Mutagenetix > Incidental Mutation

Incidental Mutation 'R7679:Serpina1b'

592660

Institutional Source

Beutler Lab

Gene Symbol

Serpina1b

Ensembl Gene

ENSMUSG00000071178

Gene Name

serine (or cysteine) preptidase inhibitor, clade A, member 1B

Synonyms

PI2, D12Ucla2, Spi1-2

MMRRC Submission

045707-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R7679 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103694415-103704448 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103696774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 212 (W212R)

Ref Sequence

ENSEMBL: ENSMUSP00000093101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095450] [ENSMUST00000164454] [ENSMUST00000186166] [ENSMUST00000187220]

AlphaFold

P22599

Predicted Effect

probably damaging
Transcript: ENSMUST00000095450
AA Change: W212R

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

SMART Domains

Protein: ENSMUSP00000093101
Gene: ENSMUSG00000071178
AA Change: W212R

Domain	Start	End	E-Value	Type
SERPIN	53	410	7.62e-203	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000164454
AA Change: W212R

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

SMART Domains

Protein: ENSMUSP00000127266
Gene: ENSMUSG00000071178
AA Change: W212R

Domain	Start	End	E-Value	Type
SERPIN	53	410	7.62e-203	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000186166
AA Change: W212R

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

SMART Domains

Protein: ENSMUSP00000139941
Gene: ENSMUSG00000071178
AA Change: W212R

Domain	Start	End	E-Value	Type
SERPIN	53	410	7.62e-203	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187220

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Targeted disruption of this gene leads to significantly fewer than expected heterozygous and homozygous offspring from heterozygous matings. Homozygotes are healthy with no obvious changes in major organs while heterozygotes show a 30% decrease in serum anti-elastase and anti-chymotrypsin activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	C	14: 78,752,256 (GRCm39)	Y206D		Het
Atm	A	T	9: 53,353,797 (GRCm39)	I2906N	probably damaging	Het
B4galnt4	T	C	7: 140,647,678 (GRCm39)	V422A	probably benign	Het
Bod1l	TTCAGGGATC	TTC	5: 41,977,986 (GRCm39)		probably null	Het
Ccar2	G	A	14: 70,376,684 (GRCm39)	Q887*	probably null	Het
Cdh13	A	G	8: 119,963,658 (GRCm39)	I413V	probably benign	Het
Cfap54	A	G	10: 92,803,374 (GRCm39)	V1556A	probably benign	Het
Chchd7	A	T	4: 3,941,297 (GRCm39)	N14Y	probably damaging	Het
Col24a1	C	A	3: 145,105,110 (GRCm39)	T824N	possibly damaging	Het
Col6a3	A	T	1: 90,739,473 (GRCm39)	Y859N	possibly damaging	Het
Dnaaf5	C	T	5: 139,136,392 (GRCm39)	P131S	unknown	Het
Erh	T	C	12: 80,684,345 (GRCm39)	N44S	probably benign	Het
Esm1	T	A	13: 113,346,646 (GRCm39)	D90E	probably damaging	Het
Fbxo44	A	G	4: 148,238,089 (GRCm39)	F213L	probably benign	Het
Flnc	A	G	6: 29,456,789 (GRCm39)	T2262A	probably benign	Het
Fmo9	T	C	1: 166,495,058 (GRCm39)	Q281R	probably benign	Het
Gdpgp1	G	T	7: 79,888,324 (GRCm39)	E118D	probably benign	Het
Gnas	A	T	2: 174,126,624 (GRCm39)	Q53L	probably damaging	Het
Gpr142	G	A	11: 114,697,533 (GRCm39)	V360M	possibly damaging	Het
Grn	A	G	11: 102,323,895 (GRCm39)	D46G	probably benign	Het
H2-T10	A	G	17: 36,430,216 (GRCm39)	F242L	not run	Het
Hgsnat	T	C	8: 26,444,665 (GRCm39)	T428A	probably damaging	Het
Hoxa9	A	G	6: 52,201,288 (GRCm39)	I251T	probably damaging	Het
Inpp5f	C	T	7: 128,296,247 (GRCm39)	T866I	possibly damaging	Het
Itgb1	T	A	8: 129,446,929 (GRCm39)	N481K	probably damaging	Het
Leng9	C	A	7: 4,152,659 (GRCm39)	D6Y	probably benign	Het
Lox	A	C	18: 52,658,178 (GRCm39)	F332V	possibly damaging	Het
Lrp1	G	T	10: 127,424,297 (GRCm39)	Y796*	probably null	Het
Lrrc32	G	A	7: 98,148,894 (GRCm39)	G558D	possibly damaging	Het
Lrrk2	A	G	15: 91,610,389 (GRCm39)	E707G	possibly damaging	Het
Matn4	A	G	2: 164,231,578 (GRCm39)	*625R	probably null	Het
Mcur1	T	A	13: 43,697,959 (GRCm39)	K314*	probably null	Het
Med1	G	C	11: 98,046,887 (GRCm39)	P1303R	unknown	Het
Mgam	T	C	6: 40,619,980 (GRCm39)	L23P	probably damaging	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Nfatc1	T	C	18: 80,651,205 (GRCm39)	I936V	probably benign	Het
Nol11	T	C	11: 107,064,142 (GRCm39)	S557G	probably benign	Het
Palb2	A	G	7: 121,727,237 (GRCm39)	I211T	probably benign	Het
Pard3	T	C	8: 128,098,327 (GRCm39)	V456A	probably benign	Het
Pax2	G	A	19: 44,749,376 (GRCm39)	V40M	probably damaging	Het
Pik3cb	T	C	9: 98,970,660 (GRCm39)	K344E	probably benign	Het
Pik3r3	T	A	4: 116,113,392 (GRCm39)	M45K	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Pot1a	A	G	6: 25,771,633 (GRCm39)	V196A	probably benign	Het
Prkdc	T	A	16: 15,649,183 (GRCm39)	I3719N	probably damaging	Het
Psg16	G	A	7: 16,827,685 (GRCm39)	G123S	probably damaging	Het
Psme4	A	G	11: 30,828,425 (GRCm39)	D1815G	probably damaging	Het
Rpe65	C	T	3: 159,310,030 (GRCm39)	T101I	probably damaging	Het
Rpp25l	A	C	4: 41,712,326 (GRCm39)	C150G	unknown	Het
Saxo4	T	C	19: 10,459,618 (GRCm39)	T30A	probably damaging	Het
Slc9a3	G	A	13: 74,308,395 (GRCm39)	R466H	possibly damaging	Het
Sned1	T	C	1: 93,163,760 (GRCm39)	L17P	unknown	Het
Speg	C	T	1: 75,382,959 (GRCm39)	T1056I	probably damaging	Het
Tada1	T	C	1: 166,219,540 (GRCm39)	F281L	probably benign	Het
Tbcd	G	A	11: 121,494,534 (GRCm39)	V1032I	probably benign	Het
Tlr3	A	T	8: 45,852,088 (GRCm39)	S270T	probably benign	Het
Txndc15	G	T	13: 55,873,621 (GRCm39)	R327L	probably damaging	Het
Zfp169	G	C	13: 48,651,859 (GRCm39)	L66V	probably damaging	Het
Zfp442	G	T	2: 150,252,917 (GRCm39)	Y45*	probably null	Het
Zzef1	A	G	11: 72,784,104 (GRCm39)	D2003G	probably benign	Het

Other mutations in Serpina1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Serpina1b	APN	12	103,695,555 (GRCm39)	missense	possibly damaging	0.90
IGL00990:Serpina1b	APN	12	103,694,525 (GRCm39)	missense	probably damaging	1.00
IGL01947:Serpina1b	APN	12	103,695,576 (GRCm39)	missense	probably benign	0.00
IGL03258:Serpina1b	APN	12	103,696,655 (GRCm39)	missense	probably benign	0.00
IGL03392:Serpina1b	APN	12	103,698,329 (GRCm39)	missense	possibly damaging	0.53
R1937:Serpina1b	UTSW	12	103,698,420 (GRCm39)	missense	probably benign	0.00
R2383:Serpina1b	UTSW	12	103,694,539 (GRCm39)	missense	probably benign
R3789:Serpina1b	UTSW	12	103,695,531 (GRCm39)	missense	probably damaging	1.00
R4690:Serpina1b	UTSW	12	103,698,639 (GRCm39)	missense	probably damaging	1.00
R5164:Serpina1b	UTSW	12	103,698,346 (GRCm39)	missense	probably benign	0.01
R5650:Serpina1b	UTSW	12	103,694,694 (GRCm39)	critical splice acceptor site	probably null
R6017:Serpina1b	UTSW	12	103,695,531 (GRCm39)	missense	probably damaging	1.00
R6241:Serpina1b	UTSW	12	103,695,515 (GRCm39)	splice site	probably null
R6522:Serpina1b	UTSW	12	103,701,296 (GRCm39)	splice site	probably null
R6745:Serpina1b	UTSW	12	103,696,614 (GRCm39)	missense	possibly damaging	0.60
R6884:Serpina1b	UTSW	12	103,698,712 (GRCm39)	missense	probably benign	0.00
R7053:Serpina1b	UTSW	12	103,698,688 (GRCm39)	missense	possibly damaging	0.93
R7208:Serpina1b	UTSW	12	103,694,553 (GRCm39)	missense	probably benign	0.04
R7908:Serpina1b	UTSW	12	103,694,566 (GRCm39)	missense	possibly damaging	0.65
R8056:Serpina1b	UTSW	12	103,784,137 (GRCm39)	intron	probably benign
R8237:Serpina1b	UTSW	12	103,785,063 (GRCm39)	splice site	probably null
R9092:Serpina1b	UTSW	12	103,696,540 (GRCm39)	missense	probably benign	0.00
R9112:Serpina1b	UTSW	12	103,698,699 (GRCm39)	missense	probably benign	0.08
R9123:Serpina1b	UTSW	12	103,696,566 (GRCm39)	missense	probably damaging	1.00
R9310:Serpina1b	UTSW	12	103,698,756 (GRCm39)	missense	probably benign	0.03
R9358:Serpina1b	UTSW	12	103,694,653 (GRCm39)	missense	possibly damaging	0.61
R9409:Serpina1b	UTSW	12	103,694,607 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAGAGTTTGCTCCAGATGCTGC -3'
(R):5'- AGCTCTCAGGTTCTGTGGTC -3'

Sequencing Primer
(F):5'- TTCCCATCTTCGGGCAGGAG -3'
(R):5'- TCAATGGGCTGTGTCATC -3'

Posted On

2019-11-12