Mutagenetix > Incidental Mutation

Incidental Mutation 'R7622:Serpina3m'

589211

Institutional Source

Beutler Lab

Gene Symbol

Serpina3m

Ensembl Gene

ENSMUSG00000079012

Gene Name

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

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R7622 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104338486-104394257 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104389575 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 167 (D167G)

Ref Sequence

ENSEMBL: ENSMUSP00000098639 (fasta)

Gene Model

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

AlphaFold

Q03734

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101078
AA Change: D167G

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098639
Gene: ENSMUSG00000079012
AA Change: D167G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168797
AA Change: D167G

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130979
Gene: ENSMUSG00000079012
AA Change: D167G

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: 99.7%
20x: 99.1%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	A	3: 36,948,413	C1502*	probably null	Het
Adgrd1	G	A	5: 129,139,624	D384N	probably benign	Het
Aqp8	T	C	7: 123,466,660	F226S	possibly damaging	Het
Arl6ip6	A	G	2: 53,217,327	Y207C	probably damaging	Het
Cbfa2t2	A	G	2: 154,500,445	E27G	possibly damaging	Het
Cdc42bpb	T	G	12: 111,294,772	E201A	unknown	Het
Cfap54	A	C	10: 92,956,944	V1769G	unknown	Het
Dmxl2	C	T	9: 54,472,218	G7S	probably damaging	Het
Dnah6	G	T	6: 73,124,759	F1927L	possibly damaging	Het
Dnajc6	A	G	4: 101,640,491	E942G	probably damaging	Het
Fam170a	A	G	18: 50,282,902	R324G	probably benign	Het
Gapdhs	G	A	7: 30,739,331	T9I	unknown	Het
Gm10320	T	A	13: 98,489,724	R51*	probably null	Het
Gm19410	A	T	8: 35,810,347	T1776S	possibly damaging	Het
Gm4846	A	T	1: 166,495,872	M94K	possibly damaging	Het
Ighv2-5	G	A	12: 113,685,738	Q32*	probably null	Het
Klc2	T	C	19: 5,111,632	E310G	probably damaging	Het
Krt75	A	G	15: 101,570,272	M309T	probably damaging	Het
Lrp11	G	A	10: 7,590,172	G41R	unknown	Het
Lrrc52	G	T	1: 167,466,095	P207Q	probably benign	Het
Lrrc52	G	T	1: 167,466,096	P207T	probably benign	Het
Lrrk2	A	T	15: 91,812,323	D2438V	probably damaging	Het
Mycbp	C	T	4: 123,905,301	T28M	probably damaging	Het
Myh14	A	G	7: 44,632,422	V804A	probably benign	Het
Myo16	A	G	8: 10,376,238	I332V	unknown	Het
Ncor1	G	T	11: 62,317,968	Q1359K	probably benign	Het
Olfr1055	A	G	2: 86,347,662	Y35H	possibly damaging	Het
Olfr1112	A	T	2: 87,192,250	I188L	probably benign	Het
Olfr50	A	G	2: 36,793,931	K232E	probably benign	Het
Olfr548-ps1	A	G	7: 102,542,623	H229R	probably benign	Het
Oog3	T	C	4: 144,158,319	D349G	probably benign	Het
Pate4	A	G	9: 35,608,299	S32P	possibly damaging	Het
Pcdhb7	A	C	18: 37,342,461	S217R	probably benign	Het
Pde1c	G	A	6: 56,126,925	R580C	probably damaging	Het
Pi4ka	C	A	16: 17,293,977	A1545S		Het
Pign	G	T	1: 105,648,117	T266K	possibly damaging	Het
Pitpnm2	A	G	5: 124,122,027	I1134T	probably benign	Het
Ppfia2	G	A	10: 106,830,659	V409I	possibly damaging	Het
Prr7	A	G	13: 55,472,796	T206A	probably benign	Het
Rnf13	A	T	3: 57,820,534	R212*	probably null	Het
Rwdd2b	T	C	16: 87,434,612	N218S	probably benign	Het
Slit2	A	T	5: 47,985,205	N56Y	probably damaging	Het
Sprr3	G	T	3: 92,457,285	T84K	probably damaging	Het
Stab2	A	T	10: 86,873,902	H1626Q	possibly damaging	Het
Tex2	C	A	11: 106,546,895	D650Y	unknown	Het
Tmprss6	A	G	15: 78,446,726	S436P	probably benign	Het
Uba2	A	C	7: 34,165,435	F63L	probably damaging	Het
Ubxn2b	C	T	4: 6,214,692	S242L	probably damaging	Het
Vmn1r86	T	G	7: 13,102,758	I64L	probably benign	Het
Vmn2r67	A	T	7: 85,136,454	V781E	probably damaging	Het
Vmn2r80	T	A	10: 79,194,263	F641Y	probably damaging	Het
Wdfy4	A	T	14: 33,078,274	I1965K		Het
Wdr25	G	A	12: 108,992,893	G344S	possibly damaging	Het
Wdr90	G	T	17: 25,854,109	F837L	probably benign	Het
Xpo4	A	G	14: 57,597,011	V704A	possibly damaging	Het
Zc3h12d	A	G	10: 7,867,269	K268E	probably damaging	Het

Other mutations in Serpina3m

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4976:Serpina3m	UTSW	12	104358623	splice site	probably null
R1797:Serpina3m	UTSW	12	104389515	missense	probably damaging	1.00
R1929:Serpina3m	UTSW	12	104389322	missense	probably damaging	0.97
R1991:Serpina3m	UTSW	12	104389699	nonsense	probably null
R2032:Serpina3m	UTSW	12	104389669	missense	probably benign	0.00
R2094:Serpina3m	UTSW	12	104389270	missense	probably benign	0.35
R2103:Serpina3m	UTSW	12	104389699	nonsense	probably null
R2121:Serpina3m	UTSW	12	104389682	missense	possibly damaging	0.59
R2147:Serpina3m	UTSW	12	104389224	missense	probably benign	0.01
R2241:Serpina3m	UTSW	12	104389449	missense	probably benign	0.01
R2330:Serpina3m	UTSW	12	104391704	missense	possibly damaging	0.61
R4057:Serpina3m	UTSW	12	104391737	splice site	probably benign
R4275:Serpina3m	UTSW	12	104389116	missense	probably damaging	0.99
R4466:Serpina3m	UTSW	12	104391615	missense	probably damaging	1.00
R4901:Serpina3m	UTSW	12	104389649	nonsense	probably null
R4924:Serpina3m	UTSW	12	104391470	missense	probably benign	0.00
R4964:Serpina3m	UTSW	12	104389101	missense	probably benign	0.43
R5723:Serpina3m	UTSW	12	104393911	missense	probably damaging	0.96
R5836:Serpina3m	UTSW	12	104389250	missense	probably damaging	1.00
R6172:Serpina3m	UTSW	12	104389227	missense	probably damaging	1.00
R6619:Serpina3m	UTSW	12	104391507	missense	probably benign	0.02
R6857:Serpina3m	UTSW	12	104389326	missense	probably damaging	1.00
R6886:Serpina3m	UTSW	12	104389127	missense	possibly damaging	0.94
R7063:Serpina3m	UTSW	12	104391467	missense	probably benign	0.00
R7170:Serpina3m	UTSW	12	104389518	missense	probably damaging	1.00
R8222:Serpina3m	UTSW	12	104392701	missense	possibly damaging	0.78
R8771:Serpina3m	UTSW	12	104391582	missense	probably damaging	0.98
R8853:Serpina3m	UTSW	12	104389655	missense	probably benign
R8913:Serpina3m	UTSW	12	104389218	missense	probably benign	0.32
R9641:Serpina3m	UTSW	12	104393826	nonsense	probably null
R9709:Serpina3m	UTSW	12	104392749	missense	probably damaging	1.00
Z1177:Serpina3m	UTSW	12	104389452	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGACATCCACCAGGGCTTTG -3'
(R):5'- AAGGCTATGGGCATCTCCTTTAC -3'

Sequencing Primer
(F):5'- ACCAGGGCTTTGGGCAC -3'
(R):5'- TGGACATCTTATAGCACAGGTACGC -3'

Posted On

2019-10-24