Mutagenetix > Incidental Mutation

Incidental Mutation 'R9689:Psg18'

729041

Institutional Source

Beutler Lab

Gene Symbol

Psg18

Ensembl Gene

ENSMUSG00000003505

Gene Name

pregnancy specific beta-1-glycoprotein 18

Synonyms

Cea-3, mmCGM6, Cea3

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R9689 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18079669-18088963 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18084880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 193 (I193T)

Ref Sequence

ENSEMBL: ENSMUSP00000003597 (fasta)

Gene Model

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

AlphaFold

B2RSG7

Predicted Effect

probably benign
Transcript: ENSMUST00000003597
AA Change: I193T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: I193T

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
AA Change: I72T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505
AA Change: I72T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000182983

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	A	5: 81,942,780 (GRCm39)	V1538E	probably damaging	Het
Ank1	T	C	8: 23,631,253 (GRCm39)	V1833A	probably benign	Het
Apc2	G	A	10: 80,150,733 (GRCm39)	R1929Q	probably damaging	Het
Asb1	A	G	1: 91,474,708 (GRCm39)	I85V	probably damaging	Het
Bco2	A	T	9: 50,445,938 (GRCm39)	I486K	probably damaging	Het
Braf	T	A	6: 39,591,084 (GRCm39)	I792F	probably damaging	Het
Cacng2	T	C	15: 77,879,399 (GRCm39)	K308E	possibly damaging	Het
Ccr6	G	T	17: 8,475,821 (GRCm39)	R342L	possibly damaging	Het
Cdh16	T	A	8: 105,341,108 (GRCm39)	I802F	probably benign	Het
Cftr	T	C	6: 18,313,649 (GRCm39)	I1291T	probably damaging	Het
CN725425	T	A	15: 91,120,030 (GRCm39)	D50E	possibly damaging	Het
Cnga1	T	C	5: 72,762,170 (GRCm39)	Y448C	probably benign	Het
Cntnap1	T	C	11: 101,072,178 (GRCm39)	I477T	probably damaging	Het
Col18a1	G	A	10: 76,916,578 (GRCm39)	Q366*	probably null	Het
Csf3	C	A	11: 98,592,949 (GRCm39)	A104D	probably benign	Het
Dmbt1	A	G	7: 130,660,015 (GRCm39)	H422R	unknown	Het
Dnah12	A	G	14: 26,590,871 (GRCm39)	D3325G	probably null	Het
Dnah17	T	C	11: 117,963,731 (GRCm39)	D2514G	probably damaging	Het
Fgf9	T	A	14: 58,310,680 (GRCm39)	H56Q	probably damaging	Het
Fgfr3	A	T	5: 33,892,248 (GRCm39)	Y689F	probably damaging	Het
Fhip2a	G	A	19: 57,369,710 (GRCm39)	V418I	probably benign	Het
Gar1	A	T	3: 129,624,269 (GRCm39)	D74E	probably damaging	Het
Helq	T	C	5: 100,934,927 (GRCm39)	K488E	possibly damaging	Het
Hmg20a	A	G	9: 56,381,823 (GRCm39)	H33R	possibly damaging	Het
Igsf10	T	C	3: 59,233,624 (GRCm39)	D1703G	probably damaging	Het
Jph3	A	T	8: 122,480,377 (GRCm39)	I352F	probably benign	Het
Kng1	T	C	16: 22,879,224 (GRCm39)	F96S	probably damaging	Het
Krtap5-2	C	A	7: 141,729,029 (GRCm39)	S217I	unknown	Het
Lamp3	T	C	16: 19,518,455 (GRCm39)	S261G	possibly damaging	Het
Macf1	A	G	4: 123,365,654 (GRCm39)	F3036L	probably benign	Het
Map4k4	G	A	1: 40,058,722 (GRCm39)	R972H	possibly damaging	Het
Mccc1	C	T	3: 36,030,903 (GRCm39)	D388N	probably benign	Het
Mcoln1	T	A	8: 3,557,436 (GRCm39)	Y147*	probably null	Het
Mei1	T	C	15: 81,997,129 (GRCm39)	S622P		Het
Ms4a5	T	C	19: 11,254,058 (GRCm39)	I136M	possibly damaging	Het
Nav3	A	G	10: 109,605,034 (GRCm39)	L1013P	probably damaging	Het
Ndrg2	T	C	14: 52,146,071 (GRCm39)	N170S	probably damaging	Het
Ndufa12	G	A	10: 94,035,832 (GRCm39)	G40D	probably damaging	Het
Ogdhl	T	A	14: 32,059,523 (GRCm39)	V390E	probably damaging	Het
Or10ak12	A	C	4: 118,666,999 (GRCm39)	S21A	probably benign	Het
Or1e26	T	C	11: 73,479,686 (GRCm39)	R293G	probably damaging	Het
Or4d10	A	T	19: 12,051,567 (GRCm39)	I143K	possibly damaging	Het
Or4f6	T	A	2: 111,839,124 (GRCm39)	M136L	probably benign	Het
Or8g37	A	T	9: 39,731,801 (GRCm39)	I289F	possibly damaging	Het
Osgin1	A	G	8: 120,172,247 (GRCm39)	D347G	possibly damaging	Het
Oxct2a	A	T	4: 123,216,687 (GRCm39)	N231K	probably damaging	Het
Pak6	C	T	2: 118,520,243 (GRCm39)	T78M	probably benign	Het
Pde4dip	T	C	3: 97,649,841 (GRCm39)	Y1006C	probably damaging	Het
Psmd2	C	A	16: 20,479,173 (GRCm39)	H677Q	probably benign	Het
Resf1	T	A	6: 149,229,766 (GRCm39)	C937*	probably null	Het
Scaf11	C	T	15: 96,316,195 (GRCm39)	R1123H	probably damaging	Het
Setx	A	T	2: 29,051,555 (GRCm39)	S2036C	probably damaging	Het
Skint6	A	G	4: 113,093,546 (GRCm39)	F199S	probably damaging	Het
Slc3a2	A	T	19: 8,686,594 (GRCm39)	S367R	probably damaging	Het
Spidr	T	C	16: 15,871,304 (GRCm39)	D222G	probably damaging	Het
Styxl1	T	C	5: 135,799,190 (GRCm39)	E8G	probably null	Het
Sycp2l	T	A	13: 41,295,256 (GRCm39)	F308I	probably damaging	Het
Syk	A	C	13: 52,778,808 (GRCm39)	K298T	probably benign	Het
Tcp11	T	A	17: 28,286,028 (GRCm39)	Q529L	possibly damaging	Het
Tgfbi	A	G	13: 56,762,100 (GRCm39)	Y61C	probably damaging	Het
Tlr9	G	A	9: 106,100,721 (GRCm39)	R4H	probably benign	Het
Top2a	A	C	11: 98,914,883 (GRCm39)	S4A	probably benign	Het
Ttc4	G	T	4: 106,528,919 (GRCm39)	H166N	probably benign	Het
Ube2o	C	A	11: 116,435,639 (GRCm39)	R383L	possibly damaging	Het
Umod	A	G	7: 119,076,517 (GRCm39)	V83A	possibly damaging	Het

Other mutations in Psg18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01458:Psg18	APN	7	18,088,741 (GRCm39)	start codon destroyed	probably null	0.99
IGL01748:Psg18	APN	7	18,087,476 (GRCm39)	missense	probably benign	0.05
IGL01767:Psg18	APN	7	18,087,322 (GRCm39)	missense	possibly damaging	0.80
IGL02727:Psg18	APN	7	18,079,875 (GRCm39)	missense	probably damaging	1.00
IGL02744:Psg18	APN	7	18,083,327 (GRCm39)	missense	probably benign	0.38
G1Funyon:Psg18	UTSW	7	18,087,302 (GRCm39)	missense	probably damaging	0.99
PIT4466001:Psg18	UTSW	7	18,083,241 (GRCm39)	missense	probably benign	0.30
R0331:Psg18	UTSW	7	18,087,233 (GRCm39)	missense	probably benign	0.03
R1077:Psg18	UTSW	7	18,085,000 (GRCm39)	missense	possibly damaging	0.84
R1171:Psg18	UTSW	7	18,080,004 (GRCm39)	missense	probably benign	0.10
R1173:Psg18	UTSW	7	18,088,742 (GRCm39)	start codon destroyed	probably null	0.97
R1234:Psg18	UTSW	7	18,083,115 (GRCm39)	missense	probably damaging	1.00
R1553:Psg18	UTSW	7	18,087,406 (GRCm39)	missense	probably benign	0.19
R1632:Psg18	UTSW	7	18,084,824 (GRCm39)	missense	probably benign	0.02
R2108:Psg18	UTSW	7	18,084,799 (GRCm39)	missense	probably damaging	1.00
R2439:Psg18	UTSW	7	18,080,044 (GRCm39)	missense	probably benign	0.24
R3032:Psg18	UTSW	7	18,084,904 (GRCm39)	missense	probably benign	0.01
R3053:Psg18	UTSW	7	18,083,118 (GRCm39)	missense	probably damaging	1.00
R3432:Psg18	UTSW	7	18,083,096 (GRCm39)	missense	possibly damaging	0.61
R3725:Psg18	UTSW	7	18,088,748 (GRCm39)	start gained	probably benign
R4479:Psg18	UTSW	7	18,084,787 (GRCm39)	missense	probably benign	0.01
R4480:Psg18	UTSW	7	18,084,787 (GRCm39)	missense	probably benign	0.01
R4846:Psg18	UTSW	7	18,084,711 (GRCm39)	nonsense	probably null
R4858:Psg18	UTSW	7	18,087,409 (GRCm39)	missense	possibly damaging	0.49
R5010:Psg18	UTSW	7	18,083,279 (GRCm39)	missense	probably damaging	1.00
R5225:Psg18	UTSW	7	18,079,874 (GRCm39)	missense	probably damaging	1.00
R5450:Psg18	UTSW	7	18,087,350 (GRCm39)	missense	probably benign	0.32
R5526:Psg18	UTSW	7	18,083,273 (GRCm39)	missense	probably damaging	1.00
R5840:Psg18	UTSW	7	18,080,527 (GRCm39)	intron	probably benign
R6409:Psg18	UTSW	7	18,087,446 (GRCm39)	missense	probably benign
R7164:Psg18	UTSW	7	18,084,862 (GRCm39)	missense	possibly damaging	0.89
R7276:Psg18	UTSW	7	18,079,909 (GRCm39)	missense	probably damaging	0.99
R7768:Psg18	UTSW	7	18,079,953 (GRCm39)	missense	probably damaging	1.00
R8301:Psg18	UTSW	7	18,087,302 (GRCm39)	missense	probably damaging	0.99
R8700:Psg18	UTSW	7	18,087,550 (GRCm39)	missense	probably damaging	1.00
R8982:Psg18	UTSW	7	18,083,300 (GRCm39)	missense	probably benign	0.20
R9042:Psg18	UTSW	7	18,083,047 (GRCm39)	missense	probably benign	0.44
R9054:Psg18	UTSW	7	18,087,450 (GRCm39)	missense	possibly damaging	0.82
R9442:Psg18	UTSW	7	18,083,185 (GRCm39)	nonsense	probably null
R9538:Psg18	UTSW	7	18,084,713 (GRCm39)	missense	probably benign	0.01
Z1176:Psg18	UTSW	7	18,088,712 (GRCm39)	missense	probably benign	0.07
Z1177:Psg18	UTSW	7	18,083,123 (GRCm39)	missense	probably benign	0.10
Z1177:Psg18	UTSW	7	18,083,040 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- TATCGAGTCAGAGTTCGTAGGG -3'
(R):5'- TAAACAGCTGCTCAGGACACAG -3'

Sequencing Primer
(F):5'- CAGAGTTCGTAGGGTGTAGAATCC -3'
(R):5'- ACACAGGGCGCCATCTTC -3'

Posted On

2022-10-06