Mutagenetix > Incidental Mutation

Incidental Mutation 'R6190:Psg21'

502469

Institutional Source

Beutler Lab

Gene Symbol

Psg21

Ensembl Gene

ENSMUSG00000070796

Gene Name

pregnancy-specific glycoprotein 21

Synonyms

1600026N13Rik, 1600019C01Rik, 1600025N01Rik, cea8

MMRRC Submission

044330-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.047) question?

Stock #

R6190 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18646736-18656725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 18655001 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 55 (D55E)

Ref Sequence

ENSEMBL: ENSMUSP00000138173 (fasta)

Gene Model

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

AlphaFold

Q9DAV5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094793
AA Change: D55E

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000092387
Gene: ENSMUSG00000070796
AA Change: D55E

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

possibly damaging
Transcript: ENSMUST00000182128
AA Change: D55E

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138173
Gene: ENSMUSG00000070796
AA Change: D55E

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: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,605,608	L224Q	probably damaging	Het
Abcc5	A	G	16: 20,392,779	M478T	probably benign	Het
Acot10	T	C	15: 20,665,785	D290G	possibly damaging	Het
Actr3b	A	G	5: 25,831,690	Q167R	probably benign	Het
Actr8	C	T	14: 29,991,717	R565*	probably null	Het
Adcy7	C	T	8: 88,325,730		probably null	Het
Adgrb3	C	T	1: 25,420,647	V576I	probably benign	Het
Adgrv1	T	A	13: 81,459,763		probably null	Het
Adgrv1	A	T	13: 81,524,779		probably null	Het
Ak2	A	G	4: 128,999,183	D45G	probably damaging	Het
Ak9	C	G	10: 41,422,407	Q1489E	unknown	Het
Ak9	A	T	10: 41,422,408	Q1489L	unknown	Het
Akap12	C	A	10: 4,356,268	S1026Y	possibly damaging	Het
Ankhd1	T	G	18: 36,611,809	S601A	possibly damaging	Het
Apba2	A	T	7: 64,739,880	E508V	probably damaging	Het
Arhgap18	A	G	10: 26,846,035	M1V	probably null	Het
Arhgef10l	G	A	4: 140,542,762	T865M	possibly damaging	Het
Bdh1	T	A	16: 31,449,897	V150D	probably damaging	Het
Becn1	A	G	11: 101,295,374	C135R	probably damaging	Het
C2cd4d	A	G	3: 94,363,919	D164G	probably benign	Het
C87414	A	T	5: 93,638,078	N114K	probably benign	Het
Cacna1e	C	A	1: 154,486,570	V424F	possibly damaging	Het
Capn7	C	A	14: 31,363,603	T511K	probably benign	Het
Cdc5l	G	A	17: 45,408,017	P558S	probably benign	Het
Cep170	T	A	1: 176,782,409	H112L	probably damaging	Het
Cfap61	C	T	2: 145,947,133	T19M	probably benign	Het
Clca3a1	A	G	3: 144,758,060	V152A	probably benign	Het
Cnot10	G	T	9: 114,632,723	T24K	probably damaging	Het
Cntnap5b	T	A	1: 100,379,075	I839N	possibly damaging	Het
Cyp4f13	A	T	17: 32,929,873	D299E	probably damaging	Het
Dclk1	A	G	3: 55,487,811	E128G	probably damaging	Het
Dennd1b	T	C	1: 139,133,675	I365T	probably damaging	Het
Dgcr8	T	C	16: 18,284,410	T3A	probably damaging	Het
Dld	A	C	12: 31,344,848	I58S	probably damaging	Het
Dlg5	T	A	14: 24,190,438	R248S	probably damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Faf1	C	T	4: 109,861,815	L373F	probably damaging	Het
Fam159a	A	T	4: 108,367,855	I170N	probably damaging	Het
Fam171b	C	T	2: 83,876,698	T304I	probably benign	Het
Fcgrt	A	T	7: 45,102,198		probably null	Het
Gimap9	T	C	6: 48,678,351	W291R	probably damaging	Het
Gm4847	G	A	1: 166,630,323	A487V	probably damaging	Het
Gria4	T	A	9: 4,420,199	I888F	probably benign	Het
Hapln2	T	A	3: 88,023,293	I224F	probably damaging	Het
Herc1	T	G	9: 66,376,381	L332R	possibly damaging	Het
Hmgxb4	T	C	8: 75,023,299	V481A	probably benign	Het
Htr1d	T	C	4: 136,442,798	S113P	probably damaging	Het
Ift81	T	C	5: 122,551,100	Q651R	probably benign	Het
Il17ra	T	C	6: 120,475,273	S199P	probably damaging	Het
Itih2	T	C	2: 10,098,507	N723S	probably benign	Het
Jak1	A	T	4: 101,175,128	V427E	probably damaging	Het
Krt23	C	T	11: 99,485,758	D191N	probably damaging	Het
Lingo1	T	A	9: 56,619,650	I552F	possibly damaging	Het
Llgl2	G	A	11: 115,846,986	R199Q	probably benign	Het
Lrrc37a	G	T	11: 103,501,216	Q1128K	possibly damaging	Het
Lrrc74a	T	C	12: 86,736,489	V36A	probably benign	Het
M1ap	T	A	6: 83,003,896	D254E	possibly damaging	Het
Mal2	C	T	15: 54,571,398		probably benign	Het
Mbnl2	A	G	14: 120,385,421	T124A	probably benign	Het
Nfatc1	A	G	18: 80,712,670	S33P	probably benign	Het
Nfkbid	A	G	7: 30,425,737	N253S	probably damaging	Het
Ngfr	T	A	11: 95,574,441	I194F	probably benign	Het
Nhsl1	A	G	10: 18,470,041		probably benign	Het
Nol9	T	A	4: 152,041,234	I214N	possibly damaging	Het
Olfr1047	T	A	2: 86,228,234	T246S	possibly damaging	Het
Olfr477	T	C	7: 107,991,100	L245P	probably damaging	Het
Olfr98	A	G	17: 37,262,744	S307P	probably benign	Het
Pax3	C	T	1: 78,192,549	S160N	possibly damaging	Het
Pde3b	A	G	7: 114,523,032		probably null	Het
Pde5a	A	C	3: 122,729,307	E21A	probably benign	Het
Plcxd1	A	G	5: 110,102,603	E270G	probably damaging	Het
Plxna1	T	A	6: 89,356,604	K348*	probably null	Het
Prpmp5	T	A	6: 132,312,729	H44L	unknown	Het
Rasa1	C	A	13: 85,233,695	A493S	probably benign	Het
Raver2	A	G	4: 101,133,617	I396V	probably benign	Het
Rpa2	A	G	4: 132,775,020	K138E	probably benign	Het
Rsad1	T	C	11: 94,548,236	N133D	probably damaging	Het
Rusc1	T	C	3: 89,091,881	D198G	probably benign	Het
Samsn1	A	T	16: 75,870,915	Y258N	probably damaging	Het
Scap	A	G	9: 110,374,067	N270D	probably benign	Het
Smpd4	T	C	16: 17,632,013	Y200H	probably damaging	Het
Steap2	A	G	5: 5,675,881	V381A	probably damaging	Het
Syk	C	T	13: 52,611,053	T72I	probably damaging	Het
Tbc1d14	T	C	5: 36,571,884	D66G	possibly damaging	Het
Tcp11	A	G	17: 28,071,717	Y223H	probably benign	Het
Timm9	A	G	12: 71,126,350	S8P	probably benign	Het
Tmpo	T	C	10: 91,164,207		probably null	Het
Vezf1	T	C	11: 88,076,186	M81T	probably benign	Het
Vipr1	T	A	9: 121,664,653	W257R	probably damaging	Het
Vmn1r237	G	A	17: 21,314,294	G93D	probably damaging	Het
Vmn2r6	A	G	3: 64,538,003	V678A	probably benign	Het
Vmn2r85	T	C	10: 130,425,461	T336A	possibly damaging	Het
Xpnpep3	C	A	15: 81,438,099	D296E	probably benign	Het
Zfp35	C	A	18: 24,004,061	H487Q	probably benign	Het
Zfp606	A	T	7: 12,494,001	Y625F	probably damaging	Het
Zfp677	A	G	17: 21,397,268	T196A	possibly damaging	Het
Zmym1	T	C	4: 127,047,884	I904V	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
R6166:Psg21	UTSW	7	18656739	unclassified	probably benign
R6177:Psg21	UTSW	7	18652354	missense	possibly damaging	0.64
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'- CCTGGGTGACATTTTGGATCC -3'
(R):5'- AGAAACGACACCCTCTGAGG -3'

Sequencing Primer
(F):5'- CATAGGGACCCGTTGCTGTAC -3'
(R):5'- TCATCTCTATTATGGGCACACC -3'

Posted On

2018-02-27