Mutagenetix > Incidental Mutation

Incidental Mutation 'R5529:Psg28'

433578

Institutional Source

Beutler Lab

Gene Symbol

Psg28

Ensembl Gene

ENSMUSG00000030373

Gene Name

pregnancy-specific glycoprotein 28

Synonyms

MMRRC Submission

043087-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R5529 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18422536-18432041 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18430448 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 113 (T113I)

Ref Sequence

ENSEMBL: ENSMUSP00000019291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019291]

AlphaFold

Q4KL66

Predicted Effect

probably benign
Transcript: ENSMUST00000019291
AA Change: T113I

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000019291
Gene: ENSMUSG00000030373
AA Change: T113I

Domain	Start	End	E-Value	Type
IG	40	138	1.84e-2	SMART
IG	157	258	1.67e0	SMART
IG	277	376	1.65e-4	SMART
IGc2	394	458	8.31e-10	SMART

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 95.7%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,264,881	Y2079C	probably damaging	Het
Alg2	T	C	4: 47,472,101	R236G	probably damaging	Het
Alpl	T	A	4: 137,746,422	N323I	probably damaging	Het
Anxa3	A	G	5: 96,828,379	E172G	probably benign	Het
Atp8a2	A	G	14: 59,793,865		probably null	Het
Cadps	T	C	14: 12,454,285	K1078E	probably damaging	Het
Ces2e	G	T	8: 104,929,911	V258L	probably benign	Het
Daam2	A	G	17: 49,459,057	F1041S	probably benign	Het
Dcstamp	A	G	15: 39,754,536	I114V	probably benign	Het
Ddhd2	C	T	8: 25,739,560	R496Q	probably benign	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Eml6	T	A	11: 29,764,126	R1335S	probably benign	Het
F12	T	C	13: 55,422,059	N102S	probably benign	Het
Fbn1	G	A	2: 125,373,950	L712F	probably benign	Het
Fgf1	G	T	18: 38,858,604	F37L	probably damaging	Het
Fgf14	T	A	14: 123,980,455	H212L	probably damaging	Het
Gm10036	A	T	18: 15,832,801	Q3L	probably benign	Het
Hivep1	T	C	13: 42,156,650	F789L	possibly damaging	Het
Hspg2	C	A	4: 137,551,828	T3074N	probably damaging	Het
Katnb1	C	T	8: 95,097,672	R495C	probably damaging	Het
Kdm5b	C	T	1: 134,588,003	H122Y	probably damaging	Het
Ky	C	T	9: 102,542,075	S427L	probably benign	Het
Med9	T	G	11: 59,960,660	V105G	probably benign	Het
Ndufa11	T	A	17: 56,721,059	V43D	probably damaging	Het
Nlrp4b	T	A	7: 10,714,946	C359S	possibly damaging	Het
Olfr361	T	A	2: 37,084,909	I280F	possibly damaging	Het
Olfr558	A	T	7: 102,709,693	K145*	probably null	Het
Paxbp1	T	A	16: 91,030,513	Y478F	possibly damaging	Het
Pole	G	A	5: 110,332,466	E92K	probably benign	Het
Prom1	G	T	5: 44,026,768	L449M	probably damaging	Het
Reln	A	C	5: 21,932,715	V2493G	possibly damaging	Het
Rp1	C	T	1: 4,345,832	V1686I	probably benign	Het
Setbp1	T	C	18: 79,086,652	I122V	probably damaging	Het
Setd5	T	C	6: 113,121,568	Y721H	probably damaging	Het
Shroom1	T	C	11: 53,463,922	F223S	probably damaging	Het
Son	T	A	16: 91,655,466	L367Q	probably damaging	Het
Spred2	G	T	11: 20,021,301	D363Y	probably damaging	Het
Tbc1d8	T	G	1: 39,372,755	Y1000S	probably benign	Het
Tdp2	A	T	13: 24,838,236	K213*	probably null	Het
Tmem89	T	C	9: 108,915,477	I146T	probably damaging	Het
Vhl	T	C	6: 113,629,463	V147A	probably benign	Het
Vmn2r23	C	T	6: 123,713,451	L429F	probably benign	Het
Vrk2	T	C	11: 26,499,036	D186G	probably damaging	Het
Wisp2	T	C	2: 163,825,359		probably null	Het
Zbtb40	A	G	4: 136,983,163	F1222L	possibly damaging	Het
Zfp266	A	G	9: 20,506,734	S7P	probably damaging	Het
Zfp472	T	A	17: 32,978,433	I494K	possibly damaging	Het
Zfp655	A	G	5: 145,244,736	E468G	probably damaging	Het

Other mutations in Psg28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Psg28	APN	7	18427891	missense	probably damaging	1.00
IGL01118:Psg28	APN	7	18428092	missense	probably damaging	1.00
IGL01606:Psg28	APN	7	18430371	missense	probably benign	0.01
R0276:Psg28	UTSW	7	18430396	missense	probably benign	0.00
R0391:Psg28	UTSW	7	18426173	missense	probably benign	0.02
R0713:Psg28	UTSW	7	18423074	missense	possibly damaging	0.61
R1454:Psg28	UTSW	7	18427964	missense	possibly damaging	0.50
R1725:Psg28	UTSW	7	18428011	missense	possibly damaging	0.67
R2176:Psg28	UTSW	7	18427879	missense	probably damaging	1.00
R3154:Psg28	UTSW	7	18426423	missense	possibly damaging	0.91
R4520:Psg28	UTSW	7	18422901	missense	probably benign	0.00
R5010:Psg28	UTSW	7	18427891	missense	probably damaging	1.00
R5772:Psg28	UTSW	7	18430715	missense	probably damaging	1.00
R6039:Psg28	UTSW	7	18426182	missense	possibly damaging	0.82
R6039:Psg28	UTSW	7	18426182	missense	possibly damaging	0.82
R6046:Psg28	UTSW	7	18426380	missense	probably damaging	1.00
R6275:Psg28	UTSW	7	18430440	missense	probably damaging	1.00
R6586:Psg28	UTSW	7	18430544	missense	probably damaging	0.99
R6928:Psg28	UTSW	7	18423078	missense	possibly damaging	0.80
R7197:Psg28	UTSW	7	18430584	missense	probably damaging	1.00
R7237:Psg28	UTSW	7	18427844	missense	possibly damaging	0.65
R7859:Psg28	UTSW	7	18426224	missense	probably damaging	1.00
R7863:Psg28	UTSW	7	18428117	missense	possibly damaging	0.62
R7993:Psg28	UTSW	7	18426476	missense	possibly damaging	0.63
R8009:Psg28	UTSW	7	18422997	missense	probably damaging	0.96
R8115:Psg28	UTSW	7	18430386	missense	probably benign	0.15
R8247:Psg28	UTSW	7	18422939	missense	probably benign	0.01
R8984:Psg28	UTSW	7	18423056	missense	probably damaging	0.97
R9160:Psg28	UTSW	7	18430715	missense	probably damaging	1.00
R9266:Psg28	UTSW	7	18427827	missense	probably benign	0.01
R9336:Psg28	UTSW	7	18422980	missense	possibly damaging	0.67
RF016:Psg28	UTSW	7	18422922	missense	probably damaging	0.97
X0020:Psg28	UTSW	7	18427939	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ATGCTCAGTCCCCAACATG -3'
(R):5'- GAATCCTTTCCACCCCAAGTG -3'

Sequencing Primer
(F):5'- GCTCAGTCCCCAACATGGAGAC -3'
(R):5'- CTACGTGTTGACAATATGCCAGAG -3'

Posted On

2016-10-06