Mutagenetix > Incidental Mutations

Incidental Mutation 'R8982:Psg18'

683776

Institutional Source

Beutler Lab

Gene Symbol

Psg18

Ensembl Gene

ENSMUSG00000003505

Gene Name

pregnancy specific glycoprotein 18

Synonyms

Cea-3, Cea3, mmCGM6

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R8982 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18345422-18355009 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18349375 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 285 (H285L)

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: H285L

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: H285L

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

possibly damaging
Transcript: ENSMUST00000098783
AA Change: H164L

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505
AA Change: H164L

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

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	A	G	1: 78,699,768	N493S	probably benign	Het
Actg2	T	C	6: 83,520,715	D185G	probably benign	Het
Alpk3	A	G	7: 81,099,002	N1439S	probably damaging	Het
Arid1b	T	A	17: 5,243,041	S745T	probably damaging	Het
Atxn2l	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	7: 126,494,248		probably benign	Het
BC030867	G	A	11: 102,255,284	A129T	probably benign	Het
C4b	A	G	17: 34,734,364		probably null	Het
Cenpc1	A	G	5: 86,047,674	S79P	probably damaging	Het
Cep295nl	A	T	11: 118,333,845	W58R	probably damaging	Het
Ces2f	T	A	8: 104,953,035	C387S	probably benign	Het
Cfap74	G	A	4: 155,436,730	E620K		Het
Ckap5	T	C	2: 91,607,578	V1668A	possibly damaging	Het
Clock	A	G	5: 76,216,712	V852A	unknown	Het
Col22a1	A	G	15: 71,973,638		probably null	Het
Copb2	T	C	9: 98,574,111	S233P	probably damaging	Het
Dnah3	T	C	7: 119,937,071	Y684C	probably damaging	Het
Dnah7a	T	C	1: 53,531,142	E1835G	probably benign	Het
F830045P16Rik	T	A	2: 129,472,892	Q155L	probably damaging	Het
Fhad1	T	C	4: 142,002,584	D36G	probably damaging	Het
Gm13089	T	G	4: 143,698,316	I186L	probably benign	Het
Hectd4	T	C	5: 121,328,242	V2412A	probably benign	Het
Hoxa13	T	A	6: 52,258,936	K210*	probably null	Het
Hoxc5	T	C	15: 103,015,308	Y179H	probably damaging	Het
Htr1d	A	T	4: 136,443,555	Q365L	possibly damaging	Het
Krt72	C	T	15: 101,781,624	V253M	possibly damaging	Het
Mecom	G	A	3: 29,963,106	T470I	probably damaging	Het
Nefh	G	A	11: 4,947,549	A129V	probably damaging	Het
Nlrp2	T	A	7: 5,324,979	I692F	probably damaging	Het
Nr6a1	T	A	2: 38,872,601	I61L	probably benign	Het
Olfr418	G	A	1: 173,270,739	C188Y	probably damaging	Het
Olfr433	T	G	1: 174,042,622	V224G	probably damaging	Het
Olfr73	A	T	2: 88,034,269	I290K	probably damaging	Het
Pck1	T	C	2: 173,157,319	V426A	probably damaging	Het
Pkhd1l1	T	A	15: 44,523,673	L1314*	probably null	Het
Pogz	G	A	3: 94,879,568	V1156M	probably damaging	Het
Prrc2b	T	A	2: 32,212,122	C736S	probably damaging	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,677		probably benign	Het
Ptprk	A	T	10: 28,560,142	D833V	probably damaging	Het
Rfx6	G	A	10: 51,723,819	V554M	probably benign	Het
Rimbp3	A	G	16: 17,209,647	T312A	probably benign	Het
Slfn5	G	A	11: 82,960,140	W421*	probably null	Het
Srcin1	A	G	11: 97,535,798	I291T	probably damaging	Het
Sult3a2	T	C	10: 33,782,073	N15D	probably damaging	Het
Tmem179	A	T	12: 112,501,867	L193Q	probably damaging	Het
Tmem200b	T	A	4: 131,922,357	L196Q	probably damaging	Het
Trim71	T	C	9: 114,513,736	T493A	possibly damaging	Het
Trp53bp2	T	A	1: 182,435,436		probably null	Het
Zbtb7c	G	A	18: 76,146,273	G601S	probably damaging	Het
Zdhhc3	A	G	9: 123,100,513	L19P	probably benign	Het
Zfp385b	G	T	2: 77,411,956	T473K	probably damaging	Het
Zfp651	A	G	9: 121,763,268	E218G	probably benign	Het
Zfp804a	A	G	2: 82,235,828	K48E	probably damaging	Het

Other mutations in Psg18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01458:Psg18	APN	7	18354816	start codon destroyed	probably null	0.99
IGL01748:Psg18	APN	7	18353551	missense	probably benign	0.05
IGL01767:Psg18	APN	7	18353397	missense	possibly damaging	0.80
IGL02727:Psg18	APN	7	18345950	missense	probably damaging	1.00
IGL02744:Psg18	APN	7	18349402	missense	probably benign	0.38
G1Funyon:Psg18	UTSW	7	18353377	missense	probably damaging	0.99
PIT4466001:Psg18	UTSW	7	18349316	missense	probably benign	0.30
R0331:Psg18	UTSW	7	18353308	missense	probably benign	0.03
R1077:Psg18	UTSW	7	18351075	missense	possibly damaging	0.84
R1171:Psg18	UTSW	7	18346079	missense	probably benign	0.10
R1173:Psg18	UTSW	7	18354817	start codon destroyed	probably null	0.97
R1234:Psg18	UTSW	7	18349190	missense	probably damaging	1.00
R1553:Psg18	UTSW	7	18353481	missense	probably benign	0.19
R1632:Psg18	UTSW	7	18350899	missense	probably benign	0.02
R2108:Psg18	UTSW	7	18350874	missense	probably damaging	1.00
R2439:Psg18	UTSW	7	18346119	missense	probably benign	0.24
R3032:Psg18	UTSW	7	18350979	missense	probably benign	0.01
R3053:Psg18	UTSW	7	18349193	missense	probably damaging	1.00
R3432:Psg18	UTSW	7	18349171	missense	possibly damaging	0.61
R3725:Psg18	UTSW	7	18354823	start gained	probably benign
R4479:Psg18	UTSW	7	18350862	missense	probably benign	0.01
R4480:Psg18	UTSW	7	18350862	missense	probably benign	0.01
R4846:Psg18	UTSW	7	18350786	nonsense	probably null
R4858:Psg18	UTSW	7	18353484	missense	possibly damaging	0.49
R5010:Psg18	UTSW	7	18349354	missense	probably damaging	1.00
R5225:Psg18	UTSW	7	18345949	missense	probably damaging	1.00
R5450:Psg18	UTSW	7	18353425	missense	probably benign	0.32
R5526:Psg18	UTSW	7	18349348	missense	probably damaging	1.00
R5840:Psg18	UTSW	7	18346602	intron	probably benign
R6409:Psg18	UTSW	7	18353521	missense	probably benign
R7164:Psg18	UTSW	7	18350937	missense	possibly damaging	0.89
R7276:Psg18	UTSW	7	18345984	missense	probably damaging	0.99
R7768:Psg18	UTSW	7	18346028	missense	probably damaging	1.00
R8301:Psg18	UTSW	7	18353377	missense	probably damaging	0.99
R8700:Psg18	UTSW	7	18353625	missense	probably damaging	1.00
R9042:Psg18	UTSW	7	18349122	missense	probably benign	0.44
R9054:Psg18	UTSW	7	18353525	missense	possibly damaging	0.82
R9442:Psg18	UTSW	7	18349260	nonsense	probably null
Z1176:Psg18	UTSW	7	18354787	missense	probably benign	0.07
Z1177:Psg18	UTSW	7	18349115	missense	probably benign	0.30
Z1177:Psg18	UTSW	7	18349198	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GGATCCGTTGGTGTACCCTATC -3'
(R):5'- ACTTCCTCCCGGTGAGATAGAC -3'

Sequencing Primer
(F):5'- GTTGGTGTACCCTATCTCTCTTCTG -3'
(R):5'- ATCCTGGTCTTATAGCACATGGGAC -3'

Posted On

2021-10-11