Mutagenetix > Incidental Mutation

Incidental Mutation 'R8758:Psg21'

671738

Institutional Source

Beutler Lab

Gene Symbol

Psg21

Ensembl Gene

ENSMUSG00000070796

Gene Name

pregnancy-specific glycoprotein 21

Synonyms

1600026N13Rik, 1600019C01Rik, 1600025N01Rik, cea8

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R8758 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18646736-18656725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18650753 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 356 (Y356C)

Ref Sequence

ENSEMBL: ENSMUSP00000092387 (fasta)

Gene Model

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

AlphaFold

Q9DAV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000094793
AA Change: Y356C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092387
Gene: ENSMUSG00000070796
AA Change: Y356C

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: Y356C

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

SMART Domains

Protein: ENSMUSP00000138173
Gene: ENSMUSG00000070796
AA Change: Y356C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	G	A	4: 39,450,811	D6N	probably benign	Het
AC157566.4	T	C	15: 76,534,182	I42M	probably benign	Het
Amer2	C	T	14: 60,378,877	R174C	probably damaging	Het
Arl8a	A	T	1: 135,154,451	D139V	possibly damaging	Het
Csmd3	A	G	15: 47,606,197	Y2525H		Het
Cwc22	T	C	2: 77,917,097	E424G	possibly damaging	Het
D930048N14Rik	A	G	11: 51,653,741	T80A	unknown	Het
Ddx25	T	A	9: 35,542,004	E483D	probably benign	Het
Dock4	A	T	12: 40,788,232	E1057D	probably benign	Het
Dock7	C	T	4: 99,061,318	R429Q		Het
Dzip3	T	C	16: 48,977,937	Y135C	probably damaging	Het
Evi5l	G	T	8: 4,205,860	A618S	probably benign	Het
Fibp	A	G	19: 5,464,942	D348G	possibly damaging	Het
Gimd1	T	A	3: 132,635,038	L105H	probably damaging	Het
Glra1	T	A	11: 55,527,365	I268F	possibly damaging	Het
Gm30191	A	G	4: 134,249,788	T104A	probably benign	Het
Gm49359	A	T	13: 62,454,336	I350K	possibly damaging	Het
Gpm6a	T	C	8: 55,058,798	S236P	probably damaging	Het
Igkv4-74	AG	A	6: 69,185,327		probably null	Het
Ikzf1	A	G	11: 11,761,359	S198G	probably benign	Het
Kcna4	T	A	2: 107,296,149	D409E	probably damaging	Het
Lipt2	GGCGCCCGCGCGCG	GGCG	7: 100,159,681		probably null	Het
Mgam	T	A	6: 40,729,043	D15E	probably benign	Het
Mmrn1	A	G	6: 60,987,209	D1065G	possibly damaging	Het
Plxnc1	A	C	10: 94,922,745	V363G	possibly damaging	Het
Ppp1r16b	G	A	2: 158,751,178	D226N	probably damaging	Het
Ranbp1	T	C	16: 18,241,795	D130G	probably damaging	Het
Rb1cc1	A	T	1: 6,240,227	Q283L	probably benign	Het
Rph3a	A	T	5: 120,959,302	H250Q	probably benign	Het
Secisbp2	G	A	13: 51,679,833	V670I	possibly damaging	Het
Skil	C	T	3: 31,118,537	A605V	probably damaging	Het
Slc28a3	T	C	13: 58,572,610	T312A	probably benign	Het
Ssh2	T	A	11: 77,454,017	C943S	probably benign	Het
Tgfbi	C	T	13: 56,632,081	A481V	probably damaging	Het
Tgfbr3	G	A	5: 107,149,884	P217S	probably damaging	Het
Tmem135	A	T	7: 89,305,513	W99R	probably benign	Het
Tmx1	A	G	12: 70,456,014	Y52C	possibly damaging	Het
Ube3b	A	T	5: 114,415,200		probably benign	Het
Vmn2r57	G	T	7: 41,428,739	N98K	probably damaging	Het
Vwa3b	A	G	1: 37,137,792	D40G		Het
Zfyve26	A	G	12: 79,264,309		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
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
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
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'- TGCTGTTGGACCATCCCATG -3'
(R):5'- CAGAAGATCTGCAAACCTTTTCC -3'

Sequencing Primer
(F):5'- CATGTGTGCCCTGCAGTAAG -3'
(R):5'- GCAAACCTTTTCCTGGTACAAGGG -3'

Posted On

2021-04-30