Mutagenetix > Incidental Mutation

Incidental Mutation 'R9089:Serpina3a'

690842

Institutional Source

Beutler Lab

Gene Symbol

Serpina3a

Ensembl Gene

ENSMUSG00000041536

Gene Name

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

Synonyms

4933406L18Rik, alpha-1 antiproteinase,, antitrypsin

MMRRC Submission

068907-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R9089 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104078983-104088155 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104085956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 137 (I137T)

Ref Sequence

ENSEMBL: ENSMUSP00000105591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021496] [ENSMUST00000109965] [ENSMUST00000185595]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021496
AA Change: I327T

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021496
Gene: ENSMUSG00000041536
AA Change: I327T

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
SERPIN	58	419	1.73e-151	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109965
AA Change: I137T

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105591
Gene: ENSMUSG00000041536
AA Change: I137T

Domain	Start	End	E-Value	Type
SERPIN	4	229	5.39e-16	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185595
AA Change: I327T

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140024
Gene: ENSMUSG00000041536
AA Change: I327T

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
SERPIN	58	419	1.73e-151	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	A	17: 48,347,951 (GRCm39)	R118*	probably null	Het
Acadsb	T	C	7: 131,027,504 (GRCm39)	V68A	probably damaging	Het
Adgb	T	C	10: 10,318,432 (GRCm39)	R137G	probably benign	Het
Adgrl3	C	A	5: 81,808,291 (GRCm39)	N622K	possibly damaging	Het
Ager	C	A	17: 34,819,579 (GRCm39)	P366T	probably benign	Het
Barx2	C	A	9: 31,765,443 (GRCm39)	W184L	probably damaging	Het
Bckdha	A	C	7: 25,341,144 (GRCm39)	N72K	probably benign	Het
Blm	A	T	7: 80,162,867 (GRCm39)	D161E	probably damaging	Het
Ccdc121rt2	A	T	5: 112,598,757 (GRCm39)	R435W	probably damaging	Het
Cd96	G	T	16: 45,870,068 (GRCm39)	T467N	probably benign	Het
Cdk13	A	T	13: 17,978,444 (GRCm39)	S265T	unknown	Het
Col6a5	A	C	9: 105,766,142 (GRCm39)	I1926S	probably damaging	Het
Csgalnact2	A	T	6: 118,097,983 (GRCm39)	V361D	probably damaging	Het
Cstf1	T	A	2: 172,217,807 (GRCm39)	M140K		Het
Ddx41	A	T	13: 55,683,424 (GRCm39)	S128T	probably benign	Het
Deaf1	A	T	7: 140,877,465 (GRCm39)	V554D	probably damaging	Het
Dido1	C	T	2: 180,303,293 (GRCm39)	S1537N	probably benign	Het
Dmwd	T	C	7: 18,811,980 (GRCm39)	S145P	probably damaging	Het
Eftud2	A	G	11: 102,759,971 (GRCm39)	S125P	probably benign	Het
Gga1	A	G	15: 78,773,952 (GRCm39)	D325G	probably damaging	Het
Gm43518	T	C	5: 124,072,329 (GRCm39)		probably null	Het
Got1l1	A	T	8: 27,690,889 (GRCm39)	V53E	probably damaging	Het
Helz2	A	T	2: 180,881,433 (GRCm39)	C350S	probably damaging	Het
Ipo7	T	A	7: 109,643,666 (GRCm39)	F398I	possibly damaging	Het
Itga11	A	G	9: 62,678,662 (GRCm39)	N943S	probably damaging	Het
Itpa	T	A	2: 130,509,857 (GRCm39)		probably null	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kbtbd4	A	T	2: 90,737,909 (GRCm39)	N220Y	possibly damaging	Het
Kdm5b	T	A	1: 134,535,506 (GRCm39)	F594L	probably damaging	Het
Klhdc4	C	T	8: 122,524,684 (GRCm39)	V446I	probably benign	Het
Klk1b1	A	G	7: 43,620,668 (GRCm39)	I253V	possibly damaging	Het
Kynu	T	A	2: 43,489,620 (GRCm39)	M135K	probably damaging	Het
Lgi1	T	C	19: 38,294,095 (GRCm39)	I289T	possibly damaging	Het
Lhx2	A	G	2: 38,250,045 (GRCm39)	N288S	probably damaging	Het
Lrp6	G	C	6: 134,488,169 (GRCm39)	A309G	probably damaging	Het
Map2	T	A	1: 66,452,098 (GRCm39)	N329K	probably benign	Het
Med15	G	A	16: 17,473,421 (GRCm39)	P476L	unknown	Het
Muc16	A	T	9: 18,555,846 (GRCm39)	N3482K	unknown	Het
Nemf	A	C	12: 69,400,628 (GRCm39)	V149G	probably damaging	Het
Notch3	T	C	17: 32,370,521 (GRCm39)	S706G	probably benign	Het
Nphp4	T	C	4: 152,645,673 (GRCm39)	V1227A	possibly damaging	Het
Or1e31	A	G	11: 73,690,052 (GRCm39)	F177S	probably damaging	Het
Or2a52	A	T	6: 43,144,917 (GRCm39)	R308S	probably benign	Het
Or6c70	A	G	10: 129,710,488 (GRCm39)	L46P	probably damaging	Het
Parp2	A	G	14: 51,052,327 (GRCm39)	T102A	probably damaging	Het
Pcdhgc3	T	C	18: 37,941,264 (GRCm39)	V555A	possibly damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ralgapa1	A	C	12: 55,723,351 (GRCm39)	L1725R	probably damaging	Het
Reln	G	T	5: 22,130,198 (GRCm39)	D2704E	probably benign	Het
Sart3	C	A	5: 113,891,756 (GRCm39)	E405D	possibly damaging	Het
Scin	A	T	12: 40,131,703 (GRCm39)	L277*	probably null	Het
Sec62	T	A	3: 30,868,383 (GRCm39)	V204E	probably benign	Het
Sh3rf1	T	C	8: 61,825,613 (GRCm39)	M536T	probably benign	Het
Slc45a4	T	C	15: 73,457,953 (GRCm39)	H532R	probably damaging	Het
Svs5	A	G	2: 164,079,341 (GRCm39)	F189L	probably benign	Het
Synm	T	C	7: 67,408,766 (GRCm39)	D204G	probably damaging	Het
Tmtc1	A	T	6: 148,147,215 (GRCm39)	H827Q	possibly damaging	Het
Tnfrsf25	T	A	4: 152,201,929 (GRCm39)	C135*	probably null	Het
Unc13b	T	G	4: 43,095,847 (GRCm39)	I85S	probably damaging	Het
Ush2a	T	A	1: 188,487,374 (GRCm39)	Y3047*	probably null	Het
Vmn1r75	T	C	7: 11,614,453 (GRCm39)	S62P	probably damaging	Het
Vps50	T	C	6: 3,536,884 (GRCm39)	V285A	probably benign	Het
Vwa5b1	T	A	4: 138,296,742 (GRCm39)	D1095V	probably benign	Het
Zdhhc21	T	A	4: 82,725,292 (GRCm39)	D208V	probably damaging	Het
Zfp422	A	C	6: 116,604,086 (GRCm39)		probably benign	Het

Other mutations in Serpina3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Serpina3a	APN	12	104,087,758 (GRCm39)	missense	probably benign	0.05
IGL02003:Serpina3a	APN	12	104,082,259 (GRCm39)	missense	probably benign	0.02
IGL02379:Serpina3a	APN	12	104,084,919 (GRCm39)	missense	probably benign	0.00
IGL02547:Serpina3a	APN	12	104,082,802 (GRCm39)	missense	probably damaging	0.98
IGL02593:Serpina3a	APN	12	104,084,691 (GRCm39)	missense	probably benign	0.01
IGL02730:Serpina3a	APN	12	104,085,922 (GRCm39)	missense	probably damaging	1.00
IGL02953:Serpina3a	APN	12	104,082,748 (GRCm39)	missense	probably benign	0.00
IGL03197:Serpina3a	APN	12	104,082,500 (GRCm39)	missense	probably damaging	1.00
R1184:Serpina3a	UTSW	12	104,082,787 (GRCm39)	nonsense	probably null
R1635:Serpina3a	UTSW	12	104,082,737 (GRCm39)	missense	probably damaging	1.00
R1688:Serpina3a	UTSW	12	104,084,902 (GRCm39)	missense	probably benign	0.06
R1804:Serpina3a	UTSW	12	104,084,675 (GRCm39)	splice site	probably benign
R1867:Serpina3a	UTSW	12	104,084,886 (GRCm39)	missense	probably benign	0.01
R1888:Serpina3a	UTSW	12	104,082,362 (GRCm39)	missense	probably benign	0.16
R1888:Serpina3a	UTSW	12	104,082,362 (GRCm39)	missense	probably benign	0.16
R2110:Serpina3a	UTSW	12	104,082,481 (GRCm39)	missense	probably damaging	0.97
R2111:Serpina3a	UTSW	12	104,082,481 (GRCm39)	missense	probably damaging	0.97
R2305:Serpina3a	UTSW	12	104,082,787 (GRCm39)	missense	probably benign	0.05
R2326:Serpina3a	UTSW	12	104,082,758 (GRCm39)	missense	probably benign	0.01
R2405:Serpina3a	UTSW	12	104,087,577 (GRCm39)	missense	possibly damaging	0.50
R4008:Serpina3a	UTSW	12	104,084,902 (GRCm39)	missense	probably benign	0.06
R4010:Serpina3a	UTSW	12	104,084,902 (GRCm39)	missense	probably benign	0.06
R4011:Serpina3a	UTSW	12	104,084,902 (GRCm39)	missense	probably benign	0.06
R4079:Serpina3a	UTSW	12	104,085,934 (GRCm39)	nonsense	probably null
R4091:Serpina3a	UTSW	12	104,082,625 (GRCm39)	missense	probably benign	0.01
R4092:Serpina3a	UTSW	12	104,082,625 (GRCm39)	missense	probably benign	0.01
R4210:Serpina3a	UTSW	12	104,084,902 (GRCm39)	missense	probably benign	0.06
R5064:Serpina3a	UTSW	12	104,082,448 (GRCm39)	missense	probably benign	0.01
R6242:Serpina3a	UTSW	12	104,082,260 (GRCm39)	missense	probably benign	0.10
R6337:Serpina3a	UTSW	12	104,079,137 (GRCm39)	missense	probably benign	0.36
R6395:Serpina3a	UTSW	12	104,082,710 (GRCm39)	missense	probably damaging	0.99
R6683:Serpina3a	UTSW	12	104,085,896 (GRCm39)	missense	probably benign	0.16
R6994:Serpina3a	UTSW	12	104,079,089 (GRCm39)	splice site	probably null
R7117:Serpina3a	UTSW	12	104,082,436 (GRCm39)	missense	possibly damaging	0.95
R8104:Serpina3a	UTSW	12	104,079,110 (GRCm39)	start gained	probably benign
R8131:Serpina3a	UTSW	12	104,082,467 (GRCm39)	missense	probably damaging	1.00
R9042:Serpina3a	UTSW	12	104,082,362 (GRCm39)	missense	probably benign	0.16
R9141:Serpina3a	UTSW	12	104,087,649 (GRCm39)	missense	probably benign	0.00
R9426:Serpina3a	UTSW	12	104,087,649 (GRCm39)	missense	probably benign	0.00
R9564:Serpina3a	UTSW	12	104,084,886 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAAGAGGACTCTGCTCCCATG -3'
(R):5'- AGTTATCTCTCCCAGGCTTGAG -3'

Sequencing Primer
(F):5'- ACTCTGCTCCCATGAGAGG -3'
(R):5'- TCTCCCAGGCTTGAGGAATC -3'

Posted On

2021-12-30