Mutagenetix > Incidental Mutation

Incidental Mutation 'R2118:Psg16'

231192

Institutional Source

Beutler Lab

Gene Symbol

Psg16

Ensembl Gene

ENSMUSG00000066760

Gene Name

pregnancy specific glycoprotein 16

Synonyms

bCEA, Cea11

MMRRC Submission

040122-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2118 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17074040-17133450 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 17090623 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 111 (H111N)

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: H20N

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000071348
Gene: ENSMUSG00000066760
AA Change: H20N

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: H20N

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113025
Gene: ENSMUSG00000066760
AA Change: H20N

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: H111N

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118977
Gene: ENSMUSG00000066760
AA Change: H111N

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (90/90)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	C	11: 83,440,364	S31P	possibly damaging	Het
4933430I17Rik	T	A	4: 62,538,872	L143M	possibly damaging	Het
Abca13	T	C	11: 9,309,013		probably benign	Het
Abcg5	T	A	17: 84,671,147	E294D	probably benign	Het
Abi3bp	T	C	16: 56,477,864		probably benign	Het
Adamts8	T	C	9: 30,943,063	F76S	probably damaging	Het
Agpat3	T	C	10: 78,278,084	R257G	probably damaging	Het
Ahctf1	C	A	1: 179,769,452	R43L	probably damaging	Het
AI593442	T	C	9: 52,677,693	T195A	probably benign	Het
Aipl1	A	T	11: 72,029,369	L291Q	possibly damaging	Het
Ambn	T	A	5: 88,460,758		probably benign	Het
Arap2	G	A	5: 62,706,685	T532I	probably damaging	Het
Arg1	T	C	10: 24,920,723	N69D	possibly damaging	Het
Arhgef10	A	G	8: 14,934,820	D200G	probably damaging	Het
Arhgef38	T	C	3: 133,160,753	K208E	probably benign	Het
Asb4	A	T	6: 5,390,687	T27S	probably benign	Het
Ash1l	C	G	3: 88,985,295	Q1494E	possibly damaging	Het
Car12	T	C	9: 66,713,892	V15A	probably benign	Het
Cdc20b	A	G	13: 113,078,698	I267V	probably benign	Het
Cdh1	A	G	8: 106,664,210	I653V	probably benign	Het
Cenpe	T	A	3: 135,246,884	M1445K	possibly damaging	Het
Cfap43	T	C	19: 47,770,438	E932G	probably damaging	Het
Cfhr1	G	C	1: 139,550,904	Q243E	probably benign	Het
Cnih2	C	A	19: 5,098,248	A6S	possibly damaging	Het
Cntnap1	G	T	11: 101,188,657	M1240I	probably benign	Het
Cntrl	T	C	2: 35,161,965	S1050P	probably benign	Het
Cyp2a12	A	G	7: 27,036,646	*493W	probably null	Het
Dbx2	A	C	15: 95,624,800	L342R	probably damaging	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dnajb2	T	C	1: 75,237,477	W30R	probably damaging	Het
Ecel1	A	G	1: 87,148,275	S727P	probably damaging	Het
Ednrb	T	A	14: 103,821,768	D274V	probably benign	Het
Fam78b	G	A	1: 167,078,709	V146M	probably damaging	Het
Fancd2	A	G	6: 113,560,074		probably benign	Het
Fbxw14	T	C	9: 109,274,624		probably benign	Het
Gimap4	G	T	6: 48,690,971	C92F	probably benign	Het
Gm5828	A	G	1: 16,769,975		noncoding transcript	Het
Gnpat	T	C	8: 124,876,941	V186A	probably damaging	Het
Gnptab	T	C	10: 88,436,398	S967P	probably benign	Het
Ikbkb	T	C	8: 22,667,217		probably benign	Het
Il1rap	A	T	16: 26,710,565	H379L	probably damaging	Het
Ints12	T	C	3: 133,109,160	V376A	probably damaging	Het
Kalrn	C	T	16: 34,332,230	S309N	possibly damaging	Het
Kel	T	A	6: 41,689,300	I471L	probably benign	Het
Klhl25	T	C	7: 75,866,732	V462A	probably damaging	Het
Ksr1	A	T	11: 79,045,193	M77K	probably benign	Het
Leo1	T	A	9: 75,445,812	N212K	probably damaging	Het
Ltbp1	T	A	17: 75,310,159	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,309,477	S249P	probably benign	Het
Mast4	A	G	13: 102,754,205	V855A	probably damaging	Het
Mdga2	T	A	12: 66,868,752	E43V	probably damaging	Het
Mmaa	A	T	8: 79,267,959	L406*	probably null	Het
Nlrp12	A	T	7: 3,241,449	N144K	probably damaging	Het
Nlrp6	T	C	7: 140,926,444	V766A	probably benign	Het
Olfr1314	C	A	2: 112,092,330	V124L	probably benign	Het
Olfr186	A	G	16: 59,027,815	F31L	possibly damaging	Het
Pabpc4l	T	C	3: 46,446,841	T123A	probably benign	Het
Pappa2	T	C	1: 158,857,266	T768A	probably damaging	Het
Pde6d	A	G	1: 86,545,802	F91L	probably benign	Het
Ppp1r13l	A	G	7: 19,371,421	M373V	possibly damaging	Het
Prss37	G	A	6: 40,515,360	R186*	probably null	Het
Psg20	T	A	7: 18,681,022	Y316F	probably benign	Het
Psmd1	T	A	1: 86,078,700	S263T	possibly damaging	Het
Rai14	A	G	15: 10,575,166	F569L	probably benign	Het
Rbpms2	T	A	9: 65,650,947	D116E	probably damaging	Het
Rgs20	A	G	1: 4,916,890		probably benign	Het
Rnf114	T	C	2: 167,510,883	L101P	probably damaging	Het
Rnf168	T	G	16: 32,278,218	L37R	probably damaging	Het
RP23-114B10.6	A	C	8: 69,372,290		noncoding transcript	Het
Rpe	T	C	1: 66,715,228	M153T	probably damaging	Het
Sap18	T	A	14: 57,798,554	S66T	probably damaging	Het
Slc2a13	A	G	15: 91,516,476	V181A	probably damaging	Het
Soga1	T	C	2: 157,033,325	E835G	probably damaging	Het
Spag17	A	G	3: 100,049,240	E884G	possibly damaging	Het
Sycn	T	C	7: 28,541,288	S127P	probably damaging	Het
Tas2r106	A	T	6: 131,678,354	L178H	probably damaging	Het
Tas2r117	T	A	6: 132,803,166	I89K	probably damaging	Het
Tep1	C	A	14: 50,855,572		probably null	Het
Tex14	T	C	11: 87,519,743		probably benign	Het
Tll1	T	C	8: 64,085,557	E351G	probably benign	Het
Tmem44	T	A	16: 30,547,444	K55*	probably null	Het
Trak1	T	A	9: 121,472,997	*940R	probably null	Het
Vmn1r200	C	T	13: 22,395,183	T43I	probably damaging	Het
Wars2	T	C	3: 99,216,567	V248A	probably benign	Het
Wfdc6b	C	T	2: 164,617,443	R142C	probably benign	Het
Zfp729a	A	T	13: 67,621,494		probably null	Het
Zfp759	C	A	13: 67,139,514		probably benign	Het

Other mutations in Psg16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01993:Psg16	APN	7	17093706	missense	probably benign	0.08
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
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

Predicted Primers

PCR Primer
(F):5'- GGTCACCATTGAATCAGTGCC -3'
(R):5'- ACATCCAGCTGACTGCAAGG -3'

Sequencing Primer
(F):5'- AATCAGTGCCTTTCAATGTGG -3'
(R):5'- TCCAGCTGACTGCAAGGTAAAGTC -3'

Posted On

2014-09-18