Mutagenetix > Incidental Mutation

Incidental Mutation 'R7417:Psg22'

575380

Institutional Source

Beutler Lab

Gene Symbol

Psg22

Ensembl Gene

ENSMUSG00000044903

Gene Name

pregnancy-specific beta-1-glycoprotein 22

Synonyms

cea9

MMRRC Submission

045495-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R7417 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18452015-18461173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18456891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 258 (E258G)

Ref Sequence

ENSEMBL: ENSMUSP00000104121 (fasta)

Gene Model

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

AlphaFold

Q810J1

Predicted Effect

probably damaging
Transcript: ENSMUST00000051973
AA Change: E219G

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

SMART Domains

Protein: ENSMUSP00000050633
Gene: ENSMUSG00000044903
AA Change: E219G

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: E258G

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

SMART Domains

Protein: ENSMUSP00000104121
Gene: ENSMUSG00000044903
AA Change: E258G

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: E219G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	G	A	17: 48,460,057 (GRCm39)	T213I	probably damaging	Het
Akr1b7	G	A	6: 34,394,300 (GRCm39)		probably null	Het
Aldh6a1	T	C	12: 84,488,556 (GRCm39)	Q110R	probably benign	Het
Alg11	A	T	8: 22,552,044 (GRCm39)	T63S	probably benign	Het
Ankrd13b	A	G	11: 77,367,020 (GRCm39)	Y271H	probably damaging	Het
Ano8	T	A	8: 71,933,477 (GRCm39)	D605V	unknown	Het
Best2	C	T	8: 85,736,295 (GRCm39)		probably null	Het
Brca1	A	G	11: 101,415,807 (GRCm39)	S776P	probably damaging	Het
Capn7	T	C	14: 31,092,663 (GRCm39)	Y737H	probably damaging	Het
Cblc	A	T	7: 19,522,899 (GRCm39)	S333T	probably benign	Het
Ccm2	T	A	11: 6,543,091 (GRCm39)	M257K	probably benign	Het
Cd320	T	A	17: 34,066,530 (GRCm39)	C103*	probably null	Het
Cd53	A	G	3: 106,676,235 (GRCm39)	F44S	probably benign	Het
Col9a2	G	A	4: 120,911,489 (GRCm39)	R610H	not run	Het
Cubn	T	C	2: 13,431,778 (GRCm39)	I1272V	probably benign	Het
Cyp2j7	C	T	4: 96,090,225 (GRCm39)		probably null	Het
Dmrt2	A	T	19: 25,655,962 (GRCm39)	R520S	probably benign	Het
Dnai3	A	T	3: 145,798,835 (GRCm39)		probably null	Het
Drg2	A	G	11: 60,345,506 (GRCm39)	M1V	probably null	Het
Ect2	A	G	3: 27,152,568 (GRCm39)	S908P	probably damaging	Het
Eipr1	A	G	12: 28,916,954 (GRCm39)	T341A	probably benign	Het
Ell3	A	C	2: 121,270,891 (GRCm39)	I214R	probably benign	Het
Emsy	A	T	7: 98,264,693 (GRCm39)	L568Q	probably damaging	Het
Foxd4	T	C	19: 24,877,826 (GRCm39)	T125A	probably damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Gcsam	C	A	16: 45,440,240 (GRCm39)	H94Q	probably damaging	Het
Ginm1	T	A	10: 7,649,844 (GRCm39)	I150F	probably damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hk2	G	A	6: 82,720,326 (GRCm39)	A205V	probably damaging	Het
Il3ra	A	T	14: 14,349,345 (GRCm38)	H147L	probably benign	Het
Map3k6	T	A	4: 132,975,707 (GRCm39)	S732T	probably benign	Het
Masp2	A	G	4: 148,690,178 (GRCm39)	E229G	probably benign	Het
Mccc2	A	G	13: 100,108,285 (GRCm39)		probably null	Het
Mia3	A	G	1: 183,108,508 (GRCm39)	V359A		Het
Mob1a	A	T	6: 83,309,492 (GRCm39)	T80S	probably benign	Het
Msantd2	G	A	9: 37,434,590 (GRCm39)	G478S	probably damaging	Het
Mtf1	A	G	4: 124,718,974 (GRCm39)	E329G	probably null	Het
Myh9	T	A	15: 77,648,065 (GRCm39)	K1804*	probably null	Het
Ndst3	A	G	3: 123,465,313 (GRCm39)	W220R	probably damaging	Het
Nln	A	G	13: 104,173,478 (GRCm39)	L576P	probably damaging	Het
Nlrc4	A	G	17: 74,753,483 (GRCm39)	M300T	probably benign	Het
Obscn	G	T	11: 59,020,403 (GRCm39)	D880E	possibly damaging	Het
Oprd1	T	C	4: 131,844,763 (GRCm39)	T82A	probably damaging	Het
Or2n1d	T	A	17: 38,646,183 (GRCm39)	I45N	probably damaging	Het
Or4f60	A	C	2: 111,902,445 (GRCm39)	V161G	probably benign	Het
Orc3	A	G	4: 34,595,136 (GRCm39)	C278R	probably damaging	Het
Pde4d	T	A	13: 109,769,322 (GRCm39)		probably null	Het
Pms1	T	C	1: 53,236,231 (GRCm39)	E683G	probably benign	Het
Prdm2	A	T	4: 142,905,869 (GRCm39)	Y73N	probably damaging	Het
Prkaa2	T	C	4: 104,932,740 (GRCm39)	Q36R	probably benign	Het
Ptprf	T	C	4: 118,069,369 (GRCm39)	D1566G	probably damaging	Het
Rfwd3	T	A	8: 111,999,701 (GRCm39)	Y759F	probably benign	Het
Ripor2	A	G	13: 24,880,533 (GRCm39)	D411G	probably damaging	Het
Ryr2	A	C	13: 11,571,634 (GRCm39)		probably null	Het
Sdr42e1	T	C	8: 118,389,490 (GRCm39)	T384A	probably benign	Het
Sec1	A	T	7: 45,334,149 (GRCm39)		probably null	Het
Sec16a	A	T	2: 26,311,409 (GRCm39)	F616I		Het
Sipa1l2	T	C	8: 126,208,845 (GRCm39)	D521G	possibly damaging	Het
Smc1b	T	A	15: 84,981,743 (GRCm39)	Q759L	probably benign	Het
Snph	A	T	2: 151,442,263 (GRCm39)	S57R	probably damaging	Het
Sqor	A	T	2: 122,629,450 (GRCm39)	T103S	probably benign	Het
Srbd1	A	G	17: 86,443,749 (GRCm39)	V159A	probably benign	Het
Srsf2	A	T	11: 116,743,727 (GRCm39)	V10E	probably damaging	Het
Swap70	T	A	7: 109,863,316 (GRCm39)		probably null	Het
Synm	A	C	7: 67,382,954 (GRCm39)	*675G	probably null	Het
Tek	A	G	4: 94,699,582 (GRCm39)	E320G	probably benign	Het
Tenm3	T	C	8: 48,689,218 (GRCm39)	D2123G	probably damaging	Het
Tmod4	A	G	3: 95,033,174 (GRCm39)	K56R	possibly damaging	Het
Top3b	G	A	16: 16,695,714 (GRCm39)		probably benign	Het
Tssc4	G	T	7: 142,624,425 (GRCm39)	E244D	possibly damaging	Het
Twnk	G	A	19: 44,999,003 (GRCm39)		probably null	Het
Ube4a	A	C	9: 44,868,011 (GRCm39)	I45S	probably benign	Het
Unc79	A	T	12: 103,055,017 (GRCm39)	M954L	possibly damaging	Het
Vcpip1	A	T	1: 9,816,540 (GRCm39)	D614E	probably benign	Het
Vmn1r45	T	A	6: 89,910,035 (GRCm39)	I312L	probably benign	Het
Vmn1r77	A	G	7: 11,775,611 (GRCm39)	Y129C	probably damaging	Het
Zer1	A	G	2: 29,992,834 (GRCm39)	L600P	probably damaging	Het
Zfp266	T	C	9: 20,412,232 (GRCm39)	T114A	probably benign	Het
Zrsr2-ps1	T	C	11: 22,924,662 (GRCm39)		probably null	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
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'- CTGCACTCCTCACTATTGAATCAG -3'
(R):5'- TCACATGCCAGCAGTGACAG -3'

Sequencing Primer
(F):5'- TATTGAATCAGTGCCAGCCAG -3'
(R):5'- ACAGTGATCCTGGTAGAAGCCC -3'

Posted On

2019-10-07