Mutagenetix > Incidental Mutation

Incidental Mutation 'R8913:Serpina3m'

678779

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

068702-MU

Accession Numbers

Essential gene?

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

Stock #

R8913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104353424-104360518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104355477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 48 (A48V)

Ref Sequence

ENSEMBL: ENSMUSP00000098639 (fasta)

Gene Model

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

AlphaFold

Q03734

Predicted Effect

probably benign
Transcript: ENSMUST00000101078
AA Change: A48V

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000098639
Gene: ENSMUSG00000079012
AA Change: A48V

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: A48V

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130979
Gene: ENSMUSG00000079012
AA Change: A48V

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: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

96% (65/68)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,303,972 (GRCm39)	Y2102H	probably damaging	Het
Adam30	A	T	3: 98,068,580 (GRCm39)	I10F	possibly damaging	Het
Afap1l1	C	T	18: 61,889,910 (GRCm39)		probably null	Het
Asz1	T	C	6: 18,054,570 (GRCm39)	D411G	probably benign	Het
Atp8b2	A	G	3: 89,852,830 (GRCm39)	L144P		Het
Atxn7l3	G	T	11: 102,185,787 (GRCm39)	N13K	probably damaging	Het
Cap1	C	A	4: 122,761,445 (GRCm39)		probably null	Het
Cd244a	T	A	1: 171,401,774 (GRCm39)	Y167N	probably damaging	Het
Cd244a	A	T	1: 171,401,775 (GRCm39)	Y167F	probably damaging	Het
Cd302	A	G	2: 60,088,241 (GRCm39)	F92S	probably damaging	Het
Cep128	C	T	12: 91,331,221 (GRCm39)		probably null	Het
Csmd2	C	A	4: 128,417,351 (GRCm39)	P2770T		Het
Cyp4f40	G	T	17: 32,886,810 (GRCm39)	D122Y	probably benign	Het
Dnah14	A	G	1: 181,553,063 (GRCm39)	E2583G	probably benign	Het
Dync1h1	T	C	12: 110,624,602 (GRCm39)	V3714A	probably benign	Het
Fam114a1	G	T	5: 65,185,821 (GRCm39)	A381S	possibly damaging	Het
Fzd8	A	G	18: 9,213,869 (GRCm39)	Y317C	probably damaging	Het
Igfn1	T	C	1: 135,891,579 (GRCm39)	K2312R	possibly damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Klhl23	G	A	2: 69,664,234 (GRCm39)	E528K	probably damaging	Het
Lama4	T	C	10: 38,982,039 (GRCm39)	V1756A	probably benign	Het
Lcn2	C	A	2: 32,277,158 (GRCm39)	V53F	possibly damaging	Het
Lrp4	T	C	2: 91,331,785 (GRCm39)	S1633P	probably benign	Het
Map3k19	A	G	1: 127,750,363 (GRCm39)	V996A	probably benign	Het
Mettl9	T	G	7: 120,675,539 (GRCm39)	F313C	probably damaging	Het
Mios	T	A	6: 8,215,924 (GRCm39)	H373Q	probably benign	Het
Mroh2b	A	G	15: 4,947,010 (GRCm39)		probably benign	Het
Myo1a	T	C	10: 127,541,710 (GRCm39)	V83A	probably benign	Het
Naxe	T	C	3: 87,965,665 (GRCm39)	T45A	probably benign	Het
Nckap1	A	G	2: 80,401,564 (GRCm39)	V40A	possibly damaging	Het
Nherf2	G	A	17: 24,863,839 (GRCm39)	S12L	probably benign	Het
Nmt1	G	T	11: 102,948,271 (GRCm39)	R265L	probably damaging	Het
Nwd2	C	A	5: 63,963,440 (GRCm39)	A1008D	possibly damaging	Het
Obsl1	C	T	1: 75,467,892 (GRCm39)	A1334T	probably benign	Het
Oplah	T	C	15: 76,181,680 (GRCm39)	M1114V		Het
Or10a3n	T	C	7: 108,492,736 (GRCm39)	R298G	probably damaging	Het
Or10a49	A	T	7: 108,467,809 (GRCm39)	V184E	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or2w6	A	G	13: 21,843,274 (GRCm39)	F73S	probably damaging	Het
Or4c29	A	G	2: 88,739,991 (GRCm39)	F249L	probably benign	Het
Pdlim5	A	T	3: 141,950,666 (GRCm39)	F582L	probably damaging	Het
Plcb2	A	G	2: 118,544,365 (GRCm39)	F671L	probably damaging	Het
Ppfibp1	T	A	6: 146,923,947 (GRCm39)	V725E	probably damaging	Het
Psmd11	C	T	11: 80,362,338 (GRCm39)	T396I	probably damaging	Het
Ptn	C	T	6: 36,718,276 (GRCm39)	D130N	probably benign	Het
Rasgrf2	T	C	13: 92,159,034 (GRCm39)	D473G	probably benign	Het
Robo1	A	C	16: 72,701,622 (GRCm39)	I163L	probably damaging	Het
Ror1	A	C	4: 100,265,027 (GRCm39)	D167A	possibly damaging	Het
Rps6ka5	T	C	12: 100,520,595 (GRCm39)	D709G		Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Runx2	T	C	17: 44,919,169 (GRCm39)	T472A	probably benign	Het
Scn11a	T	C	9: 119,623,094 (GRCm39)	T582A	probably damaging	Het
Smim8	T	A	4: 34,769,056 (GRCm39)	D76V	possibly damaging	Het
Sqor	A	G	2: 122,641,806 (GRCm39)	K260R	probably benign	Het
Syde2	A	T	3: 145,708,148 (GRCm39)	I963F	probably damaging	Het
Tasor	A	T	14: 27,188,145 (GRCm39)	N864Y	probably damaging	Het
Tenm4	G	A	7: 96,351,952 (GRCm39)		probably benign	Het
Tm7sf3	A	T	6: 146,527,621 (GRCm39)	Y68*	probably null	Het
Tmtc2	T	A	10: 105,158,887 (GRCm39)	I569F	probably damaging	Het
Upf3a	G	A	8: 13,845,728 (GRCm39)	V276M	possibly damaging	Het
Vmn1r174	G	A	7: 23,453,375 (GRCm39)	V14M	possibly damaging	Het
Vmn2r104	A	G	17: 20,249,968 (GRCm39)	S768P	probably damaging	Het
Vmn2r60	A	T	7: 41,785,778 (GRCm39)	T194S	probably benign	Het
Zfhx2	A	G	14: 55,309,543 (GRCm39)	M852T	probably benign	Het
Zfp207	T	A	11: 80,276,744 (GRCm39)	D19E	probably damaging	Het
Zfp318	G	A	17: 46,722,699 (GRCm39)	M1567I	probably benign	Het
Zfp407	T	A	18: 84,578,653 (GRCm39)	E820V	probably damaging	Het
Zfp512b	A	T	2: 181,227,282 (GRCm39)	C46S		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
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
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'- GAAATGGTCAGAGCACCAGC -3'
(R):5'- GATGTCTGCTTCAGAGGTCTC -3'

Sequencing Primer
(F):5'- TGGTCCTCCAAGACTCAAAGGATG -3'
(R):5'- CTCTGTGAGATTGAACTTGAGACC -3'

Posted On

2021-08-02