Mutagenetix > Incidental Mutation

Incidental Mutation 'R5089:Serpinb6b'

387654

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

042678-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R5089 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33149192-33163050 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33162133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 192 (E192K)

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
AA Change: E311K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105922
Gene: ENSMUSG00000042842
AA Change: E311K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164541
AA Change: E192K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	C	8: 117,698,672 (GRCm39)	N145S	possibly damaging	Het
Acp2	T	C	2: 91,042,267 (GRCm39)		probably benign	Het
Adgrf2	G	A	17: 43,020,988 (GRCm39)	A612V	probably benign	Het
Bltp1	T	A	3: 37,041,651 (GRCm39)	D2676E	probably benign	Het
Cct3	T	G	3: 88,208,150 (GRCm39)	M46R	probably damaging	Het
Cdc123	T	C	2: 5,809,811 (GRCm39)	D200G	probably benign	Het
Cdh9	T	A	15: 16,778,362 (GRCm39)	F59Y	probably damaging	Het
Cluh	A	G	11: 74,551,198 (GRCm39)	E349G	probably damaging	Het
Col16a1	C	T	4: 129,972,988 (GRCm39)	T643M	probably benign	Het
Col5a1	G	A	2: 27,908,614 (GRCm39)	W67*	probably null	Het
Crbn	T	C	6: 106,758,679 (GRCm39)	H381R	possibly damaging	Het
Crim1	A	G	17: 78,681,519 (GRCm39)	D991G	probably damaging	Het
Dhx16	A	T	17: 36,194,981 (GRCm39)	M503L	probably damaging	Het
Dthd1	A	G	5: 63,007,248 (GRCm39)	T650A	probably benign	Het
Etfa	T	A	9: 55,396,150 (GRCm39)	K139*	probably null	Het
Flnc	T	C	6: 29,447,812 (GRCm39)	I1205T	probably damaging	Het
Fzd6	T	A	15: 38,870,875 (GRCm39)	C32S	probably damaging	Het
Gm1110	T	A	9: 26,793,683 (GRCm39)	D515V	probably damaging	Het
Gm7676	T	C	8: 13,946,401 (GRCm39)		noncoding transcript	Het
Gpr157	T	C	4: 150,186,750 (GRCm39)	S293P	possibly damaging	Het
Hc	T	C	2: 34,914,902 (GRCm39)	D810G	probably benign	Het
Helz2	T	C	2: 180,876,942 (GRCm39)	H1184R	probably benign	Het
Hoxc5	A	T	15: 102,922,487 (GRCm39)		probably benign	Het
Iah1	C	T	12: 21,373,309 (GRCm39)	S196L	possibly damaging	Het
Il5	C	T	11: 53,612,655 (GRCm39)	T55I	possibly damaging	Het
Kras	T	C	6: 145,170,869 (GRCm39)	K169E	probably benign	Het
Larp1	C	A	11: 57,938,693 (GRCm39)	T492K	possibly damaging	Het
Lgr5	T	C	10: 115,314,328 (GRCm39)	D203G	probably damaging	Het
Lpcat2	G	A	8: 93,606,071 (GRCm39)	V241M	probably damaging	Het
Mpeg1	G	A	19: 12,440,361 (GRCm39)	M606I	probably benign	Het
Ms4a1	G	A	19: 11,236,176 (GRCm39)	P4S	probably benign	Het
Nat10	A	T	2: 103,587,488 (GRCm39)		probably benign	Het
Ncaph2	T	A	15: 89,240,148 (GRCm39)		probably null	Het
Nfat5	T	A	8: 108,078,070 (GRCm39)	V403D	probably damaging	Het
Or2y10	T	A	11: 49,455,240 (GRCm39)	M164K	possibly damaging	Het
Or4c109	A	G	2: 88,818,516 (GRCm39)	F10S	probably damaging	Het
Pax7	T	C	4: 139,557,576 (GRCm39)	H65R	probably damaging	Het
Phf20	C	A	2: 156,144,782 (GRCm39)	H797N	probably benign	Het
Pkhd1l1	T	A	15: 44,455,283 (GRCm39)	S4015T	probably benign	Het
Prdm5	C	T	6: 65,833,074 (GRCm39)	H148Y	probably benign	Het
Prpf8	A	G	11: 75,400,054 (GRCm39)		probably null	Het
Rangap1	A	C	15: 81,594,664 (GRCm39)	D388E	probably benign	Het
Sardh	A	G	2: 27,129,625 (GRCm39)		probably null	Het
Shfl	A	T	9: 20,780,212 (GRCm39)	M1L	probably benign	Het
Skor1	A	G	9: 63,053,205 (GRCm39)	S216P	probably damaging	Het
Slc51a	A	G	16: 32,296,364 (GRCm39)		probably null	Het
Smarcb1	T	C	10: 75,751,013 (GRCm39)	T74A	probably benign	Het
Spg11	A	T	2: 121,945,198 (GRCm39)	Y107*	probably null	Het
Spmip5	A	T	19: 58,774,678 (GRCm39)	L176H	probably damaging	Het
Stk25	T	A	1: 93,552,330 (GRCm39)	K350M	probably benign	Het
Syne1	C	T	10: 5,355,444 (GRCm39)	W379*	probably null	Het
Taco1	A	T	11: 105,960,437 (GRCm39)	E126V	probably benign	Het
Tbc1d12	T	A	19: 38,905,232 (GRCm39)	L649*	probably null	Het
Trpm3	G	A	19: 22,744,120 (GRCm39)	G238R	probably damaging	Het
Yy1	C	A	12: 108,759,663 (GRCm39)	Q109K	probably damaging	Het

Other mutations in Serpinb6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Serpinb6b	APN	13	33,155,529 (GRCm39)	missense	probably benign	0.01
IGL01077:Serpinb6b	APN	13	33,162,049 (GRCm39)	missense	possibly damaging	0.68
IGL01553:Serpinb6b	APN	13	33,158,931 (GRCm39)	missense	probably damaging	1.00
IGL02981:Serpinb6b	APN	13	33,155,589 (GRCm39)	missense	probably benign	0.34
R0308:Serpinb6b	UTSW	13	33,162,220 (GRCm39)	missense	probably benign	0.09
R1568:Serpinb6b	UTSW	13	33,158,895 (GRCm39)	missense	probably damaging	1.00
R1692:Serpinb6b	UTSW	13	33,158,978 (GRCm39)	missense	probably damaging	1.00
R1763:Serpinb6b	UTSW	13	33,162,041 (GRCm39)	missense	probably damaging	1.00
R1917:Serpinb6b	UTSW	13	33,162,223 (GRCm39)	missense	probably benign
R1918:Serpinb6b	UTSW	13	33,162,223 (GRCm39)	missense	probably benign
R1919:Serpinb6b	UTSW	13	33,162,223 (GRCm39)	missense	probably benign
R1920:Serpinb6b	UTSW	13	33,158,991 (GRCm39)	missense	possibly damaging	0.47
R3032:Serpinb6b	UTSW	13	33,152,551 (GRCm39)	missense	possibly damaging	0.78
R4239:Serpinb6b	UTSW	13	33,156,246 (GRCm39)	missense	probably damaging	0.96
R5503:Serpinb6b	UTSW	13	33,161,642 (GRCm39)	missense	possibly damaging	0.95
R5540:Serpinb6b	UTSW	13	33,161,541 (GRCm39)	nonsense	probably null
R6061:Serpinb6b	UTSW	13	33,161,977 (GRCm39)	missense	probably damaging	0.99
R6253:Serpinb6b	UTSW	13	33,156,255 (GRCm39)	missense	probably damaging	1.00
R7156:Serpinb6b	UTSW	13	33,155,598 (GRCm39)	missense	probably benign	0.09
R7248:Serpinb6b	UTSW	13	33,161,559 (GRCm39)	missense	probably benign	0.23
R7315:Serpinb6b	UTSW	13	33,156,240 (GRCm39)	missense	probably benign	0.41
R7424:Serpinb6b	UTSW	13	33,152,650 (GRCm39)	missense	probably damaging	0.99
R7547:Serpinb6b	UTSW	13	33,158,907 (GRCm39)	missense	probably benign	0.05
R7732:Serpinb6b	UTSW	13	33,152,590 (GRCm39)	missense	probably damaging	1.00
R7770:Serpinb6b	UTSW	13	33,161,512 (GRCm39)	missense	probably benign	0.05
R7802:Serpinb6b	UTSW	13	33,155,579 (GRCm39)
R8814:Serpinb6b	UTSW	13	33,162,287 (GRCm39)	missense	possibly damaging	0.94
R8966:Serpinb6b	UTSW	13	33,162,035 (GRCm39)	missense	probably damaging	1.00
R8988:Serpinb6b	UTSW	13	33,162,125 (GRCm39)	missense	probably benign	0.45
R9037:Serpinb6b	UTSW	13	33,161,998 (GRCm39)	nonsense	probably null
R9129:Serpinb6b	UTSW	13	33,162,139 (GRCm39)	small deletion	probably benign
R9377:Serpinb6b	UTSW	13	33,152,494 (GRCm39)	start codon destroyed	probably null	1.00
R9415:Serpinb6b	UTSW	13	33,159,002 (GRCm39)	missense
R9632:Serpinb6b	UTSW	13	33,155,532 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

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

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

Posted On

2016-06-06