Mutagenetix > Incidental Mutation

Incidental Mutation 'R8909:Serpina1a'

678521

Institutional Source

Beutler Lab

Gene Symbol

Serpina1a

Ensembl Gene

ENSMUSG00000066366

Gene Name

serine (or cysteine) peptidase inhibitor, clade A, member 1A

Synonyms

Aat2, Aat-2, Spi1-1, PI1

MMRRC Submission

068700-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8909 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103819848-103829821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103820938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 370 (K370E)

Ref Sequence

ENSEMBL: ENSMUSP00000072652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072876] [ENSMUST00000085056] [ENSMUST00000124717]

AlphaFold

P07758

Predicted Effect

probably damaging
Transcript: ENSMUST00000072876
AA Change: K370E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072652
Gene: ENSMUSG00000066366
AA Change: K370E

Domain	Start	End	E-Value	Type
low complexity region	8	18	N/A	INTRINSIC
SERPIN	53	410	1.09e-203	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000085056
AA Change: K347E

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000082132
Gene: ENSMUSG00000066366
AA Change: K347E

Domain	Start	End	E-Value	Type
low complexity region	8	18	N/A	INTRINSIC
SERPIN	53	410	1.09e-203	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124717

SMART Domains

Protein: ENSMUSP00000120398
Gene: ENSMUSG00000066366

Domain	Start	End	E-Value	Type
low complexity region	8	18	N/A	INTRINSIC
Pfam:Serpin	46	96	2.7e-16	PFAM

Meta Mutation Damage Score

0.7019

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (47/49)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele die prior to E8.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aopep	G	T	13: 63,388,111 (GRCm39)	R698L	possibly damaging	Het
Btnl10	T	C	11: 58,813,198 (GRCm39)	C276R	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Cavin4	G	A	4: 48,672,421 (GRCm39)	G289R	probably benign	Het
Cdh9	T	C	15: 16,848,610 (GRCm39)	F430S	probably damaging	Het
Cfh	A	G	1: 140,014,086 (GRCm39)	I1246T	possibly damaging	Het
Chd8	C	T	14: 52,450,389 (GRCm39)	V1490M	possibly damaging	Het
Clec2g	A	G	6: 128,958,195 (GRCm39)	N137S	probably benign	Het
Cntn6	T	A	6: 104,825,093 (GRCm39)	S878T	probably benign	Het
Cryga	G	T	1: 65,142,173 (GRCm39)	S73R	probably benign	Het
Dach1	T	C	14: 98,406,120 (GRCm39)	D209G	probably damaging	Het
Dnai4	T	G	4: 102,944,607 (GRCm39)	E248A	possibly damaging	Het
Duox2	A	G	2: 122,126,862 (GRCm39)	S218P	probably benign	Het
Fbn2	T	A	18: 58,192,508 (GRCm39)	Q1491L	possibly damaging	Het
Foxg1	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	12: 49,431,475 (GRCm39)		probably benign	Het
Glra3	A	T	8: 56,444,159 (GRCm39)		probably null	Het
Helz	A	G	11: 107,556,834 (GRCm39)	D1284G	possibly damaging	Het
Iqsec3	G	A	6: 121,390,118 (GRCm39)	A451V	unknown	Het
Kat6b	A	G	14: 21,719,214 (GRCm39)	T1189A	probably benign	Het
Lama1	T	A	17: 68,079,736 (GRCm39)	F1203Y		Het
Lingo2	A	G	4: 35,708,349 (GRCm39)	S544P	probably damaging	Het
Llcfc1	T	C	6: 41,661,525 (GRCm39)	V25A	probably benign	Het
Map1a	A	C	2: 121,129,391 (GRCm39)	H143P	probably damaging	Het
Mbd5	T	C	2: 49,169,233 (GRCm39)	V1468A	probably benign	Het
Meis3	T	A	7: 15,919,385 (GRCm39)	M367K	possibly damaging	Het
Myo3b	G	A	2: 70,083,440 (GRCm39)	A698T	probably damaging	Het
Nbn	A	T	4: 15,970,833 (GRCm39)	D272V	probably damaging	Het
Or51a43	A	G	7: 103,718,032 (GRCm39)	S69P	probably damaging	Het
Or56a5	C	T	7: 104,793,249 (GRCm39)	V84I	probably benign	Het
Or7g20	G	T	9: 18,946,888 (GRCm39)	M156I	probably benign	Het
Or8k27	C	T	2: 86,276,082 (GRCm39)	M81I	possibly damaging	Het
Os9	C	A	10: 126,956,825 (GRCm39)		probably null	Het
Pard3b	A	G	1: 62,383,294 (GRCm39)	D796G	probably benign	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Pkp4	A	G	2: 59,184,758 (GRCm39)	E1180G	possibly damaging	Het
Plod1	T	A	4: 148,011,563 (GRCm39)	K221*	probably null	Het
Ppp6r3	T	C	19: 3,509,461 (GRCm39)	T795A	probably benign	Het
Pramel15	T	C	4: 144,103,553 (GRCm39)	Q191R	probably benign	Het
Prokr2	T	C	2: 132,215,723 (GRCm39)	E246G	probably damaging	Het
Psmb7	A	G	2: 38,503,481 (GRCm39)	M178T	probably damaging	Het
Rbm39	C	T	2: 156,019,697 (GRCm39)		probably benign	Het
Saa1	T	C	7: 46,390,773 (GRCm39)	N46S	probably benign	Het
Samd12	A	G	15: 53,521,853 (GRCm39)	L119P	probably damaging	Het
Sdc3	A	G	4: 130,546,094 (GRCm39)	E151G	unknown	Het
Slc49a3	C	T	5: 108,592,432 (GRCm39)	V253I	probably benign	Het
Tnrc18	C	A	5: 142,762,131 (GRCm39)	S681I		Het
Ulk2	C	T	11: 61,690,380 (GRCm39)	G636R	probably benign	Het
V1ra8	T	C	6: 90,179,938 (GRCm39)	L47P	possibly damaging	Het
Wasf3	T	C	5: 146,392,410 (GRCm39)	L160P		Het
Zbtb34	A	C	2: 33,301,701 (GRCm39)	V280G	possibly damaging	Het
Zfp646	T	C	7: 127,478,515 (GRCm39)	Y231H	probably damaging	Het

Other mutations in Serpina1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02159:Serpina1a	APN	12	103,820,965 (GRCm39)	missense	probably damaging	0.99
IGL02511:Serpina1a	APN	12	103,822,226 (GRCm39)	nonsense	probably null
R0071:Serpina1a	UTSW	12	103,822,002 (GRCm39)	missense	probably benign	0.03
R1610:Serpina1a	UTSW	12	103,820,096 (GRCm39)	missense	possibly damaging	0.69
R1959:Serpina1a	UTSW	12	103,820,059 (GRCm39)	nonsense	probably null
R3107:Serpina1a	UTSW	12	103,820,100 (GRCm39)	missense	probably damaging	1.00
R3108:Serpina1a	UTSW	12	103,820,100 (GRCm39)	missense	probably damaging	1.00
R4303:Serpina1a	UTSW	12	103,820,934 (GRCm39)	missense	probably damaging	1.00
R4814:Serpina1a	UTSW	12	103,821,022 (GRCm39)	missense	probably benign	0.01
R6011:Serpina1a	UTSW	12	103,823,728 (GRCm39)	missense	probably damaging	0.97
R6547:Serpina1a	UTSW	12	103,822,180 (GRCm39)	missense	probably damaging	1.00
R6548:Serpina1a	UTSW	12	103,820,017 (GRCm39)	missense	probably benign	0.00
R6724:Serpina1a	UTSW	12	103,826,679 (GRCm39)	intron	probably benign
R6915:Serpina1a	UTSW	12	103,820,110 (GRCm39)	missense	possibly damaging	0.68
R6991:Serpina1a	UTSW	12	103,820,092 (GRCm39)	missense	probably benign	0.04
R7570:Serpina1a	UTSW	12	103,820,096 (GRCm39)	missense	possibly damaging	0.69
R7629:Serpina1a	UTSW	12	103,820,067 (GRCm39)	missense	probably damaging	1.00
R8353:Serpina1a	UTSW	12	103,822,038 (GRCm39)	missense	probably benign	0.01
R8556:Serpina1a	UTSW	12	103,822,229 (GRCm39)	missense	probably damaging	1.00
R9021:Serpina1a	UTSW	12	103,824,293 (GRCm39)	missense	probably benign	0.01
R9058:Serpina1a	UTSW	12	103,820,001 (GRCm39)	missense	possibly damaging	0.94
R9786:Serpina1a	UTSW	12	103,822,140 (GRCm39)	missense	possibly damaging	0.93
Z1088:Serpina1a	UTSW	12	103,820,926 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACGCCCTAGCCAAGTGAATC -3'
(R):5'- TGTGAGAACCAGCCAGAAATAATTC -3'

Sequencing Primer
(F):5'- GTGAATCCTGACAGTCCTCAG -3'
(R):5'- CACAACTGGGTGGGTCTTGAC -3'

Posted On

2021-08-02