Mutagenetix > Incidental Mutation

Incidental Mutation 'R1993:Psg21'

223896

Institutional Source

Beutler Lab

Gene Symbol

Psg21

Ensembl Gene

ENSMUSG00000070796

Gene Name

pregnancy-specific glycoprotein 21

Synonyms

1600026N13Rik, 1600019C01Rik, 1600025N01Rik, cea8

MMRRC Submission

040004-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R1993 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18646736-18656725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18654770 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 132 (N132K)

Ref Sequence

ENSEMBL: ENSMUSP00000138173 (fasta)

Gene Model

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

AlphaFold

Q9DAV5

Predicted Effect

probably benign
Transcript: ENSMUST00000094793
AA Change: N132K

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000092387
Gene: ENSMUSG00000070796
AA Change: N132K

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
AA Change: N132K

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000138173
Gene: ENSMUSG00000070796
AA Change: N132K

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	G	5: 8,821,322	I292S	possibly damaging	Het
Abcc4	T	C	14: 118,526,282	N1047S	probably benign	Het
Abcc8	G	T	7: 46,117,423		probably null	Het
Akap9	T	A	5: 4,038,520		probably null	Het
Alox5	T	A	6: 116,415,463	I366F	probably damaging	Het
Amn	A	G	12: 111,276,092	N447S	probably damaging	Het
Ankrd22	A	T	19: 34,165,774	M1K	probably null	Het
Asic1	G	T	15: 99,671,884	G29C	probably damaging	Het
Atxn7l1	A	G	12: 33,345,977	N235S	probably benign	Het
AY358078	T	A	14: 51,826,062	D388E	probably damaging	Het
Bod1l	A	G	5: 41,817,336	S2212P	probably damaging	Het
Cacna1e	T	A	1: 154,477,817	Q423L	probably damaging	Het
Calu	T	C	6: 29,366,975	I62T	possibly damaging	Het
Cars2	A	G	8: 11,514,515	V75A	probably benign	Het
Catsperb	T	A	12: 101,602,767	N899K	possibly damaging	Het
Ccdc50	T	A	16: 27,409,339	C86*	probably null	Het
Cdh5	G	T	8: 104,137,815	L469F	probably damaging	Het
Clrn3	A	T	7: 135,514,119	D167E	probably benign	Het
Csmd1	A	T	8: 16,346,684	C411S	probably damaging	Het
Dchs1	A	T	7: 105,762,548	S1454T	probably benign	Het
Ddx20	G	A	3: 105,679,344	Q562*	probably null	Het
Dgkg	T	G	16: 22,600,594	Y52S	probably damaging	Het
Dhx58	T	C	11: 100,703,490		probably null	Het
Dpp6	A	T	5: 27,399,006	I145L	probably benign	Het
Efna2	A	T	10: 80,186,877	Y85F	possibly damaging	Het
Eif3a	C	T	19: 60,781,516	V127I	probably benign	Het
Exph5	A	T	9: 53,373,635	H672L	possibly damaging	Het
Fam131b	T	C	6: 42,320,884	T112A	possibly damaging	Het
Fam71e2	A	T	7: 4,758,018	V565E	probably damaging	Het
Fcgr1	A	T	3: 96,285,868	V271E	probably damaging	Het
Fgfr4	A	G	13: 55,165,902	D508G	probably damaging	Het
Fndc3b	A	G	3: 27,419,400	M1172T	probably benign	Het
Fryl	G	T	5: 73,108,493	T495K	probably damaging	Het
Gm5134	A	T	10: 75,966,393	I93F	probably damaging	Het
Gpbar1	G	A	1: 74,279,444	G282D	possibly damaging	Het
Gria2	G	A	3: 80,802,357	L10F	probably benign	Het
Grm7	T	C	6: 111,207,808	Y367H	probably benign	Het
Hils1	T	A	11: 94,968,032	V51E	probably damaging	Het
Hivep1	G	A	13: 42,157,493	A1070T	probably benign	Het
Il33	A	G	19: 29,956,904	D155G	possibly damaging	Het
Kdm6b	T	C	11: 69,406,303	S408G	probably null	Het
Kntc1	G	A	5: 123,759,099		probably null	Het
Kntc1	A	G	5: 123,810,811		probably null	Het
Ltbp2	T	G	12: 84,808,446		probably null	Het
Mapk8ip3	G	T	17: 24,914,588	L83I	probably damaging	Het
Meltf	C	A	16: 31,892,622	Y554*	probably null	Het
Mov10	A	C	3: 104,799,419	F725C	probably damaging	Het
Ms4a6d	A	C	19: 11,590,159	L18R	probably damaging	Het
Naip2	T	C	13: 100,162,007	N507S	probably benign	Het
Nodal	A	G	10: 61,418,334	Q12R	probably benign	Het
Npy6r	T	C	18: 44,276,508	L332P	probably damaging	Het
Nrxn3	A	G	12: 89,260,411	K272R	possibly damaging	Het
Obox2	G	T	7: 15,397,249	K93N	probably benign	Het
Olfr1136	C	T	2: 87,693,433	V150M	probably benign	Het
Olfr1408	C	T	1: 173,130,851	R122H	possibly damaging	Het
Olfr1466	A	G	19: 13,341,814	T19A	possibly damaging	Het
Olfr575	G	T	7: 102,954,746	P285Q	probably damaging	Het
Pcdh12	T	A	18: 38,282,143	D643V	possibly damaging	Het
Pcsk2	A	G	2: 143,687,619	D112G	probably benign	Het
Pms1	A	G	1: 53,195,015	S781P	probably benign	Het
Prtg	A	G	9: 72,844,896	D188G	probably benign	Het
Psip1	A	G	4: 83,482,532	V25A	probably damaging	Het
Psmd13	T	A	7: 140,898,194	I319N	probably damaging	Het
Ptges2	A	G	2: 32,400,092	T173A	probably benign	Het
Ptprm	G	A	17: 66,747,160	R975W	probably damaging	Het
Rdh1	A	G	10: 127,765,345	D254G	probably benign	Het
Rnf138	T	G	18: 21,024,483	N212K	probably damaging	Het
Serpine2	A	G	1: 79,821,442	S32P	probably damaging	Het
Serpini1	G	T	3: 75,614,664	W154L	probably damaging	Het
Sf3a1	C	A	11: 4,179,177	Q713K	possibly damaging	Het
Sgo2b	A	T	8: 63,926,833	H988Q	probably benign	Het
Sin3a	T	C	9: 57,101,199	F468L	probably damaging	Het
Slamf6	A	T	1: 171,934,209	I66F	possibly damaging	Het
Slc22a28	A	T	19: 8,117,124	C178S	possibly damaging	Het
Slc35a1	A	C	4: 34,675,181	V119G	probably damaging	Het
Slc39a12	A	T	2: 14,434,219	H428L	probably damaging	Het
Speer2	A	G	16: 69,858,077	S167P	probably benign	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Spsb2	T	C	6: 124,809,366		probably null	Het
Stam2	A	T	2: 52,703,156	Y341*	probably null	Het
Sv2b	G	A	7: 75,206,341	A67V	probably benign	Het
Svep1	A	G	4: 58,064,170		probably null	Het
Syt15	A	T	14: 34,223,012	Q172L	probably benign	Het
T	G	A	17: 8,441,802	S415N	probably benign	Het
Tep1	A	G	14: 50,824,184	F2625S	possibly damaging	Het
Tex14	T	C	11: 87,536,755	V11A	possibly damaging	Het
Tiam2	A	T	17: 3,415,126	R377*	probably null	Het
Tirap	A	G	9: 35,191,016		probably null	Het
Tm4sf20	T	C	1: 82,760,217	T118A	probably benign	Het
Trank1	A	T	9: 111,378,832	Q1715L	probably benign	Het
Trpm2	C	T	10: 77,947,989	V217M	probably damaging	Het
Ubap1l	G	A	9: 65,371,796	E126K	possibly damaging	Het
Urgcp	G	T	11: 5,716,526	P604Q	probably damaging	Het
Vmn1r63	A	G	7: 5,803,255	V126A	probably benign	Het
Vmn2r90	T	C	17: 17,713,263	C362R	probably damaging	Het
Vmn2r96	A	G	17: 18,583,876	I271V	probably damaging	Het
Vps13a	A	T	19: 16,722,458	I740K	probably benign	Het
Vps13c	A	G	9: 67,975,856	T3562A	probably damaging	Het
Wdr91	T	A	6: 34,892,362	H409L	probably damaging	Het
Wnt7a	T	A	6: 91,365,956	T315S	possibly damaging	Het
Zfp616	A	G	11: 74,084,969	H688R	probably benign	Het
Zfp763	A	T	17: 33,018,439	H577Q	probably damaging	Het
Zfp808	G	A	13: 62,172,907	S650N	probably benign	Het
Zfp977	A	T	7: 42,579,985	M372K	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
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
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'- GATGTCCTTGGCTGACTTGC -3'
(R):5'- GGAGGCTCACAATTGCTCTG -3'

Sequencing Primer
(F):5'- TGAGGGATTCTGCACAATTGAC -3'
(R):5'- CTGCATTTTCTGGACTATAGCACAAG -3'

Posted On

2014-08-25