Mutagenetix > Incidental Mutation

Incidental Mutation 'R7025:Serpina3k'

545923

Institutional Source

Beutler Lab

Gene Symbol

Serpina3k

Ensembl Gene

ENSMUSG00000058207

Gene Name

serine (or cysteine) peptidase inhibitor, clade A, member 3K

Synonyms

Spi-2, alpha-1 antiproteinase, MMSpi2, 1300001I07Rik, RP54, contrapsin, Spi2, MMCM2, D12Rp54

MMRRC Submission

045126-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R7025 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104304745-104311998 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104307401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 211 (Y211F)

Ref Sequence

ENSEMBL: ENSMUSP00000042095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043058] [ENSMUST00000101078]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000043058
AA Change: Y211F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000042095
Gene: ENSMUSG00000058207
AA Change: Y211F

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SERPIN	57	417	4.77e-195	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000101078

SMART Domains

Protein: ENSMUSP00000098639
Gene: ENSMUSG00000079012

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SERPIN	56	417	3.12e-199	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd4	T	A	11: 102,995,364 (GRCm39)	L90M	probably damaging	Het
Acot7	T	C	4: 152,262,646 (GRCm39)	S7P	unknown	Het
Ahcyl2	T	C	6: 29,908,420 (GRCm39)	Y388H	probably damaging	Het
Atp1a2	T	A	1: 172,112,117 (GRCm39)	R593*	probably null	Het
Bicral	T	C	17: 47,112,594 (GRCm39)	T869A	probably benign	Het
Brca2	C	T	5: 150,463,943 (GRCm39)	P1236S	probably benign	Het
Cacna2d1	C	T	5: 16,557,666 (GRCm39)	Q699*	probably null	Het
Ccser2	T	C	14: 36,661,964 (GRCm39)	N407D	probably damaging	Het
Cd300lg	A	G	11: 101,933,900 (GRCm39)	Y49C	probably damaging	Het
Cdh12	C	A	15: 21,358,900 (GRCm39)	T108K	probably damaging	Het
Ctnnd1	A	T	2: 84,440,950 (GRCm39)	I715K	possibly damaging	Het
Cyp17a1	T	A	19: 46,659,419 (GRCm39)	D137V	probably damaging	Het
Dbr1	A	G	9: 99,458,036 (GRCm39)	T19A	probably damaging	Het
Dnah3	C	T	7: 119,629,233 (GRCm39)	A1441T	possibly damaging	Het
Dpt	G	A	1: 164,624,508 (GRCm39)	D70N	probably damaging	Het
Elk4	C	A	1: 131,947,107 (GRCm39)	P366Q	probably damaging	Het
Eml4	A	C	17: 83,732,740 (GRCm39)	D131A	probably benign	Het
Faap24	A	G	7: 35,092,296 (GRCm39)	I207T	possibly damaging	Het
Fam219a	T	C	4: 41,521,925 (GRCm39)	S41G	probably benign	Het
Gask1b	T	C	3: 79,793,855 (GRCm39)	Y108H	probably damaging	Het
Ifi203	T	C	1: 173,755,951 (GRCm39)		probably benign	Het
Inpp4a	T	C	1: 37,408,504 (GRCm39)	V295A	probably benign	Het
Kif2a	A	G	13: 107,119,102 (GRCm39)	Y267H	probably damaging	Het
Kprp	T	A	3: 92,732,504 (GRCm39)	Q182L	probably benign	Het
Krt90	T	C	15: 101,465,610 (GRCm39)	K337R	possibly damaging	Het
Lrp2	T	A	2: 69,313,372 (GRCm39)	Y2453F	possibly damaging	Het
Magel2	A	C	7: 62,029,535 (GRCm39)	Y813S	unknown	Het
Myh7	C	A	14: 55,212,101 (GRCm39)	E1548*	probably null	Het
Myh8	A	G	11: 67,188,365 (GRCm39)	T1009A	probably benign	Het
Nab2	T	A	10: 127,502,377 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,186,285 (GRCm39)	D929G	possibly damaging	Het
Nelfb	A	C	2: 25,100,505 (GRCm39)	V155G	probably damaging	Het
Nmur1	C	A	1: 86,315,570 (GRCm39)	M65I	possibly damaging	Het
Nop56	C	T	2: 130,119,801 (GRCm39)	R81*	probably null	Het
Npnt	C	T	3: 132,614,157 (GRCm39)	C47Y	probably damaging	Het
Nrp1	G	T	8: 129,207,435 (GRCm39)	C610F	probably damaging	Het
Or4a71	T	A	2: 89,357,948 (GRCm39)	I269F	probably damaging	Het
Or5d45	T	C	2: 88,153,606 (GRCm39)	K148E	probably damaging	Het
Or6c63-ps1	T	A	10: 128,900,544 (GRCm39)	M1L	probably benign	Het
Pax5	G	A	4: 44,679,501 (GRCm39)	Q93*	probably null	Het
Pcnt	G	T	10: 76,239,669 (GRCm39)	Q1273K	probably damaging	Het
Pde4dip	G	A	3: 97,631,499 (GRCm39)	Q1137*	probably null	Het
Pfas	A	T	11: 68,881,586 (GRCm39)	D959E	probably benign	Het
Pira13	T	A	7: 3,824,261 (GRCm39)	K629*	probably null	Het
Prex1	TCCGACCCC	TCCGACCCCGACCCC	2: 166,455,107 (GRCm39)		probably benign	Het
Prpf40b	C	T	15: 99,204,281 (GRCm39)	Q182*	probably null	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rpe65	A	C	3: 159,328,322 (GRCm39)	E406A	probably damaging	Het
Shkbp1	T	C	7: 27,054,706 (GRCm39)	I65V	possibly damaging	Het
Slc22a29	G	A	19: 8,137,944 (GRCm39)	P544S	probably benign	Het
Stab2	T	C	10: 86,686,701 (GRCm39)	D2281G	probably damaging	Het
Tjp2	A	G	19: 24,110,052 (GRCm39)	M64T	probably benign	Het
Tnfrsf8	C	T	4: 145,000,973 (GRCm39)	V378I	possibly damaging	Het
Trpm1	A	T	7: 63,876,462 (GRCm39)		probably null	Het
Ubqln3	A	G	7: 103,790,482 (GRCm39)	I536T	probably benign	Het
Vmn1r44	A	G	6: 89,870,736 (GRCm39)	T161A	possibly damaging	Het
Vmn2r108	T	A	17: 20,691,345 (GRCm39)	I393F	possibly damaging	Het

Other mutations in Serpina3k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01331:Serpina3k	APN	12	104,309,369 (GRCm39)	missense	probably benign	0.36
IGL01402:Serpina3k	APN	12	104,306,882 (GRCm39)	missense	probably benign	0.00
IGL01404:Serpina3k	APN	12	104,306,882 (GRCm39)	missense	probably benign	0.00
IGL01958:Serpina3k	APN	12	104,307,316 (GRCm39)	missense	probably damaging	1.00
IGL02031:Serpina3k	APN	12	104,311,525 (GRCm39)	missense	probably benign	0.08
IGL02055:Serpina3k	APN	12	104,307,295 (GRCm39)	nonsense	probably null
IGL02981:Serpina3k	APN	12	104,307,250 (GRCm39)	missense	probably benign	0.02
IGL03269:Serpina3k	APN	12	104,306,780 (GRCm39)	missense	possibly damaging	0.83
R1076:Serpina3k	UTSW	12	104,307,253 (GRCm39)	missense	probably benign	0.00
R2360:Serpina3k	UTSW	12	104,307,166 (GRCm39)	nonsense	probably null
R3816:Serpina3k	UTSW	12	104,307,221 (GRCm39)	missense	probably benign	0.08
R4577:Serpina3k	UTSW	12	104,310,451 (GRCm39)	missense	possibly damaging	0.94
R4656:Serpina3k	UTSW	12	104,311,532 (GRCm39)	missense	probably damaging	1.00
R4732:Serpina3k	UTSW	12	104,307,119 (GRCm39)	missense	probably damaging	1.00
R4733:Serpina3k	UTSW	12	104,307,119 (GRCm39)	missense	probably damaging	1.00
R4916:Serpina3k	UTSW	12	104,309,269 (GRCm39)	missense	probably damaging	1.00
R4999:Serpina3k	UTSW	12	104,307,305 (GRCm39)	missense	probably damaging	1.00
R5053:Serpina3k	UTSW	12	104,309,473 (GRCm39)	critical splice donor site	probably null
R6300:Serpina3k	UTSW	12	104,306,981 (GRCm39)	missense	probably damaging	1.00
R6343:Serpina3k	UTSW	12	104,311,562 (GRCm39)	missense	probably benign
R6851:Serpina3k	UTSW	12	104,311,625 (GRCm39)	missense	probably benign	0.00
R6858:Serpina3k	UTSW	12	104,311,504 (GRCm39)	missense	possibly damaging	0.85
R6872:Serpina3k	UTSW	12	104,310,519 (GRCm39)	missense	probably benign	0.25
R6992:Serpina3k	UTSW	12	104,307,366 (GRCm39)	missense	probably benign	0.00
R7050:Serpina3k	UTSW	12	104,307,403 (GRCm39)	missense	possibly damaging	0.96
R7238:Serpina3k	UTSW	12	104,309,367 (GRCm39)	missense	probably damaging	1.00
R7240:Serpina3k	UTSW	12	104,306,861 (GRCm39)	missense	probably benign	0.05
R7469:Serpina3k	UTSW	12	104,311,594 (GRCm39)	missense	not run
R8837:Serpina3k	UTSW	12	104,309,292 (GRCm39)	missense	probably benign	0.00
R9025:Serpina3k	UTSW	12	104,307,230 (GRCm39)	missense	probably damaging	1.00
R9497:Serpina3k	UTSW	12	104,309,430 (GRCm39)	missense	probably benign	0.01
X0019:Serpina3k	UTSW	12	104,306,834 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGACAAGGGCTCTGTACCAGAC -3'
(R):5'- TAGGCAGCCCTTGTAGACTG -3'

Sequencing Primer
(F):5'- TGTACCAGACTGAGGCCTTCAC -3'
(R):5'- CAGCCCTTGTAGACTGAGATC -3'

Posted On

2019-05-13