Mutagenetix > Incidental Mutation

Incidental Mutation 'R8988:Serpinb6b'

684252

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: 0.097) question?

Stock #

R8988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32965209-32979067 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32978142 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 308 (A308E)

Ref Sequence

ENSEMBL: ENSMUSP00000105922 (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
AA Change: A308E

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105922
Gene: ENSMUSG00000042842
AA Change: A308E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164541
AA Change: A189E

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

96% (81/84)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	A	G	3: 88,699,979	N330S	probably benign	Het
Abi2	C	T	1: 60,450,092	T291I	probably benign	Het
Aox1	A	C	1: 58,049,466	D137A	possibly damaging	Het
Apbb2	T	C	5: 66,452,101	K68E	probably damaging	Het
Arf3	A	T	15: 98,741,052	M108K	probably benign	Het
Atg2b	T	A	12: 105,617,129	I2058F	probably damaging	Het
Bhlhe40	C	T	6: 108,662,557	L99F	probably damaging	Het
Cyp2b10	G	A	7: 25,926,245	R500H	probably damaging	Het
Dlc1	C	T	8: 36,572,843	E937K	probably damaging	Het
Dll3	A	T	7: 28,296,368	V336D	possibly damaging	Het
Dync2h1	A	G	9: 7,037,727	F3377L	probably benign	Het
Eef1d	A	G	15: 75,896,311	Y561H	probably damaging	Het
Epb41l1	C	A	2: 156,521,671	T700K	probably benign	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Ephb2	C	A	4: 136,675,458	G501C	probably benign	Het
Erbb3	T	C	10: 128,570,161	Y1129C	probably damaging	Het
Fbn1	C	T	2: 125,370,806	V799M	possibly damaging	Het
Fbxo9	G	A	9: 78,084,651	P353S	probably benign	Het
Ggt1	T	G	10: 75,576,222	V100G	probably benign	Het
Gm11639	T	G	11: 105,020,526	V4544G	probably benign	Het
Gm45861	T	C	8: 27,542,503	M885T	unknown	Het
Gm609	T	C	16: 45,417,908	H294R	probably benign	Het
Grin2d	A	T	7: 45,834,001	Y917*	probably null	Het
Hectd4	T	A	5: 121,277,756	V540D	possibly damaging	Het
Helz	T	A	11: 107,604,253	I351K	probably damaging	Het
Ighv2-6-8	A	G	12: 113,796,360	V43A	probably damaging	Het
Igkv9-129	T	A	6: 67,840,122	I70N	probably damaging	Het
Il18	A	T	9: 50,577,878	D69V	probably damaging	Het
Kcnh7	T	A	2: 62,721,865	E927D		Het
Kcnt2	T	A	1: 140,428,849	V342E	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Krt18	C	G	15: 102,029,527	A153G	probably damaging	Het
Lmntd2	A	T	7: 141,212,064		probably benign	Het
Lrrc26	G	T	2: 25,290,274	A96S	probably benign	Het
Map3k11	A	T	19: 5,702,138	S783C	probably damaging	Het
Mib2	G	A	4: 155,656,272	L632F	possibly damaging	Het
Mical2	A	C	7: 112,311,454	D277A	possibly damaging	Het
Mtr	A	T	13: 12,235,479	F339L	probably benign	Het
Musk	T	C	4: 58,354,032	F362L	probably benign	Het
Ncor1	G	A	11: 62,343,045	Q444*	probably null	Het
Nek4	T	C	14: 30,963,967	S279P		Het
Nell1	C	T	7: 50,560,795	T348I	unknown	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nrip1	T	C	16: 76,292,014	H885R	probably damaging	Het
Olfr1382	C	A	11: 49,535,201	N5K	probably damaging	Het
Olfr214	A	G	6: 116,557,294	T290A	possibly damaging	Het
Olfr448	T	A	6: 42,897,267	V272D		Het
Olfr525	G	A	7: 140,323,025	G109R	possibly damaging	Het
Olfr784	T	C	10: 129,388,371	V246A	probably damaging	Het
Olfr822	T	A	10: 130,074,653	V81D	possibly damaging	Het
Otog	A	G	7: 46,310,147	D720G	probably damaging	Het
P3h3	C	A	6: 124,857,601	Q29H	possibly damaging	Het
Parn	A	G	16: 13,648,417		probably null	Het
Pcnt	C	A	10: 76,409,573	E1077*	probably null	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pigb	A	G	9: 73,022,294	W336R	probably damaging	Het
Pkdrej	A	T	15: 85,816,337	S1799R	probably damaging	Het
Pnpla6	G	T	8: 3,517,401	M86I	possibly damaging	Het
Prickle2	T	C	6: 92,458,639	K50E	possibly damaging	Het
Psg21	A	G	7: 18,652,464	V199A	probably benign	Het
Reep3	T	C	10: 67,036,007		probably null	Het
Reln	T	C	5: 21,899,157	D3272G	probably damaging	Het
Rps6ka4	A	G	19: 6,831,299	V526A	possibly damaging	Het
Sel1l3	T	C	5: 53,123,429	E911G	probably damaging	Het
Slc26a4	A	G	12: 31,522,524	V746A	probably benign	Het
Slc4a3	T	G	1: 75,551,313	M402R	probably damaging	Het
Slc9b1	A	T	3: 135,373,139	T186S	possibly damaging	Het
Slk	A	G	19: 47,620,273	Q555R	probably benign	Het
Smc2	T	A	4: 52,475,100	D925E	probably benign	Het
Stat5a	A	T	11: 100,883,938	T758S	unknown	Het
Sulf1	A	G	1: 12,836,275	S514G	probably benign	Het
Tcp11l1	T	A	2: 104,706,508	N4I	probably damaging	Het
Tex2	A	T	11: 106,511,905	I1047K	unknown	Het
Tmem184b	A	G	15: 79,377,064	V114A	possibly damaging	Het
Trmt11	A	G	10: 30,591,031	V95A	probably benign	Het
Trp53bp2	A	G	1: 182,440,868	D169G	possibly damaging	Het
Ttc41	T	A	10: 86,713,735	N264K	possibly damaging	Het
Uba2	A	C	7: 34,154,562	S318R	probably benign	Het
Wapl	T	A	14: 34,729,182	N724K	probably damaging	Het
Wfdc9	T	A	2: 164,651,751	I5F	probably damaging	Het
Zan	C	T	5: 137,408,301	D3686N	unknown	Het
Zfp618	A	T	4: 63,094,471	Y140F	probably benign	Het
Zfp790	A	G	7: 29,828,168	T93A	probably benign	Het
Zfp979	A	C	4: 147,613,527	F242V	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
R9037:Serpinb6b	UTSW	13	32978015	nonsense	probably null
R9129:Serpinb6b	UTSW	13	32978156	small deletion	probably benign
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'- TGACCTAAGATCTTGAACTGTCTTC -3'
(R):5'- ACACAATCCCACTGGTCCTG -3'

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

Posted On

2021-10-11