Mutagenetix > Incidental Mutation

Incidental Mutation 'R7830:Psg21'

602369

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 #

R7830 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18646736-18656725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18647298 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 440 (V440E)

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: V440E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092387
Gene: ENSMUSG00000070796
AA Change: V440E

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: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	A	G	18: 12,168,871	N24S	probably benign	Het
4932438A13Rik	CCAGATTCATGTAGCA	CCA	3: 36,964,932		probably null	Het
Adat3	T	C	10: 80,606,820	L164P	probably damaging	Het
Aldh16a1	A	T	7: 45,146,225	L388Q	probably damaging	Het
Angpt1	T	C	15: 42,676,268	N65S	probably damaging	Het
Ankrd54	G	A	15: 79,054,050	T287I	probably damaging	Het
Cc2d2b	T	A	19: 40,765,357	V108E	possibly damaging	Het
Cntnap5c	A	T	17: 58,162,250	D609V	probably damaging	Het
Col6a4	G	T	9: 106,075,390	D436E	probably damaging	Het
Cul9	A	T	17: 46,540,311	D394E	probably benign	Het
Cyfip1	A	G	7: 55,873,462	E75G	probably damaging	Het
Efr3a	G	A	15: 65,829,830	V198I	probably benign	Het
Eif2ak2	C	T	17: 78,866,403	G249S	probably damaging	Het
Erich4	A	T	7: 25,615,724	M42K	probably benign	Het
Fig4	A	C	10: 41,256,466	V448G	probably benign	Het
Gas1	T	C	13: 60,176,034	D303G	probably damaging	Het
Gm609	A	T	16: 45,442,554	I187N	probably damaging	Het
Golgb1	T	G	16: 36,898,721	Y330D	possibly damaging	Het
Gpr146	C	T	5: 139,392,602	A53V	probably benign	Het
Klk1b27	A	C	7: 44,055,726	M106L	probably benign	Het
Lipc	T	C	9: 70,812,901	T190A	probably damaging	Het
Lrrc4b	A	G	7: 44,461,807	I368V	possibly damaging	Het
Mmp10	A	T	9: 7,507,283	Q368L	probably benign	Het
Myo10	T	A	15: 25,737,971	Y501*	probably null	Het
Neb	T	A	2: 52,165,189	H6445L	probably benign	Het
Numa1	T	A	7: 101,999,285	M741K	probably benign	Het
Nxn	T	A	11: 76,273,993	I231F	probably damaging	Het
Olfr1471	T	C	19: 13,445,621	L203S	probably benign	Het
Olfr341	A	G	2: 36,479,380	L250P	probably damaging	Het
Osbp2	A	G	11: 3,863,414	S152P	probably benign	Het
P3h4	T	C	11: 100,414,043	T173A	probably damaging	Het
Pcdh15	C	A	10: 74,385,901	R678S	probably damaging	Het
Pcdhb6	C	A	18: 37,336,312	T762K	probably benign	Het
Pnrc1	G	A	4: 33,248,057	P114L	probably damaging	Het
Ppp3ca	T	A	3: 136,868,720	S126R	probably damaging	Het
Prl3d2	C	T	13: 27,126,017	T155I	probably benign	Het
Prune2	C	A	19: 17,122,674	N1847K	probably benign	Het
Rag1	A	G	2: 101,642,059	S913P	probably damaging	Het
Ros1	T	A	10: 52,154,934	H525L	probably damaging	Het
Scarb1	T	C	5: 125,287,383	Y94C	probably damaging	Het
Serpinb6a	T	G	13: 33,930,047	D120A	probably benign	Het
Sik3	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	9: 46,212,057		probably benign	Het
Slc39a14	T	C	14: 70,310,117	D299G	probably benign	Het
Sox1	G	A	8: 12,396,955	A199T	probably damaging	Het
Strc	T	A	2: 121,375,049	I867F	probably damaging	Het
Tfrc	A	G	16: 32,619,167	K346R	probably benign	Het
Usf3	C	T	16: 44,219,779	Q1541*	probably null	Het
Wrn	G	A	8: 33,269,054	L716F	probably damaging	Het
Zfp141	G	A	7: 42,475,188	T620I	probably benign	Het
Zfp354b	A	T	11: 50,923,309	I263K	probably benign	Het
Zfp804b	T	A	5: 6,771,124	E646D	probably benign	Het
Zfp970	G	T	2: 177,475,545	C304F	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
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'- ATAGTGAGCAGAGCAGTGTG -3'
(R):5'- GCCATGAGAGTCACGGACA -3'

Sequencing Primer
(F):5'- TCCAGTACCAAGATAGCATGCATGG -3'
(R):5'- TCACGGACAGCACAGTTAG -3'

Posted On

2019-12-03