Mutagenetix > Incidental Mutation

Incidental Mutation 'R0443:Psg16'

39275

Institutional Source

Beutler Lab

Gene Symbol

Psg16

Ensembl Gene

ENSMUSG00000066760

Gene Name

pregnancy specific beta-1-glycoprotein 16

Synonyms

bCEA, Cea11

MMRRC Submission

038644-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0443 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16807965-16867375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16829088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 224 (I224N)

Ref Sequence

ENSEMBL: ENSMUSP00000113025 (fasta)

Gene Model

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

AlphaFold

Q8K0U8

Predicted Effect

probably benign
Transcript: ENSMUST00000071399
AA Change: I224N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071348
Gene: ENSMUSG00000066760
AA Change: I224N

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: I224N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113025
Gene: ENSMUSG00000066760
AA Change: I224N

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

SMART Domains

Protein: ENSMUSP00000118977
Gene: ENSMUSG00000066760

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: 99.3%
3x: 98.8%
10x: 97.3%
20x: 95.6%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3b	G	T	5: 26,053,409 (GRCm39)	R246L	probably damaging	Het
Adam18	T	C	8: 25,119,653 (GRCm39)		probably null	Het
Ankhd1	A	G	18: 36,777,652 (GRCm39)	S1612G	possibly damaging	Het
Caskin1	C	T	17: 24,724,374 (GRCm39)	A1054V	probably damaging	Het
Casz1	T	C	4: 149,033,368 (GRCm39)	V1380A	possibly damaging	Het
Ccn2	T	C	10: 24,471,701 (GRCm39)		probably benign	Het
Cnot6l	T	G	5: 96,239,604 (GRCm39)		probably benign	Het
Crat	T	C	2: 30,293,640 (GRCm39)		probably benign	Het
Cux2	C	T	5: 122,025,500 (GRCm39)	R56H	possibly damaging	Het
Dst	A	G	1: 34,333,631 (GRCm39)		probably null	Het
Dync2h1	G	T	9: 7,167,244 (GRCm39)		probably null	Het
Epg5	T	C	18: 77,999,118 (GRCm39)		probably benign	Het
Ergic3	G	A	2: 155,858,707 (GRCm39)	V278M	probably benign	Het
Fam20b	A	T	1: 156,509,023 (GRCm39)	D396E	probably benign	Het
Gapvd1	A	G	2: 34,594,633 (GRCm39)		probably benign	Het
Golga1	A	T	2: 38,908,453 (GRCm39)	S749T	probably damaging	Het
Gsdma2	C	T	11: 98,548,514 (GRCm39)	T255I	probably damaging	Het
Itga1	T	A	13: 115,128,996 (GRCm39)	D554V	probably benign	Het
Itgam	C	T	7: 127,680,806 (GRCm39)	A245V	probably damaging	Het
Kcnk15	A	G	2: 163,700,243 (GRCm39)	T161A	probably benign	Het
Map3k19	A	T	1: 127,750,152 (GRCm39)	N1066K	probably benign	Het
Ms4a6b	A	G	19: 11,499,044 (GRCm39)	I53V	possibly damaging	Het
Mtf1	C	T	4: 124,718,075 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,051,489 (GRCm39)		probably null	Het
Nop9	A	G	14: 55,991,205 (GRCm39)	S621G	probably benign	Het
Or1e19	A	G	11: 73,316,581 (GRCm39)	V76A	probably damaging	Het
Or5p60	A	G	7: 107,724,023 (GRCm39)	V149A	probably benign	Het
Or9a2	T	A	6: 41,748,829 (GRCm39)	I135F	possibly damaging	Het
Pacs1	A	T	19: 5,322,611 (GRCm39)	Y102*	probably null	Het
Pcdhb10	A	C	18: 37,545,485 (GRCm39)	D187A	probably damaging	Het
Pih1d2	A	G	9: 50,532,403 (GRCm39)	R170G	possibly damaging	Het
Pikfyve	A	G	1: 65,235,865 (GRCm39)	H179R	probably damaging	Het
Pknox1	A	G	17: 31,811,193 (GRCm39)	S156G	probably damaging	Het
Prkcz	T	A	4: 155,353,597 (GRCm39)	D250V	probably damaging	Het
Ro60	A	G	1: 143,641,661 (GRCm39)		probably benign	Het
Slc25a40	T	A	5: 8,497,348 (GRCm39)	S229T	probably benign	Het
Slc43a2	T	C	11: 75,435,493 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tas2r129	G	T	6: 132,928,159 (GRCm39)	C32F	probably benign	Het
Tfap2d	C	T	1: 19,174,591 (GRCm39)	R15C	possibly damaging	Het
Tonsl	T	C	15: 76,523,884 (GRCm39)	S39G	probably benign	Het
Trpc2	A	G	7: 101,742,727 (GRCm39)		probably benign	Het
Ttc17	A	G	2: 94,208,439 (GRCm39)	F144S	probably benign	Het
Twnk	G	T	19: 44,996,578 (GRCm39)	G337V	possibly damaging	Het
Uvssa	A	G	5: 33,546,168 (GRCm39)	R180G	possibly damaging	Het
Vmn1r197	T	A	13: 22,512,241 (GRCm39)	I54K	possibly damaging	Het
Vmn1r71	G	A	7: 10,482,238 (GRCm39)	T84I	probably benign	Het
Zbtb49	T	C	5: 38,358,174 (GRCm39)	E693G	probably benign	Het

Other mutations in Psg16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01993:Psg16	APN	7	16,827,631 (GRCm39)	missense	probably benign	0.08
IGL02258:Psg16	APN	7	16,829,217 (GRCm39)	missense	probably damaging	1.00
R0379:Psg16	UTSW	7	16,864,583 (GRCm39)	missense	probably benign	0.09
R0389:Psg16	UTSW	7	16,829,088 (GRCm39)	missense	probably benign
R1231:Psg16	UTSW	7	16,829,230 (GRCm39)	nonsense	probably null
R1594:Psg16	UTSW	7	16,827,748 (GRCm39)	missense	probably damaging	1.00
R2064:Psg16	UTSW	7	16,827,673 (GRCm39)	missense	possibly damaging	0.91
R2118:Psg16	UTSW	7	16,824,548 (GRCm39)	missense	probably benign	0.33
R3806:Psg16	UTSW	7	16,824,609 (GRCm39)	missense	probably benign	0.24
R4397:Psg16	UTSW	7	16,824,623 (GRCm39)	missense	possibly damaging	0.68
R4583:Psg16	UTSW	7	16,829,097 (GRCm39)	missense	probably benign	0.01
R4685:Psg16	UTSW	7	16,824,459 (GRCm39)	missense	probably benign	0.00
R4929:Psg16	UTSW	7	16,829,031 (GRCm39)	missense	possibly damaging	0.79
R5310:Psg16	UTSW	7	16,824,560 (GRCm39)	missense	probably damaging	0.99
R6106:Psg16	UTSW	7	16,829,091 (GRCm39)	missense	possibly damaging	0.73
R6320:Psg16	UTSW	7	16,822,112 (GRCm39)	missense	probably damaging	1.00
R6702:Psg16	UTSW	7	16,824,321 (GRCm39)	missense	probably damaging	1.00
R6703:Psg16	UTSW	7	16,824,321 (GRCm39)	missense	probably damaging	1.00
R7329:Psg16	UTSW	7	16,824,611 (GRCm39)	missense	possibly damaging	0.86
R7679:Psg16	UTSW	7	16,827,685 (GRCm39)	missense	probably damaging	1.00
R8292:Psg16	UTSW	7	16,827,701 (GRCm39)	missense	probably damaging	0.99
R8372:Psg16	UTSW	7	16,829,240 (GRCm39)	missense	probably benign	0.10
R8491:Psg16	UTSW	7	16,824,437 (GRCm39)	missense	probably damaging	1.00
R8796:Psg16	UTSW	7	16,827,814 (GRCm39)	missense	possibly damaging	0.90
R9131:Psg16	UTSW	7	16,832,024 (GRCm39)	missense	probably benign	0.00
R9437:Psg16	UTSW	7	16,827,715 (GRCm39)	missense	probably damaging	1.00
R9659:Psg16	UTSW	7	16,824,524 (GRCm39)	missense	possibly damaging	0.55
R9746:Psg16	UTSW	7	16,832,086 (GRCm39)	missense	probably benign	0.02
R9788:Psg16	UTSW	7	16,824,524 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TCAGGATGCAGGTCACCGTCTTTC -3'
(R):5'- AAATAGTGTAAGGCACACCCAGCAG -3'

Sequencing Primer
(F):5'- GTCTTTCCACCAAGCACAATG -3'
(R):5'- GCCATAGAGAGTCACTTACTGTTC -3'

Posted On

2013-05-23