Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01993:Psg16'

182054

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psg16

Ensembl Gene

ENSMUSG00000066760

Gene Name

pregnancy specific glycoprotein 16

Synonyms

bCEA, Cea11

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01993

Quality Score

Status

Chromosome

Chromosomal Location

17074040-17133450 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17093706 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 196 (S196T)

Ref Sequence

ENSEMBL: ENSMUSP00000118977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071399] [ENSMUST00000118367] [ENSMUST00000152671]

AlphaFold

Q8K0U8

Predicted Effect

probably benign
Transcript: ENSMUST00000071399
AA Change: S105T

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000071348
Gene: ENSMUSG00000066760
AA Change: S105T

Domain	Start	End	E-Value	Type
IG_like	6	52	1.42e2	SMART
IG	71	172	1.21e-2	SMART
IG	191	292	2.56e-1	SMART
IG_like	302	395	5.13e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118367
AA Change: S105T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113025
Gene: ENSMUSG00000066760
AA Change: S105T

Domain	Start	End	E-Value	Type
IG_like	6	52	1.42e2	SMART
IG	71	172	1.21e-2	SMART
IG	191	292	2.56e-1	SMART
IGc2	308	372	3.56e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131153

Predicted Effect

probably benign
Transcript: ENSMUST00000152671
AA Change: S196T

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000118977
Gene: ENSMUSG00000066760
AA Change: S196T

Domain	Start	End	E-Value	Type
low complexity region	24	40	N/A	INTRINSIC
IG	46	143	4.29e-3	SMART
IG	162	261	2.94e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	A	11: 9,258,452		probably benign	Het
Acnat2	A	T	4: 49,380,131	S398T	probably benign	Het
Adgrb2	G	T	4: 130,018,842	E1296D	possibly damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Anapc2	C	A	2: 25,274,713	D322E	probably benign	Het
Apobec1	A	G	6: 122,588,179		probably benign	Het
Asic1	T	C	15: 99,697,472	V393A	probably benign	Het
Cfap65	A	C	1: 74,920,543	F816C	probably damaging	Het
Cfap69	A	C	5: 5,581,284	L914R	probably damaging	Het
Cspg4	C	T	9: 56,898,478	T2191I	probably benign	Het
Cyp11a1	T	A	9: 58,020,823	I210N	probably damaging	Het
Dgkb	T	A	12: 37,982,010	Y24N	probably benign	Het
Epc1	T	C	18: 6,449,136	T504A	possibly damaging	Het
Fam135a	A	T	1: 24,055,911	D125E	probably damaging	Het
Fam192a	G	T	8: 94,575,752	A217D	possibly damaging	Het
Fgd3	T	C	13: 49,280,188	H345R	possibly damaging	Het
Gm11492	G	T	11: 87,567,729	G310W	possibly damaging	Het
Gm12253	T	C	11: 58,434,553	V17A	probably damaging	Het
Hars	C	T	18: 36,770,212	G355D	probably damaging	Het
Hpgd	A	T	8: 56,319,062	I190F	probably benign	Het
Ighv1-34	A	T	12: 114,851,383	M53K	probably benign	Het
Ildr2	A	T	1: 166,269,370	T53S	possibly damaging	Het
Ints5	T	A	19: 8,895,465	C263S	probably benign	Het
Lars2	T	C	9: 123,394,943		probably benign	Het
Ldha	G	A	7: 46,855,100	A349T	possibly damaging	Het
Map3k2	T	A	18: 32,226,631	C512*	probably null	Het
Mb21d1	A	G	9: 78,442,520	S187P	probably benign	Het
Parp4	G	A	14: 56,610,788	R687Q	possibly damaging	Het
Plk2	T	C	13: 110,399,197	S518P	probably damaging	Het
Prrc2b	T	G	2: 32,224,045	V2036G	possibly damaging	Het
Ranbp17	T	C	11: 33,500,770	T56A	possibly damaging	Het
Retsat	T	C	6: 72,604,995		probably benign	Het
Robo3	G	T	9: 37,424,653	L484I	probably damaging	Het
Slc17a6	T	C	7: 51,667,957	M446T	possibly damaging	Het
Slc38a1	G	A	15: 96,624,046	T11M	probably damaging	Het
Tmem138	T	C	19: 10,571,588	N106S	probably benign	Het
Traf1	G	A	2: 34,946,867		probably benign	Het
Tspan8	T	C	10: 115,840,008		probably benign	Het
Ubr5	T	C	15: 37,973,012	E2615G	probably damaging	Het
Vwde	A	G	6: 13,219,978	I58T	possibly damaging	Het
Zc3h12c	A	G	9: 52,116,311	S603P	probably damaging	Het
Zfp746	A	T	6: 48,082,158	S172R	probably damaging	Het

Other mutations in Psg16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02258:Psg16	APN	7	17095292	missense	probably damaging	1.00
R0379:Psg16	UTSW	7	17130658	missense	probably benign	0.09
R0389:Psg16	UTSW	7	17095163	missense	probably benign
R0443:Psg16	UTSW	7	17095163	missense	probably benign
R1231:Psg16	UTSW	7	17095305	nonsense	probably null
R1594:Psg16	UTSW	7	17093823	missense	probably damaging	1.00
R2064:Psg16	UTSW	7	17093748	missense	possibly damaging	0.91
R2118:Psg16	UTSW	7	17090623	missense	probably benign	0.33
R3806:Psg16	UTSW	7	17090684	missense	probably benign	0.24
R4397:Psg16	UTSW	7	17090698	missense	possibly damaging	0.68
R4583:Psg16	UTSW	7	17095172	missense	probably benign	0.01
R4685:Psg16	UTSW	7	17090534	missense	probably benign	0.00
R4929:Psg16	UTSW	7	17095106	missense	possibly damaging	0.79
R5310:Psg16	UTSW	7	17090635	missense	probably damaging	0.99
R6106:Psg16	UTSW	7	17095166	missense	possibly damaging	0.73
R6320:Psg16	UTSW	7	17088187	missense	probably damaging	1.00
R6702:Psg16	UTSW	7	17090396	missense	probably damaging	1.00
R6703:Psg16	UTSW	7	17090396	missense	probably damaging	1.00
R7329:Psg16	UTSW	7	17090686	missense	possibly damaging	0.86
R7679:Psg16	UTSW	7	17093760	missense	probably damaging	1.00
R8292:Psg16	UTSW	7	17093776	missense	probably damaging	0.99
R8372:Psg16	UTSW	7	17095315	missense	probably benign	0.10
R8491:Psg16	UTSW	7	17090512	missense	probably damaging	1.00
R8796:Psg16	UTSW	7	17093889	missense	possibly damaging	0.90
R9131:Psg16	UTSW	7	17098099	missense	probably benign	0.00
R9437:Psg16	UTSW	7	17093790	missense	probably damaging	1.00
R9659:Psg16	UTSW	7	17090599	missense	possibly damaging	0.55
R9746:Psg16	UTSW	7	17098161	missense	probably benign	0.02
R9788:Psg16	UTSW	7	17090599	missense	possibly damaging	0.55

Posted On

2014-05-07