Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02171:Psg17'

283539

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 #

IGL02171

Quality Score

Status

Chromosome

Chromosomal Location

18547862-18555516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18552712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 188 (Y188H)

Ref Sequence

ENSEMBL: ENSMUSP00000004655 (fasta)

Gene Model

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

AlphaFold

Q62056

Predicted Effect

probably damaging
Transcript: ENSMUST00000004655
AA Change: Y188H

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000004655
Gene: ENSMUSG00000004540
AA Change: Y188H

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,921,237 (GRCm39)	I772M	probably benign	Het
Abcg4	C	A	9: 44,186,306 (GRCm39)		probably benign	Het
Abo	A	G	2: 26,738,969 (GRCm39)	I18T	probably benign	Het
AI661453	C	T	17: 47,777,921 (GRCm39)		probably benign	Het
Apbb1	A	G	7: 105,208,333 (GRCm39)		probably benign	Het
Atp8a1	G	A	5: 67,895,808 (GRCm39)	S557L	probably damaging	Het
Bora	G	T	14: 99,284,758 (GRCm39)	D3Y	probably damaging	Het
Cfap46	T	C	7: 139,246,972 (GRCm39)	D323G	possibly damaging	Het
Dcdc2a	T	A	13: 25,240,417 (GRCm39)	V55E	probably damaging	Het
Dync1i1	G	T	6: 5,969,498 (GRCm39)	R441L	probably damaging	Het
Ecd	T	A	14: 20,370,895 (GRCm39)	Y608F	probably damaging	Het
Eif4g3	A	G	4: 137,853,900 (GRCm39)	T489A	probably benign	Het
Erlin1	A	G	19: 44,037,555 (GRCm39)		probably benign	Het
Fras1	A	G	5: 96,883,040 (GRCm39)	E2524G	probably benign	Het
Garem1	C	T	18: 21,262,298 (GRCm39)	D839N	probably damaging	Het
Gdap1l1	T	A	2: 163,289,470 (GRCm39)	V145E	possibly damaging	Het
Gvin3	G	T	7: 106,200,548 (GRCm39)		noncoding transcript	Het
Hydin	A	T	8: 111,178,590 (GRCm39)	K1062*	probably null	Het
Igkv4-92	T	C	6: 68,732,573 (GRCm39)	D2G	probably benign	Het
Lemd3	T	A	10: 120,769,527 (GRCm39)		probably benign	Het
Mbl1	C	T	14: 40,876,455 (GRCm39)		probably benign	Het
Mdh1	T	C	11: 21,507,438 (GRCm39)		probably benign	Het
Mms19	A	G	19: 41,945,578 (GRCm39)		probably null	Het
Nrxn3	C	A	12: 89,159,933 (GRCm39)	P20T	probably damaging	Het
Nudt1	A	G	5: 140,323,348 (GRCm39)	E100G	probably damaging	Het
Or2y1e	T	A	11: 49,218,862 (GRCm39)	F208Y	possibly damaging	Het
Or9g4	T	A	2: 85,505,285 (GRCm39)	D70V	probably damaging	Het
Palb2	A	C	7: 121,706,809 (GRCm39)	S1083A	probably damaging	Het
Phc2	T	G	4: 128,604,858 (GRCm39)	F198C	probably damaging	Het
Pkhd1l1	A	G	15: 44,379,542 (GRCm39)	D1056G	possibly damaging	Het
Scn1a	T	A	2: 66,103,543 (GRCm39)	I1906F	probably damaging	Het
Sidt2	C	A	9: 45,864,068 (GRCm39)	R150L	possibly damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Supt3	T	C	17: 45,314,043 (GRCm39)	I144T	probably damaging	Het
Trip4	A	G	9: 65,788,332 (GRCm39)	S38P	probably damaging	Het
Vmn1r173	G	T	7: 23,402,321 (GRCm39)	M185I	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Wdr72	A	T	9: 74,117,816 (GRCm39)	M843L	possibly damaging	Het
Zfp595	T	A	13: 67,464,719 (GRCm39)	N518Y	possibly damaging	Het

Other mutations in Psg17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Psg17	APN	7	18,554,091 (GRCm39)	missense	probably damaging	1.00
IGL01649:Psg17	APN	7	18,550,727 (GRCm39)	missense	possibly damaging	0.60
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

2015-04-16