Mutagenetix > Incidental Mutation

Incidental Mutation 'R8066:Psg22'

619997

Institutional Source

Beutler Lab

Gene Symbol

Psg22

Ensembl Gene

ENSMUSG00000044903

Gene Name

pregnancy-specific beta-1-glycoprotein 22

Synonyms

cea9

Accession Numbers

Essential gene?

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

Stock #

R8066 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18452015-18461173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18452218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 45 (E45G)

Ref Sequence

ENSEMBL: ENSMUSP00000104121 (fasta)

Gene Model

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

AlphaFold

Q810J1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051973
AA Change: E6G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000050633
Gene: ENSMUSG00000044903
AA Change: E6G

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

possibly damaging
Transcript: ENSMUST00000108481
AA Change: E45G

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104121
Gene: ENSMUSG00000044903
AA Change: E45G

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

possibly damaging
Transcript: ENSMUST00000208221
AA Change: E6G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	G	11: 69,780,689 (GRCm39)	V177A	probably benign	Het
Acsm2	C	A	7: 119,190,548 (GRCm39)	T517K	probably damaging	Het
Adam29	T	G	8: 56,325,703 (GRCm39)	L250F	probably benign	Het
Ankrd37	T	C	8: 46,450,726 (GRCm39)	D135G	probably benign	Het
Armh4	T	C	14: 50,005,980 (GRCm39)	T572A	possibly damaging	Het
Aspa	T	C	11: 73,204,372 (GRCm39)	K199E	possibly damaging	Het
Aurka	A	T	2: 172,212,338 (GRCm39)	I13K	probably benign	Het
Bag6	A	G	17: 35,361,283 (GRCm39)	D446G	unknown	Het
Bcar3	A	T	3: 122,318,573 (GRCm39)	I654F	probably damaging	Het
Ccdc188	A	T	16: 18,037,058 (GRCm39)	N210Y	probably damaging	Het
Ccdc25	A	T	14: 66,083,751 (GRCm39)	D28V	possibly damaging	Het
Ccn5	G	T	2: 163,670,862 (GRCm39)	C123F	probably damaging	Het
Cdc37	C	T	9: 21,054,437 (GRCm39)	E63K	probably benign	Het
Chrm4	T	A	2: 91,758,042 (GRCm39)	L150H	probably damaging	Het
Col5a2	A	T	1: 45,452,628 (GRCm39)		probably null	Het
Ctr9	T	A	7: 110,633,104 (GRCm39)	Y117*	probably null	Het
Cyp4f37	C	A	17: 32,854,047 (GRCm39)	R499S	probably benign	Het
Egr4	T	C	6: 85,489,277 (GRCm39)	Y261C	probably damaging	Het
Fanca	A	T	8: 124,030,679 (GRCm39)	C468S	unknown	Het
Gart	T	C	16: 91,436,335 (GRCm39)	N141D	probably benign	Het
Get4	G	A	5: 139,249,293 (GRCm39)	V126M	probably damaging	Het
Gja3	T	C	14: 57,273,263 (GRCm39)	S370G	probably benign	Het
Gopc	T	C	10: 52,230,812 (GRCm39)	K162R	probably benign	Het
Grpel1	A	G	5: 36,626,889 (GRCm39)	D57G	probably benign	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Kcnma1	A	G	14: 23,361,744 (GRCm39)	L1149P	probably benign	Het
Lmbrd2	G	A	15: 9,172,172 (GRCm39)	R322Q	probably benign	Het
Lrrc59	T	C	11: 94,525,426 (GRCm39)	L74P	possibly damaging	Het
Mcam	G	T	9: 44,052,257 (GRCm39)	K589N	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nrap	A	T	19: 56,342,562 (GRCm39)	L813Q	possibly damaging	Het
Oga	T	C	19: 45,760,291 (GRCm39)	K289R	probably damaging	Het
Or10h1	T	C	17: 33,418,126 (GRCm39)	F35L	probably benign	Het
Or14a260	A	T	7: 85,985,014 (GRCm39)	C197S	probably benign	Het
Or52b1	C	T	7: 104,978,761 (GRCm39)	V213I	possibly damaging	Het
Pcdhga8	A	T	18: 37,859,435 (GRCm39)	I164L	probably benign	Het
Pck2	C	A	14: 55,781,858 (GRCm39)	P251H	probably benign	Het
Phip	A	T	9: 82,757,351 (GRCm39)	I1607K	probably benign	Het
Piwil2	T	C	14: 70,658,168 (GRCm39)	T220A	probably benign	Het
Plch1	G	A	3: 63,618,478 (GRCm39)	Q686*	probably null	Het
Pnpla2	A	G	7: 141,039,581 (GRCm39)	*487W	probably null	Het
Prdm14	C	A	1: 13,184,540 (GRCm39)	G544C	probably benign	Het
Psmb5	T	C	14: 54,851,698 (GRCm39)	D249G	probably benign	Het
Pstpip1	A	G	9: 56,033,913 (GRCm39)	I296V	probably benign	Het
S1pr3	T	A	13: 51,573,955 (GRCm39)	*379R	probably null	Het
Smc3	G	A	19: 53,603,576 (GRCm39)	R57H	probably damaging	Het
Spata31g1	C	A	4: 42,971,929 (GRCm39)	Q421K	possibly damaging	Het
Srcap	T	A	7: 127,139,484 (GRCm39)	H1268Q	possibly damaging	Het
Srcap	C	T	7: 127,120,804 (GRCm39)	R155C	probably damaging	Het
Srgap3	A	G	6: 112,748,339 (GRCm39)	F438L	probably damaging	Het
Svep1	A	G	4: 58,113,650 (GRCm39)	V999A	probably benign	Het
Tchp	T	A	5: 114,847,472 (GRCm39)	L97Q	probably benign	Het
Tex46	G	A	4: 136,340,265 (GRCm39)	V117M	probably benign	Het
Tnnc2	T	A	2: 164,619,661 (GRCm39)	I102F	possibly damaging	Het
Trbv5	T	A	6: 41,039,326 (GRCm39)	C12S	probably damaging	Het
Trub2	T	A	2: 29,667,867 (GRCm39)	T258S	possibly damaging	Het
Uba3	T	A	6: 97,178,882 (GRCm39)	N87I	probably damaging	Het
Vmn1r160	A	T	7: 22,571,315 (GRCm39)	I223F	probably damaging	Het
Vmn1r192	G	T	13: 22,371,565 (GRCm39)	Y218*	probably null	Het
Vmn1r8	A	G	6: 57,013,419 (GRCm39)	M157V	probably benign	Het
Vps53	T	C	11: 76,027,133 (GRCm39)	E127G	probably damaging	Het
Vsig10	G	T	5: 117,489,849 (GRCm39)	E538D	probably benign	Het
Zfp647	A	T	15: 76,796,095 (GRCm39)	H188Q	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
R0470:Psg22	UTSW	7	18,453,589 (GRCm39)	missense	probably damaging	0.99
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
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'- GTGGAAGTGACTGAGCAGTGTC -3'
(R):5'- AGAGATTCCTGCTGCTGAGC -3'

Sequencing Primer
(F):5'- CAGTGTCGTGGTCAGAGAC -3'
(R):5'- GCTGCTGAGCCTCTGTC -3'

Posted On

2020-01-23