Mutagenetix > Incidental Mutation

Incidental Mutation 'R9092:Serpina1b'

691082

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

068908-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R9092 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103694415-103704448 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103696540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 290 (I290F)

Ref Sequence

ENSEMBL: ENSMUSP00000093101 (fasta)

Gene Model

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

AlphaFold

P22599

Predicted Effect

probably benign
Transcript: ENSMUST00000095450
AA Change: I290F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000093101
Gene: ENSMUSG00000071178
AA Change: I290F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164454
AA Change: I290F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127266
Gene: ENSMUSG00000071178
AA Change: I290F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000186166
AA Change: I290F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139941
Gene: ENSMUSG00000071178
AA Change: I290F

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: 99.8%
20x: 99.4%

Validation Efficiency

93% (56/60)

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
Chl1	T	C	6: 103,645,815 (GRCm39)		probably benign	Het
Crtc3	T	C	7: 80,239,628 (GRCm39)	M575V	probably benign	Het
Cux1	T	A	5: 136,514,671 (GRCm39)	N22I	probably damaging	Het
Dcun1d2	G	A	8: 13,307,935 (GRCm39)	R248W	probably damaging	Het
Dlc1	G	T	8: 37,199,860 (GRCm39)	H7Q	probably benign	Het
Drd2	A	G	9: 49,307,004 (GRCm39)	D30G	probably benign	Het
Duxf3	GCCC	GCC	10: 58,066,944 (GRCm39)		probably null	Het
E2f7	T	C	10: 110,616,874 (GRCm39)	S705P	probably benign	Het
Ephb3	G	A	16: 21,041,214 (GRCm39)	S977N	probably benign	Het
F13a1	T	G	13: 37,089,993 (GRCm39)	D448A	probably benign	Het
Fam216b	T	C	14: 78,322,537 (GRCm39)	T56A	possibly damaging	Het
Fcho2	T	C	13: 98,886,391 (GRCm39)	T408A	probably benign	Het
Flvcr1	A	T	1: 190,740,364 (GRCm39)	V552E		Het
Gab3	CTT	CTTGTT	X: 74,043,612 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,602 (GRCm39)		probably benign	Het
Galnt15	A	G	14: 31,780,196 (GRCm39)	K622E	probably benign	Het
Gjb3	GCCAGATGCGCCCA	GCCAGATGCGCCCAGATGCGCCCA	4: 127,220,458 (GRCm39)		probably null	Het
Gjb3	A	AGATGCGCCCG	4: 127,220,471 (GRCm39)		probably null	Het
Gm5414	T	G	15: 101,536,345 (GRCm39)	R93S	probably benign	Het
Gtf2i	A	G	5: 134,318,241 (GRCm39)	*87Q	probably null	Het
Il7r	T	A	15: 9,510,270 (GRCm39)	H261L	probably benign	Het
Itsn1	T	A	16: 91,609,002 (GRCm39)	M250K	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Liat1	A	G	11: 75,893,887 (GRCm39)	D88G	possibly damaging	Het
Lrrc47	C	A	4: 154,096,421 (GRCm39)	T72K	possibly damaging	Het
Map2k4	C	A	11: 65,581,599 (GRCm39)	R371L	probably benign	Het
Mmrn2	T	C	14: 34,118,587 (GRCm39)	F158L	probably benign	Het
Mtus1	A	T	8: 41,455,475 (GRCm39)	L242Q	probably damaging	Het
Myo5a	T	C	9: 75,054,414 (GRCm39)		probably null	Het
Noc3l	T	A	19: 38,798,487 (GRCm39)	K305I	probably damaging	Het
Or4p8	T	C	2: 88,727,321 (GRCm39)	T207A	probably damaging	Het
Pag1	T	C	3: 9,764,848 (GRCm39)	T102A	probably benign	Het
Pam	A	G	1: 97,791,976 (GRCm39)	S482P	probably benign	Het
Pax1	T	G	2: 147,204,287 (GRCm39)	W23G	unknown	Het
Pcdhgb1	T	A	18: 37,813,989 (GRCm39)	V160D	possibly damaging	Het
Pdzph1	T	C	17: 59,280,125 (GRCm39)	D719G	probably damaging	Het
Phlda1	T	C	10: 111,342,474 (GRCm39)	L70S	possibly damaging	Het
Pikfyve	G	A	1: 65,283,559 (GRCm39)	R732K	probably damaging	Het
Pkd1	G	T	17: 24,788,347 (GRCm39)	V702F	possibly damaging	Het
Pkhd1	A	G	1: 20,632,586 (GRCm39)	Y610H	probably benign	Het
Pofut1	T	G	2: 153,101,508 (GRCm39)	H87Q	probably benign	Het
Runx2	C	A	17: 45,046,443 (GRCm39)	D109Y	probably damaging	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Sh3tc1	T	C	5: 35,874,321 (GRCm39)	N198S	probably benign	Het
Slc27a6	C	A	18: 58,742,330 (GRCm39)	R515S	probably benign	Het
Sorbs3	C	T	14: 70,445,004 (GRCm39)	V25I	probably benign	Het
Speg	A	G	1: 75,399,378 (GRCm39)	E2275G	probably benign	Het
Tmem161b	C	T	13: 84,440,503 (GRCm39)	T307I	possibly damaging	Het
Tmem30a	T	C	9: 79,678,581 (GRCm39)	D361G	probably damaging	Het
Tmprss11c	T	C	5: 86,385,495 (GRCm39)	T326A	probably benign	Het
Tpbg	T	C	9: 85,726,916 (GRCm39)	V295A	possibly damaging	Het
Ulk4	A	T	9: 120,903,003 (GRCm39)	I1158N		Het
Utp20	C	A	10: 88,604,679 (GRCm39)	A1739S	probably benign	Het
Utp20	T	C	10: 88,611,180 (GRCm39)	N1379S	probably damaging	Het
Vmn1r66	T	A	7: 10,008,110 (GRCm39)	I308F	possibly damaging	Het
Vmn2r101	A	T	17: 19,809,807 (GRCm39)	T198S	probably benign	Het
Vps16	T	C	2: 130,281,593 (GRCm39)	I318T	probably damaging	Het
Wdr11	T	A	7: 129,226,451 (GRCm39)	W750R	probably damaging	Het
Zfp608	A	G	18: 55,031,648 (GRCm39)	I764T	probably benign	Het
Zfp708	C	A	13: 67,218,564 (GRCm39)	D420Y	probably damaging	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
R7679:Serpina1b	UTSW	12	103,696,774 (GRCm39)	missense	probably damaging	1.00
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
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'- AGCATGCTCTAGGAAAGCTGG -3'
(R):5'- GAAGGTGCCCATGATGATGC -3'

Sequencing Primer
(F):5'- GACTGATAGGAACAGAGCCTTTCTC -3'
(R):5'- GTGCCCATGATGATGCTCTCG -3'

Posted On

2021-12-30