Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00885:Psg17'

27738

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psg17

Ensembl Gene

ENSMUSG00000004540

Gene Name

pregnancy specific beta-1-glycoprotein 17

Synonyms

mmCGM5, Cea2, Cea-2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00885

Quality Score

Status

Chromosome

Chromosomal Location

18547862-18555516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18554091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 53 (L53Q)

Ref Sequence

ENSEMBL: ENSMUSP00000004655 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004655]

AlphaFold

Q62056

Predicted Effect

probably damaging
Transcript: ENSMUST00000004655
AA Change: L53Q

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

SMART Domains

Protein: ENSMUSP00000004655
Gene: ENSMUSG00000004540
AA Change: L53Q

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
IG	40	141	1.84e-2	SMART
IG	160	261	3.63e0	SMART
IG	280	381	2.03e-4	SMART
IGc2	397	461	2.35e-9	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	A	T	17: 43,025,206 (GRCm39)		probably benign	Het
Adora2a	T	G	10: 75,169,285 (GRCm39)	F250V	probably damaging	Het
Atp8b5	T	C	4: 43,355,567 (GRCm39)	S516P	probably damaging	Het
Btbd16	A	G	7: 130,390,552 (GRCm39)	I150V	probably damaging	Het
Capn13	A	T	17: 73,646,420 (GRCm39)	I331N	possibly damaging	Het
Capzb	A	G	4: 139,014,361 (GRCm39)	S233G	probably benign	Het
Clasp2	A	G	9: 113,740,484 (GRCm39)	R1171G	probably damaging	Het
Col16a1	T	G	4: 129,990,703 (GRCm39)	I1419S	probably damaging	Het
Coro7	T	A	16: 4,452,890 (GRCm39)	Y286F	probably benign	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Cyp11b2	T	C	15: 74,725,364 (GRCm39)	T252A	probably benign	Het
Daam1	T	A	12: 71,990,865 (GRCm39)	C160S	unknown	Het
Ephx4	T	C	5: 107,553,991 (GRCm39)		probably benign	Het
Fbxo47	A	T	11: 97,768,946 (GRCm39)	D63E	probably benign	Het
Fgf3	A	T	7: 144,394,521 (GRCm39)		probably benign	Het
Fstl4	C	T	11: 53,039,809 (GRCm39)	T331I	possibly damaging	Het
Gpr158	T	C	2: 21,653,832 (GRCm39)	F467S	probably damaging	Het
Igfbpl1	C	T	4: 45,826,478 (GRCm39)	V106I	probably damaging	Het
Ikzf2	T	C	1: 69,578,481 (GRCm39)	T271A	possibly damaging	Het
Kat14	T	A	2: 144,236,175 (GRCm39)	N302K	probably benign	Het
Kmt2c	G	T	5: 25,614,169 (GRCm39)	Q184K	possibly damaging	Het
Moxd2	A	G	6: 40,861,113 (GRCm39)		probably benign	Het
Nbeal2	C	A	9: 110,467,729 (GRCm39)	E479D	probably damaging	Het
Neo1	A	G	9: 58,795,746 (GRCm39)	L1231P	probably damaging	Het
Nfatc3	C	T	8: 106,825,809 (GRCm39)	P620L	probably damaging	Het
Nol9	T	C	4: 152,126,057 (GRCm39)	F253L	probably damaging	Het
Nutm2	T	A	13: 50,628,896 (GRCm39)	S653R	probably benign	Het
Or2n1e	A	C	17: 38,585,790 (GRCm39)	I43L	probably benign	Het
Or9i16	A	T	19: 13,865,532 (GRCm39)	M14K	probably benign	Het
Plcg1	A	G	2: 160,600,003 (GRCm39)	D921G	probably benign	Het
Plpp4	A	T	7: 128,923,257 (GRCm39)	I101F	probably damaging	Het
Ptpn4	A	T	1: 119,730,093 (GRCm39)	I20N	possibly damaging	Het
R3hdm1	A	T	1: 128,164,175 (GRCm39)	I1030L	probably damaging	Het
Rpl7	A	C	1: 16,172,807 (GRCm39)	S171A	possibly damaging	Het
Snx25	G	A	8: 46,491,513 (GRCm39)	T859M	probably damaging	Het
Spata31e5	T	C	1: 28,815,926 (GRCm39)	E702G	unknown	Het
Tmem94	A	G	11: 115,686,154 (GRCm39)	M990V	probably damaging	Het
Tnnt2	A	G	1: 135,774,502 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,540,029 (GRCm39)	H34319R	possibly damaging	Het
Vmn1r72	A	G	7: 11,404,424 (GRCm39)	V8A	probably benign	Het
Zbtb41	A	G	1: 139,358,062 (GRCm39)	T457A	probably benign	Het

Other mutations in Psg17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01649:Psg17	APN	7	18,550,727 (GRCm39)	missense	possibly damaging	0.60
IGL02171:Psg17	APN	7	18,552,712 (GRCm39)	missense	probably damaging	0.98
PIT4151001:Psg17	UTSW	7	18,548,530 (GRCm39)	missense	probably benign	0.26
R1178:Psg17	UTSW	7	18,548,380 (GRCm39)	missense	probably benign	0.13
R1767:Psg17	UTSW	7	18,550,727 (GRCm39)	missense	possibly damaging	0.60
R1991:Psg17	UTSW	7	18,548,577 (GRCm39)	missense	probably benign	0.02
R4428:Psg17	UTSW	7	18,550,717 (GRCm39)	missense	probably benign	0.31
R5285:Psg17	UTSW	7	18,554,126 (GRCm39)	missense	probably benign	0.01
R5507:Psg17	UTSW	7	18,553,851 (GRCm39)	missense	probably benign	0.04
R5516:Psg17	UTSW	7	18,548,458 (GRCm39)	missense	probably benign	0.30
R5837:Psg17	UTSW	7	18,554,140 (GRCm39)	missense	possibly damaging	0.58
R6481:Psg17	UTSW	7	18,548,375 (GRCm39)	missense	probably damaging	1.00
R6817:Psg17	UTSW	7	18,548,565 (GRCm39)	missense	probably damaging	1.00
R7124:Psg17	UTSW	7	18,548,422 (GRCm39)	missense	probably damaging	1.00
R7124:Psg17	UTSW	7	18,548,421 (GRCm39)	missense	probably damaging	1.00
R7243:Psg17	UTSW	7	18,552,640 (GRCm39)	missense	probably damaging	1.00
R7268:Psg17	UTSW	7	18,548,586 (GRCm39)	missense	possibly damaging	0.64
R7384:Psg17	UTSW	7	18,552,585 (GRCm39)	missense	possibly damaging	0.67
R7544:Psg17	UTSW	7	18,553,897 (GRCm39)	missense	probably benign	0.25
R7555:Psg17	UTSW	7	18,551,019 (GRCm39)	missense	probably benign	0.03
R7634:Psg17	UTSW	7	18,548,416 (GRCm39)	missense	probably damaging	1.00
R8716:Psg17	UTSW	7	18,555,310 (GRCm39)	missense	probably benign	0.30
R8755:Psg17	UTSW	7	18,550,836 (GRCm39)	missense	possibly damaging	0.64
R9105:Psg17	UTSW	7	18,555,333 (GRCm39)	missense	probably benign	0.04
R9145:Psg17	UTSW	7	18,553,851 (GRCm39)	missense	probably benign	0.01
R9296:Psg17	UTSW	7	18,553,991 (GRCm39)	missense	probably benign	0.10
Z1088:Psg17	UTSW	7	18,550,835 (GRCm39)	missense	probably benign	0.03

Posted On

2013-04-17