Mutagenetix > Incidental Mutation

Incidental Mutation 'R6171:Serpina9'

490454

Institutional Source

Beutler Lab

Gene Symbol

Serpina9

Ensembl Gene

ENSMUSG00000058260

Gene Name

serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9

Synonyms

Centerin, 2310014L03Rik

MMRRC Submission

044314-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R6171 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103962877-103979911 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 103974678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 158 (Y158*)

Ref Sequence

ENSEMBL: ENSMUSP00000130064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058464] [ENSMUST00000164023]

AlphaFold

Q9D7D2

Predicted Effect

probably null
Transcript: ENSMUST00000058464
AA Change: Y158*

SMART Domains

Protein: ENSMUSP00000058535
Gene: ENSMUSG00000058260
AA Change: Y158*

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SERPIN	55	415	1.27e-158	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000164023
AA Change: Y158*

SMART Domains

Protein: ENSMUSP00000130064
Gene: ENSMUSG00000058260
AA Change: Y158*

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SERPIN	55	205	8.9e-4	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprs	A	G	4: 126,211,110 (GRCm39)	V269A	probably damaging	Het
Atp11a	T	A	8: 12,882,663 (GRCm39)	V517D	probably damaging	Het
Atr	C	T	9: 95,763,324 (GRCm39)	Q1073*	probably null	Het
C87436	A	C	6: 86,422,449 (GRCm39)	T8P	probably benign	Het
Clasrp	T	C	7: 19,318,747 (GRCm39)		probably benign	Het
Creb3l1	G	T	2: 91,821,614 (GRCm39)	Q254K	probably damaging	Het
Dapl1	C	A	2: 59,326,946 (GRCm39)	T64K	probably benign	Het
Dnah2	A	T	11: 69,313,868 (GRCm39)	L4168Q	probably damaging	Het
Dnttip2	T	A	3: 122,072,511 (GRCm39)	I597N	probably damaging	Het
Dyrk1b	A	T	7: 27,885,975 (GRCm39)		probably null	Het
Elk3	G	T	10: 93,085,906 (GRCm39)	P132Q	probably damaging	Het
Galt	C	T	4: 41,757,541 (GRCm39)	P238S	probably damaging	Het
Gm10322	T	C	10: 59,452,084 (GRCm39)	V67A	possibly damaging	Het
Ice1	T	C	13: 70,754,850 (GRCm39)	Y412C	probably benign	Het
Kcna1	A	T	6: 126,619,286 (GRCm39)	Y345N	probably damaging	Het
Kif1b	T	C	4: 149,342,505 (GRCm39)	Y419C	probably damaging	Het
Klf15	G	T	6: 90,443,601 (GRCm39)	A59S	possibly damaging	Het
Mettl17	T	A	14: 52,126,236 (GRCm39)	Y162N	probably damaging	Het
Myh10	G	A	11: 68,682,716 (GRCm39)	R1050Q	probably damaging	Het
Nek4	T	C	14: 30,692,304 (GRCm39)	V376A	probably benign	Het
Nemp1	T	A	10: 127,525,319 (GRCm39)		probably null	Het
Nlrp9a	T	C	7: 26,258,188 (GRCm39)	I602T	possibly damaging	Het
Nphp4	T	C	4: 152,628,906 (GRCm39)	V764A	probably damaging	Het
Or12e1	T	A	2: 87,022,709 (GRCm39)	V226E	possibly damaging	Het
Or8c17	C	T	9: 38,179,898 (GRCm39)	Q22*	probably null	Het
Osbp2	A	T	11: 3,667,221 (GRCm39)		probably null	Het
Pax2	A	G	19: 44,779,179 (GRCm39)	Y185C	probably damaging	Het
Pdyn	A	T	2: 129,530,268 (GRCm39)	S134T	possibly damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Ppp1r13l	A	G	7: 19,111,436 (GRCm39)	M754V	probably benign	Het
Prr23a3	T	A	9: 98,747,731 (GRCm39)	N228K	probably benign	Het
Psmd12	T	C	11: 107,382,733 (GRCm39)	F213L	probably damaging	Het
Qser1	A	T	2: 104,619,628 (GRCm39)	S395T	probably damaging	Het
Rab7b	A	G	1: 131,626,372 (GRCm39)		probably null	Het
Rev3l	T	A	10: 39,738,709 (GRCm39)	L2821*	probably null	Het
Rplp0	A	G	5: 115,699,219 (GRCm39)	N127S	probably benign	Het
Sis	G	A	3: 72,868,360 (GRCm39)	T110M	possibly damaging	Het
Slc43a2	A	G	11: 75,453,876 (GRCm39)	Y263C	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Stard13	A	T	5: 151,016,227 (GRCm39)	V88E	probably damaging	Het
Trim29	G	A	9: 43,230,674 (GRCm39)	E286K	probably damaging	Het
Vmn2r24	T	C	6: 123,764,205 (GRCm39)	S361P	probably damaging	Het
Wnk2	T	C	13: 49,214,308 (GRCm39)	T18A	probably damaging	Het
Xylb	C	T	9: 119,210,657 (GRCm39)	T380M	probably damaging	Het
Zbtb5	T	C	4: 44,994,119 (GRCm39)	T422A	probably benign	Het
Zhx2	A	G	15: 57,686,602 (GRCm39)	E657G	probably damaging	Het

Other mutations in Serpina9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Serpina9	APN	12	103,974,845 (GRCm39)	missense	probably damaging	1.00
IGL02228:Serpina9	APN	12	103,974,859 (GRCm39)	missense	probably benign	0.02
IGL02692:Serpina9	APN	12	103,974,665 (GRCm39)	missense	probably damaging	1.00
IGL03149:Serpina9	APN	12	103,974,869 (GRCm39)	nonsense	probably null
IGL03134:Serpina9	UTSW	12	103,967,696 (GRCm39)	missense	probably null	0.18
R0119:Serpina9	UTSW	12	103,967,729 (GRCm39)	missense	probably benign	0.18
R0299:Serpina9	UTSW	12	103,967,729 (GRCm39)	missense	probably benign	0.18
R0499:Serpina9	UTSW	12	103,967,729 (GRCm39)	missense	probably benign	0.18
R1477:Serpina9	UTSW	12	103,963,362 (GRCm39)	missense	possibly damaging	0.90
R1912:Serpina9	UTSW	12	103,967,508 (GRCm39)	missense	probably damaging	1.00
R2142:Serpina9	UTSW	12	103,974,568 (GRCm39)	missense	probably benign	0.04
R2221:Serpina9	UTSW	12	103,964,523 (GRCm39)	missense	probably damaging	0.98
R2413:Serpina9	UTSW	12	103,967,485 (GRCm39)	critical splice donor site	probably null
R3939:Serpina9	UTSW	12	103,975,151 (GRCm39)	start codon destroyed	probably benign	0.01
R4515:Serpina9	UTSW	12	103,967,553 (GRCm39)	missense	probably benign	0.14
R5242:Serpina9	UTSW	12	103,974,644 (GRCm39)	missense	probably benign	0.09
R5589:Serpina9	UTSW	12	103,967,728 (GRCm39)	missense	probably benign	0.00
R5900:Serpina9	UTSW	12	103,975,130 (GRCm39)	nonsense	probably null
R6195:Serpina9	UTSW	12	103,967,666 (GRCm39)	missense	probably damaging	0.96
R6566:Serpina9	UTSW	12	103,963,296 (GRCm39)	missense	possibly damaging	0.61
R6995:Serpina9	UTSW	12	103,967,495 (GRCm39)	missense	probably damaging	1.00
R7762:Serpina9	UTSW	12	103,967,575 (GRCm39)	missense	probably damaging	0.98
R7808:Serpina9	UTSW	12	103,967,484 (GRCm39)	critical splice donor site	probably null
R7860:Serpina9	UTSW	12	103,967,680 (GRCm39)	missense	probably benign	0.01
R7935:Serpina9	UTSW	12	103,964,421 (GRCm39)	missense	probably damaging	1.00
R9041:Serpina9	UTSW	12	103,967,737 (GRCm39)	missense
Z1176:Serpina9	UTSW	12	103,967,543 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTTGATTACACAATACCCAAAGG -3'
(R):5'- CAACTTCACGTGGGTTTCG -3'

Sequencing Primer
(F):5'- CCACTGCATCGATGGGATATG -3'
(R):5'- GTTTCGGAGCCCACCATC -3'

Posted On

2017-10-10