Mutagenetix > Incidental Mutation

Incidental Mutation 'R2094:Serpina3m'

231986

Institutional Source

Beutler Lab

Gene Symbol

Serpina3m

Ensembl Gene

ENSMUSG00000079012

Gene Name

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

Synonyms

Spi2.4, MMSPi2.4, Spi2-rs1, MMCM7, contrapsin-like, alpha-1 antiproteinase, Spi-2l, antitrypsin, Spi-2rs1, 3e46

MMRRC Submission

040098-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R2094 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104353424-104360518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104355529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 65 (K65N)

Ref Sequence

ENSEMBL: ENSMUSP00000130979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101078] [ENSMUST00000168797]

AlphaFold

Q03734

Predicted Effect

probably benign
Transcript: ENSMUST00000101078
AA Change: K65N

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000098639
Gene: ENSMUSG00000079012
AA Change: K65N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168797
AA Change: K65N

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130979
Gene: ENSMUSG00000079012
AA Change: K65N

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

Meta Mutation Damage Score

0.1609

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,857,154 (GRCm39)	I169V	probably benign	Het
Arrdc5	A	G	17: 56,604,856 (GRCm39)	S144P	probably benign	Het
Astn1	A	G	1: 158,495,179 (GRCm39)	M92V	probably benign	Het
Atg5	A	G	10: 44,195,544 (GRCm39)	I189M	probably damaging	Het
Atmin	A	G	8: 117,684,277 (GRCm39)	T646A	probably damaging	Het
Atp1a2	G	A	1: 172,115,000 (GRCm39)	R262W	probably damaging	Het
Atp6v1g2	A	G	17: 35,455,785 (GRCm39)	K16E	probably damaging	Het
Bex6	G	A	16: 32,005,278 (GRCm39)	E29K	possibly damaging	Het
Casd1	A	G	6: 4,608,705 (GRCm39)	Y101C	probably damaging	Het
Ccdc168	A	C	1: 44,098,890 (GRCm39)	I736S	probably benign	Het
Cdx1	T	C	18: 61,168,984 (GRCm39)	D70G	possibly damaging	Het
Cebpz	T	C	17: 79,242,983 (GRCm39)	T224A	probably benign	Het
Cep170b	T	C	12: 112,702,164 (GRCm39)	V319A	possibly damaging	Het
Chrna2	C	T	14: 66,386,912 (GRCm39)	R353W	possibly damaging	Het
Chst5	A	T	8: 112,617,176 (GRCm39)	V148E	probably benign	Het
Clhc1	T	A	11: 29,507,771 (GRCm39)	W162R	probably benign	Het
Csmd1	T	A	8: 16,129,992 (GRCm39)	Q1710L	probably damaging	Het
Ddb1	A	C	19: 10,590,300 (GRCm39)	M276L	probably benign	Het
Dot1l	C	T	10: 80,621,712 (GRCm39)	R455C	probably damaging	Het
Dync2h1	A	G	9: 7,148,735 (GRCm39)	V903A	probably benign	Het
Eno1b	T	C	18: 48,180,542 (GRCm39)	V240A	possibly damaging	Het
Erich1	T	G	8: 14,140,527 (GRCm39)		probably benign	Het
Ermp1	A	C	19: 29,617,328 (GRCm39)	S227A	probably benign	Het
Etv1	C	A	12: 38,885,115 (GRCm39)	P143Q	probably null	Het
Gimap8	A	T	6: 48,627,502 (GRCm39)	I159F	probably benign	Het
Gpr4	G	A	7: 18,956,503 (GRCm39)	V142M	possibly damaging	Het
Gucy1a1	C	T	3: 82,020,639 (GRCm39)	C86Y	probably benign	Het
Ifngr2	T	G	16: 91,358,667 (GRCm39)		probably null	Het
Insrr	A	T	3: 87,710,488 (GRCm39)	N398I	probably damaging	Het
Iws1	A	G	18: 32,217,719 (GRCm39)	E441G	probably damaging	Het
Larp7-ps	A	G	4: 92,079,893 (GRCm39)	S32P	probably damaging	Het
Megf10	A	T	18: 57,414,785 (GRCm39)	K732*	probably null	Het
Mprip	T	A	11: 59,640,334 (GRCm39)		probably benign	Het
Mrgprb8	T	C	7: 48,038,953 (GRCm39)	V208A	probably benign	Het
Msc	G	C	1: 14,825,908 (GRCm39)	P22R	probably benign	Het
Opcml	G	A	9: 28,812,886 (GRCm39)	E193K	probably damaging	Het
Or4k15b	A	T	14: 50,272,171 (GRCm39)	S230T	probably damaging	Het
Oxsr1	A	C	9: 119,123,560 (GRCm39)	H71Q	probably benign	Het
Pkp2	T	A	16: 16,064,831 (GRCm39)	W452R	probably damaging	Het
Prrc2b	C	T	2: 32,072,582 (GRCm39)	T20I	probably damaging	Het
Rasgrp3	T	C	17: 75,810,136 (GRCm39)	S279P	probably damaging	Het
Rtl1	T	A	12: 109,557,831 (GRCm39)	D1336V	unknown	Het
Serpine2	A	G	1: 79,788,411 (GRCm39)	V182A	probably damaging	Het
Slc10a1	A	G	12: 81,002,822 (GRCm39)	V272A	possibly damaging	Het
Slc25a29	A	T	12: 108,793,358 (GRCm39)	N73K	probably damaging	Het
Slit1	G	A	19: 41,594,819 (GRCm39)	R1184W	probably damaging	Het
Srrm2	T	C	17: 24,031,403 (GRCm39)		probably benign	Het
Stk11ip	A	G	1: 75,502,165 (GRCm39)		probably benign	Het
Tcerg1	A	G	18: 42,697,210 (GRCm39)	K767R	possibly damaging	Het
Tmem82	T	C	4: 141,343,598 (GRCm39)	K224R	probably benign	Het
Tmprss11g	A	G	5: 86,647,415 (GRCm39)	L41S	probably damaging	Het
Trim42	T	C	9: 97,248,150 (GRCm39)	N182S	probably benign	Het
Ttn	T	C	2: 76,660,432 (GRCm39)	T7430A	probably benign	Het
Wwp1	T	C	4: 19,650,390 (GRCm39)	T259A	probably benign	Het

Other mutations in Serpina3m

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4976:Serpina3m	UTSW	12	104,324,882 (GRCm39)	splice site	probably null
R1797:Serpina3m	UTSW	12	104,355,774 (GRCm39)	missense	probably damaging	1.00
R1929:Serpina3m	UTSW	12	104,355,581 (GRCm39)	missense	probably damaging	0.97
R1991:Serpina3m	UTSW	12	104,355,958 (GRCm39)	nonsense	probably null
R2032:Serpina3m	UTSW	12	104,355,928 (GRCm39)	missense	probably benign	0.00
R2103:Serpina3m	UTSW	12	104,355,958 (GRCm39)	nonsense	probably null
R2121:Serpina3m	UTSW	12	104,355,941 (GRCm39)	missense	possibly damaging	0.59
R2147:Serpina3m	UTSW	12	104,355,483 (GRCm39)	missense	probably benign	0.01
R2241:Serpina3m	UTSW	12	104,355,708 (GRCm39)	missense	probably benign	0.01
R2330:Serpina3m	UTSW	12	104,357,963 (GRCm39)	missense	possibly damaging	0.61
R4057:Serpina3m	UTSW	12	104,357,996 (GRCm39)	splice site	probably benign
R4275:Serpina3m	UTSW	12	104,355,375 (GRCm39)	missense	probably damaging	0.99
R4466:Serpina3m	UTSW	12	104,357,874 (GRCm39)	missense	probably damaging	1.00
R4901:Serpina3m	UTSW	12	104,355,908 (GRCm39)	nonsense	probably null
R4924:Serpina3m	UTSW	12	104,357,729 (GRCm39)	missense	probably benign	0.00
R4964:Serpina3m	UTSW	12	104,355,360 (GRCm39)	missense	probably benign	0.43
R5723:Serpina3m	UTSW	12	104,360,170 (GRCm39)	missense	probably damaging	0.96
R5836:Serpina3m	UTSW	12	104,355,509 (GRCm39)	missense	probably damaging	1.00
R6172:Serpina3m	UTSW	12	104,355,486 (GRCm39)	missense	probably damaging	1.00
R6619:Serpina3m	UTSW	12	104,357,766 (GRCm39)	missense	probably benign	0.02
R6857:Serpina3m	UTSW	12	104,355,585 (GRCm39)	missense	probably damaging	1.00
R6886:Serpina3m	UTSW	12	104,355,386 (GRCm39)	missense	possibly damaging	0.94
R7063:Serpina3m	UTSW	12	104,357,726 (GRCm39)	missense	probably benign	0.00
R7170:Serpina3m	UTSW	12	104,355,777 (GRCm39)	missense	probably damaging	1.00
R7622:Serpina3m	UTSW	12	104,355,834 (GRCm39)	missense	possibly damaging	0.82
R8222:Serpina3m	UTSW	12	104,358,960 (GRCm39)	missense	possibly damaging	0.78
R8771:Serpina3m	UTSW	12	104,357,841 (GRCm39)	missense	probably damaging	0.98
R8853:Serpina3m	UTSW	12	104,355,914 (GRCm39)	missense	probably benign
R8913:Serpina3m	UTSW	12	104,355,477 (GRCm39)	missense	probably benign	0.32
R9641:Serpina3m	UTSW	12	104,360,085 (GRCm39)	nonsense	probably null
R9709:Serpina3m	UTSW	12	104,359,008 (GRCm39)	missense	probably damaging	1.00
Z1177:Serpina3m	UTSW	12	104,355,711 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGGGATCTTAATGGCTGGGATC -3'
(R):5'- CAGGATCTGCAGGTCCTTTTC -3'

Sequencing Primer
(F):5'- AATGGCTGGGATCTGTCCTAC -3'
(R):5'- GCAGGTCCTTTTCAATAAACATGGC -3'

Posted On

2014-09-18