Mutagenetix > Incidental Mutation

Incidental Mutation 'R9424:Serpinb9b'

712520

Institutional Source

Beutler Lab

Gene Symbol

Serpinb9b

Ensembl Gene

ENSMUSG00000021403

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 9b

Synonyms

R86, ovalbumin, Spi10, 1600019A21Rik, SPI-CI

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9424 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33211397-33224571 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33213544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 34 (S34G)

Ref Sequence

ENSEMBL: ENSMUSP00000006392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006392]

AlphaFold

Q9DAV6

Predicted Effect

probably damaging
Transcript: ENSMUST00000006392
AA Change: S34G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000006392
Gene: ENSMUSG00000021403
AA Change: S34G

Domain	Start	End	E-Value	Type
SERPIN	13	377	7.86e-164	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,947,843 (GRCm39)	I580N	probably benign	Het
Adam9	C	A	8: 25,445,953 (GRCm39)	V814F	probably benign	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Ak2	A	G	4: 128,896,195 (GRCm39)	E120G	possibly damaging	Het
Akap9	C	A	5: 4,012,223 (GRCm39)	Y975*	probably null	Het
Akap9	C	T	5: 4,012,224 (GRCm39)	Q976*	probably null	Het
Bpnt1	T	C	1: 185,070,335 (GRCm39)	M9T	possibly damaging	Het
C4bp	C	A	1: 130,584,912 (GRCm39)	L41F	probably damaging	Het
Car3	A	T	3: 14,929,450 (GRCm39)	I59F		Het
Card11	T	C	5: 140,894,395 (GRCm39)	D78G	probably damaging	Het
Ccdc125	A	G	13: 100,820,876 (GRCm39)	D199G	possibly damaging	Het
Ccdc88c	T	C	12: 100,911,749 (GRCm39)	D695G	possibly damaging	Het
Cd48	T	A	1: 171,532,432 (GRCm39)	I237N	possibly damaging	Het
Cep295	T	C	9: 15,244,499 (GRCm39)	E1319G	probably damaging	Het
Col6a4	C	A	9: 105,945,271 (GRCm39)	A948S	probably benign	Het
Dcp1b	T	A	6: 119,196,993 (GRCm39)	Y563*	probably null	Het
Dcp2	C	T	18: 44,538,361 (GRCm39)	R173C	probably damaging	Het
Ddx59	T	A	1: 136,344,681 (GRCm39)	Y117*	probably null	Het
Dennd2a	A	T	6: 39,485,294 (GRCm39)	Y328*	probably null	Het
Dhx30	A	G	9: 109,916,712 (GRCm39)	L601P	probably damaging	Het
Dip2c	A	G	13: 9,709,431 (GRCm39)	T1424A	probably damaging	Het
Dlg2	A	G	7: 92,080,325 (GRCm39)	N733S	probably damaging	Het
Dnah5	C	T	15: 28,272,286 (GRCm39)	T1030M	probably benign	Het
Fgd5	A	T	6: 91,956,017 (GRCm39)	R3*	probably null	Het
Gbf1	A	T	19: 46,248,122 (GRCm39)	T300S	probably benign	Het
Gm5591	A	T	7: 38,219,721 (GRCm39)	L384Q	probably damaging	Het
Grm5	C	T	7: 87,765,484 (GRCm39)	A904V	probably benign	Het
Havcr1	T	A	11: 46,669,391 (GRCm39)	V290E	probably benign	Het
Hspb7	A	G	4: 141,149,241 (GRCm39)	D49G	possibly damaging	Het
Itpr2	A	T	6: 146,212,505 (GRCm39)	I1537N	probably damaging	Het
Kalrn	T	C	16: 33,809,188 (GRCm39)	T2567A	probably benign	Het
Kat8	T	C	7: 127,524,100 (GRCm39)	L380S	probably benign	Het
Krt1c	T	A	15: 101,719,792 (GRCm39)	Y626F	unknown	Het
Lrrk2	T	A	15: 91,636,388 (GRCm39)	L1454*	probably null	Het
Mgat4a	C	A	1: 37,529,436 (GRCm39)	V148F	probably damaging	Het
Mtg1	T	A	7: 139,727,212 (GRCm39)	Y238*	probably null	Het
Neb	T	A	2: 52,041,410 (GRCm39)	Q6807L	probably benign	Het
Nlrp9a	C	A	7: 26,260,178 (GRCm39)	F644L	probably benign	Het
Pcdhb15	A	G	18: 37,607,263 (GRCm39)	N165S		Het
Pcdhb5	C	A	18: 37,454,120 (GRCm39)	Q167K	probably damaging	Het
Per1	T	A	11: 68,998,855 (GRCm39)	M1142K	probably damaging	Het
Piezo1	A	G	8: 123,218,079 (GRCm39)	V1220A		Het
Pkd1l1	T	C	11: 8,820,091 (GRCm39)	T1713A		Het
Plec	C	A	15: 76,115,377 (GRCm39)	A66S	probably benign	Het
Ppfia4	C	A	1: 134,247,044 (GRCm39)	V559F	possibly damaging	Het
Ppil6	T	C	10: 41,379,024 (GRCm39)	S224P	probably damaging	Het
Ppp2r2d	T	A	7: 138,475,978 (GRCm39)	M262K	possibly damaging	Het
Prl7d1	A	T	13: 27,894,185 (GRCm39)	M127K	probably benign	Het
Rassf9	T	A	10: 102,381,577 (GRCm39)	C320S	probably benign	Het
Rbm19	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	5: 120,278,345 (GRCm39)		probably benign	Het
Rin3	T	A	12: 102,335,589 (GRCm39)	L420*	probably null	Het
Serpina3i	A	G	12: 104,234,730 (GRCm39)	T354A	probably benign	Het
Slc19a2	T	C	1: 164,076,895 (GRCm39)	V25A	probably damaging	Het
Slc1a2	G	A	2: 102,591,394 (GRCm39)	E375K	probably damaging	Het
Slfn9	T	A	11: 82,878,211 (GRCm39)	Y306F	possibly damaging	Het
Sparcl1	A	T	5: 104,241,030 (GRCm39)	D131E	possibly damaging	Het
Srl	A	T	16: 4,301,031 (GRCm39)	L680Q	probably damaging	Het
Sufu	G	A	19: 46,474,320 (GRCm39)	W465*	probably null	Het
Szt2	A	G	4: 118,248,151 (GRCm39)	L691P	probably damaging	Het
Tbc1d4	A	T	14: 101,703,096 (GRCm39)	I783N	probably damaging	Het
Tmem191	C	T	16: 17,094,526 (GRCm39)	R62*	probably null	Het
Tmem217	C	A	17: 29,745,690 (GRCm39)	M13I	possibly damaging	Het
Triobp	T	C	15: 78,844,266 (GRCm39)	S161P	probably damaging	Het
Trp53bp2	T	C	1: 182,273,864 (GRCm39)	V503A	possibly damaging	Het
Tspoap1	G	A	11: 87,652,082 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,582,347 (GRCm39)	T22849A	probably damaging	Het
Ugt2b37	A	T	5: 87,402,217 (GRCm39)	M138K	probably damaging	Het
Uimc1	A	T	13: 55,223,646 (GRCm39)	F209I	possibly damaging	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Wdr91	A	T	6: 34,861,302 (GRCm39)	N633K	possibly damaging	Het
Zfp618	T	C	4: 63,051,282 (GRCm39)	S688P	probably benign	Het

Other mutations in Serpinb9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Serpinb9b	APN	13	33,219,608 (GRCm39)	missense	probably benign	0.00
IGL00518:Serpinb9b	APN	13	33,223,553 (GRCm39)	missense	probably benign	0.17
IGL01939:Serpinb9b	APN	13	33,223,648 (GRCm39)	missense	probably damaging	0.99
IGL02472:Serpinb9b	APN	13	33,223,953 (GRCm39)	utr 3 prime	probably benign
IGL02632:Serpinb9b	APN	13	33,223,806 (GRCm39)	missense	probably benign	0.01
R0255:Serpinb9b	UTSW	13	33,222,003 (GRCm39)	missense	probably benign
R0667:Serpinb9b	UTSW	13	33,216,909 (GRCm39)	nonsense	probably null
R0699:Serpinb9b	UTSW	13	33,217,549 (GRCm39)	missense	probably benign	0.00
R0703:Serpinb9b	UTSW	13	33,216,964 (GRCm39)	missense	probably benign	0.29
R1605:Serpinb9b	UTSW	13	33,222,112 (GRCm39)	critical splice donor site	probably null
R1623:Serpinb9b	UTSW	13	33,213,548 (GRCm39)	missense	possibly damaging	0.61
R1815:Serpinb9b	UTSW	13	33,223,887 (GRCm39)	missense	probably damaging	1.00
R1920:Serpinb9b	UTSW	13	33,223,531 (GRCm39)	critical splice acceptor site	probably null
R1987:Serpinb9b	UTSW	13	33,213,542 (GRCm39)	missense	probably benign	0.07
R1988:Serpinb9b	UTSW	13	33,213,542 (GRCm39)	missense	probably benign	0.07
R3035:Serpinb9b	UTSW	13	33,213,529 (GRCm39)	missense	possibly damaging	0.81
R3683:Serpinb9b	UTSW	13	33,213,581 (GRCm39)	missense	probably damaging	0.98
R3758:Serpinb9b	UTSW	13	33,219,571 (GRCm39)	missense	probably damaging	1.00
R4677:Serpinb9b	UTSW	13	33,223,806 (GRCm39)	missense	probably damaging	0.97
R5412:Serpinb9b	UTSW	13	33,213,496 (GRCm39)	missense	probably benign	0.00
R5481:Serpinb9b	UTSW	13	33,222,076 (GRCm39)	missense	possibly damaging	0.93
R5672:Serpinb9b	UTSW	13	33,223,582 (GRCm39)	missense	probably benign	0.01
R5957:Serpinb9b	UTSW	13	33,223,831 (GRCm39)	missense	possibly damaging	0.81
R6797:Serpinb9b	UTSW	13	33,213,467 (GRCm39)	missense	possibly damaging	0.60
R7586:Serpinb9b	UTSW	13	33,223,743 (GRCm39)	missense	probably damaging	1.00
R8115:Serpinb9b	UTSW	13	33,219,531 (GRCm39)	missense	probably null	0.94
R8309:Serpinb9b	UTSW	13	33,223,554 (GRCm39)	missense	probably damaging	1.00
R8529:Serpinb9b	UTSW	13	33,223,543 (GRCm39)	missense	probably benign	0.04
R8802:Serpinb9b	UTSW	13	33,213,587 (GRCm39)	missense	probably benign
R8810:Serpinb9b	UTSW	13	33,213,452 (GRCm39)	missense	possibly damaging	0.83
R9020:Serpinb9b	UTSW	13	33,223,887 (GRCm39)	missense	probably damaging	1.00
R9310:Serpinb9b	UTSW	13	33,219,523 (GRCm39)	missense	probably benign
X0019:Serpinb9b	UTSW	13	33,219,514 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGAGTCCCAAGTTTCCCTGC -3'
(R):5'- CATTGCCCTTAAAGAAGTCTTACTG -3'

Sequencing Primer
(F):5'- GCTTCCGACCAATGAACCTTC -3'
(R):5'- CCCTTAAAGAAGTCTTACTGGAGGAG -3'

Posted On

2022-05-16