Mutagenetix > Incidental Mutation

Incidental Mutation 'R3112:Psg23'

477859

Institutional Source

Beutler Lab

Gene Symbol

Psg23

Ensembl Gene

ENSMUSG00000074359

Gene Name

pregnancy-specific beta-1-glycoprotein 23

Synonyms

1620401C02Rik

MMRRC Submission

040585-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3112 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

18340268-18350426 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18344369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 362 (D362G)

Ref Sequence

ENSEMBL: ENSMUSP00000056586 (fasta)

Gene Model

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

AlphaFold

Q9D2U0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057810
AA Change: D362G

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000056586
Gene: ENSMUSG00000074359
AA Change: D362G

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (38/38)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,069,655 (GRCm39)	K1554*	probably null	Het
Acads	T	C	5: 115,255,757 (GRCm39)	H26R	probably benign	Het
Acer1	G	A	17: 57,265,406 (GRCm39)	T141I	probably damaging	Het
Adam15	C	G	3: 89,254,764 (GRCm39)	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,368,331 (GRCm39)	V97A	possibly damaging	Het
Anpep	T	C	7: 79,491,720 (GRCm39)	T94A	probably benign	Het
Atp1a3	T	C	7: 24,694,119 (GRCm39)	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,645,721 (GRCm39)	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,002,831 (GRCm39)	W62*	probably null	Het
Ccdc141	C	T	2: 76,869,830 (GRCm39)	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470 (GRCm39)	I278K	possibly damaging	Het
Cdc7	T	G	5: 107,122,564 (GRCm39)		probably null	Het
Cpb1	C	T	3: 20,319,521 (GRCm39)	V188M	probably damaging	Het
Dock5	A	G	14: 68,095,371 (GRCm39)	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,035,953 (GRCm39)	V95A	probably damaging	Het
Dvl1	T	A	4: 155,938,123 (GRCm39)	D90E	probably damaging	Het
Fam135b	T	C	15: 71,335,879 (GRCm39)	I438M	probably benign	Het
Fpr1	A	T	17: 18,096,897 (GRCm39)	M364K	probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Gpx7	C	A	4: 108,260,470 (GRCm39)	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,591 (GRCm39)		probably null	Het
Grn	A	G	11: 102,324,069 (GRCm39)	T53A	probably benign	Het
H1f4	T	C	13: 23,805,829 (GRCm39)		probably benign	Het
H2-T9	T	C	17: 36,440,038 (GRCm39)	Y32C	probably damaging	Het
Hmgxb3	T	C	18: 61,280,454 (GRCm39)	N683S	probably damaging	Het
Iigp1	T	C	18: 60,523,983 (GRCm39)	I367T	probably benign	Het
Itfg2	T	C	6: 128,388,632 (GRCm39)	E285G	probably damaging	Het
Itgav	T	A	2: 83,622,915 (GRCm39)	C662*	probably null	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Lipe	T	C	7: 25,097,848 (GRCm39)	T32A	probably benign	Het
Lrrk2	A	G	15: 91,698,898 (GRCm39)	Y2475C	probably benign	Het
Mcc	T	C	18: 44,582,330 (GRCm39)	D607G	probably damaging	Het
Mip	T	A	10: 128,061,875 (GRCm39)	L42*	probably null	Het
Mlc1	A	T	15: 88,850,199 (GRCm39)	D192E	probably benign	Het
Muc2	T	C	7: 141,299,225 (GRCm39)		probably benign	Het
Mybl1	T	C	1: 9,752,095 (GRCm39)	D260G	probably damaging	Het
Ncln	C	T	10: 81,323,519 (GRCm39)	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,257,297 (GRCm39)	V305A	probably benign	Het
Nodal	G	A	10: 61,260,276 (GRCm39)	R309Q	possibly damaging	Het
Olr1	T	C	6: 129,476,881 (GRCm39)	N128S	possibly damaging	Het
Or10ak14	A	T	4: 118,611,421 (GRCm39)	F105I	probably damaging	Het
Or12j5	A	G	7: 140,083,832 (GRCm39)	I180T	probably damaging	Het
Or14a256	T	C	7: 86,264,884 (GRCm39)	Y323C	probably benign	Het
Orc1	T	A	4: 108,461,757 (GRCm39)	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,496,922 (GRCm39)	I300F	probably damaging	Het
Pfkfb4	C	T	9: 108,854,110 (GRCm39)		probably benign	Het
Phactr3	T	A	2: 177,920,810 (GRCm39)	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083 (GRCm39)	T612A	probably benign	Het
Plch1	T	A	3: 63,616,952 (GRCm39)	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,054,973 (GRCm39)		probably benign	Het
Potefam1	T	G	2: 111,058,399 (GRCm39)	L131F	probably damaging	Het
Ppp1r12b	T	A	1: 134,800,570 (GRCm39)	T547S	probably damaging	Het
Prkcb	T	A	7: 122,116,079 (GRCm39)	M186K	probably damaging	Het
Prpf3	A	T	3: 95,757,112 (GRCm39)		probably benign	Het
Reg3a	T	C	6: 78,358,114 (GRCm39)	L15P	probably damaging	Het
Scrib	A	T	15: 75,941,223 (GRCm39)	I5N	probably damaging	Het
Speg	C	T	1: 75,399,326 (GRCm39)	Q2005*	probably null	Het
Sppl3	A	T	5: 115,212,923 (GRCm39)	S51C	possibly damaging	Het
Sspo	A	G	6: 48,434,534 (GRCm39)	T1009A	probably damaging	Het
Syce1l	A	G	8: 114,381,579 (GRCm39)	Q164R	probably benign	Het
Sympk	T	C	7: 18,768,409 (GRCm39)	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,844,987 (GRCm39)	I6K	unknown	Het
Tas2r120	A	T	6: 132,634,731 (GRCm39)	H271L	probably damaging	Het
Tlcd3a	A	G	11: 76,093,057 (GRCm39)	D33G	probably benign	Het
Tnn	T	A	1: 159,943,856 (GRCm39)	T986S	possibly damaging	Het
Trim5	T	C	7: 103,928,845 (GRCm39)	H32R	probably damaging	Het
Ttc13	A	G	8: 125,410,573 (GRCm39)	I360T	possibly damaging	Het
Uaca	A	G	9: 60,778,781 (GRCm39)	E1054G	probably damaging	Het
Usp16	T	A	16: 87,268,736 (GRCm39)		probably null	Het
Wee1	T	A	7: 109,730,043 (GRCm39)	S382R	probably damaging	Het
Wnt11	T	C	7: 98,495,771 (GRCm39)	S92P	probably damaging	Het
Zfp1004	C	G	2: 150,034,141 (GRCm39)	P185R	probably damaging	Het
Zfp786	A	G	6: 47,797,160 (GRCm39)	C593R	probably damaging	Het
Zfp879	T	G	11: 50,723,989 (GRCm39)	I283L	possibly damaging	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
R1368:Psg23	UTSW	7	18,348,645 (GRCm39)	missense	probably benign	0.13
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
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

Posted On

2017-05-15