39)	S266R	possibly damaging	Het
Diaph1	A	T	18: 38,029,442 (GRCm39)	M330K	unknown	Het
Dnah5	C	T	15: 28,297,151 (GRCm39)		probably benign	Het
F13a1	T	A	13: 37,209,653 (GRCm39)	Y104F	probably benign	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fancl	G	T	11: 26,409,841 (GRCm39)		probably benign	Het
Gm10477	A	G	X: 55,570,192 (GRCm39)	K31E	probably damaging	Het
Gstm7	T	C	3: 107,834,230 (GRCm39)	M175V	probably benign	Het
Hcn4	T	C	9: 58,731,341 (GRCm39)	S183P	unknown	Het
Heatr1	T	C	13: 12,418,145 (GRCm39)	V359A	probably benign	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Ints6l	T	A	X: 55,550,228 (GRCm39)	S718T	probably benign	Het
Kctd5	T	C	17: 24,274,940 (GRCm39)	T212A	probably benign	Het
Kdm3b	T	C	18: 34,929,833 (GRCm39)		probably benign	Het
Ltbp1	T	A	17: 75,617,154 (GRCm39)	V1031E	possibly damaging	Het
Lyst	A	G	13: 13,835,556 (GRCm39)	Y1746C	probably damaging	Het
Mageb5	A	G	X: 90,823,701 (GRCm39)	I226T	probably damaging	Het
Mdc1	C	T	17: 36,158,835 (GRCm39)	A405V	probably benign	Het
Mlc1	A	G	15: 88,847,634 (GRCm39)	Y305H	probably benign	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Muc4	A	G	16: 32,580,612 (GRCm39)	Y2474C	unknown	Het
Mybphl	A	C	3: 108,282,492 (GRCm39)	N175T	probably damaging	Het
Ncbp3	T	C	11: 72,944,304 (GRCm39)	V102A	possibly damaging	Het
Neb	A	G	2: 52,154,076 (GRCm39)	F2345S	probably damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Odad4	T	A	11: 100,457,837 (GRCm39)		probably null	Het
Or7e173	T	G	9: 19,938,797 (GRCm39)	I146L	probably benign	Het
Or8j3	T	A	2: 86,028,340 (GRCm39)	Y252F	possibly damaging	Het
Palb2	T	C	7: 121,727,004 (GRCm39)	T289A	possibly damaging	Het
Pde10a	A	T	17: 9,196,047 (GRCm39)	Q657L	probably damaging	Het
Ppp2r2a	A	T	14: 67,260,577 (GRCm39)	F234I	probably damaging	Het
Prl3c1	T	A	13: 27,383,325 (GRCm39)		probably null	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Serpina3m	A	G	12: 104,355,941 (GRCm39)	M203V	possibly damaging	Het
Slc6a21	A	T	7: 44,937,886 (GRCm39)	I726F	probably benign	Het
Spmap2l	A	T	5: 77,208,605 (GRCm39)	I378L	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tfdp2	T	C	9: 96,177,067 (GRCm39)	S75P	probably damaging	Het
Tll1	T	C	8: 64,538,591 (GRCm39)	E351G	probably benign	Het
Tmed11	G	A	5: 108,943,198 (GRCm39)		probably benign	Het
Tmem81	C	A	1: 132,435,847 (GRCm39)	Q218K	probably benign	Het
Tnfsf11	G	A	14: 78,537,333 (GRCm39)	T110I	probably benign	Het
Tub	G	A	7: 108,625,944 (GRCm39)	G232S	probably damaging	Het
Vmn2r121	A	T	X: 123,043,439 (GRCm39)		probably null	Het
Vwa5b1	T	C	4: 138,315,880 (GRCm39)	T621A	probably benign	Het
Ythdf3	T	C	3: 16,259,356 (GRCm39)	F501S	possibly damaging	Het

Other mutations in Psg20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Psg20	APN	7	18,408,536 (GRCm39)	missense	possibly damaging	0.72
IGL01459:Psg20	APN	7	18,416,638 (GRCm39)	missense	probably damaging	1.00
IGL01599:Psg20	APN	7	18,414,963 (GRCm39)	missense	possibly damaging	0.83
IGL01678:Psg20	APN	7	18,414,795 (GRCm39)	missense	probably damaging	1.00
IGL01991:Psg20	APN	7	18,418,350 (GRCm39)	missense	probably benign	0.01
IGL02449:Psg20	APN	7	18,418,333 (GRCm39)	splice site	probably benign
IGL02522:Psg20	APN	7	18,416,356 (GRCm39)	missense	probably benign	0.06
IGL03358:Psg20	APN	7	18,414,891 (GRCm39)	missense	probably benign	0.04
PIT4431001:Psg20	UTSW	7	18,408,475 (GRCm39)	missense	probably damaging	1.00
R0136:Psg20	UTSW	7	18,416,432 (GRCm39)	missense	probably damaging	0.98
R0184:Psg20	UTSW	7	18,419,901 (GRCm39)	missense	probably null	0.95
R0894:Psg20	UTSW	7	18,414,969 (GRCm39)	nonsense	probably null
R1291:Psg20	UTSW	7	18,418,599 (GRCm39)	missense	possibly damaging	0.46
R1997:Psg20	UTSW	7	18,416,535 (GRCm39)	missense	probably benign	0.00
R2118:Psg20	UTSW	7	18,414,947 (GRCm39)	missense	probably benign	0.19
R2119:Psg20	UTSW	7	18,414,947 (GRCm39)	missense	probably benign	0.19
R2120:Psg20	UTSW	7	18,414,947 (GRCm39)	missense	probably benign	0.19
R2124:Psg20	UTSW	7	18,414,947 (GRCm39)	missense	probably benign	0.19
R2127:Psg20	UTSW	7	18,416,643 (GRCm39)	missense	probably damaging	0.99
R3795:Psg20	UTSW	7	18,418,374 (GRCm39)	missense	probably benign	0.09
R4115:Psg20	UTSW	7	18,419,905 (GRCm39)	missense	probably damaging	1.00
R4238:Psg20	UTSW	7	18,418,434 (GRCm39)	missense	probably damaging	1.00
R5004:Psg20	UTSW	7	18,414,837 (GRCm39)	missense	probably damaging	1.00
R5025:Psg20	UTSW	7	18,408,291 (GRCm39)	makesense	probably null
R6294:Psg20	UTSW	7	18,416,604 (GRCm39)	missense	probably damaging	1.00
R6733:Psg20	UTSW	7	18,408,547 (GRCm39)	missense	probably damaging	0.99
R6744:Psg20	UTSW	7	18,408,505 (GRCm39)	missense	probably damaging	1.00
R6799:Psg20	UTSW	7	18,418,345 (GRCm39)	missense	probably benign	0.06
R7466:Psg20	UTSW	7	18,418,392 (GRCm39)	missense	probably benign	0.00
R7524:Psg20	UTSW	7	18,418,584 (GRCm39)	missense	probably benign	0.18
R7583:Psg20	UTSW	7	18,416,408 (GRCm39)	missense	probably damaging	1.00
R7941:Psg20	UTSW	7	18,415,102 (GRCm39)	critical splice acceptor site	probably null
R8010:Psg20	UTSW	7	18,414,992 (GRCm39)	missense	probably benign	0.06
R8247:Psg20	UTSW	7	18,416,562 (GRCm39)	missense	probably benign	0.01
R8762:Psg20	UTSW	7	18,408,557 (GRCm39)	missense	probably benign
R8804:Psg20	UTSW	7	18,416,584 (GRCm39)	missense	possibly damaging	0.90
R9138:Psg20	UTSW	7	18,418,595 (GRCm39)	missense
R9279:Psg20	UTSW	7	18,416,670 (GRCm39)	missense	probably benign	0.06
R9683:Psg20	UTSW	7	18,416,508 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACTTGTGCATGCACTGTTTC -3'
(R):5'- GGTCGATGTCTTTTCACCAGG -3'

Sequencing Primer
(F):5'- ATGCACTGTTTCAACTTTCACATGG -3'
(R):5'- CCAGGCACAATGATCTATGTGATGAC -3'

Posted On

2014-09-18