Mutagenetix > Incidental Mutation

Incidental Mutation 'R6166:Psg21'

523282

Institutional Source

Beutler Lab

Gene Symbol

Psg21

Ensembl Gene

ENSMUSG00000070796

Gene Name

pregnancy-specific glycoprotein 21

Synonyms

1600026N13Rik, 1600019C01Rik, 1600025N01Rik, cea8

MMRRC Submission

044312-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R6166 (G1)

Quality Score

117.008

Status

Validated

Chromosome

Chromosomal Location

18646736-18656725 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 18656739 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138173 (fasta)

Gene Model

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

AlphaFold

Q9DAV5

Predicted Effect

probably benign
Transcript: ENSMUST00000094793

SMART Domains

Protein: ENSMUSP00000092387
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
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182933

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,186,560	H478R	probably benign	Het
Acot2	A	T	12: 83,992,604	N296Y	probably damaging	Het
Ago2	T	A	15: 73,124,240	I347L	probably benign	Het
Aldh1l2	C	T	10: 83,493,424		probably null	Het
Ap1ar	A	G	3: 127,812,528		probably null	Het
Arap3	T	C	18: 37,974,370	T1365A	probably damaging	Het
Arhgef17	A	T	7: 100,876,492	H1966Q	probably damaging	Het
Arpp21	T	C	9: 112,119,198	T668A	probably benign	Het
Atg13	G	T	2: 91,676,391	Q479K	probably damaging	Het
BC049730	A	T	7: 24,714,219	Q220L	probably benign	Het
Bmp8a	T	C	4: 123,324,678	T183A	probably benign	Het
Camta2	G	C	11: 70,674,261		probably null	Het
Ccdc40	T	C	11: 119,232,001	S210P	probably benign	Het
Cnn2	A	G	10: 79,988,727	E17G	possibly damaging	Het
Cnot6l	T	C	5: 96,079,940	D478G	possibly damaging	Het
Csf2rb	A	G	15: 78,344,566	Y369C	probably damaging	Het
Dll4	A	G	2: 119,334,626		probably null	Het
Efcab6	A	G	15: 83,896,115	V1039A	probably benign	Het
Fam117a	T	C	11: 95,380,781	M393T	possibly damaging	Het
Fancd2	T	A	6: 113,555,251	N508K	possibly damaging	Het
Fat1	T	C	8: 44,952,485	S758P	probably damaging	Het
Fgf20	T	C	8: 40,279,840	K186E	probably damaging	Het
Filip1	T	C	9: 79,819,454	K628E	probably damaging	Het
Fsip2	G	T	2: 82,980,727	K2463N	probably benign	Het
Gm15446	T	A	5: 109,942,780	Y299*	probably null	Het
Gm16432	A	G	1: 178,103,837	T441A	unknown	Het
Gm7363	A	T	7: 3,983,785		noncoding transcript	Het
Gpx5	A	T	13: 21,289,265	F104I	probably damaging	Het
Grip1	A	T	10: 120,072,718	I618F	probably damaging	Het
Hmcn2	G	A	2: 31,369,262	G1038D	probably damaging	Het
Lgals9	C	T	11: 78,971,358	A134T	probably benign	Het
Lrba	G	A	3: 86,354,307		probably null	Het
Naprt	T	C	15: 75,891,477	Q439R	possibly damaging	Het
Ndufs6	G	A	13: 73,317,941		probably benign	Het
Nodal	C	A	10: 61,424,558	S329R	probably damaging	Het
Olfm3	T	A	3: 115,122,425	N315K	probably damaging	Het
Olfr420	A	G	1: 174,159,093	T107A	probably benign	Het
Olfr730	C	T	14: 50,186,768	V150I	probably benign	Het
Olfr803	A	T	10: 129,691,279	I254K	probably damaging	Het
Plg	T	A	17: 12,398,114	V373E	probably damaging	Het
Prdm2	A	C	4: 143,134,736	S661R	probably damaging	Het
Rhobtb2	T	C	14: 69,798,178	D148G	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907		probably benign	Het
Scaf11	A	T	15: 96,424,662	N116K	probably damaging	Het
Sf3a3	T	C	4: 124,723,384		probably benign	Homo
Slc38a9	T	G	13: 112,695,267	Y184D	possibly damaging	Het
Sowahc	A	G	10: 59,222,360	D106G	probably benign	Het
Srbd1	T	C	17: 86,099,268	Y563C	probably damaging	Het
Src	A	G	2: 157,468,522	Y359C	probably damaging	Het
Tbc1d9b	A	G	11: 50,135,846	D47G	probably damaging	Het
Tctn3	T	C	19: 40,597,479	K541E	possibly damaging	Het
Tgm7	A	G	2: 121,099,058	V245A	probably damaging	Het
Thbs2	C	T	17: 14,680,388	R519H	probably damaging	Het
Tm4sf19	T	C	16: 32,407,863	S157P	probably damaging	Het
Trio	C	T	15: 27,818,071	S507N	probably damaging	Het
Trrap	T	A	5: 144,781,981	H152Q	possibly damaging	Het
Vmn2r56	A	G	7: 12,694,020	L773P	probably damaging	Het
Vmn2r70	A	G	7: 85,565,981	L115P	probably benign	Het
Wdr59	C	T	8: 111,472,661	R631H	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
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'- TTCAGCTCCAGCAAGGTACC -3'
(R):5'- ATTTTCCCAGTGCACTGAGGAC -3'

Sequencing Primer
(F):5'- AAGGTACCTGGCCTCTACTG -3'
(R):5'- CTCAGGGCAATCTTTGAATCTCAGG -3'

Posted On

2018-06-18