Mutagenetix > Incidental Mutation

Incidental Mutation 'R2032:Serpina3m'

221398

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

040039-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R2032 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104353424-104360518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104355928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 198 (D198E)

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: D198E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000098639
Gene: ENSMUSG00000079012
AA Change: D198E

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: D198E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000130979
Gene: ENSMUSG00000079012
AA Change: D198E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,585,056 (GRCm39)		probably benign	Het
Abca7	C	T	10: 79,844,071 (GRCm39)	T1359M	probably damaging	Het
Acox2	A	G	14: 8,246,400 (GRCm38)	S464P	probably benign	Het
Adgrf1	C	T	17: 43,622,166 (GRCm39)	T801I	probably damaging	Het
Akap11	T	A	14: 78,747,477 (GRCm39)	I1637L	possibly damaging	Het
Akap12	C	A	10: 4,306,673 (GRCm39)	A1161D	possibly damaging	Het
Ankrd36	T	A	11: 5,578,616 (GRCm39)	V635D	possibly damaging	Het
Ankrd44	C	T	1: 54,762,168 (GRCm39)		probably null	Het
Atl2	A	G	17: 80,203,373 (GRCm39)	V28A	probably benign	Het
Atxn3	A	T	12: 101,908,453 (GRCm39)	L133*	probably null	Het
Bmp2	T	C	2: 133,403,216 (GRCm39)	S256P	probably benign	Het
Ccdc121rt3	G	A	5: 112,502,978 (GRCm39)	T242I	possibly damaging	Het
Ccdc138	T	A	10: 58,348,984 (GRCm39)	Y177N	possibly damaging	Het
Ccdc168	C	A	1: 44,100,900 (GRCm39)	C66F	possibly damaging	Het
Cdcp3	G	A	7: 130,844,781 (GRCm39)	G674E	probably damaging	Het
Cep164	C	T	9: 45,682,898 (GRCm39)	V931M	probably damaging	Het
Cfhr4	T	A	1: 139,660,993 (GRCm39)		probably benign	Het
CK137956	T	C	4: 127,839,069 (GRCm39)	T450A	probably benign	Het
Col23a1	G	A	11: 51,450,835 (GRCm39)	G215D	unknown	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dennd6a	T	C	14: 26,325,904 (GRCm39)	M5T	probably benign	Het
Dnajc6	T	G	4: 101,471,435 (GRCm39)	I284S	probably benign	Het
Dolpp1	C	T	2: 30,282,453 (GRCm39)	A2V	probably damaging	Het
Eml2	C	T	7: 18,936,480 (GRCm39)	T711I	probably benign	Het
Evi5l	T	C	8: 4,260,622 (GRCm39)	D1065G	probably damaging	Het
Fam110b	G	T	4: 5,799,460 (GRCm39)	A293S	probably benign	Het
Fap	A	G	2: 62,372,581 (GRCm39)	V266A	probably benign	Het
Fgf10	A	T	13: 118,852,131 (GRCm39)	Y71F	probably damaging	Het
Gm3443	G	T	19: 21,533,164 (GRCm39)	G43C	probably damaging	Het
Gpr146	T	C	5: 139,364,902 (GRCm39)		probably benign	Het
Hif3a	A	T	7: 16,785,104 (GRCm39)	L172H	probably damaging	Het
Mas1	T	C	17: 13,061,457 (GRCm39)		probably benign	Het
Nlrp5	G	A	7: 23,120,937 (GRCm39)	R717Q	probably damaging	Het
Nop14	A	G	5: 34,817,283 (GRCm39)	V36A	possibly damaging	Het
Or10v5	C	T	19: 11,805,664 (GRCm39)	C242Y	probably damaging	Het
Or51a39	A	T	7: 102,363,083 (GRCm39)	I179N	probably benign	Het
Or7a41	T	A	10: 78,871,163 (GRCm39)	F178I	possibly damaging	Het
Parp4	T	A	14: 56,866,553 (GRCm39)	I1039K	possibly damaging	Het
Pate12	T	C	9: 36,344,195 (GRCm39)		probably null	Het
Pold2	A	T	11: 5,826,757 (GRCm39)	I59N	probably benign	Het
Prr36	T	C	8: 4,264,304 (GRCm39)		probably benign	Het
Pyroxd2	T	C	19: 42,716,088 (GRCm39)		probably benign	Het
Recql	C	T	6: 142,313,009 (GRCm39)	G403R	probably damaging	Het
Sik2	A	T	9: 50,906,947 (GRCm39)	Y93N	probably damaging	Het
Slc27a3	C	T	3: 90,294,704 (GRCm39)	R389H	probably damaging	Het
Slc29a1	A	T	17: 45,897,035 (GRCm39)	M417K	probably damaging	Het
Syt13	A	G	2: 92,783,746 (GRCm39)	K339E	probably damaging	Het
Tmem237	A	T	1: 59,148,265 (GRCm39)	H163Q	probably benign	Het
Tram2	C	T	1: 21,074,180 (GRCm39)	G253R	probably null	Het
Trpv1	A	G	11: 73,129,211 (GRCm39)	T43A	probably benign	Het
Ugt2b34	A	G	5: 87,039,131 (GRCm39)	I510T	probably damaging	Het
Vmn1r224	C	A	17: 20,639,658 (GRCm39)	D78E	probably benign	Het
Vmn1r78	A	T	7: 11,887,210 (GRCm39)	I274L	probably benign	Het
Wdfy4	C	T	14: 32,868,946 (GRCm39)	V361I	probably benign	Het
Zpbp2	A	T	11: 98,445,534 (GRCm39)	K165N	probably damaging	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
R2094:Serpina3m	UTSW	12	104,355,529 (GRCm39)	missense	probably benign	0.35
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'- AAAGGACCTGCAGATCCTGG -3'
(R):5'- AAGACTTCTCTTGAGCATGTACCAAG -3'

Sequencing Primer
(F):5'- TGCAGATCCTGGCAGAATTC -3'
(R):5'- TCTCTTGAGCATGTACCAAGAAACAC -3'

Posted On

2014-08-25