Mutagenetix > Incidental Mutation

Incidental Mutation 'R6210:Psg21'

503401

Institutional Source

Beutler Lab

Gene Symbol

Psg21

Ensembl Gene

ENSMUSG00000070796

Gene Name

pregnancy-specific glycoprotein 21

Synonyms

1600026N13Rik, 1600019C01Rik, 1600025N01Rik, cea8

MMRRC Submission

044344-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R6210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18646736-18656725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18652345 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 239 (Y239H)

Ref Sequence

ENSEMBL: ENSMUSP00000138173 (fasta)

Gene Model

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

AlphaFold

Q9DAV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000094793
AA Change: Y239H

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

SMART Domains

Protein: ENSMUSP00000092387
Gene: ENSMUSG00000070796
AA Change: Y239H

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: Y239H

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

SMART Domains

Protein: ENSMUSP00000138173
Gene: ENSMUSG00000070796
AA Change: Y239H

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

95% (52/55)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	T	A	18: 10,706,032	I94F	probably damaging	Het
Bbox1	A	T	2: 110,270,077	D258E	probably benign	Het
Catsperb	A	G	12: 101,412,568		probably null	Het
Ccdc127	T	C	13: 74,356,921	V196A	probably benign	Het
Cd101	A	T	3: 101,018,643	D253E	probably damaging	Het
Ceacam15	T	C	7: 16,673,289	Y101C	probably damaging	Het
Cep135	C	T	5: 76,624,723	L652F	probably benign	Het
Col5a1	G	T	2: 28,032,621	V234L	probably benign	Het
Cxcr6	T	C	9: 123,810,008	S25P	possibly damaging	Het
D17Wsu92e	A	T	17: 27,767,986	D255E	probably benign	Het
Dctn4	C	T	18: 60,546,793	Q258*	probably null	Het
Fmnl2	A	T	2: 53,130,445	N1067I	possibly damaging	Het
Frrs1	A	T	3: 116,878,431	K59N	probably benign	Het
Gpr157	T	C	4: 150,101,598	Y206H	probably damaging	Het
Hephl1	A	G	9: 15,090,564	Y161H	possibly damaging	Het
Hinfp	C	T	9: 44,298,872		probably null	Het
Igf2r	A	T	17: 12,714,951	N805K	probably damaging	Het
Itga3	T	C	11: 95,068,891		probably benign	Het
Itga6	A	G	2: 71,834,007		probably null	Het
Kcnip1	G	A	11: 33,645,600	T30I	possibly damaging	Het
Lig4	T	C	8: 9,971,585	T732A	probably benign	Het
Lmod3	T	A	6: 97,247,301	T520S	probably damaging	Het
Megf8	G	A	7: 25,343,720	V1356I	possibly damaging	Het
Mical3	C	T	6: 121,040,517		probably null	Het
Msi1	T	C	5: 115,435,476	I8T	probably damaging	Het
Mug4-ps	A	T	6: 121,950,317		noncoding transcript	Het
Myo1f	T	A	17: 33,601,070	I783N	probably damaging	Het
Nr6a1	A	C	2: 38,729,497	I462S	probably damaging	Het
Olfr1056	A	G	2: 86,356,358	V8A	probably benign	Het
Olfr330	C	T	11: 58,529,264	A241T	probably damaging	Het
Pah	C	A	10: 87,583,561	Q449K	probably benign	Het
Pced1a	A	G	2: 130,421,919	V271A	probably damaging	Het
Pdzrn4	A	T	15: 92,757,681	E485V	probably damaging	Het
Ptprt	T	C	2: 162,268,029	Y180C	probably damaging	Het
Raet1d	T	A	10: 22,370,950	I59N	probably damaging	Het
Rfx1	T	C	8: 84,093,018	L653P	probably damaging	Het
Rnase2a	A	G	14: 51,255,674	V78A	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Serbp1	T	C	6: 67,272,867		probably benign	Het
Tlr1	A	T	5: 64,925,286	H649Q	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpc6	T	A	9: 8,656,730	D719E	probably benign	Het
Ttc21b	A	T	2: 66,236,354	S318R	probably benign	Het
Ttn	G	A	2: 76,749,329	T23740M	probably damaging	Het
Uhmk1	T	C	1: 170,212,237	Q187R	probably damaging	Het
Ung	C	T	5: 114,131,377	A50V	probably benign	Het
Upk3bl	C	T	5: 136,059,820	Q103*	probably null	Het
Usp17le	C	A	7: 104,769,143	C264F	probably damaging	Het
Vmn2r105	T	A	17: 20,228,496	N140Y	probably damaging	Het
Vmn2r84	C	T	10: 130,386,245	C702Y	probably damaging	Het
Zfp709	TCGACG	TCG	8: 71,890,708		probably benign	Het
Zfp748	G	A	13: 67,540,804	P779L	possibly 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
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
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'- TGTGTGACCTGTACACAGTGG -3'
(R):5'- TCCGTGTTCACAATCTTCCAGAG -3'

Sequencing Primer
(F):5'- GTGACCTGTACACAGTGGTCAAAC -3'
(R):5'- GTTCACAATCTTCCAGAGTATCTTC -3'

Posted On

2018-02-27