Mutagenetix > Incidental Mutation

Incidental Mutation 'R4464:Psg29'

330271

Institutional Source

Beutler Lab

Gene Symbol

Psg29

Ensembl Gene

ENSMUSG00000023159

Gene Name

pregnancy-specific glycoprotein 29

Synonyms

cea17

MMRRC Submission

041722-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R4464 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17203477-17215760 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17210650 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 362 (N362Y)

Ref Sequence

ENSEMBL: ENSMUSP00000075320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075934]

AlphaFold

Q3URN6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075934
AA Change: N362Y

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000075320
Gene: ENSMUSG00000023159
AA Change: N362Y

Domain	Start	End	E-Value	Type
IG	40	137	7.77e-1	SMART
IG	156	257	8.72e-4	SMART
IG	276	377	2.44e0	SMART
IGc2	393	457	3.06e-8	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,839		probably benign	Het
Abcc3	A	G	11: 94,358,786	V1111A	probably benign	Het
Acot10	G	A	15: 20,665,744	R304*	probably null	Het
Aldh8a1	C	A	10: 21,388,941		probably benign	Het
Alms1	A	G	6: 85,620,021	T1079A	possibly damaging	Het
Armc3	T	C	2: 19,248,659	Y204H	probably damaging	Het
Asnsd1	C	A	1: 53,352,527		probably null	Het
Atad5	T	A	11: 80,100,311		probably null	Het
Cst12	G	A	2: 148,789,517	V53I	possibly damaging	Het
Cylc2	C	G	4: 51,229,651	T331R	unknown	Het
Dennd1a	A	T	2: 38,243,390		probably benign	Het
Fam213a	T	A	14: 40,997,875	K127N	probably damaging	Het
Gm7535	C	A	17: 17,911,662		probably benign	Het
Gpr158	T	A	2: 21,826,999	M970K	probably damaging	Het
Ifngr1	G	A	10: 19,597,517	V72I	possibly damaging	Het
Kifap3	C	A	1: 163,817,895	Q269K	probably benign	Het
Krt86	G	A	15: 101,473,914	D122N	probably damaging	Het
Lrrcc1	A	G	3: 14,557,318	K694E	probably damaging	Het
Mbd4	A	G	6: 115,849,502	L155S	probably damaging	Het
Nalcn	T	C	14: 123,323,350	N772D	probably benign	Het
Olfr109	C	T	17: 37,466,851	S215F	probably damaging	Het
Ptpn23	G	A	9: 110,386,813	T1325I	probably damaging	Het
Rad51ap1	T	C	6: 126,934,768	N52S	possibly damaging	Het
Rb1	C	A	14: 73,199,198		probably null	Het
Slc34a2	T	C	5: 53,069,182	L490P	probably damaging	Het
Sost	G	A	11: 101,966,844	P44S	probably damaging	Het
St3gal2	A	G	8: 110,967,502	N207D	probably benign	Het
Stat1	T	G	1: 52,137,416	D257E	possibly damaging	Het
Tkt	A	G	14: 30,568,274	T165A	possibly damaging	Het
Trim66	A	T	7: 109,477,690	S347R	possibly damaging	Het
Zfp429	T	C	13: 67,390,498	I276V	probably benign	Het

Other mutations in Psg29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Psg29	APN	7	17208732	missense	probably benign	0.42
IGL01107:Psg29	APN	7	17204925	missense	probably benign	0.01
IGL01348:Psg29	APN	7	17210673	missense	probably benign	0.09
IGL01353:Psg29	APN	7	17205013	missense	possibly damaging	0.54
IGL02546:Psg29	APN	7	17208782	missense	probably damaging	1.00
IGL02611:Psg29	APN	7	17208791	missense	probably benign	0.15
IGL02982:Psg29	APN	7	17211707	missense	probably damaging	0.98
IGL03072:Psg29	APN	7	17208794	missense	probably benign	0.06
macular	UTSW	7	17210535	missense	probably benign	0.23
papular	UTSW	7	17211912	makesense	probably null
R1744:Psg29	UTSW	7	17210353	missense	probably damaging	1.00
R2272:Psg29	UTSW	7	17210696	missense	probably benign	0.19
R3054:Psg29	UTSW	7	17208802	missense	probably benign	0.29
R3790:Psg29	UTSW	7	17205025	missense	possibly damaging	0.71
R3963:Psg29	UTSW	7	17208585	missense	probably benign	0.01
R4740:Psg29	UTSW	7	17208533	missense	probably benign	0.00
R4774:Psg29	UTSW	7	17210535	missense	probably benign	0.23
R4902:Psg29	UTSW	7	17211912	makesense	probably null
R4977:Psg29	UTSW	7	17208631	missense	probably damaging	1.00
R5071:Psg29	UTSW	7	17211838	missense	probably damaging	1.00
R5072:Psg29	UTSW	7	17211838	missense	probably damaging	1.00
R5074:Psg29	UTSW	7	17211838	missense	probably damaging	1.00
R5169:Psg29	UTSW	7	17211653	missense	probably damaging	1.00
R5415:Psg29	UTSW	7	17211636	splice site	probably null
R5729:Psg29	UTSW	7	17210534	missense	probably damaging	0.98
R6023:Psg29	UTSW	7	17210512	missense	possibly damaging	0.82
R6127:Psg29	UTSW	7	17211746	missense	probably benign	0.00
R6900:Psg29	UTSW	7	17204932	nonsense	probably null
R7142:Psg29	UTSW	7	17210621	missense	probably damaging	1.00
R7297:Psg29	UTSW	7	17210691	nonsense	probably null
R7448:Psg29	UTSW	7	17211723	missense	possibly damaging	0.90
R7973:Psg29	UTSW	7	17210537	missense	probably benign	0.03
R8027:Psg29	UTSW	7	17208640	missense	possibly damaging	0.69
R8979:Psg29	UTSW	7	17203619	start gained	probably benign
X0017:Psg29	UTSW	7	17210661	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTCAATGTATAGGGTCCCTGCC -3'
(R):5'- CACACATTCTTCTCTGTGGAGG -3'

Sequencing Primer
(F):5'- AGGGTCCCTGCCTTTAAAATTG -3'
(R):5'- GACTGCTGCTTGTCTACGAAGTAC -3'

Posted On

2015-07-21