Mutagenetix > Incidental Mutation

Incidental Mutation 'R0470:Psg22'

41792

Institutional Source

Beutler Lab

Gene Symbol

Psg22

Ensembl Gene

ENSMUSG00000044903

Gene Name

pregnancy-specific beta-1-glycoprotein 22

Synonyms

cea9

MMRRC Submission

038670-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R0470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18452015-18461173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 18453589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 95 (S95R)

Ref Sequence

ENSEMBL: ENSMUSP00000146795 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051973] [ENSMUST00000108481] [ENSMUST00000208221]

AlphaFold

Q810J1

Predicted Effect

probably damaging
Transcript: ENSMUST00000051973
AA Change: S95R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000050633
Gene: ENSMUSG00000044903
AA Change: S95R

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
IG	40	141	7.59e-4	SMART
IG	160	261	1.13e-2	SMART
IG	280	381	3.74e-3	SMART
IGc2	397	461	7.35e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108481
AA Change: S134R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104121
Gene: ENSMUSG00000044903
AA Change: S134R

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
IG	79	180	7.59e-4	SMART
IG	199	300	1.13e-2	SMART
IG	319	420	3.74e-3	SMART
IGc2	436	500	7.35e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000208221
AA Change: S95R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.2189

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.0%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	G	19: 8,986,331 (GRCm39)	D2538E	probably benign	Het
Akr1c13	T	A	13: 4,248,500 (GRCm39)	L235H	probably damaging	Het
Ank	G	A	15: 27,571,721 (GRCm39)	C331Y	probably damaging	Het
Ankrd12	T	C	17: 66,293,129 (GRCm39)	E768G	probably benign	Het
Atm	A	T	9: 53,372,266 (GRCm39)	V2172E	probably damaging	Het
Atp10b	T	A	11: 43,093,866 (GRCm39)	L470Q	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Ccn4	A	G	15: 66,789,227 (GRCm39)	I238V	probably benign	Het
Cdadc1	A	T	14: 59,811,290 (GRCm39)		probably benign	Het
Cfhr2	A	T	1: 139,749,517 (GRCm39)	V155E	probably damaging	Het
Chp1	C	T	2: 119,391,244 (GRCm39)	R34C	probably damaging	Het
Cilp2	A	T	8: 70,338,055 (GRCm39)	V192E	possibly damaging	Het
Cyth1	T	C	11: 118,023,074 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 30,927,514 (GRCm39)		probably benign	Het
Gja3	T	C	14: 57,273,884 (GRCm39)	T163A	probably damaging	Het
Gsdmcl1	C	T	15: 63,722,280 (GRCm39)		noncoding transcript	Het
Herc6	C	T	6: 57,596,437 (GRCm39)	T459M	probably damaging	Het
Hexb	A	G	13: 97,314,507 (GRCm39)	L412P	probably damaging	Het
Il17ra	T	G	6: 120,458,767 (GRCm39)	D639E	probably benign	Het
Kcnh5	G	A	12: 75,161,188 (GRCm39)	T240I	probably benign	Het
Lef1	T	C	3: 130,906,475 (GRCm39)		probably benign	Het
Lilrb4a	T	A	10: 51,370,923 (GRCm39)	N282K	possibly damaging	Het
Mbnl2	A	T	14: 120,642,062 (GRCm39)	H342L	probably damaging	Het
Minar2	C	T	18: 59,208,711 (GRCm39)	R120C	probably damaging	Het
Nipal3	A	G	4: 135,174,683 (GRCm39)	V356A	probably damaging	Het
Or2a54	C	G	6: 43,093,558 (GRCm39)	A294G	probably null	Het
Or51i1	A	T	7: 103,670,877 (GRCm39)	I216N	probably damaging	Het
Plekha6	G	A	1: 133,200,045 (GRCm39)	R208Q	probably benign	Het
Prkar1b	A	G	5: 139,036,504 (GRCm39)	I82T	probably damaging	Het
Prrc1	C	T	18: 57,496,469 (GRCm39)	T140M	probably damaging	Het
Ptk6	T	C	2: 180,837,732 (GRCm39)	T396A	probably benign	Het
Ptov1	A	G	7: 44,514,235 (GRCm39)	S9P	probably damaging	Het
Scin	A	C	12: 40,123,291 (GRCm39)		probably benign	Het
Sec13	T	C	6: 113,717,593 (GRCm39)		probably benign	Het
Setd1a	G	A	7: 127,384,229 (GRCm39)		probably benign	Het
Sf3a2	G	A	10: 80,640,388 (GRCm39)		probably benign	Het
Shmt1	T	C	11: 60,683,789 (GRCm39)	Y341C	possibly damaging	Het
Slc27a4	T	A	2: 29,694,197 (GRCm39)	L7Q	probably benign	Het
Slc41a2	T	C	10: 83,152,086 (GRCm39)	M130V	possibly damaging	Het
Sorcs3	T	C	19: 48,785,956 (GRCm39)		probably null	Het
Tex24	C	T	8: 27,834,936 (GRCm39)	R155*	probably null	Het
Tgfb1	T	A	7: 25,387,355 (GRCm39)		probably benign	Het
Tmc5	A	G	7: 118,239,154 (GRCm39)	D349G	possibly damaging	Het
Trappc13	C	T	13: 104,297,512 (GRCm39)	V131I	possibly damaging	Het
Trim66	A	G	7: 109,056,749 (GRCm39)		probably benign	Het
Tspoap1	T	C	11: 87,666,988 (GRCm39)	S1027P	probably damaging	Het
Usp34	C	T	11: 23,386,001 (GRCm39)	H2143Y	possibly damaging	Het
Vmn1r179	A	C	7: 23,627,818 (GRCm39)	Y3S	probably benign	Het
Vmn1r231	G	A	17: 21,110,265 (GRCm39)	Q217*	probably null	Het
Vmn1r62	T	A	7: 5,679,066 (GRCm39)	L249*	probably null	Het
Vmn1r71	G	C	7: 10,482,019 (GRCm39)	S223C	possibly damaging	Het
Vmn2r109	T	C	17: 20,773,148 (GRCm39)	Q491R	probably benign	Het
Vwf	G	A	6: 125,605,391 (GRCm39)	V925M	possibly damaging	Het
Zbtb6	A	C	2: 37,319,505 (GRCm39)	L141W	probably damaging	Het
Zranb1	G	T	7: 132,584,500 (GRCm39)	L615F	probably damaging	Het

Other mutations in Psg22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00797:Psg22	APN	7	18,452,200 (GRCm39)	missense	probably benign	0.00
IGL00839:Psg22	APN	7	18,456,893 (GRCm39)	missense	probably benign	0.01
IGL00898:Psg22	APN	7	18,458,392 (GRCm39)	missense	probably damaging	1.00
IGL02262:Psg22	APN	7	18,458,496 (GRCm39)	missense	probably damaging	0.98
IGL02678:Psg22	APN	7	18,453,418 (GRCm39)	missense	probably damaging	0.99
IGL02749:Psg22	APN	7	18,456,944 (GRCm39)	missense	possibly damaging	0.50
IGL02928:Psg22	APN	7	18,453,458 (GRCm39)	missense	probably damaging	0.98
IGL02977:Psg22	APN	7	18,453,524 (GRCm39)	missense	probably benign	0.20
R1902:Psg22	UTSW	7	18,458,363 (GRCm39)	nonsense	probably null
R1935:Psg22	UTSW	7	18,453,635 (GRCm39)	missense	probably damaging	0.99
R1936:Psg22	UTSW	7	18,453,635 (GRCm39)	missense	probably damaging	0.99
R2013:Psg22	UTSW	7	18,453,560 (GRCm39)	missense	possibly damaging	0.93
R2278:Psg22	UTSW	7	18,460,762 (GRCm39)	missense	possibly damaging	0.80
R4258:Psg22	UTSW	7	18,458,554 (GRCm39)	missense	probably damaging	1.00
R5029:Psg22	UTSW	7	18,453,662 (GRCm39)	missense	probably damaging	1.00
R5885:Psg22	UTSW	7	18,452,257 (GRCm39)	missense	probably damaging	0.98
R6084:Psg22	UTSW	7	18,453,705 (GRCm39)	missense	probably benign	0.01
R6143:Psg22	UTSW	7	18,456,723 (GRCm39)	missense	probably benign	0.03
R6209:Psg22	UTSW	7	18,453,599 (GRCm39)	missense	probably damaging	1.00
R7017:Psg22	UTSW	7	18,458,366 (GRCm39)	missense	probably benign	0.01
R7337:Psg22	UTSW	7	18,453,499 (GRCm39)	missense	probably benign	0.20
R7417:Psg22	UTSW	7	18,456,891 (GRCm39)	missense	probably damaging	1.00
R7460:Psg22	UTSW	7	18,458,329 (GRCm39)	missense	probably benign	0.03
R7570:Psg22	UTSW	7	18,456,660 (GRCm39)	missense	possibly damaging	0.95
R7650:Psg22	UTSW	7	18,460,684 (GRCm39)	missense	possibly damaging	0.66
R7711:Psg22	UTSW	7	18,452,267 (GRCm39)	critical splice donor site	probably null
R7991:Psg22	UTSW	7	18,460,861 (GRCm39)	missense	probably damaging	1.00
R8001:Psg22	UTSW	7	18,453,671 (GRCm39)	missense	possibly damaging	0.79
R8003:Psg22	UTSW	7	18,458,350 (GRCm39)	missense	probably damaging	1.00
R8066:Psg22	UTSW	7	18,452,218 (GRCm39)	missense	possibly damaging	0.88
R8113:Psg22	UTSW	7	18,456,987 (GRCm39)	missense	probably benign	0.00
R9136:Psg22	UTSW	7	18,460,811 (GRCm39)	missense	probably damaging	1.00
R9148:Psg22	UTSW	7	18,460,682 (GRCm39)	missense	probably benign	0.09
R9152:Psg22	UTSW	7	18,460,646 (GRCm39)	missense	probably damaging	0.97
R9344:Psg22	UTSW	7	18,460,816 (GRCm39)	missense	possibly damaging	0.69
R9666:Psg22	UTSW	7	18,458,248 (GRCm39)	missense	probably benign
R9801:Psg22	UTSW	7	18,456,899 (GRCm39)	missense	probably benign	0.11
X0064:Psg22	UTSW	7	18,452,106 (GRCm39)	missense	probably benign	0.01
Z1177:Psg22	UTSW	7	18,453,602 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- TCCGTACCACCCAAATTGGTTGAAG -3'
(R):5'- AATGCTCAAGCCCCAATATGGAGAC -3'

Sequencing Primer
(F):5'- GGAGAAAATGTTCTTCTACGAGTG -3'
(R):5'- CTATTTGCCTAGTGGAGGAACCC -3'

Posted On

2013-05-23