Mutagenetix > Incidental Mutation

Incidental Mutation 'R7588:Psg21'

587256

Institutional Source

Beutler Lab

Gene Symbol

Psg21

Ensembl Gene

ENSMUSG00000070796

Gene Name

pregnancy-specific glycoprotein 21

Synonyms

1600026N13Rik, 1600019C01Rik, 1600025N01Rik, cea8

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R7588 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18646736-18656725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18647209 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 470 (N470D)

Ref Sequence

ENSEMBL: ENSMUSP00000092387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094793] [ENSMUST00000182128]

AlphaFold

Q9DAV5

Predicted Effect

probably benign
Transcript: ENSMUST00000094793
AA Change: N470D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092387
Gene: ENSMUSG00000070796
AA Change: N470D

Domain	Start	End	E-Value	Type
IG	39	138	3.04e-3	SMART
IG	159	260	7.25e-1	SMART
IG	276	375	1.25e-4	SMART
IGc2	393	457	1.47e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182128

SMART Domains

Protein: ENSMUSP00000138173
Gene: ENSMUSG00000070796

Domain	Start	End	E-Value	Type
IG	39	138	3.04e-3	SMART
IG	159	260	7.25e-1	SMART
IG	276	375	1.25e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	T	C	17: 28,905,456	K291E	probably benign	Het
Ap2b1	T	A	11: 83,324,522	D97E	probably benign	Het
Apbb1	G	T	7: 105,573,966	P146Q	probably benign	Het
Aste1	T	A	9: 105,397,391	S277T	possibly damaging	Het
Cdk15	A	G	1: 59,344,299	D415G	possibly damaging	Het
Cep152	T	A	2: 125,569,626	E1256D	probably damaging	Het
Chd7	A	G	4: 8,864,039	N2643S	probably damaging	Het
Copg2	A	G	6: 30,811,591		probably null	Het
D130043K22Rik	T	A	13: 24,887,893	I940N	probably damaging	Het
Dnmt3a	A	G	12: 3,896,080	T312A	possibly damaging	Het
Dock5	A	G	14: 67,763,158		probably null	Het
Fam83g	A	T	11: 61,684,696	I55F	probably damaging	Het
Fanci	T	C	7: 79,434,269	F780L	possibly damaging	Het
Fhod3	G	T	18: 25,090,248	A884S	probably benign	Het
Gas6	T	C	8: 13,466,711	S596G	probably benign	Het
Gns	T	C	10: 121,390,658	V404A	probably benign	Het
Gpatch1	T	C	7: 35,291,748	N624D	probably damaging	Het
Hmcn1	T	C	1: 150,657,134	I3099M	possibly damaging	Het
Itga1	A	T	13: 114,968,249	S1080R	possibly damaging	Het
Kcnk15	T	C	2: 163,858,306	V155A	probably damaging	Het
Luzp2	T	A	7: 55,075,090		probably null	Het
Mapk8ip1	T	A	2: 92,386,639	D446V	possibly damaging	Het
Med1	T	C	11: 98,155,572	E1466G	unknown	Het
Mug1	A	G	6: 121,875,517	R855G	probably damaging	Het
Naalad2	C	A	9: 18,351,479	V374F	probably damaging	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Nlrp5	A	G	7: 23,408,151	E83G	probably benign	Het
Nod2	T	C	8: 88,674,908	F901S	possibly damaging	Het
Nps	T	C	7: 135,268,779	V10A	probably benign	Het
Pbrm1	T	A	14: 31,084,943	V1109E	probably damaging	Het
Pcdh7	A	G	5: 57,719,904	D267G	probably damaging	Het
Pfkp	A	G	13: 6,648,637	Y15H	possibly damaging	Het
Ppm1b	T	C	17: 85,013,569	S380P	probably benign	Het
Qrich2	T	C	11: 116,465,937	N29D	possibly damaging	Het
Reln	T	C	5: 21,885,568	T3431A	probably benign	Het
Rfc1	A	G	5: 65,272,507	V852A	probably damaging	Het
Rttn	T	G	18: 89,064,229	D1426E	probably damaging	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Styxl1	G	A	5: 135,770,276	P28L	probably damaging	Het
Tcl1b4	A	G	12: 105,202,382		probably benign	Het
Tmem8	T	C	17: 26,122,043	Y176H	probably damaging	Het
Trav17	A	G	14: 53,806,845	D24G	probably benign	Het
Trim28	A	C	7: 13,029,420	D496A	probably damaging	Het
Trim29	T	C	9: 43,335,128	Y574H	probably damaging	Het
Trip12	G	T	1: 84,760,883	F750L	probably damaging	Het
Ubr3	C	A	2: 69,971,169	T1007K	probably damaging	Het
Zzz3	A	G	3: 152,422,768	Y7C	possibly damaging	Het

Other mutations in Psg21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01571:Psg21	APN	7	18654825	missense	probably damaging	1.00
IGL02390:Psg21	APN	7	18652631	missense	probably benign	0.11
IGL02548:Psg21	APN	7	18655036	missense	possibly damaging	0.89
IGL03001:Psg21	APN	7	18652485	missense	probably benign	0.03
IGL03135:Psg21	APN	7	18654918	missense	probably benign	0.00
R0131:Psg21	UTSW	7	18654868	missense	probably benign	0.39
R0551:Psg21	UTSW	7	18652640	critical splice acceptor site	probably null
R1512:Psg21	UTSW	7	18656500	missense	probably benign	0.00
R1874:Psg21	UTSW	7	18650816	missense	probably benign	0.15
R1993:Psg21	UTSW	7	18654770	missense	probably benign	0.04
R2327:Psg21	UTSW	7	18652453	missense	possibly damaging	0.61
R3414:Psg21	UTSW	7	18652380	missense	probably damaging	1.00
R4422:Psg21	UTSW	7	18647332	missense	probably damaging	1.00
R5138:Psg21	UTSW	7	18656528	start codon destroyed	probably null	0.94
R5623:Psg21	UTSW	7	18655014	missense	probably damaging	1.00
R5686:Psg21	UTSW	7	18652258	intron	probably benign
R6166:Psg21	UTSW	7	18656739	unclassified	probably benign
R6177:Psg21	UTSW	7	18652354	missense	possibly damaging	0.64
R6190:Psg21	UTSW	7	18655001	missense	possibly damaging	0.61
R6210:Psg21	UTSW	7	18652345	missense	probably damaging	1.00
R6482:Psg21	UTSW	7	18654739	splice site	probably null
R6729:Psg21	UTSW	7	18652591	missense	probably damaging	1.00
R6866:Psg21	UTSW	7	18652284	missense	probably damaging	1.00
R6992:Psg21	UTSW	7	18654743	critical splice donor site	probably null
R7075:Psg21	UTSW	7	18654861	missense	probably damaging	1.00
R7081:Psg21	UTSW	7	18654849	nonsense	probably null
R7098:Psg21	UTSW	7	18652545	missense	probably damaging	1.00
R7582:Psg21	UTSW	7	18647203	makesense	probably null
R7607:Psg21	UTSW	7	18654783	missense	probably benign	0.02
R7830:Psg21	UTSW	7	18647298	missense	probably damaging	1.00
R7964:Psg21	UTSW	7	18647211	missense	probably benign	0.01
R8758:Psg21	UTSW	7	18650753	missense	probably damaging	1.00
R8972:Psg21	UTSW	7	18647368	missense	probably benign	0.03
R8988:Psg21	UTSW	7	18652464	missense	probably benign	0.00
R9119:Psg21	UTSW	7	18647484	missense	probably benign	0.14
R9446:Psg21	UTSW	7	18654940	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCACTGTGCAACAATAGTGAG -3'
(R):5'- CCGTTGGCTCTTCAACAATCAG -3'

Sequencing Primer
(F):5'- ACAGACATTGTGGTACCATATGCTCC -3'
(R):5'- GGCTCTTCAACAATCAGAGTCTG -3'

Posted On

2019-10-24