Mutagenetix > Incidental Mutation

Incidental Mutation 'R3414:Psg21'

266731

Institutional Source

Beutler Lab

Gene Symbol

Psg21

Ensembl Gene

ENSMUSG00000070796

Gene Name

pregnancy-specific glycoprotein 21

Synonyms

1600026N13Rik, 1600019C01Rik, 1600025N01Rik, cea8

MMRRC Submission

040632-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R3414 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18646736-18656725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18652380 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 227 (L227Q)

Ref Sequence

ENSEMBL: ENSMUSP00000092387 (fasta)

Gene Model

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

AlphaFold

Q9DAV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000094793
AA Change: L227Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092387
Gene: ENSMUSG00000070796
AA Change: L227Q

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 damaging
Transcript: ENSMUST00000182128
AA Change: L227Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138173
Gene: ENSMUSG00000070796
AA Change: L227Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182933

Meta Mutation Damage Score

0.4406

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,661,602	Q802L	probably benign	Het
Atp8b4	C	A	2: 126,375,757	W613L	probably damaging	Het
AW554918	C	A	18: 25,400,072	T261K	possibly damaging	Het
Cttnbp2	A	G	6: 18,389,205	V1178A	probably benign	Het
Ddx18	T	C	1: 121,562,149	N177S	probably benign	Het
Dhx29	A	G	13: 112,947,273	K621E	probably damaging	Het
Diexf	A	C	1: 193,128,502	S64R	possibly damaging	Het
Eef2	G	T	10: 81,177,858	R66L	probably damaging	Het
Ergic2	A	G	6: 148,206,681		probably benign	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Hace1	T	A	10: 45,648,675	D234E	possibly damaging	Het
Ifi202b	A	G	1: 173,963,913	S400P	probably benign	Het
Ighv1-23	C	T	12: 114,764,467	V112I	probably benign	Het
Il4i1	T	C	7: 44,836,658	L22P	probably damaging	Het
Il7	G	T	3: 7,576,033	Q67K	probably benign	Het
Inpp5d	C	A	1: 87,668,057	T175N	possibly damaging	Het
Klk1b26	A	G	7: 44,016,873	I247V	probably benign	Het
Klrc1	A	G	6: 129,677,763		probably null	Het
Lama1	T	C	17: 67,737,603	C166R	probably damaging	Het
Mrps5	A	G	2: 127,596,912	D219G	probably benign	Het
Mtus1	T	C	8: 41,048,063	T806A	probably damaging	Het
Naip2	G	A	13: 100,189,263	R46*	probably null	Het
Nos2	A	T	11: 78,957,588	Y1107F	probably benign	Het
Nsd3	T	C	8: 25,700,019	I135T	probably damaging	Het
Olfr156	C	T	4: 43,821,258	M34I	probably benign	Het
Olfr710	G	T	7: 106,944,176	S275*	probably null	Het
Olfr808	A	G	10: 129,768,432	H312R	probably benign	Het
Pla2g4f	T	C	2: 120,303,106	S579G	probably benign	Het
Ppip5k1	A	T	2: 121,327,661	S252R	probably damaging	Het
Proc	T	A	18: 32,123,685	T310S	probably benign	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Sec24a	T	A	11: 51,729,458	N456Y	probably damaging	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Spata13	A	G	14: 60,706,723	T522A	probably benign	Het
Top1mt	T	C	15: 75,657,176	N573S	probably benign	Het
Trim69	T	C	2: 122,178,644	V395A	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Unc13b	T	A	4: 43,234,658		probably benign	Het
Vmn1r2	T	A	4: 3,172,696	M205K	probably damaging	Het
Zfhx4	A	G	3: 5,403,823	K3014E	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
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
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'- ACAGGAGGTAGTCAATGCTAGC -3'
(R):5'- CACTATTGAATCAGTGCCGCC -3'

Sequencing Primer
(F):5'- GTCAATGCTAGCAGTTACAGTGC -3'
(R):5'- TATTGAATCAGTGCCGCCCAGAG -3'

Posted On

2015-02-18