Mutagenetix > Incidental Mutation

Incidental Mutation 'R5225:Psg18'

402551

Institutional Source

Beutler Lab

Gene Symbol

Psg18

Ensembl Gene

ENSMUSG00000003505

Gene Name

pregnancy specific glycoprotein 18

Synonyms

Cea-3, Cea3, mmCGM6

MMRRC Submission

042798-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18345422-18355009 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18345949 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 442 (I442M)

Ref Sequence

ENSEMBL: ENSMUSP00000003597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003597] [ENSMUST00000098783]

AlphaFold

B2RSG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000003597
AA Change: I442M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: I442M

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
IG	40	140	2.11e-2	SMART
IG	161	262	1.03e0	SMART
IG	281	380	2.15e-3	SMART
IGc2	398	462	1.58e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098783

SMART Domains

Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505

Domain	Start	End	E-Value	Type
IG	40	141	1.03e0	SMART
IG	160	259	2.15e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000182983
AA Change: I101M

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183222

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	C	T	17: 9,008,007 (GRCm38)	R465*	probably null	Het
Abcg3	A	T	5: 104,966,783 (GRCm38)	D289E	probably damaging	Het
Ablim2	G	T	5: 35,866,771 (GRCm38)		probably null	Het
Acp1	A	T	12: 30,905,079 (GRCm38)	V36D	probably benign	Het
Adgrb1	T	A	15: 74,577,499 (GRCm38)		probably benign	Het
Akap6	G	A	12: 52,886,546 (GRCm38)	V274I	probably damaging	Het
Arhgap39	T	C	15: 76,725,515 (GRCm38)		probably benign	Het
Bmp1	G	A	14: 70,480,165 (GRCm38)	R789W	probably damaging	Het
Cfhr2	T	A	1: 139,821,782 (GRCm38)	Y154F	possibly damaging	Het
Cilp2	T	C	8: 69,883,365 (GRCm38)	Y358C	probably damaging	Het
Cyp1a2	T	A	9: 57,677,233 (GRCm38)	K513*	probably null	Het
Dennd4a	G	T	9: 64,888,928 (GRCm38)	K745N	possibly damaging	Het
Dlg1	T	A	16: 31,836,267 (GRCm38)	S542T	probably benign	Het
Dmbt1	A	T	7: 131,094,735 (GRCm38)	I893F	possibly damaging	Het
Dnhd1	A	T	7: 105,703,923 (GRCm38)	E2761V	possibly damaging	Het
F11	T	C	8: 45,255,304 (GRCm38)	T40A	probably benign	Het
Fam227a	T	C	15: 79,636,735 (GRCm38)	D296G	possibly damaging	Het
Fance	C	T	17: 28,315,615 (GRCm38)		probably benign	Het
Gaa	A	G	11: 119,276,843 (GRCm38)	D149G	probably damaging	Het
Gapt	A	G	13: 110,353,988 (GRCm38)	M47T	possibly damaging	Het
Gm1110	T	C	9: 26,902,478 (GRCm38)	N202D	probably damaging	Het
Gm16432	A	T	1: 178,148,908 (GRCm38)		probably benign	Het
Gm7535	T	C	17: 17,911,547 (GRCm38)		probably benign	Het
Gm973	T	A	1: 59,562,700 (GRCm38)	M491K	probably benign	Het
Gmnc	A	G	16: 26,963,945 (GRCm38)	V27A	probably benign	Het
Kif27	T	C	13: 58,293,101 (GRCm38)	T1167A	possibly damaging	Het
Klrg1	T	A	6: 122,271,372 (GRCm38)	*189C	probably null	Het
Lime1	T	A	2: 181,382,847 (GRCm38)	M98K	probably benign	Het
Lrp1	C	A	10: 127,556,096 (GRCm38)	A2867S	probably benign	Het
Lrrd1	G	A	5: 3,858,735 (GRCm38)	S669N	probably benign	Het
Mmel1	A	G	4: 154,891,999 (GRCm38)	N520S	probably damaging	Het
Mrpl48	A	C	7: 100,549,328 (GRCm38)	L206V	probably damaging	Het
Nagpa	C	T	16: 5,203,732 (GRCm38)	A52T	probably benign	Het
Olfr1264	T	G	2: 90,021,184 (GRCm38)	D294A	probably benign	Het
Olfr98	A	G	17: 37,263,028 (GRCm38)	V212A	probably benign	Het
Orai2	A	G	5: 136,161,501 (GRCm38)	S71P	probably damaging	Het
Pcbp1	A	T	6: 86,525,227 (GRCm38)	I230N	probably damaging	Het
Pcdh15	T	C	10: 74,303,154 (GRCm38)	L349P	probably damaging	Het
Pcdhb16	T	C	18: 37,479,958 (GRCm38)	V657A	probably benign	Het
Prdm15	G	T	16: 97,808,675 (GRCm38)	H590N	probably damaging	Het
Pygm	C	A	19: 6,389,464 (GRCm38)	D279E	probably benign	Het
Rrn3	T	A	16: 13,792,934 (GRCm38)		probably null	Het
Sass6	T	C	3: 116,614,053 (GRCm38)	S273P	possibly damaging	Het
Schip1	A	G	3: 68,494,937 (GRCm38)	M116V	probably benign	Het
Sdc3	G	A	4: 130,818,776 (GRCm38)	V55I	unknown	Het
Serpinb8	T	A	1: 107,597,471 (GRCm38)	M1K	probably null	Het
Slc24a5	T	C	2: 125,085,819 (GRCm38)	I346T	probably damaging	Het
Slc35f3	T	A	8: 126,391,107 (GRCm38)	I335N	probably damaging	Het
Snapc2	T	A	8: 4,255,299 (GRCm38)	V147E	probably damaging	Het
Snx2	T	C	18: 53,189,712 (GRCm38)	S56P	possibly damaging	Het
Sptbn5	A	G	2: 120,085,331 (GRCm38)		probably benign	Het
Stk19	A	T	17: 34,821,424 (GRCm38)		probably benign	Het
Sulf1	A	G	1: 12,841,478 (GRCm38)	E692G	probably benign	Het
Tet1	C	T	10: 62,838,671 (GRCm38)	V1209I	probably damaging	Het
Tln1	T	C	4: 43,539,406 (GRCm38)	T1639A	probably benign	Het
Tmem135	G	T	7: 89,196,127 (GRCm38)	Y165*	probably null	Het
Tmprss6	T	C	15: 78,452,507 (GRCm38)	T398A	probably damaging	Het
Ube4a	C	T	9: 44,939,960 (GRCm38)		probably null	Het
Vmn1r227	T	C	17: 20,735,237 (GRCm38)		noncoding transcript	Het
Wdhd1	T	C	14: 47,250,816 (GRCm38)	S745G	probably benign	Het
Xylt1	A	G	7: 117,592,036 (GRCm38)	H353R	probably damaging	Het
Zfp788	A	G	7: 41,649,556 (GRCm38)	T539A	probably benign	Het
Zfp866	A	T	8: 69,765,441 (GRCm38)	F510I	possibly damaging	Het

Other mutations in Psg18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01458:Psg18	APN	7	18,354,816 (GRCm38)	start codon destroyed	probably null	0.99
IGL01748:Psg18	APN	7	18,353,551 (GRCm38)	missense	probably benign	0.05
IGL01767:Psg18	APN	7	18,353,397 (GRCm38)	missense	possibly damaging	0.80
IGL02727:Psg18	APN	7	18,345,950 (GRCm38)	missense	probably damaging	1.00
IGL02744:Psg18	APN	7	18,349,402 (GRCm38)	missense	probably benign	0.38
G1Funyon:Psg18	UTSW	7	18,353,377 (GRCm38)	missense	probably damaging	0.99
PIT4466001:Psg18	UTSW	7	18,349,316 (GRCm38)	missense	probably benign	0.30
R0331:Psg18	UTSW	7	18,353,308 (GRCm38)	missense	probably benign	0.03
R1077:Psg18	UTSW	7	18,351,075 (GRCm38)	missense	possibly damaging	0.84
R1171:Psg18	UTSW	7	18,346,079 (GRCm38)	missense	probably benign	0.10
R1173:Psg18	UTSW	7	18,354,817 (GRCm38)	start codon destroyed	probably null	0.97
R1234:Psg18	UTSW	7	18,349,190 (GRCm38)	missense	probably damaging	1.00
R1553:Psg18	UTSW	7	18,353,481 (GRCm38)	missense	probably benign	0.19
R1632:Psg18	UTSW	7	18,350,899 (GRCm38)	missense	probably benign	0.02
R2108:Psg18	UTSW	7	18,350,874 (GRCm38)	missense	probably damaging	1.00
R2439:Psg18	UTSW	7	18,346,119 (GRCm38)	missense	probably benign	0.24
R3032:Psg18	UTSW	7	18,350,979 (GRCm38)	missense	probably benign	0.01
R3053:Psg18	UTSW	7	18,349,193 (GRCm38)	missense	probably damaging	1.00
R3432:Psg18	UTSW	7	18,349,171 (GRCm38)	missense	possibly damaging	0.61
R3725:Psg18	UTSW	7	18,354,823 (GRCm38)	start gained	probably benign
R4479:Psg18	UTSW	7	18,350,862 (GRCm38)	missense	probably benign	0.01
R4480:Psg18	UTSW	7	18,350,862 (GRCm38)	missense	probably benign	0.01
R4846:Psg18	UTSW	7	18,350,786 (GRCm38)	nonsense	probably null
R4858:Psg18	UTSW	7	18,353,484 (GRCm38)	missense	possibly damaging	0.49
R5010:Psg18	UTSW	7	18,349,354 (GRCm38)	missense	probably damaging	1.00
R5450:Psg18	UTSW	7	18,353,425 (GRCm38)	missense	probably benign	0.32
R5526:Psg18	UTSW	7	18,349,348 (GRCm38)	missense	probably damaging	1.00
R5840:Psg18	UTSW	7	18,346,602 (GRCm38)	intron	probably benign
R6409:Psg18	UTSW	7	18,353,521 (GRCm38)	missense	probably benign
R7164:Psg18	UTSW	7	18,350,937 (GRCm38)	missense	possibly damaging	0.89
R7276:Psg18	UTSW	7	18,345,984 (GRCm38)	missense	probably damaging	0.99
R7768:Psg18	UTSW	7	18,346,028 (GRCm38)	missense	probably damaging	1.00
R8301:Psg18	UTSW	7	18,353,377 (GRCm38)	missense	probably damaging	0.99
R8700:Psg18	UTSW	7	18,353,625 (GRCm38)	missense	probably damaging	1.00
R8982:Psg18	UTSW	7	18,349,375 (GRCm38)	missense	probably benign	0.20
R9042:Psg18	UTSW	7	18,349,122 (GRCm38)	missense	probably benign	0.44
R9054:Psg18	UTSW	7	18,353,525 (GRCm38)	missense	possibly damaging	0.82
R9442:Psg18	UTSW	7	18,349,260 (GRCm38)	nonsense	probably null
R9538:Psg18	UTSW	7	18,350,788 (GRCm38)	missense	probably benign	0.01
R9689:Psg18	UTSW	7	18,350,955 (GRCm38)	missense	probably benign	0.00
Z1176:Psg18	UTSW	7	18,354,787 (GRCm38)	missense	probably benign	0.07
Z1177:Psg18	UTSW	7	18,349,198 (GRCm38)	missense	probably benign	0.10
Z1177:Psg18	UTSW	7	18,349,115 (GRCm38)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- CTGAGCAGAGCAGTGTGTG -3'
(R):5'- CAGCCTGCCATGAGAGTCAC -3'

Sequencing Primer
(F):5'- TCATCCTTAGTGAAGTAACCCAG -3'
(R):5'- GTCACAGATAGCACAGTTCGAGTAC -3'

Posted On

2016-07-22