Mutagenetix > Incidental Mutation

Incidental Mutation 'R9129:Serpinb6b'

693497

Institutional Source

Beutler Lab

Gene Symbol

Serpinb6b

Ensembl Gene

ENSMUSG00000042842

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 6b

Synonyms

NK13, ovalbumin, Spi12

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R9129 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

32965209-32979067 bp(+) (GRCm38)

Type of Mutation

small deletion (2 aa in frame mutation)

DNA Base Change (assembly)

TTGTTTCTGT to TTGT at 32978156 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017184] [ENSMUST00000110293] [ENSMUST00000164541]

AlphaFold

O08804

Predicted Effect

probably benign
Transcript: ENSMUST00000017184

SMART Domains

Protein: ENSMUSP00000017184
Gene: ENSMUSG00000042842

Domain	Start	End	E-Value	Type
SERPIN	13	208	1.22e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110293

SMART Domains

Protein: ENSMUSP00000105922
Gene: ENSMUSG00000042842

Domain	Start	End	E-Value	Type
SERPIN	13	377	1.99e-174	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164541

Coding Region Coverage

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

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,546,260	S1238P	probably damaging	Het
Akap9	T	C	5: 4,069,089	L3532S	probably benign	Het
Ankfn1	A	G	11: 89,421,216	L701P		Het
Aph1b	A	C	9: 66,779,313	I225S	probably benign	Het
Asic4	A	T	1: 75,469,825	H337L	possibly damaging	Het
Atp8b3	T	C	10: 80,532,578	E187G	probably damaging	Het
Atp9a	A	G	2: 168,675,285	M376T	probably benign	Het
BC049730	A	G	7: 24,713,745	D163G	probably benign	Het
Bod1l	G	T	5: 41,818,877	T1698K	probably damaging	Het
Cacna2d4	T	C	6: 119,336,454		probably null	Het
Catsper1	C	A	19: 5,340,374		probably benign	Het
Cd248	T	C	19: 5,070,112	S663P	probably benign	Het
Crispld2	A	T	8: 120,010,749	M80L	possibly damaging	Het
Cwc22	G	A	2: 77,896,315	Q807*	probably null	Het
Cyp2a4	T	C	7: 26,314,711	Y438H	probably benign	Het
Cyp2b23	A	T	7: 26,681,764		probably benign	Het
Dsp	T	A	13: 38,193,150	V1637D	probably benign	Het
Elovl1	A	T	4: 118,431,959	Y227F	possibly damaging	Het
Ern1	T	C	11: 106,410,120	K483E	probably benign	Het
Fzd2	T	C	11: 102,605,639	F303S	probably benign	Het
Gm14548	C	A	7: 3,895,501		probably null	Het
Gm9944	A	T	4: 144,453,193	V42D	unknown	Het
Grik5	G	A	7: 25,068,004		probably benign	Het
Hdac4	T	C	1: 91,982,207	D445G	probably benign	Het
Hinfp	C	T	9: 44,297,765	R352H	probably damaging	Het
Hrnr	A	G	3: 93,323,970	H505R	unknown	Het
Hsfy2	C	T	1: 56,636,593	D262N	probably benign	Het
Hspa4	G	A	11: 53,283,636	Q186*	probably null	Het
Ipo8	T	C	6: 148,798,627	H584R	probably benign	Het
Krtap8-1	T	A	16: 89,487,748	R54*	probably null	Het
Lama4	T	A	10: 39,056,891	Y588N	probably benign	Het
Lekr1	T	A	3: 65,684,005	Y54*	probably null	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Lzts3	A	T	2: 130,634,945	Y528N	possibly damaging	Het
Mdn1	T	A	4: 32,676,812	V628E	probably benign	Het
Mgat5b	A	C	11: 116,968,522		probably benign	Het
Mical2	A	C	7: 112,271,382	K26T	possibly damaging	Het
Mllt10	C	T	2: 18,162,593	S443L	probably benign	Het
Mtf1	G	A	4: 124,805,120		probably benign	Het
Myom2	T	C	8: 15,104,068	F669L	probably damaging	Het
Nlrp9c	A	T	7: 26,378,003		probably null	Het
Nog	G	C	11: 89,301,776	S82W	probably damaging	Het
Ntrk2	A	G	13: 59,128,270	T795A	probably benign	Het
Olfr1032	A	T	2: 86,008,012	M79L		Het
Olfr1141	A	T	2: 87,753,704	F96L	probably benign	Het
Olfr1251	A	G	2: 89,667,586	F100S	probably damaging	Het
Olfr681	G	A	7: 105,122,016	M186I	probably benign	Het
Prl6a1	A	T	13: 27,318,081	I144L		Het
Rab11fip5	A	G	6: 85,340,910	V999A	probably benign	Het
Shisa6	A	G	11: 66,220,027	M296T	probably benign	Het
Slc18a1	T	A	8: 69,038,881	T494S	probably benign	Het
Slc22a29	T	G	19: 8,169,305	I378L	probably benign	Het
Slc23a2	C	T	2: 132,078,412		probably null	Het
Slc2a7	G	T	4: 150,158,544	R274L	probably benign	Het
Spta1	A	G	1: 174,231,345	T1949A	possibly damaging	Het
Szt2	A	G	4: 118,364,669	V3339A	unknown	Het
Tcp10a	G	A	17: 7,326,536	D87N	probably benign	Het
Tgm5	T	G	2: 121,046,789	Q638P	probably damaging	Het
Tmem145	A	G	7: 25,314,840	T460A	possibly damaging	Het
Ttc3	A	T	16: 94,384,349	M50L	probably benign	Het
Ush1c	A	G	7: 46,205,205	S708P	probably benign	Het
Vmn1r217	T	A	13: 23,114,706	T9S	probably benign	Het
Vmn1r26	T	C	6: 58,008,388	Y272C		Het
Vmn1r75	G	T	7: 11,880,586	A82S	probably benign	Het
Vmn2r117	T	A	17: 23,459,944	R769*	probably null	Het
Vps13b	C	A	15: 35,448,647	A589E	probably damaging	Het
Vps13d	G	A	4: 145,171,679	R304W		Het
Vps41	A	G	13: 18,827,605	E294G	probably benign	Het
Xpo7	T	C	14: 70,671,673	T802A	probably benign	Het
Ylpm1	T	A	12: 85,057,278	D2022E		Het
Zfp433	T	A	10: 81,719,890	C75*	probably null	Het
Zyg11a	A	T	4: 108,181,812	S737T	probably benign	Het

Other mutations in Serpinb6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Serpinb6b	APN	13	32971546	missense	probably benign	0.01
IGL01077:Serpinb6b	APN	13	32978066	missense	possibly damaging	0.68
IGL01553:Serpinb6b	APN	13	32974948	missense	probably damaging	1.00
IGL02981:Serpinb6b	APN	13	32971606	missense	probably benign	0.34
R0308:Serpinb6b	UTSW	13	32978237	missense	probably benign	0.09
R1568:Serpinb6b	UTSW	13	32974912	missense	probably damaging	1.00
R1692:Serpinb6b	UTSW	13	32974995	missense	probably damaging	1.00
R1763:Serpinb6b	UTSW	13	32978058	missense	probably damaging	1.00
R1917:Serpinb6b	UTSW	13	32978240	missense	probably benign
R1918:Serpinb6b	UTSW	13	32978240	missense	probably benign
R1919:Serpinb6b	UTSW	13	32978240	missense	probably benign
R1920:Serpinb6b	UTSW	13	32975008	missense	possibly damaging	0.47
R3032:Serpinb6b	UTSW	13	32968568	missense	possibly damaging	0.78
R4239:Serpinb6b	UTSW	13	32972263	missense	probably damaging	0.96
R5089:Serpinb6b	UTSW	13	32978150	missense	probably benign
R5503:Serpinb6b	UTSW	13	32977659	missense	possibly damaging	0.95
R5540:Serpinb6b	UTSW	13	32977558	nonsense	probably null
R6061:Serpinb6b	UTSW	13	32977994	missense	probably damaging	0.99
R6253:Serpinb6b	UTSW	13	32972272	missense	probably damaging	1.00
R7156:Serpinb6b	UTSW	13	32971615	missense	probably benign	0.09
R7248:Serpinb6b	UTSW	13	32977576	missense	probably benign	0.23
R7315:Serpinb6b	UTSW	13	32972257	missense	probably benign	0.41
R7424:Serpinb6b	UTSW	13	32968667	missense	probably damaging	0.99
R7547:Serpinb6b	UTSW	13	32974924	missense	probably benign	0.05
R7732:Serpinb6b	UTSW	13	32968607	missense	probably damaging	1.00
R7770:Serpinb6b	UTSW	13	32977529	missense	probably benign	0.05
R7802:Serpinb6b	UTSW	13	32971596
R8814:Serpinb6b	UTSW	13	32978304	missense	possibly damaging	0.94
R8966:Serpinb6b	UTSW	13	32978052	missense	probably damaging	1.00
R8988:Serpinb6b	UTSW	13	32978142	missense	probably benign	0.45
R9037:Serpinb6b	UTSW	13	32978015	nonsense	probably null
R9377:Serpinb6b	UTSW	13	32968511	start codon destroyed	probably null	1.00
R9415:Serpinb6b	UTSW	13	32975019	missense
R9632:Serpinb6b	UTSW	13	32971549	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AGCACTGACCTAAGATCTTGAACTG -3'
(R):5'- ACACAATCCCACTGGTCCTG -3'

Sequencing Primer
(F):5'- CTTGAACTGTCTTCTAGGTGGAAAAG -3'
(R):5'- TCCTGCTGTGTTGGATGAAGAAAAG -3'

Posted On

2022-01-20