Mutagenetix > Incidental Mutation

Incidental Mutation 'R6166:Psg21'

523282

Institutional Source

Beutler Lab

Gene Symbol

Psg21

Ensembl Gene

ENSMUSG00000070796

Gene Name

pregnancy-specific beta-1-glycoprotein 21

Synonyms

1600019C01Rik, 1600026N13Rik, 1600025N01Rik, cea8

MMRRC Submission

044312-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R6166 (G1)

Quality Score

117.008

Status

Validated

Chromosome

Chromosomal Location

18380661-18390650 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 18390664 bp (GRCm39)

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
Acot2	A	T	12: 84,039,378 (GRCm39)	N296Y	probably damaging	Het
Ago2	T	A	15: 72,996,089 (GRCm39)	I347L	probably benign	Het
Aldh1l2	C	T	10: 83,329,288 (GRCm39)		probably null	Het
Ap1ar	A	G	3: 127,606,177 (GRCm39)		probably null	Het
Arap3	T	C	18: 38,107,423 (GRCm39)	T1365A	probably damaging	Het
Arhgef17	A	T	7: 100,525,699 (GRCm39)	H1966Q	probably damaging	Het
Arpp21	T	C	9: 111,948,266 (GRCm39)	T668A	probably benign	Het
Atg13	G	T	2: 91,506,736 (GRCm39)	Q479K	probably damaging	Het
Bmp8a	T	C	4: 123,218,471 (GRCm39)	T183A	probably benign	Het
Camta2	G	C	11: 70,565,087 (GRCm39)		probably null	Het
Catspere2	A	G	1: 177,931,403 (GRCm39)	T441A	unknown	Het
Ccdc40	T	C	11: 119,122,827 (GRCm39)	S210P	probably benign	Het
Cnn2	A	G	10: 79,824,561 (GRCm39)	E17G	possibly damaging	Het
Cnot6l	T	C	5: 96,227,799 (GRCm39)	D478G	possibly damaging	Het
Cplane1	A	G	15: 8,216,044 (GRCm39)	H478R	probably benign	Het
Csf2rb	A	G	15: 78,228,766 (GRCm39)	Y369C	probably damaging	Het
Dll4	A	G	2: 119,165,107 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,780,316 (GRCm39)	V1039A	probably benign	Het
Fam117a	T	C	11: 95,271,607 (GRCm39)	M393T	possibly damaging	Het
Fancd2	T	A	6: 113,532,212 (GRCm39)	N508K	possibly damaging	Het
Fat1	T	C	8: 45,405,522 (GRCm39)	S758P	probably damaging	Het
Fgf20	T	C	8: 40,732,881 (GRCm39)	K186E	probably damaging	Het
Filip1	T	C	9: 79,726,736 (GRCm39)	K628E	probably damaging	Het
Fsip2	G	T	2: 82,811,071 (GRCm39)	K2463N	probably benign	Het
Gm15446	T	A	5: 110,090,646 (GRCm39)	Y299*	probably null	Het
Gm7363	A	T	7: 3,986,784 (GRCm39)		noncoding transcript	Het
Gpx5	A	T	13: 21,473,435 (GRCm39)	F104I	probably damaging	Het
Grip1	A	T	10: 119,908,623 (GRCm39)	I618F	probably damaging	Het
Hmcn2	G	A	2: 31,259,274 (GRCm39)	G1038D	probably damaging	Het
Lgals9	C	T	11: 78,862,184 (GRCm39)	A134T	probably benign	Het
Lrba	G	A	3: 86,261,614 (GRCm39)		probably null	Het
Lypd10	A	T	7: 24,413,644 (GRCm39)	Q220L	probably benign	Het
Naprt	T	C	15: 75,763,326 (GRCm39)	Q439R	possibly damaging	Het
Ndufs6	G	A	13: 73,466,060 (GRCm39)		probably benign	Het
Nodal	C	A	10: 61,260,337 (GRCm39)	S329R	probably damaging	Het
Olfm3	T	A	3: 114,916,074 (GRCm39)	N315K	probably damaging	Het
Or4k2	C	T	14: 50,424,225 (GRCm39)	V150I	probably benign	Het
Or6c3b	A	T	10: 129,527,148 (GRCm39)	I254K	probably damaging	Het
Or6k2	A	G	1: 173,986,659 (GRCm39)	T107A	probably benign	Het
Plg	T	A	17: 12,617,001 (GRCm39)	V373E	probably damaging	Het
Prdm2	A	C	4: 142,861,306 (GRCm39)	S661R	probably damaging	Het
Rhobtb2	T	C	14: 70,035,627 (GRCm39)	D148G	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Scaf11	A	T	15: 96,322,543 (GRCm39)	N116K	probably damaging	Het
Sf3a3	T	C	4: 124,617,177 (GRCm39)		probably benign	Homo
Slc38a9	T	G	13: 112,831,801 (GRCm39)	Y184D	possibly damaging	Het
Sowahc	A	G	10: 59,058,182 (GRCm39)	D106G	probably benign	Het
Srbd1	T	C	17: 86,406,696 (GRCm39)	Y563C	probably damaging	Het
Src	A	G	2: 157,310,442 (GRCm39)	Y359C	probably damaging	Het
Tbc1d9b	A	G	11: 50,026,673 (GRCm39)	D47G	probably damaging	Het
Tctn3	T	C	19: 40,585,923 (GRCm39)	K541E	possibly damaging	Het
Tgm7	A	G	2: 120,929,539 (GRCm39)	V245A	probably damaging	Het
Thbs2	C	T	17: 14,900,650 (GRCm39)	R519H	probably damaging	Het
Tm4sf19	T	C	16: 32,226,681 (GRCm39)	S157P	probably damaging	Het
Trio	C	T	15: 27,818,157 (GRCm39)	S507N	probably damaging	Het
Trrap	T	A	5: 144,718,791 (GRCm39)	H152Q	possibly damaging	Het
Vmn2r56	A	G	7: 12,427,947 (GRCm39)	L773P	probably damaging	Het
Vmn2r70	A	G	7: 85,215,189 (GRCm39)	L115P	probably benign	Het
Wdr59	C	T	8: 112,199,293 (GRCm39)	R631H	probably damaging	Het

Other mutations in Psg21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01571:Psg21	APN	7	18,388,750 (GRCm39)	missense	probably damaging	1.00
IGL02390:Psg21	APN	7	18,386,556 (GRCm39)	missense	probably benign	0.11
IGL02548:Psg21	APN	7	18,388,961 (GRCm39)	missense	possibly damaging	0.89
IGL03001:Psg21	APN	7	18,386,410 (GRCm39)	missense	probably benign	0.03
IGL03135:Psg21	APN	7	18,388,843 (GRCm39)	missense	probably benign	0.00
R0131:Psg21	UTSW	7	18,388,793 (GRCm39)	missense	probably benign	0.39
R0551:Psg21	UTSW	7	18,386,565 (GRCm39)	critical splice acceptor site	probably null
R1512:Psg21	UTSW	7	18,390,425 (GRCm39)	missense	probably benign	0.00
R1874:Psg21	UTSW	7	18,384,741 (GRCm39)	missense	probably benign	0.15
R1993:Psg21	UTSW	7	18,388,695 (GRCm39)	missense	probably benign	0.04
R2327:Psg21	UTSW	7	18,386,378 (GRCm39)	missense	possibly damaging	0.61
R3414:Psg21	UTSW	7	18,386,305 (GRCm39)	missense	probably damaging	1.00
R4422:Psg21	UTSW	7	18,381,257 (GRCm39)	missense	probably damaging	1.00
R5138:Psg21	UTSW	7	18,390,453 (GRCm39)	start codon destroyed	probably null	0.94
R5623:Psg21	UTSW	7	18,388,939 (GRCm39)	missense	probably damaging	1.00
R5686:Psg21	UTSW	7	18,386,183 (GRCm39)	intron	probably benign
R6177:Psg21	UTSW	7	18,386,279 (GRCm39)	missense	possibly damaging	0.64
R6190:Psg21	UTSW	7	18,388,926 (GRCm39)	missense	possibly damaging	0.61
R6210:Psg21	UTSW	7	18,386,270 (GRCm39)	missense	probably damaging	1.00
R6482:Psg21	UTSW	7	18,388,664 (GRCm39)	splice site	probably null
R6729:Psg21	UTSW	7	18,386,516 (GRCm39)	missense	probably damaging	1.00
R6866:Psg21	UTSW	7	18,386,209 (GRCm39)	missense	probably damaging	1.00
R6992:Psg21	UTSW	7	18,388,668 (GRCm39)	critical splice donor site	probably null
R7075:Psg21	UTSW	7	18,388,786 (GRCm39)	missense	probably damaging	1.00
R7081:Psg21	UTSW	7	18,388,774 (GRCm39)	nonsense	probably null
R7098:Psg21	UTSW	7	18,386,470 (GRCm39)	missense	probably damaging	1.00
R7582:Psg21	UTSW	7	18,381,128 (GRCm39)	makesense	probably null
R7588:Psg21	UTSW	7	18,381,134 (GRCm39)	missense	probably benign	0.00
R7607:Psg21	UTSW	7	18,388,708 (GRCm39)	missense	probably benign	0.02
R7830:Psg21	UTSW	7	18,381,223 (GRCm39)	missense	probably damaging	1.00
R7964:Psg21	UTSW	7	18,381,136 (GRCm39)	missense	probably benign	0.01
R8758:Psg21	UTSW	7	18,384,678 (GRCm39)	missense	probably damaging	1.00
R8972:Psg21	UTSW	7	18,381,293 (GRCm39)	missense	probably benign	0.03
R8988:Psg21	UTSW	7	18,386,389 (GRCm39)	missense	probably benign	0.00
R9119:Psg21	UTSW	7	18,381,409 (GRCm39)	missense	probably benign	0.14
R9446:Psg21	UTSW	7	18,388,865 (GRCm39)	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