Mutagenetix > Incidental Mutation

Incidental Mutation 'R7075:Psg21'

549157

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: 0.049) question?

Stock #

R7075 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18646736-18656725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18654861 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 102 (N102S)

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: N102S

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

SMART Domains

Protein: ENSMUSP00000092387
Gene: ENSMUSG00000070796
AA Change: N102S

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: N102S

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

SMART Domains

Protein: ENSMUSP00000138173
Gene: ENSMUSG00000070796
AA Change: N102S

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (60/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp1	A	T	12: 85,279,008	H72Q	unknown	Het
Afmid	T	A	11: 117,835,705	D218E	probably benign	Het
Ankhd1	T	C	18: 36,559,989	V1A		Het
Atf7ip	T	C	6: 136,596,515		probably null	Het
BC024139	C	T	15: 76,124,399	V326I	probably benign	Het
Bfsp1	T	A	2: 143,848,965	Q159L	probably damaging	Het
Cct2	A	T	10: 117,061,465	W125R	unknown	Het
Cnksr3	G	T	10: 7,152,931	T147K	probably benign	Het
Colq	C	G	14: 31,552,909	G101R	probably damaging	Het
Dlg5	G	T	14: 24,177,797	T352K	possibly damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
Ebna1bp2	T	C	4: 118,622,102	V119A	probably benign	Het
Eif2ak4	C	T	2: 118,420,810	Q318*	probably null	Het
Eif2b1	G	A	5: 124,571,251	T286M	probably damaging	Het
Fam53b	G	T	7: 132,759,623	D225E	probably damaging	Het
Fh1	A	G	1: 175,607,855	I354T	probably benign	Het
Fnbp1	T	C	2: 31,058,914	H206R	probably benign	Het
Gabrg3	A	T	7: 57,323,696	D74E	probably damaging	Het
Galnt18	A	T	7: 111,556,388	V246E	possibly damaging	Het
Glt6d1	T	C	2: 25,795,280	R44G	probably benign	Het
Gm17087	T	C	17: 8,566,803	M23V	probably benign	Het
Gpr160	A	T	3: 30,896,777	I333L	possibly damaging	Het
Hars	T	C	18: 36,772,355	N142S	possibly damaging	Het
Hmgcll1	T	C	9: 76,056,552	V97A	possibly damaging	Het
Itih4	T	G	14: 30,892,603	V474G	probably damaging	Het
Keap1	C	T	9: 21,231,256	V568I	probably benign	Het
Kifc5b	A	G	17: 26,925,898	M633V	probably benign	Het
Lsm4	A	G	8: 70,677,785	E18G	probably damaging	Het
Meox1	T	A	11: 101,893,743	Q88L	probably damaging	Het
Mettl25	T	C	10: 105,829,924	N147S	possibly damaging	Het
Mphosph9	A	C	5: 124,320,859	W83G	probably damaging	Het
Olfr1006	T	A	2: 85,674,824	Y109F		Het
Olfr1098	T	G	2: 86,922,646	K295N	possibly damaging	Het
Olfr344	T	C	2: 36,569,180	I194T	probably benign	Het
Olfr862	T	A	9: 19,884,063	M81L	probably benign	Het
Olfr878	T	C	9: 37,919,074	V139A	probably benign	Het
Olfr992	T	C	2: 85,400,200	D111G	probably damaging	Het
Otogl	G	T	10: 107,778,929	T1954K	probably benign	Het
Padi2	T	C	4: 140,933,217	V336A	probably damaging	Het
Phf21a	C	T	2: 92,360,379	Q675*	probably null	Het
Ppip5k1	T	C	2: 121,321,750	E1092G	probably damaging	Het
Ralgapa1	C	A	12: 55,820,723	Q15H	possibly damaging	Het
Rbm26	A	T	14: 105,160,607	D26E	unknown	Het
Rbp4	T	C	19: 38,124,061	Y152C	probably damaging	Het
Recql4	A	G	15: 76,706,424	V646A	possibly damaging	Het
Rnf220	A	T	4: 117,285,882	M63K	probably benign	Het
Selenok	T	C	14: 29,970,067	S21P	probably damaging	Het
Senp1	A	G	15: 98,058,326	V404A	probably benign	Het
Sh3yl1	A	G	12: 30,940,166		probably null	Het
Snx32	A	G	19: 5,496,990	L275P	probably damaging	Het
Ssfa2	T	A	2: 79,635,660	S41T	probably damaging	Het
Stat5a	T	C	11: 100,879,693	V519A	possibly damaging	Het
Tbc1d10b	A	T	7: 127,203,238	V388E	possibly damaging	Het
Tdrd6	A	G	17: 43,625,174	V1661A	probably benign	Het
Tmem63a	T	A	1: 180,961,149	F350L	probably damaging	Het
Trio	A	T	15: 27,898,000	I401K	unknown	Het
Ttn	T	C	2: 76,716,829	E32291G	probably damaging	Het
Tubgcp5	G	T	7: 55,829,407	V1002L	probably benign	Het
Vav3	C	T	3: 109,525,924	T410I	possibly damaging	Het
Vmn1r1	A	T	1: 182,158,032	F23I	probably benign	Het
Vmn2r84	T	A	10: 130,391,072	Q299L	probably damaging	Het
Vmn2r85	T	A	10: 130,422,688	E499D	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
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
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'- AGGCCTGATACTTCTATGTGCC -3'
(R):5'- CACCACTGCTAGTGTCACCATC -3'

Sequencing Primer
(F):5'- CCTGATACTTCTATGTGCCGAGTG -3'
(R):5'- GCTAGTGTCACCATCCAGTCAC -3'

Posted On

2019-05-15