Mutagenetix > Incidental Mutation

Incidental Mutation 'R1763:Serpinb6b'

193220

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

039795-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R1763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32965209-32979067 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32978058 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 280 (E280G)

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 damaging
Transcript: ENSMUST00000110293
AA Change: E280G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105922
Gene: ENSMUSG00000042842
AA Change: E280G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164541
AA Change: E161G

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.2724

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

98% (85/87)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 122,163,830 (GRCm38)	T772S	probably damaging	Het
Abca4	G	A	3: 122,110,681 (GRCm38)	V794M	probably benign	Het
Acox3	G	A	5: 35,608,339 (GRCm38)		probably null	Het
Adamts17	A	G	7: 67,147,715 (GRCm38)	N1060S	probably damaging	Het
Akap8l	C	T	17: 32,332,483 (GRCm38)	R511H	probably damaging	Het
Als2	T	C	1: 59,174,991 (GRCm38)	Y1346C	probably benign	Het
Apol10b	A	T	15: 77,585,015 (GRCm38)	F321I	probably benign	Het
Atp5f1	A	G	3: 105,951,589 (GRCm38)		probably null	Het
Bloc1s5	A	G	13: 38,619,084 (GRCm38)		probably benign	Het
Btbd9	T	C	17: 30,334,297 (GRCm38)	N397S	possibly damaging	Het
Cacna1d	A	G	14: 30,099,196 (GRCm38)	V1121A	probably benign	Het
Cad	G	A	5: 31,060,951 (GRCm38)	V460I	probably damaging	Het
Caprin2	A	T	6: 148,843,121 (GRCm38)	D935E	probably damaging	Het
Ccdc150	A	T	1: 54,354,636 (GRCm38)	K686N	probably benign	Het
Ccnt2	T	C	1: 127,799,406 (GRCm38)	F186L	possibly damaging	Het
Cd5l	G	A	3: 87,367,880 (GRCm38)		probably null	Het
Chrna7	A	G	7: 63,099,252 (GRCm38)	V494A	probably benign	Het
Clec2i	T	G	6: 128,895,425 (GRCm38)	Y198*	probably null	Het
Col22a1	A	G	15: 72,007,176 (GRCm38)	V44A	probably damaging	Het
Cspg4	T	A	9: 56,886,979 (GRCm38)	I666N	probably damaging	Het
Cyp3a16	A	T	5: 145,465,031 (GRCm38)		probably null	Het
Dlk1	G	T	12: 109,458,119 (GRCm38)	C102F	probably damaging	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 55,080,176 (GRCm38)		probably benign	Het
Dscc1	T	A	15: 55,084,139 (GRCm38)	H215L	probably damaging	Het
Dus1l	C	G	11: 120,795,671 (GRCm38)	G15R	probably benign	Het
Eps8l1	G	T	7: 4,471,823 (GRCm38)	V268L	probably benign	Het
F2	A	C	2: 91,634,906 (GRCm38)	C104W	probably damaging	Het
F5	C	A	1: 164,192,535 (GRCm38)	Q860K	probably benign	Het
Fmn2	T	C	1: 174,502,266 (GRCm38)	L74P	unknown	Het
Frmd6	G	A	12: 70,893,622 (GRCm38)	R347Q	possibly damaging	Het
Gabbr1	T	G	17: 37,054,767 (GRCm38)	S158A	probably damaging	Het
Galc	T	C	12: 98,234,266 (GRCm38)	N295S	probably damaging	Het
Gm436	A	G	4: 144,669,959 (GRCm38)	V401A	probably benign	Het
Gm6408	A	T	5: 146,482,322 (GRCm38)	N49I	probably damaging	Het
Grm1	T	A	10: 11,079,866 (GRCm38)	T225S	possibly damaging	Het
Grm8	C	T	6: 27,285,867 (GRCm38)	V849I	possibly damaging	Het
Hmcn2	A	G	2: 31,314,590 (GRCm38)	D59G	probably damaging	Het
Iars	G	A	13: 49,723,077 (GRCm38)		probably null	Het
Ifi27	C	T	12: 103,437,682 (GRCm38)	A127V	possibly damaging	Het
Ikbip	A	G	10: 91,096,481 (GRCm38)	N329S	probably damaging	Het
Ikbke	T	C	1: 131,265,877 (GRCm38)	T479A	probably benign	Het
Krt12	T	A	11: 99,416,060 (GRCm38)	N472I	probably damaging	Het
Lmnb2	A	T	10: 80,907,191 (GRCm38)	L193Q	probably damaging	Het
Lrriq4	T	C	3: 30,650,252 (GRCm38)	V128A	probably benign	Het
Map4k4	C	A	1: 40,000,757 (GRCm38)		probably benign	Het
Mtmr7	T	C	8: 40,551,811 (GRCm38)	T575A	probably benign	Het
Myh13	G	A	11: 67,334,576 (GRCm38)	A256T	probably benign	Het
Napepld	A	G	5: 21,683,410 (GRCm38)	Y14H	probably benign	Het
Npr1	T	C	3: 90,459,337 (GRCm38)	T552A	probably damaging	Het
Nudt15	A	G	14: 73,521,647 (GRCm38)	F127S	probably benign	Het
Nwd2	T	A	5: 63,808,271 (GRCm38)	S1733T	probably benign	Het
Olfr1189	A	G	2: 88,592,436 (GRCm38)	I211V	probably benign	Het
Olfr1257	G	A	2: 89,881,129 (GRCm38)	G101E	probably damaging	Het
Olfr1348	T	G	7: 6,501,441 (GRCm38)	I262L	probably benign	Het
Olfr907	A	G	9: 38,499,038 (GRCm38)	Y123C	probably damaging	Het
Olfr96	T	C	17: 37,225,430 (GRCm38)	F102L	probably benign	Het
Paqr7	A	T	4: 134,507,098 (GRCm38)	I89F	probably benign	Het
Pidd1	C	A	7: 141,439,630 (GRCm38)	V706L	probably benign	Het
Polr3c	A	T	3: 96,713,595 (GRCm38)	I469N	probably damaging	Het
Ppip5k1	A	G	2: 121,348,547 (GRCm38)	Y233H	probably damaging	Het
Psmc3	A	G	2: 91,055,995 (GRCm38)	T166A	possibly damaging	Het
Ptchd3	A	T	11: 121,842,542 (GRCm38)	I753L	probably benign	Het
Rad21	T	C	15: 51,978,170 (GRCm38)	K50R	probably damaging	Het
Rad54b	A	G	4: 11,604,989 (GRCm38)	E479G	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242 (GRCm38)	R326Q	probably damaging	Het
Rgs20	C	T	1: 4,910,640 (GRCm38)	R154Q	probably damaging	Het
Sbf1	T	C	15: 89,294,425 (GRCm38)	D1449G	probably damaging	Het
Sema4g	C	T	19: 45,001,605 (GRCm38)	R708*	probably null	Het
Sept9	T	C	11: 117,290,428 (GRCm38)	I18T	probably benign	Het
Slamf6	T	C	1: 171,942,587 (GRCm38)		probably benign	Het
Slc6a21	G	A	7: 45,287,734 (GRCm38)	W554*	probably null	Het
Slco1a4	A	C	6: 141,812,731 (GRCm38)	I518R	probably benign	Het
Stab1	T	A	14: 31,168,416 (GRCm38)	Q26L	probably benign	Het
Stox1	A	G	10: 62,667,965 (GRCm38)	F104L	probably damaging	Het
Suco	T	C	1: 161,834,949 (GRCm38)	K638E	possibly damaging	Het
Synpo	T	C	18: 60,602,784 (GRCm38)	K458E	probably damaging	Het
Szt2	A	T	4: 118,372,368 (GRCm38)	W2820R	unknown	Het
Tmtc1	C	A	6: 148,294,618 (GRCm38)	G499W	probably damaging	Het
Tonsl	A	C	15: 76,638,066 (GRCm38)	S242R	probably damaging	Het
Trpc4	G	T	3: 54,194,822 (GRCm38)	S47I	possibly damaging	Het
Zfp106	G	A	2: 120,520,428 (GRCm38)	R1581C	probably benign	Het
Zfp27	A	G	7: 29,895,376 (GRCm38)	L388P	possibly damaging	Het

Other mutations in Serpinb6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Serpinb6b	APN	13	32,971,546 (GRCm38)	missense	probably benign	0.01
IGL01077:Serpinb6b	APN	13	32,978,066 (GRCm38)	missense	possibly damaging	0.68
IGL01553:Serpinb6b	APN	13	32,974,948 (GRCm38)	missense	probably damaging	1.00
IGL02981:Serpinb6b	APN	13	32,971,606 (GRCm38)	missense	probably benign	0.34
R0308:Serpinb6b	UTSW	13	32,978,237 (GRCm38)	missense	probably benign	0.09
R1568:Serpinb6b	UTSW	13	32,974,912 (GRCm38)	missense	probably damaging	1.00
R1692:Serpinb6b	UTSW	13	32,974,995 (GRCm38)	missense	probably damaging	1.00
R1917:Serpinb6b	UTSW	13	32,978,240 (GRCm38)	missense	probably benign
R1918:Serpinb6b	UTSW	13	32,978,240 (GRCm38)	missense	probably benign
R1919:Serpinb6b	UTSW	13	32,978,240 (GRCm38)	missense	probably benign
R1920:Serpinb6b	UTSW	13	32,975,008 (GRCm38)	missense	possibly damaging	0.47
R3032:Serpinb6b	UTSW	13	32,968,568 (GRCm38)	missense	possibly damaging	0.78
R4239:Serpinb6b	UTSW	13	32,972,263 (GRCm38)	missense	probably damaging	0.96
R5089:Serpinb6b	UTSW	13	32,978,150 (GRCm38)	missense	probably benign
R5503:Serpinb6b	UTSW	13	32,977,659 (GRCm38)	missense	possibly damaging	0.95
R5540:Serpinb6b	UTSW	13	32,977,558 (GRCm38)	nonsense	probably null
R6061:Serpinb6b	UTSW	13	32,977,994 (GRCm38)	missense	probably damaging	0.99
R6253:Serpinb6b	UTSW	13	32,972,272 (GRCm38)	missense	probably damaging	1.00
R7156:Serpinb6b	UTSW	13	32,971,615 (GRCm38)	missense	probably benign	0.09
R7248:Serpinb6b	UTSW	13	32,977,576 (GRCm38)	missense	probably benign	0.23
R7315:Serpinb6b	UTSW	13	32,972,257 (GRCm38)	missense	probably benign	0.41
R7424:Serpinb6b	UTSW	13	32,968,667 (GRCm38)	missense	probably damaging	0.99
R7547:Serpinb6b	UTSW	13	32,974,924 (GRCm38)	missense	probably benign	0.05
R7732:Serpinb6b	UTSW	13	32,968,607 (GRCm38)	missense	probably damaging	1.00
R7770:Serpinb6b	UTSW	13	32,977,529 (GRCm38)	missense	probably benign	0.05
R7802:Serpinb6b	UTSW	13	32,971,596 (GRCm38)
R8814:Serpinb6b	UTSW	13	32,978,304 (GRCm38)	missense	possibly damaging	0.94
R8966:Serpinb6b	UTSW	13	32,978,052 (GRCm38)	missense	probably damaging	1.00
R8988:Serpinb6b	UTSW	13	32,978,142 (GRCm38)	missense	probably benign	0.45
R9037:Serpinb6b	UTSW	13	32,978,015 (GRCm38)	nonsense	probably null
R9129:Serpinb6b	UTSW	13	32,978,156 (GRCm38)	small deletion	probably benign
R9377:Serpinb6b	UTSW	13	32,968,511 (GRCm38)	start codon destroyed	probably null	1.00
R9415:Serpinb6b	UTSW	13	32,975,019 (GRCm38)	missense
R9632:Serpinb6b	UTSW	13	32,971,549 (GRCm38)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACACTTCCCTGGGCATACAGAGTC -3'
(R):5'- AATCCCACTGGTCCTGCTGTGTTG -3'

Sequencing Primer
(F):5'- GGCATACAGAGTCTCCCTCAG -3'
(R):5'- TACACCTAAAACCTATATTGGCTGC -3'

Posted On

2014-05-23