Mutagenetix > Incidental Mutation

Incidental Mutation 'R1368:Psg23'

155876

Institutional Source

Beutler Lab

Gene Symbol

Psg23

Ensembl Gene

ENSMUSG00000074359

Gene Name

pregnancy-specific beta-1-glycoprotein 23

Synonyms

1620401C02Rik

MMRRC Submission

039433-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1368 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18340268-18350426 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18348645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 54 (V54A)

Ref Sequence

ENSEMBL: ENSMUSP00000056586 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057810]

AlphaFold

Q9D2U0

Predicted Effect

probably benign
Transcript: ENSMUST00000057810
AA Change: V54A

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000056586
Gene: ENSMUSG00000074359
AA Change: V54A

Domain	Start	End	E-Value	Type
IG	39	138	2.03e-4	SMART
IG	159	260	4.16e-1	SMART
IG	276	375	1.25e-4	SMART
IGc2	393	457	4.7e-9	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (55/56)

MGI Phenotype

PHENOTYPE: Mice homozygous for this spontaneous mutation display no phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,241,836 (GRCm39)	D1233G	probably benign	Het
Abcc8	G	A	7: 45,772,284 (GRCm39)	R832W	probably damaging	Het
Atp10b	A	G	11: 43,092,981 (GRCm39)	T439A	probably damaging	Het
Brd10	C	A	19: 29,693,796 (GRCm39)	S1966I	probably damaging	Het
C130073F10Rik	T	A	4: 101,747,953 (GRCm39)	N74Y	possibly damaging	Het
Cct8	G	A	16: 87,288,200 (GRCm39)	S124L	probably damaging	Het
Cdh9	T	A	15: 16,848,568 (GRCm39)		probably benign	Het
Cep290	C	T	10: 100,330,828 (GRCm39)		probably benign	Het
Chrng	T	A	1: 87,133,575 (GRCm39)	L10H	probably damaging	Het
Cnn3	T	C	3: 121,250,786 (GRCm39)	L189S	probably benign	Het
Cog4	A	G	8: 111,585,157 (GRCm39)		probably benign	Het
Cxcl12	A	G	6: 117,153,111 (GRCm39)		probably benign	Het
Eif2b2	G	A	12: 85,270,230 (GRCm39)	A257T	probably damaging	Het
Entrep2	A	T	7: 64,469,625 (GRCm39)	V41E	probably damaging	Het
Fanca	G	A	8: 124,031,020 (GRCm39)		probably benign	Het
Fcgbpl1	A	G	7: 27,858,903 (GRCm39)	Q2341R	possibly damaging	Het
Fktn	G	A	4: 53,734,880 (GRCm39)	G173R	probably damaging	Het
Gabbr2	T	C	4: 46,674,464 (GRCm39)	N841S	probably benign	Het
Gm5622	T	A	14: 51,899,647 (GRCm39)	V167E	possibly damaging	Het
Gnaq	T	C	19: 16,355,651 (GRCm39)	V289A	probably benign	Het
Gpatch2l	T	G	12: 86,307,439 (GRCm39)	D272E	possibly damaging	Het
Gzmg	G	A	14: 56,395,263 (GRCm39)	T74I	probably benign	Het
Ikzf2	G	A	1: 69,578,474 (GRCm39)	A271V	possibly damaging	Het
Lig4	T	C	8: 10,021,176 (GRCm39)	D868G	possibly damaging	Het
Mfsd6	T	C	1: 52,747,764 (GRCm39)	E367G	possibly damaging	Het
Mpz	T	C	1: 170,987,533 (GRCm39)	L223P	probably damaging	Het
Muc17	T	C	5: 137,175,674 (GRCm39)		probably benign	Het
Or2f1b	C	A	6: 42,739,613 (GRCm39)	T209K	possibly damaging	Het
Pdcd2	G	T	17: 15,746,846 (GRCm39)	N104K	probably damaging	Het
Pigg	G	T	5: 108,465,154 (GRCm39)	G129V	probably damaging	Het
Ppp3cc	T	C	14: 70,483,311 (GRCm39)	Y254C	probably damaging	Het
Prl3b1	G	A	13: 27,427,848 (GRCm39)	A53T	probably benign	Het
Psmd3	A	G	11: 98,573,746 (GRCm39)	D64G	probably damaging	Het
Psmg2	CTTCAGTT	CTTCAGTTCAGTT	18: 67,779,095 (GRCm39)		probably null	Het
Ptgdr	T	A	14: 45,090,799 (GRCm39)	I320F	probably damaging	Het
Rad50	T	A	11: 53,574,072 (GRCm39)	K722*	probably null	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rgs9	G	A	11: 109,138,977 (GRCm39)	S255L	probably benign	Het
Ror1	C	T	4: 100,298,334 (GRCm39)	P569L	possibly damaging	Het
Rsad2	T	C	12: 26,497,147 (GRCm39)		probably null	Het
Scn8a	A	G	15: 100,933,422 (GRCm39)	D1501G	probably damaging	Het
Sema3c	A	G	5: 17,883,330 (GRCm39)	T313A	possibly damaging	Het
Serpinc1	T	A	1: 160,821,094 (GRCm39)	F59L	probably damaging	Het
Sike1	A	G	3: 102,903,500 (GRCm39)	D63G	possibly damaging	Het
Slc25a11	T	A	11: 70,536,352 (GRCm39)		probably null	Het
Slc32a1	A	G	2: 158,453,240 (GRCm39)	M27V	probably benign	Het
Smc5	A	G	19: 23,187,807 (GRCm39)	V1003A	probably damaging	Het
Tll2	G	A	19: 41,108,667 (GRCm39)	R328C	probably damaging	Het
Topaz1	A	G	9: 122,577,315 (GRCm39)	E75G	possibly damaging	Het
Tspan3	A	T	9: 56,054,783 (GRCm39)	V48E	probably benign	Het
Ugt1a6b	T	C	1: 88,035,358 (GRCm39)	I232T	probably benign	Het
Unc79	A	G	12: 103,122,772 (GRCm39)	K2290E	probably damaging	Het
Vmn1r19	T	C	6: 57,381,656 (GRCm39)	F70L	probably benign	Het

Other mutations in Psg23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00814:Psg23	APN	7	18,348,608 (GRCm39)	nonsense	probably null
IGL01309:Psg23	APN	7	18,348,465 (GRCm39)	missense	probably damaging	1.00
IGL01736:Psg23	APN	7	18,346,122 (GRCm39)	missense	possibly damaging	0.76
IGL02142:Psg23	APN	7	18,344,345 (GRCm39)	missense	probably benign	0.01
IGL02728:Psg23	APN	7	18,340,853 (GRCm39)	missense	probably benign	0.02
IGL03080:Psg23	APN	7	18,340,910 (GRCm39)	missense	probably damaging	1.00
IGL03130:Psg23	APN	7	18,344,341 (GRCm39)	missense	probably benign	0.25
R0113:Psg23	UTSW	7	18,345,927 (GRCm39)	missense	probably benign	0.31
R0137:Psg23	UTSW	7	18,348,558 (GRCm39)	missense	probably benign	0.00
R0544:Psg23	UTSW	7	18,348,607 (GRCm39)	missense	probably damaging	1.00
R1840:Psg23	UTSW	7	18,344,363 (GRCm39)	missense	possibly damaging	0.67
R1869:Psg23	UTSW	7	18,348,543 (GRCm39)	missense	probably benign	0.09
R1875:Psg23	UTSW	7	18,344,375 (GRCm39)	missense	probably benign	0.10
R2041:Psg23	UTSW	7	18,348,703 (GRCm39)	missense	possibly damaging	0.78
R2096:Psg23	UTSW	7	18,348,668 (GRCm39)	missense	probably damaging	1.00
R3110:Psg23	UTSW	7	18,344,369 (GRCm39)	missense	possibly damaging	0.72
R3112:Psg23	UTSW	7	18,344,369 (GRCm39)	missense	possibly damaging	0.72
R3790:Psg23	UTSW	7	18,346,126 (GRCm39)	missense	probably benign	0.00
R3892:Psg23	UTSW	7	18,345,966 (GRCm39)	missense	probably damaging	1.00
R4074:Psg23	UTSW	7	18,341,043 (GRCm39)	missense	possibly damaging	0.66
R4200:Psg23	UTSW	7	18,345,990 (GRCm39)	missense	probably damaging	1.00
R4865:Psg23	UTSW	7	18,346,039 (GRCm39)	missense	probably benign	0.14
R5337:Psg23	UTSW	7	18,345,997 (GRCm39)	missense	probably benign	0.00
R6016:Psg23	UTSW	7	18,346,112 (GRCm39)	missense	probably benign	0.00
R6951:Psg23	UTSW	7	18,348,636 (GRCm39)	missense	probably damaging	1.00
R7033:Psg23	UTSW	7	18,348,669 (GRCm39)	missense	possibly damaging	0.82
R7212:Psg23	UTSW	7	18,341,064 (GRCm39)	missense	probably benign	0.00
R7427:Psg23	UTSW	7	18,345,908 (GRCm39)	splice site	probably null
R7527:Psg23	UTSW	7	18,348,699 (GRCm39)	missense	probably damaging	1.00
R7814:Psg23	UTSW	7	18,340,839 (GRCm39)	makesense	probably null
R7864:Psg23	UTSW	7	18,344,435 (GRCm39)	missense	possibly damaging	0.87
R7897:Psg23	UTSW	7	18,341,108 (GRCm39)	missense	possibly damaging	0.83
R8155:Psg23	UTSW	7	18,346,179 (GRCm39)	missense	probably damaging	1.00
R8358:Psg23	UTSW	7	18,348,522 (GRCm39)	missense	probably benign	0.00
R9032:Psg23	UTSW	7	18,348,660 (GRCm39)	missense	possibly damaging	0.83
R9085:Psg23	UTSW	7	18,348,660 (GRCm39)	missense	possibly damaging	0.83
R9365:Psg23	UTSW	7	18,344,393 (GRCm39)	missense	probably damaging	1.00
R9577:Psg23	UTSW	7	18,346,067 (GRCm39)	missense	probably benign	0.00
R9688:Psg23	UTSW	7	18,344,547 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTCAAGCACCAACATGGAGACAC -3'
(R):5'- ACCCCTACCGATAGGCATAAGCTG -3'

Sequencing Primer
(F):5'- GAAGAGTGTAATATCCTGTGTCCTCC -3'
(R):5'- TAAGCTGAGGGATGCTTACACC -3'

Posted On

2014-02-11