Mutagenetix > Incidental Mutation

Incidental Mutation 'R8001:Psg22'

616359

Institutional Source

Beutler Lab

Gene Symbol

Psg22

Ensembl Gene

ENSMUSG00000044903

Gene Name

pregnancy-specific glycoprotein 22

Synonyms

cea9

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18718090-18727248 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18719746 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 161 (Q161L)

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: Q122L

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050633
Gene: ENSMUSG00000044903
AA Change: Q122L

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: Q161L

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104121
Gene: ENSMUSG00000044903
AA Change: Q161L

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: Q122L

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	A	G	1: 93,154,599	L266P	probably damaging	Het
Acr	A	G	15: 89,573,962	Y282C	probably damaging	Het
Alkbh4	A	G	5: 136,140,269	R136G	probably damaging	Het
Bptf	C	A	11: 107,047,340	E2*	probably null	Het
Cse1l	T	A	2: 166,939,913	F659Y	probably damaging	Het
Ctrc	A	T	4: 141,840,360	L144Q	probably damaging	Het
Elmo1	A	G	13: 20,286,732	I265V	probably benign	Het
Erich3	T	C	3: 154,713,916	S19P	probably benign	Het
Hmcn1	A	T	1: 150,664,878	C2893*	probably null	Het
Hnrnpll	G	A	17: 80,038,723	Q370*	probably null	Het
Itpkb	T	C	1: 180,332,494	S62P	probably damaging	Het
Lig3	T	A	11: 82,792,076	C501S	probably benign	Het
Nrxn1	C	T	17: 91,088,536	R64H	possibly damaging	Het
Ogfod2	T	G	5: 124,114,883	C319G	probably damaging	Het
Olfr1474	A	G	19: 13,471,422	I109V	probably benign	Het
Olfr201	T	C	16: 59,269,109	N186S	probably benign	Het
Olfr555	A	T	7: 102,659,034	D71V	probably damaging	Het
Olfr827	A	G	10: 130,210,860	V90A	probably benign	Het
Pabpc6	C	A	17: 9,669,373	R83L	probably damaging	Het
Pcdhgb2	A	T	18: 37,690,634	Q226L	probably benign	Het
Pole	A	T	5: 110,312,734	I1127F	probably damaging	Het
Slc17a7	A	T	7: 45,168,788	T46S	probably benign	Het
Smad4	A	G	18: 73,641,810	S473P	probably damaging	Het
Snap47	T	A	11: 59,438,354	T41S	probably benign	Het
Snx21	T	C	2: 164,786,737	L100P	probably benign	Het
Stc1	T	A	14: 69,038,395	N212K	probably benign	Het
Stk32a	A	T	18: 43,315,144	N396I	possibly damaging	Het
Stox2	G	A	8: 47,186,477	P894L	probably benign	Het
Trav16d-dv11	A	G	14: 53,047,287	M1V	probably null	Het
Trim33	T	C	3: 103,311,515		probably null	Het
Tyrp1	T	C	4: 80,840,670	V260A	probably benign	Het
Ush2a	T	C	1: 188,911,064	Y4208H	probably damaging	Het
Vmn1r25	T	A	6: 57,979,080	K75*	probably null	Het
Vmn2r117	T	A	17: 23,479,407	N64I	possibly damaging	Het
Wdfy4	C	T	14: 32,973,535		probably null	Het
Wnt8a	A	T	18: 34,545,516	I128F	probably damaging	Het
Zc3h7b	C	A	15: 81,779,260	Y484*	probably null	Het
Zfp619	A	G	7: 39,535,221	K225R	probably benign	Het

Other mutations in Psg22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00797:Psg22	APN	7	18718275	missense	probably benign	0.00
IGL00839:Psg22	APN	7	18722968	missense	probably benign	0.01
IGL00898:Psg22	APN	7	18724467	missense	probably damaging	1.00
IGL02262:Psg22	APN	7	18724571	missense	probably damaging	0.98
IGL02678:Psg22	APN	7	18719493	missense	probably damaging	0.99
IGL02749:Psg22	APN	7	18723019	missense	possibly damaging	0.50
IGL02928:Psg22	APN	7	18719533	missense	probably damaging	0.98
IGL02977:Psg22	APN	7	18719599	missense	probably benign	0.20
R0470:Psg22	UTSW	7	18719664	missense	probably damaging	0.99
R1902:Psg22	UTSW	7	18724438	nonsense	probably null
R1935:Psg22	UTSW	7	18719710	missense	probably damaging	0.99
R1936:Psg22	UTSW	7	18719710	missense	probably damaging	0.99
R2013:Psg22	UTSW	7	18719635	missense	possibly damaging	0.93
R2278:Psg22	UTSW	7	18726837	missense	possibly damaging	0.80
R4258:Psg22	UTSW	7	18724629	missense	probably damaging	1.00
R5029:Psg22	UTSW	7	18719737	missense	probably damaging	1.00
R5885:Psg22	UTSW	7	18718332	missense	probably damaging	0.98
R6084:Psg22	UTSW	7	18719780	missense	probably benign	0.01
R6143:Psg22	UTSW	7	18722798	missense	probably benign	0.03
R6209:Psg22	UTSW	7	18719674	missense	probably damaging	1.00
R7017:Psg22	UTSW	7	18724441	missense	probably benign	0.01
R7337:Psg22	UTSW	7	18719574	missense	probably benign	0.20
R7417:Psg22	UTSW	7	18722966	missense	probably damaging	1.00
R7460:Psg22	UTSW	7	18724404	missense	probably benign	0.03
R7570:Psg22	UTSW	7	18722735	missense	possibly damaging	0.95
R7650:Psg22	UTSW	7	18726759	missense	possibly damaging	0.66
R7711:Psg22	UTSW	7	18718342	critical splice donor site	probably null
R7991:Psg22	UTSW	7	18726936	missense	probably damaging	1.00
R8003:Psg22	UTSW	7	18724425	missense	probably damaging	1.00
R8066:Psg22	UTSW	7	18718293	missense	possibly damaging	0.88
R8113:Psg22	UTSW	7	18723062	missense	probably benign	0.00
R9136:Psg22	UTSW	7	18726886	missense	probably damaging	1.00
R9148:Psg22	UTSW	7	18726757	missense	probably benign	0.09
R9152:Psg22	UTSW	7	18726721	missense	probably damaging	0.97
R9344:Psg22	UTSW	7	18726891	missense	possibly damaging	0.69
R9666:Psg22	UTSW	7	18724323	missense	probably benign
R9801:Psg22	UTSW	7	18722974	missense	probably benign	0.11
X0064:Psg22	UTSW	7	18718181	missense	probably benign	0.01
Z1177:Psg22	UTSW	7	18719677	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- TCTGCCAGAGAATCTTCGAGTC -3'
(R):5'- GACATTGTTCTCCACCATGTGTG -3'

Sequencing Primer
(F):5'- GCCAGAGAATCTTCGAGTCTTTGTC -3'
(R):5'- TGCTCAAGCCCCAATATGGAG -3'

Posted On

2020-01-23