Mutagenetix > Incidental Mutation

Incidental Mutation 'R4422:Psg21'

327146

Institutional Source

Beutler Lab

Gene Symbol

Psg21

Ensembl Gene

ENSMUSG00000070796

Gene Name

pregnancy-specific glycoprotein 21

Synonyms

1600026N13Rik, 1600019C01Rik, 1600025N01Rik, cea8

MMRRC Submission

041695-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4422 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18646736-18656725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18647332 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 429 (S429P)

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: S429P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000092387
Gene: ENSMUSG00000070796
AA Change: S429P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182228

Meta Mutation Damage Score

0.6784

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (67/70)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	T	C	2: 27,005,400	S1168P	probably benign	Het
Adgrf2	T	C	17: 42,713,155	M142V	probably benign	Het
Akna	G	T	4: 63,387,093	Q479K	possibly damaging	Het
Arhgef9	T	G	X: 95,101,064	I131L	possibly damaging	Het
AW551984	A	T	9: 39,600,077	C111S	probably null	Het
Bak1	C	A	17: 27,021,324	G130W	probably damaging	Het
Bank1	T	A	3: 136,083,211	Q441L	probably damaging	Het
C030034I22Rik	T	C	17: 69,418,158		noncoding transcript	Het
Capns2	T	A	8: 92,901,624	I47N	possibly damaging	Het
Cct7	A	G	6: 85,467,145	R355G	probably damaging	Het
Cd19	C	T	7: 126,413,406	V272I	probably benign	Het
Cenpf	A	G	1: 189,658,350	L1095S	probably damaging	Het
Cep44	G	A	8: 56,538,617	P317S	probably benign	Het
Chrm3	A	T	13: 9,878,555	Y148*	probably null	Het
Chrnb3	T	C	8: 27,396,733	V445A	possibly damaging	Het
Col4a4	T	A	1: 82,489,838	M852L	unknown	Het
Dhx29	T	C	13: 112,947,247	L612P	probably damaging	Het
Dlgap2	T	C	8: 14,743,463		probably null	Het
Dnah17	T	C	11: 118,081,973	T2045A	possibly damaging	Het
Dync1li1	A	G	9: 114,709,309	T245A	probably damaging	Het
Epha4	T	C	1: 77,511,717	E42G	probably damaging	Het
Fam120b	C	A	17: 15,402,183	T141K	probably damaging	Het
Fhod1	T	C	8: 105,337,351		probably benign	Het
Gcnt2	T	G	13: 40,860,525	Y57*	probably null	Het
Gm5409	C	T	6: 41,419,585		noncoding transcript	Het
Hip1r	A	G	5: 123,997,006	K402E	possibly damaging	Het
Hlcs	G	A	16: 94,138,960	P506L	possibly damaging	Het
Itih4	T	A	14: 30,889,864	F142I	probably damaging	Het
Krt78	T	C	15: 101,947,940	T479A	probably benign	Het
Lamb2	A	G	9: 108,483,555	D518G	probably damaging	Het
Ldlr	G	A	9: 21,737,952	C341Y	probably damaging	Het
Lsr	G	T	7: 30,965,997	N177K	probably benign	Het
Macf1	G	A	4: 123,466,046	S1815F	probably damaging	Het
Mms22l	T	C	4: 24,503,008	S95P	probably damaging	Het
Mon2	A	G	10: 123,042,982	L218P	probably damaging	Het
Nlrp4f	C	T	13: 65,184,962		probably null	Het
Nrde2	G	A	12: 100,146,027	Q137*	probably null	Het
Olfr1145	C	A	2: 87,810,645	T275K	probably damaging	Het
Olfr5	G	T	7: 6,481,038	Y39*	probably null	Het
Olfr606	G	T	7: 103,452,243	R302L	probably damaging	Het
Phf24	G	A	4: 42,934,817	C151Y	probably damaging	Het
Pik3r1	T	G	13: 101,694,384	N3T	probably benign	Het
Plcb2	T	C	2: 118,712,003	K821E	probably benign	Het
Ppat	A	G	5: 76,915,214	W517R	probably damaging	Het
Prelid2	T	C	18: 41,912,396	T150A	probably benign	Het
Reg4	T	C	3: 98,233,044	Y114H	possibly damaging	Het
Rsbn1l	G	T	5: 20,896,546	H665Q	probably damaging	Het
Rspo2	T	C	15: 43,169,754	N24S	probably benign	Het
Ryr2	G	T	13: 11,717,066	C2329*	probably null	Het
Skint2	T	A	4: 112,584,588		probably benign	Het
Syvn1	C	T	19: 6,049,921		probably benign	Het
Thegl	T	C	5: 77,054,536	I268T	possibly damaging	Het
Tmem53	T	C	4: 117,265,952	Y37H	probably damaging	Het
Tmem59l	G	A	8: 70,486,099	R111W	probably damaging	Het
Tnks2	G	A	19: 36,845,653	V107I	probably damaging	Het
Tpcn1	T	C	5: 120,542,518	K549R	probably damaging	Het
Tubgcp4	T	A	2: 121,189,401	L404*	probably null	Het
Vmn2r86	T	C	10: 130,452,976	I219V	possibly damaging	Het
Vsig10	T	C	5: 117,324,921	S71P	probably benign	Het
Wnk1	T	C	6: 119,953,895	N896S	probably benign	Het
Zfp871	C	A	17: 32,774,833	S456I	probably benign	Het
Zfp871	T	A	17: 32,774,834	S437C	probably benign	Het
Zfp873	A	G	10: 82,060,874	T480A	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
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'- ATACAGAAATGTCCCTGCCC -3'
(R):5'- ATACAGTTTGTAGGTTGCAGATGC -3'

Sequencing Primer
(F):5'- AGAAATGTCCCTGCCCTGCTATAG -3'
(R):5'- GATGAATGTAATTTGGTCCCCTC -3'

Posted On

2015-07-07