Mutagenetix > Incidental Mutation

Incidental Mutation 'R9119:Psg21'

692680

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: 0.047) question?

Stock #

R9119 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18646736-18656725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 18647484 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 378 (K378T)

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: K378T

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000092387
Gene: ENSMUSG00000070796
AA Change: K378T

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: 99.0%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	G	17: 35,893,071	S185T	probably benign	Het
4932415D10Rik	T	C	10: 82,295,719	T486A	probably benign	Het
Aass	A	T	6: 23,094,001	M517K	probably benign	Het
Abcc4	A	G	14: 118,631,030	V245A	probably benign	Het
Adgrv1	A	G	13: 81,510,876	V2783A	probably damaging	Het
Anxa3	T	A	5: 96,828,698	I181N		Het
Ap4m1	T	A	5: 138,176,041		probably benign	Het
C1ql1	T	A	11: 102,946,053	K137*	probably null	Het
Camkmt	T	A	17: 85,096,560	L70Q	probably damaging	Het
Ceacam18	T	C	7: 43,639,485	L220P	probably benign	Het
Celsr2	C	T	3: 108,401,972	A1656T	possibly damaging	Het
Dnah6	T	C	6: 73,060,203	N3352S	possibly damaging	Het
Fbxo40	C	A	16: 36,966,095	R704L	probably damaging	Het
Fcho1	C	T	8: 71,712,068	G523E	possibly damaging	Het
Gas2l3	T	C	10: 89,413,457	T600A	possibly damaging	Het
Ggh	T	A	4: 20,057,955	M172K	probably damaging	Het
Gm10184	T	C	17: 89,910,193	K42E	probably damaging	Het
Gpr137	G	A	19: 6,938,443	T373I	probably benign	Het
Mtnr1a	G	A	8: 45,087,966	M321I	probably benign	Het
Nebl	T	G	2: 17,400,559	N383T	probably damaging	Het
Nob1	A	G	8: 107,416,144	S302P	probably damaging	Het
Ofcc1	A	T	13: 40,180,540	H358Q	probably benign	Het
Olfr1414	G	T	1: 92,511,182	T282K	probably damaging	Het
Pkd1l1	G	A	11: 8,879,107	T1495I		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plcb4	G	A	2: 135,967,952	E609K	probably damaging	Het
Plxnd1	A	T	6: 115,955,871		probably benign	Het
Prdm2	G	A	4: 143,131,879	Q1614*	probably null	Het
Ptprh	T	A	7: 4,552,713	N749I	probably benign	Het
Ric8b	T	G	10: 84,947,470	V64G	possibly damaging	Het
Sbf2	T	C	7: 110,312,085	T1793A	possibly damaging	Het
Scgb1c1	A	G	7: 140,846,222	H77R	probably null	Het
Sfswap	C	A	5: 129,514,765	T282N	probably benign	Het
Sorcs3	A	T	19: 48,653,994	Y362F	possibly damaging	Het
Tpm4	A	G	8: 72,138,681	N76D	probably benign	Het
Tpr	T	A	1: 150,404,002	L294Q	probably damaging	Het
Ttc3	C	T	16: 94,392,091	T237I	probably damaging	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Ugt2a2	A	G	5: 87,462,975	V334A	probably damaging	Het
Usp38	A	T	8: 80,984,599	F936I	probably damaging	Het
Utp14b	A	G	1: 78,665,308	K308E	probably damaging	Het
Vmn2r19	C	T	6: 123,315,568	P190S	possibly damaging	Het
Zbbx	T	C	3: 75,078,590	E385G	probably 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
R7588:Psg21	UTSW	7	18647209	missense	probably benign	0.00
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
R9446:Psg21	UTSW	7	18654940	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGGCCTCACATTGATACTCTCC -3'
(R):5'- GGCTGAGTCAGGATCATACAG -3'

Sequencing Primer
(F):5'- CCTCACAGTATGTATCCTGAGTTGG -3'
(R):5'- CTGAGTCAGGATCATACAGTTTGTAG -3'

Posted On

2021-12-30