Mutagenetix > Incidental Mutations

Incidental Mutation 'R7864:Psg23'

607715

Institutional Source

Beutler Lab

Gene Symbol

Psg23

Ensembl Gene

ENSMUSG00000074359

Gene Name

pregnancy-specific glycoprotein 23

Synonyms

1620401C02Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7864 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18606343-18616501 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 18610510 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 340 (N340T)

Ref Sequence

ENSEMBL: ENSMUSP00000056586 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057810
AA Change: N340T

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056586
Gene: ENSMUSG00000074359
AA Change: N340T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot2	C	T	12: 83,988,022	R41W	probably benign	Het
Adam32	T	A	8: 24,922,276	H88L	probably benign	Het
Ank1	A	G	8: 23,087,960	T238A	probably damaging	Het
Arid1b	T	C	17: 5,342,255	L1967P	probably damaging	Het
Bbx	G	T	16: 50,262,434	H216Q	probably damaging	Het
C030005K15Rik	G	A	10: 97,725,752	T39M	probably damaging	Het
C1s2	A	G	6: 124,625,287	V655A	probably benign	Het
Carmil2	A	G	8: 105,688,274	Y184C	probably damaging	Het
Ces1f	G	A	8: 93,274,141	A125V	possibly damaging	Het
Chaf1a	C	T	17: 56,047,339	T203I	unknown	Het
Cntn5	A	G	9: 9,984,177	S144P	probably damaging	Het
Cpa5	A	T	6: 30,631,395	Y436F	probably damaging	Het
Dbf4	A	T	5: 8,410,010	H150Q	possibly damaging	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Dock8	A	T	19: 25,163,500	D1360V	possibly damaging	Het
Ecm1	A	T	3: 95,734,376	I515N	probably benign	Het
Fancc	A	T	13: 63,400,259	C75*	probably null	Het
Foxa1	A	T	12: 57,542,747	V229D	probably damaging	Het
Gga1	T	C	15: 78,888,244	M248T	probably damaging	Het
Gm1527	A	G	3: 28,926,470	Q573R	probably benign	Het
Gm5615	A	T	9: 36,534,451	F68Y	probably benign	Het
Hivep1	A	C	13: 42,158,814	H1510P	probably benign	Het
Htr1f	A	C	16: 64,926,794	I45S	probably damaging	Het
Itsn1	T	C	16: 91,801,566	V129A	possibly damaging	Het
Klrg2	G	T	6: 38,628,089	Q347K	possibly damaging	Het
Lama2	G	A	10: 27,056,615	T1996I	probably benign	Het
Man1a	C	A	10: 54,030,747	L219F	possibly damaging	Het
Mcub	A	G	3: 129,918,623	I201T	probably damaging	Het
Olfr1494	A	G	19: 13,749,346	D80G	probably benign	Het
Otogl	A	G	10: 107,869,567	L633P	probably damaging	Het
Pik3ca	T	A	3: 32,443,613	L429*	probably null	Het
Pkhd1l1	T	C	15: 44,526,053		probably null	Het
Pld4	C	A	12: 112,765,123	Q237K	probably damaging	Het
Plekhm2	T	C	4: 141,628,046	E897G	probably damaging	Het
Pomt2	A	G	12: 87,122,882	F475L	probably benign	Het
Popdc3	G	A	10: 45,315,182	A130T	probably benign	Het
Prss54	T	C	8: 95,559,669	K259E	probably benign	Het
Rab1a	G	T	11: 20,215,673	G23*	probably null	Het
Rgs9	A	T	11: 109,275,620	F108Y	probably damaging	Het
Scn9a	T	A	2: 66,484,560	T1605S	possibly damaging	Het
Sh2d4b	G	A	14: 40,840,251	T319I	probably damaging	Het
Slc28a3	A	T	13: 58,578,403		probably null	Het
Syngap1	A	T	17: 26,970,528	Q1286L		Het
Tmem132d	G	A	5: 127,783,916	T1047I	probably damaging	Het
Togaram2	G	A	17: 71,700,940	R420H	probably damaging	Het
Uimc1	G	A	13: 55,093,267	R3*	probably null	Het
Vmn2r7	C	T	3: 64,691,526	V537I	probably benign	Het
Wwp1	T	A	4: 19,635,328	K584N	probably damaging	Het
Zc3h12d	A	T	10: 7,839,959	Q42L	possibly damaging	Het
Zfp729a	A	T	13: 67,621,450	V220E	probably benign	Het
Zfp91	A	G	19: 12,771,039	V391A	probably damaging	Het

Other mutations in Psg23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00814:Psg23	APN	7	18614683	nonsense	probably null
IGL01309:Psg23	APN	7	18614540	missense	probably damaging	1.00
IGL01736:Psg23	APN	7	18612197	missense	possibly damaging	0.76
IGL02142:Psg23	APN	7	18610420	missense	probably benign	0.01
IGL02728:Psg23	APN	7	18606928	missense	probably benign	0.02
IGL03080:Psg23	APN	7	18606985	missense	probably damaging	1.00
IGL03130:Psg23	APN	7	18610416	missense	probably benign	0.25
R0113:Psg23	UTSW	7	18612002	missense	probably benign	0.31
R0137:Psg23	UTSW	7	18614633	missense	probably benign	0.00
R0544:Psg23	UTSW	7	18614682	missense	probably damaging	1.00
R1368:Psg23	UTSW	7	18614720	missense	probably benign	0.13
R1840:Psg23	UTSW	7	18610438	missense	possibly damaging	0.67
R1869:Psg23	UTSW	7	18614618	missense	probably benign	0.09
R1875:Psg23	UTSW	7	18610450	missense	probably benign	0.10
R2041:Psg23	UTSW	7	18614778	missense	possibly damaging	0.78
R2096:Psg23	UTSW	7	18614743	missense	probably damaging	1.00
R3110:Psg23	UTSW	7	18610444	missense	possibly damaging	0.72
R3112:Psg23	UTSW	7	18610444	missense	possibly damaging	0.72
R3790:Psg23	UTSW	7	18612201	missense	probably benign	0.00
R3892:Psg23	UTSW	7	18612041	missense	probably damaging	1.00
R4074:Psg23	UTSW	7	18607118	missense	possibly damaging	0.66
R4200:Psg23	UTSW	7	18612065	missense	probably damaging	1.00
R4865:Psg23	UTSW	7	18612114	missense	probably benign	0.14
R5337:Psg23	UTSW	7	18612072	missense	probably benign	0.00
R6016:Psg23	UTSW	7	18612187	missense	probably benign	0.00
R6951:Psg23	UTSW	7	18614711	missense	probably damaging	1.00
R7033:Psg23	UTSW	7	18614744	missense	possibly damaging	0.82
R7212:Psg23	UTSW	7	18607139	missense	probably benign	0.00
R7427:Psg23	UTSW	7	18611983	splice site	probably null
R7527:Psg23	UTSW	7	18614774	missense	probably damaging	1.00
R7814:Psg23	UTSW	7	18606914	makesense	probably null
R7897:Psg23	UTSW	7	18607183	missense	possibly damaging	0.83
R8155:Psg23	UTSW	7	18612254	missense	probably damaging	1.00
R8358:Psg23	UTSW	7	18614597	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATGTATGCCCTGCAGTAAGTG -3'
(R):5'- TGCTGAAGGGGAAAGTGTTC -3'

Sequencing Primer
(F):5'- CTTCAGAGTCCACTAATGAAGTAGG -3'
(R):5'- AAGGGGAAAGTGTTCTTCTCCAG -3'

Posted On

2019-12-20