Mutagenetix > Incidental Mutation

Incidental Mutation 'R5623:Psg21'

441680

Institutional Source

Beutler Lab

Gene Symbol

Psg21

Ensembl Gene

ENSMUSG00000070796

Gene Name

pregnancy-specific glycoprotein 21

Synonyms

1600026N13Rik, 1600019C01Rik, 1600025N01Rik, cea8

MMRRC Submission

043162-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18646736-18656725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 18655014 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 51 (L51R)

Ref Sequence

ENSEMBL: ENSMUSP00000138173 (fasta)

Gene Model

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

AlphaFold

Q9DAV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000094793
AA Change: L51R

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

SMART Domains

Protein: ENSMUSP00000092387
Gene: ENSMUSG00000070796
AA Change: L51R

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: L51R

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

SMART Domains

Protein: ENSMUSP00000138173
Gene: ENSMUSG00000070796
AA Change: L51R

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

0.4352

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8b1	T	G	18: 64,546,094	Q772P	possibly damaging	Het
B3gnt2	C	G	11: 22,837,018	A57P	probably damaging	Het
BC067074	T	C	13: 113,346,634	I1590T	possibly damaging	Het
Birc6	T	G	17: 74,528,656	D63E	probably damaging	Het
Ccdc13	T	C	9: 121,833,733	E72G	probably damaging	Het
Cfap221	C	T	1: 119,954,168	A297T	probably benign	Het
Chd1	T	A	17: 15,754,932	N1081K	probably damaging	Het
Chrm3	C	A	13: 9,877,387	V538L	possibly damaging	Het
Clec16a	T	A	16: 10,611,121	N37K	probably benign	Het
Cnksr3	T	A	10: 7,120,548	I229F	probably damaging	Het
Dchs1	T	C	7: 105,772,769	E148G	probably damaging	Het
Diaph1	A	T	18: 37,896,093		probably benign	Het
Dis3l	A	G	9: 64,307,603	F895L	possibly damaging	Het
Dnah1	G	T	14: 31,286,023	D2142E	possibly damaging	Het
Dst	T	C	1: 34,190,133	V1944A	possibly damaging	Het
Eif4a2	C	T	16: 23,110,219		probably benign	Het
Ephb6	T	A	6: 41,616,481	M487K	probably benign	Het
Fgf18	T	G	11: 33,134,272	T61P	probably damaging	Het
G6pc2	A	G	2: 69,226,583	E191G	probably damaging	Het
Gm10717	C	T	9: 3,026,318	S55L	probably benign	Het
Gm5414	A	G	15: 101,625,811	F286S	probably damaging	Het
Gpcpd1	G	T	2: 132,534,717	A553E	probably damaging	Het
Gpr153	A	G	4: 152,281,941	D321G	possibly damaging	Het
Hecw2	T	A	1: 53,832,623	Q1388L	probably null	Het
Ighv14-3	A	C	12: 114,060,090	S36A	probably damaging	Het
Inpp5j	C	A	11: 3,494,766	G969V	probably damaging	Het
Kat5	G	A	19: 5,607,562	R307W	probably damaging	Het
Klk1b21	A	G	7: 44,105,565	S95G	probably damaging	Het
Mdm1	G	A	10: 118,150,789	V171I	possibly damaging	Het
Nfu1	TCGC	T	6: 87,016,206		probably benign	Het
Olfr175-ps1	C	T	16: 58,824,343	R122H	probably benign	Het
Olfr776	G	A	10: 129,261,032	V24M	probably benign	Het
Phkb	T	A	8: 85,843,048		probably benign	Het
Pkd1l3	A	T	8: 109,623,719	T399S	possibly damaging	Het
Prr14l	A	T	5: 32,844,508		probably benign	Het
Ptprg	T	A	14: 12,153,857	I526N	probably damaging	Het
Rab1a	T	C	11: 20,201,626		probably benign	Het
Rims2	A	T	15: 39,478,615	Q620L	probably damaging	Het
Rnf215	T	G	11: 4,135,453	S58A	probably benign	Het
Scaper	A	C	9: 55,864,507	V375G	probably benign	Het
Sgk3	A	T	1: 9,802,295		probably benign	Het
Skiv2l	T	C	17: 34,847,432	K192E	probably benign	Het
Slc34a3	T	A	2: 25,233,300		probably null	Het
Sspn	T	A	6: 145,961,226	C52S	probably damaging	Het
Strip1	T	C	3: 107,626,826	E164G	possibly damaging	Het
Sult5a1	A	C	8: 123,157,442	S47A	probably damaging	Het
Svep1	T	C	4: 58,091,964	D1557G	possibly damaging	Het
Tdrd6	T	C	17: 43,629,333	I275V	probably damaging	Het
Thada	C	T	17: 84,191,983	V1929I	probably benign	Het
Tmem132b	G	A	5: 125,623,352	R318Q	probably damaging	Het
Tmem176b	T	G	6: 48,834,070	I259L	probably benign	Het
Tmppe	C	A	9: 114,405,896	P421Q	possibly damaging	Het
Tmprss11e	G	A	5: 86,709,456	Q333*	probably null	Het
Tpcn2	T	A	7: 145,267,334	R328W	possibly damaging	Het
Trem1	C	T	17: 48,237,055	T36I	probably damaging	Het
Trpm2	C	A	10: 77,932,139	R842L	probably damaging	Het
Zfp319	A	G	8: 95,325,571		probably benign	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
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'- CTGGGTGACATTTTGGATCCATAG -3'
(R):5'- AGAAACGACACCCTCTGAGG -3'

Sequencing Primer
(F):5'- AGGGACCCGTTGCTGTACAATATC -3'
(R):5'- TCATCTCTATTATGGGCACACC -3'

Posted On

2016-11-08