Mutagenetix > Incidental Mutation

Incidental Mutation 'R7991:Psg22'

651731

Institutional Source

Beutler Lab

Gene Symbol

Psg22

Ensembl Gene

ENSMUSG00000044903

Gene Name

pregnancy-specific beta-1-glycoprotein 22

Synonyms

cea9

MMRRC Submission

046032-MU

Accession Numbers

Essential gene?

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

Stock #

R7991 (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 C at 18460861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 497 (N497H)

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: N458H

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

SMART Domains

Protein: ENSMUSP00000050633
Gene: ENSMUSG00000044903
AA Change: N458H

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: N497H

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

SMART Domains

Protein: ENSMUSP00000104121
Gene: ENSMUSG00000044903
AA Change: N497H

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: N458H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,185,726 (GRCm39)	D1200G	probably damaging	Het
Adnp2	A	G	18: 80,172,537 (GRCm39)	L624P	probably damaging	Het
Akap9	A	G	5: 4,114,949 (GRCm39)		probably null	Het
Ap2a2	A	G	7: 141,189,760 (GRCm39)	Y249C	probably damaging	Het
Asxl2	A	T	12: 3,534,531 (GRCm39)	N243Y	probably damaging	Het
Btnl4	A	G	17: 34,693,257 (GRCm39)	S53P	probably damaging	Het
Caly	T	C	7: 139,651,513 (GRCm39)	D116G	possibly damaging	Het
Ccdc121rt2	G	A	5: 112,598,791 (GRCm39)	R446H	probably benign	Het
Ccdc168	T	A	1: 44,098,869 (GRCm39)	H743L	probably benign	Het
Ccdc81	G	A	7: 89,539,609 (GRCm39)	A209V	probably benign	Het
Cdc14a	A	G	3: 116,101,887 (GRCm39)	S347P	probably benign	Het
Cdh9	G	T	15: 16,828,489 (GRCm39)	A194S	probably damaging	Het
Clca3a2	A	G	3: 144,519,756 (GRCm39)	V206A	probably benign	Het
Clca4a	A	T	3: 144,658,500 (GRCm39)	V905E	possibly damaging	Het
Cluap1	A	G	16: 3,746,485 (GRCm39)	E282G	probably damaging	Het
Cmtm2b	T	A	8: 105,056,419 (GRCm39)	C109*	probably null	Het
Crtac1	T	C	19: 42,322,399 (GRCm39)	N114D	probably benign	Het
Dennd1b	T	C	1: 139,013,634 (GRCm39)	Y168H		Het
Dock6	T	C	9: 21,757,858 (GRCm39)	D82G	probably damaging	Het
Eps8	C	T	6: 137,505,569 (GRCm39)	R53Q	possibly damaging	Het
Erfl	G	A	7: 24,627,975 (GRCm39)	P185S	possibly damaging	Het
Fh1	T	C	1: 175,437,337 (GRCm39)	Y254C	probably damaging	Het
H2-Q1	T	A	17: 35,540,356 (GRCm39)	L147Q	probably damaging	Het
H3c8	T	A	13: 23,719,887 (GRCm39)	M91K	probably benign	Het
Hnrnpu	A	T	1: 178,159,871 (GRCm39)	D403E	unknown	Het
Il34	T	C	8: 111,476,122 (GRCm39)	K33E	probably benign	Het
Klhl20	A	G	1: 160,934,434 (GRCm39)	V195A	possibly damaging	Het
Lair1	G	T	7: 4,031,969 (GRCm39)	T46N	probably damaging	Het
Lama4	A	G	10: 38,921,805 (GRCm39)	E442G	possibly damaging	Het
Lifr	A	T	15: 7,202,963 (GRCm39)	I400F	possibly damaging	Het
Man2a1	T	C	17: 64,908,771 (GRCm39)	I14T	probably benign	Het
Or13p10	T	A	4: 118,523,489 (GRCm39)	C258*	probably null	Het
Or1ad8	T	G	11: 50,898,071 (GRCm39)	S91A	possibly damaging	Het
Or4z4	A	C	19: 12,076,190 (GRCm39)	V271G	possibly damaging	Het
Or51h7	A	G	7: 102,591,760 (GRCm39)	L8P	probably benign	Het
Or5an10	T	A	19: 12,275,639 (GRCm39)	I286F	probably damaging	Het
Or8s10	T	C	15: 98,335,419 (GRCm39)	I23T	probably benign	Het
Papss2	G	T	19: 32,629,403 (GRCm39)	V331F	possibly damaging	Het
Pcdha11	T	C	18: 37,145,909 (GRCm39)	S667P	probably damaging	Het
Pcolce	A	T	5: 137,607,390 (GRCm39)	S75T	probably benign	Het
Phf20l1	A	C	15: 66,502,768 (GRCm39)	D716A	possibly damaging	Het
Pkd1	A	G	17: 24,791,595 (GRCm39)	E1094G	possibly damaging	Het
Ppm1h	A	G	10: 122,618,152 (GRCm39)	K104E	probably benign	Het
Ppp6r3	T	C	19: 3,509,750 (GRCm39)	Y195C	probably benign	Het
Pramel6	T	A	2: 87,340,031 (GRCm39)	L265Q	probably benign	Het
Prc1	A	T	7: 79,961,969 (GRCm39)	N489I	possibly damaging	Het
Prss59	A	C	6: 40,905,444 (GRCm39)		probably null	Het
Pum3	T	A	19: 27,389,620 (GRCm39)	I411F	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rev3l	A	T	10: 39,739,734 (GRCm39)	I2861L	possibly damaging	Het
Rsf1	A	C	7: 97,310,540 (GRCm39)	K423N		Het
Samd4b	A	G	7: 28,103,458 (GRCm39)	I553T	probably benign	Het
Septin3	A	G	15: 82,170,654 (GRCm39)	E216G	probably benign	Het
Sppl2c	T	C	11: 104,078,640 (GRCm39)	V480A	possibly damaging	Het
Sppl2c	A	G	11: 104,078,189 (GRCm39)	T330A	probably benign	Het
Srebf2	A	G	15: 82,088,253 (GRCm39)	D1073G	probably damaging	Het
Sv2c	C	T	13: 96,224,797 (GRCm39)	V171M	probably damaging	Het
Tbc1d4	T	A	14: 101,845,715 (GRCm39)	E61V	probably damaging	Het
Tnc	T	A	4: 63,926,983 (GRCm39)	T848S	probably benign	Het
Trmt5	A	G	12: 73,329,439 (GRCm39)	Y240H	probably damaging	Het
Trpv1	T	C	11: 73,132,583 (GRCm39)	V399A	possibly damaging	Het
Tstd2	T	C	4: 46,133,646 (GRCm39)	T59A	unknown	Het
Ubash3a	T	A	17: 31,456,869 (GRCm39)	L510M	probably benign	Het
Ubr3	T	A	2: 69,783,200 (GRCm39)	I713N	probably damaging	Het
Upf3a	A	G	8: 13,842,166 (GRCm39)	E194G	probably damaging	Het
Usp22	A	T	11: 61,065,588 (GRCm39)	Y42N	probably benign	Het
Vav3	T	A	3: 109,470,478 (GRCm39)	C555S	probably damaging	Het
Vmn1r210	T	A	13: 23,011,684 (GRCm39)	M201L	probably benign	Het
Wdr64	C	A	1: 175,554,051 (GRCm39)	Q194K	probably benign	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
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'- TCGAATACAGGGCTCAGTGG -3'
(R):5'- CCGTAGGCTGCATTGTGTATC -3'

Sequencing Primer
(F):5'- AATACAGGGCTCAGTGGTCTTCAC -3'
(R):5'- GGCCAAGGAAGCATGTTTAATCTC -3'

Posted On

2020-09-15