Mutagenetix > Incidental Mutations

Incidental Mutation 'R0195:Serpina11'

60746

Institutional Source

Beutler Lab

Gene Symbol

Serpina11

Ensembl Gene

ENSMUSG00000063232

Gene Name

serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11

Synonyms

LOC380780

MMRRC Submission

038454-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R0195 (G1)

Quality Score

129

Status

Validated

Chromosome

Chromosomal Location

103980243-103989957 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103985872 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 213 (Y213C)

Ref Sequence

ENSEMBL: ENSMUSP00000135138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074693] [ENSMUST00000120251] [ENSMUST00000151709] [ENSMUST00000176246]

Predicted Effect

probably damaging
Transcript: ENSMUST00000074693
AA Change: Y215C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074258
Gene: ENSMUSG00000063232
AA Change: Y215C

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SERPIN	64	424	3.55e-139	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120251
AA Change: Y213C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112420
Gene: ENSMUSG00000063232
AA Change: Y213C

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SERPIN	62	422	3.55e-139	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139777

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151709
AA Change: Y220C

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115400
Gene: ENSMUSG00000063232
AA Change: Y220C

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
SERPIN	69	237	5.23e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176106

Predicted Effect

probably damaging
Transcript: ENSMUST00000176246
AA Change: Y213C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135138
Gene: ENSMUSG00000063232
AA Change: Y213C

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SERPIN	62	258	3.22e-9	SMART

Meta Mutation Damage Score

0.7556

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.4%

Validation Efficiency

98% (156/160)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	G	11: 100,512,974	R362P	possibly damaging	Het
Adam24	T	A	8: 40,681,766	W758R	probably benign	Het
Adam26b	G	T	8: 43,520,270	T565K	probably damaging	Het
Adam7	T	G	14: 68,527,627		probably benign	Het
Adamts19	A	G	18: 58,969,870		probably benign	Het
Add1	A	G	5: 34,610,646		probably benign	Het
Ago1	A	G	4: 126,463,691	C64R	probably benign	Het
Ankrd12	C	T	17: 66,049,948		probably null	Het
Arhgef33	A	G	17: 80,381,434	K820E	probably damaging	Het
Arl9	T	C	5: 77,006,494	V8A	probably damaging	Het
Aspm	T	C	1: 139,479,135	L1920P	probably damaging	Het
Atad2	A	G	15: 58,099,954		probably benign	Het
Atp2b2	A	T	6: 113,793,874	V358E	probably benign	Het
C3ar1	A	C	6: 122,851,155	C34W	possibly damaging	Het
C6	G	A	15: 4,763,471	V353M	probably benign	Het
Capn7	T	C	14: 31,365,581	I593T	probably damaging	Het
Casc3	T	A	11: 98,821,493	D119E	probably damaging	Het
Ccna1	T	A	3: 55,054,364	E45V	probably damaging	Het
Cdc37	A	G	9: 21,142,280	V180A	probably benign	Het
Cdh23	A	G	10: 60,317,059	I2393T	probably damaging	Het
Cnbd1	T	C	4: 18,906,988		probably benign	Het
Cngb3	A	T	4: 19,280,975	M15L	probably benign	Het
Crygn	A	G	5: 24,756,038	M90T	possibly damaging	Het
Cse1l	T	A	2: 166,940,088	S661R	probably benign	Het
D830013O20Rik	C	T	12: 73,364,321		noncoding transcript	Het
Ddx24	C	T	12: 103,418,961		probably null	Het
Dnah3	A	T	7: 120,077,775		probably null	Het
Dnah9	C	T	11: 65,895,905	G3634E	probably benign	Het
Dnttip2	A	T	3: 122,276,161	T342S	probably benign	Het
Evx2	G	T	2: 74,659,044	R125S	probably damaging	Het
Fbxl5	A	T	5: 43,770,798	L40Q	probably damaging	Het
Git1	T	A	11: 77,501,073	D240E	probably benign	Het
Glp2r	T	A	11: 67,709,708	K438N	probably damaging	Het
Gm4778	A	G	3: 94,265,922	Y79C	possibly damaging	Het
Hivep1	T	A	13: 42,156,153	I623N	probably benign	Het
Il17re	A	G	6: 113,466,137	E312G	probably damaging	Het
Itgb7	G	A	15: 102,222,183		probably benign	Het
Itpr3	A	G	17: 27,114,114	Y1900C	probably damaging	Het
Krt2	G	A	15: 101,813,191	Q472*	probably null	Het
Krtap5-1	A	C	7: 142,296,697	C125G	unknown	Het
Macf1	A	G	4: 123,434,916	S2554P	probably damaging	Het
March10	C	T	11: 105,385,525	G646R	probably damaging	Het
Mrpl48	A	C	7: 100,546,353		probably benign	Het
Myo16	A	T	8: 10,315,538		probably benign	Het
Nrcam	A	T	12: 44,584,845	E1060D	probably benign	Het
Nsd3	T	A	8: 25,680,693	C731S	probably damaging	Het
Nup85	T	G	11: 115,564,531	M1R	probably null	Het
Nxnl2	G	T	13: 51,171,447	R42L	probably damaging	Het
Oas3	G	A	5: 120,756,145	R39C	probably damaging	Het
Olfr272	G	A	4: 52,910,849	T315M	probably benign	Het
Orc1	C	T	4: 108,614,308	R786*	probably null	Het
P2ry6	A	T	7: 100,938,697	W152R	probably damaging	Het
Pex5l	T	C	3: 32,992,953	N283D	possibly damaging	Het
Pgk2	T	C	17: 40,207,731	I269V	probably benign	Het
Phgdh	T	G	3: 98,316,550		probably benign	Het
Pzp	A	T	6: 128,487,478	L1362Q	probably damaging	Het
Rbbp9	T	C	2: 144,548,106		probably benign	Het
Rffl	A	G	11: 82,810,163	L244P	probably damaging	Het
Srsf11	A	G	3: 158,036,535		probably benign	Het
Sspo	T	A	6: 48,486,636	V3785E	probably benign	Het
Svep1	A	T	4: 58,089,514	S1632T	possibly damaging	Het
Tm4sf1	T	A	3: 57,293,059	D74V	probably damaging	Het
Tmprss15	T	A	16: 79,034,334	T393S	probably benign	Het
Tnfaip3	A	G	10: 19,005,713	L275P	probably damaging	Het
Trim30c	A	G	7: 104,382,429	V393A	probably benign	Het
Tssk2	T	A	16: 17,899,575	S281T	probably benign	Het
Tubb4a	A	G	17: 57,081,499	S176P	probably damaging	Het
Unc45b	T	A	11: 82,937,828	M785K	probably damaging	Het
Vldlr	A	T	19: 27,238,386	D261V	probably damaging	Het
Vmn1r176	G	T	7: 23,835,585	Q48K	probably benign	Het
Vmn2r110	A	T	17: 20,574,055	L784Q	probably benign	Het
Vps13b	A	G	15: 35,471,899	T783A	probably benign	Het
Zfp800	A	G	6: 28,243,847	M373T	probably damaging	Het
Zmym1	A	G	4: 127,047,911	F895L	possibly damaging	Het

Other mutations in Serpina11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Serpina11	APN	12	103986070	missense	probably damaging	1.00
IGL01480:Serpina11	APN	12	103982851	nonsense	probably null
IGL03082:Serpina11	APN	12	103986301	missense	probably benign	0.40
R0233:Serpina11	UTSW	12	103980470	missense	probably benign	0.00
R0233:Serpina11	UTSW	12	103980470	missense	probably benign	0.00
R1318:Serpina11	UTSW	12	103986518	splice site	probably benign
R1796:Serpina11	UTSW	12	103984695	missense	probably damaging	1.00
R2102:Serpina11	UTSW	12	103982845	missense	probably benign	0.01
R2202:Serpina11	UTSW	12	103985974	missense	probably damaging	0.99
R2340:Serpina11	UTSW	12	103984743	missense	probably benign	0.02
R4528:Serpina11	UTSW	12	103986333	missense	probably benign	0.13
R4550:Serpina11	UTSW	12	103982895	missense	probably damaging	1.00
R4946:Serpina11	UTSW	12	103984664	missense	probably damaging	1.00
R5148:Serpina11	UTSW	12	103986244	missense	probably damaging	1.00
R5311:Serpina11	UTSW	12	103985962	missense	probably damaging	1.00
R6579:Serpina11	UTSW	12	103984748	missense	probably damaging	1.00
R7289:Serpina11	UTSW	12	103986502	missense	unknown
R7825:Serpina11	UTSW	12	103984577	missense	probably benign	0.02
X0028:Serpina11	UTSW	12	103985899	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CAGGTTCTCTGCTGAGACTTCTGTG -3'
(R):5'- GCCCCAAACTGGAACTGAAACTGG -3'

Sequencing Primer
(F):5'- tgtgatccatatctacatcgtcc -3'
(R):5'- CAGCAACGTTTTCTGGACAG -3'

Posted On

2013-07-24