Mutagenetix > Incidental Mutation

Incidental Mutation 'R1178:Psg17'

100138

Institutional Source

Beutler Lab

Gene Symbol

Psg17

Ensembl Gene

ENSMUSG00000004540

Gene Name

pregnancy specific beta-1-glycoprotein 17

Synonyms

mmCGM5, Cea2, Cea-2

MMRRC Submission

039250-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1178 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18547862-18555516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18548380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 464 (T464A)

Ref Sequence

ENSEMBL: ENSMUSP00000004655 (fasta)

Gene Model

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

AlphaFold

Q62056

Predicted Effect

probably benign
Transcript: ENSMUST00000004655
AA Change: T464A

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000004655
Gene: ENSMUSG00000004540
AA Change: T464A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	T	13: 81,588,156 (GRCm39)		probably benign	Het
Apcdd1	A	T	18: 63,070,168 (GRCm39)	Y145F	probably damaging	Het
Brinp1	C	T	4: 68,680,790 (GRCm39)	G580E	probably damaging	Het
Cep128	G	A	12: 91,226,929 (GRCm39)	T227M	probably damaging	Het
Cxcr2	A	T	1: 74,197,527 (GRCm39)	D7V	probably benign	Het
Dync2h1	C	T	9: 7,101,193 (GRCm39)		probably benign	Het
Eps8	T	C	6: 137,499,852 (GRCm39)	Q209R	possibly damaging	Het
Gabrg3	C	T	7: 56,384,839 (GRCm39)	V241I	probably benign	Het
Gfpt2	T	C	11: 49,714,136 (GRCm39)	S298P	probably benign	Het
Gm6797	T	A	X: 8,508,004 (GRCm39)		noncoding transcript	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Heatr5b	A	G	17: 79,120,698 (GRCm39)	L742P	probably damaging	Het
Hgd	A	G	16: 37,435,756 (GRCm39)	I115V	possibly damaging	Het
Hmgcll1	A	T	9: 76,037,613 (GRCm39)	D169V	probably damaging	Het
Ifi202b	A	T	1: 173,799,788 (GRCm39)	I231K	probably benign	Het
Itpripl1	A	G	2: 126,983,819 (GRCm39)	I101T	probably benign	Het
Kcnj9	A	G	1: 172,150,530 (GRCm39)	V361A	probably benign	Het
Map4k5	G	A	12: 69,863,152 (GRCm39)	T567M	probably damaging	Het
Ncapd3	A	G	9: 26,952,717 (GRCm39)	D82G	probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Or8d2b	A	G	9: 38,789,051 (GRCm39)	E193G	probably damaging	Het
Or8g50	A	G	9: 39,648,642 (GRCm39)	Y177C	probably damaging	Het
Pfn2	C	T	3: 57,752,766 (GRCm39)	V3I	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Pkhd1	C	T	1: 20,655,381 (GRCm39)		probably null	Het
Plekha2	A	C	8: 25,549,218 (GRCm39)	S189A	probably benign	Het
Prune2	T	C	19: 17,100,469 (GRCm39)	V1991A	probably benign	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rab8b	A	G	9: 66,760,249 (GRCm39)	M125T	possibly damaging	Het
Rbl1	T	A	2: 156,989,575 (GRCm39)	M1015L	possibly damaging	Het
Ryr3	T	A	2: 112,794,725 (GRCm39)	Q149L	probably benign	Het
Scn2a	C	A	2: 65,517,123 (GRCm39)		probably benign	Het
Sec61g	A	C	11: 16,454,722 (GRCm39)		probably benign	Het
Smcr8	G	A	11: 60,670,358 (GRCm39)	R502H	probably damaging	Het
Spag16	G	A	1: 69,962,817 (GRCm39)		probably benign	Het
Spink13	A	G	18: 62,741,241 (GRCm39)		probably benign	Het
Stk25	T	C	1: 93,551,111 (GRCm39)		probably benign	Het
Syngap1	A	G	17: 27,176,779 (GRCm39)	N314D	probably damaging	Het
Tek	T	C	4: 94,692,524 (GRCm39)	C160R	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tll2	T	G	19: 41,081,286 (GRCm39)	D712A	probably damaging	Het
Tmprss13	A	T	9: 45,239,945 (GRCm39)	R84S	unknown	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ubr1	T	A	2: 120,756,510 (GRCm39)	K706*	probably null	Het
Upk2	A	T	9: 44,365,470 (GRCm39)	S33T	probably benign	Het
Usp47	T	G	7: 111,709,205 (GRCm39)	M1317R	possibly damaging	Het
Wdr19	T	C	5: 65,381,208 (GRCm39)	Y411H	probably damaging	Het
Zfp143	C	T	7: 109,674,928 (GRCm39)		probably benign	Het
Zfp473	T	C	7: 44,384,018 (GRCm39)	D105G	probably benign	Het
Zfp474	C	T	18: 52,771,814 (GRCm39)	Q156*	probably null	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
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
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

Predicted Primers

Posted On

2014-01-15