Mutagenetix > Incidental Mutation

Incidental Mutation 'R1918:Serpinb6b'

212763

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

039936-MU

Accession Numbers

Essential gene?

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

Stock #

R1918 (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 32978240 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 222 (I222V)

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: I341V

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

SMART Domains

Protein: ENSMUSP00000105922
Gene: ENSMUSG00000042842
AA Change: I341V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164541
AA Change: I222V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.5%

Validation Efficiency

97% (113/116)

Allele List at MGI

Other mutations in this stock

Total: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110035E14Rik	T	C	1: 9,601,627 (GRCm38)	F15S	probably damaging	Het
4930432E11Rik	T	G	7: 29,574,089 (GRCm38)		noncoding transcript	Het
4930435E12Rik	A	G	16: 38,828,088 (GRCm38)	Y220H	possibly damaging	Het
4931440F15Rik	A	G	11: 29,824,039 (GRCm38)	S473P	probably benign	Het
A2m	T	C	6: 121,644,936 (GRCm38)	S314P	probably benign	Het
Abcc9	T	A	6: 142,697,682 (GRCm38)	I47F	probably damaging	Het
Abcd2	C	T	15: 91,191,481 (GRCm38)	R43H	probably benign	Het
Adgre5	A	G	8: 83,729,109 (GRCm38)	V190A	probably damaging	Het
Aen	C	T	7: 78,906,029 (GRCm38)	H242Y	possibly damaging	Het
Arfgef1	C	T	1: 10,199,878 (GRCm38)	A349T	probably benign	Het
Arhgap10	T	C	8: 77,259,079 (GRCm38)	I698V	probably benign	Het
Arpp21	C	T	9: 112,119,178 (GRCm38)		probably benign	Het
Atp10a	T	C	7: 58,827,935 (GRCm38)	I1294T	possibly damaging	Het
Atp13a2	T	C	4: 140,996,371 (GRCm38)	Y337H	possibly damaging	Het
BC147527	T	C	13: 120,308,222 (GRCm38)	L26P	probably damaging	Het
Bsn	C	T	9: 108,107,573 (GRCm38)	G3094D	unknown	Het
Cadm2	G	A	16: 66,747,384 (GRCm38)		probably benign	Het
Cadps	T	C	14: 12,546,372 (GRCm38)	M495V	probably damaging	Het
Cass4	A	G	2: 172,427,339 (GRCm38)	H447R	possibly damaging	Het
Ccdc124	C	A	8: 70,868,944 (GRCm38)	R108L	probably benign	Het
Ccdc141	C	T	2: 77,014,703 (GRCm38)	R1340Q	probably benign	Het
Ccdc148	T	G	2: 58,982,899 (GRCm38)	R299S	probably damaging	Het
Ccdc36	T	A	9: 108,412,985 (GRCm38)	H140L	probably benign	Het
Cd300lg	A	G	11: 102,054,110 (GRCm38)	E382G	probably damaging	Het
Cd36	A	T	5: 17,797,036 (GRCm38)	C322*	probably null	Het
Celsr2	C	T	3: 108,398,650 (GRCm38)	G2046D	probably benign	Het
Clasrp	C	T	7: 19,585,263 (GRCm38)	W492*	probably null	Het
Cmtr1	T	C	17: 29,679,009 (GRCm38)	V154A	possibly damaging	Het
Ctnnb1	C	T	9: 120,951,034 (GRCm38)	P128S	possibly damaging	Het
Cyp11a1	A	G	9: 58,026,757 (GRCm38)	I496V	probably damaging	Het
Disp2	G	A	2: 118,791,927 (GRCm38)	V1047I	probably benign	Het
Eps8l2	T	C	7: 141,361,724 (GRCm38)	V636A	probably damaging	Het
Fars2	T	C	13: 36,204,546 (GRCm38)	L6P	probably damaging	Het
Fnip1	C	T	11: 54,480,684 (GRCm38)	T177I	probably damaging	Het
Fut8	G	T	12: 77,332,218 (GRCm38)	R31L	probably benign	Het
G6pd2	T	C	5: 61,810,321 (GRCm38)	F480L	probably benign	Het
Glipr1l2	T	A	10: 112,092,645 (GRCm38)	C148*	probably null	Het
Gm10142	G	A	10: 77,715,987 (GRCm38)	V61M	probably benign	Het
Gm12169	A	G	11: 46,528,531 (GRCm38)	D58G	possibly damaging	Het
Gm5134	T	A	10: 75,976,346 (GRCm38)	M145K	possibly damaging	Het
Gm853	A	T	4: 130,211,393 (GRCm38)	V328D	probably benign	Het
Gnpda1	T	C	18: 38,333,190 (GRCm38)		probably null	Het
Gpc2	T	C	5: 138,278,379 (GRCm38)	T162A	probably benign	Het
Gtf2h4	G	A	17: 35,670,198 (GRCm38)	L246F	possibly damaging	Het
Hal	C	T	10: 93,496,607 (GRCm38)	P294S	probably damaging	Het
Hectd3	C	T	4: 117,000,343 (GRCm38)	A573V	possibly damaging	Het
Hephl1	T	A	9: 15,076,818 (GRCm38)	I665F	probably benign	Het
Herc1	T	C	9: 66,476,126 (GRCm38)		probably null	Het
Hif1an	A	G	19: 44,571,112 (GRCm38)		probably null	Het
Il12rb1	T	A	8: 70,813,680 (GRCm38)	M223K	probably benign	Het
Ilf3	C	T	9: 21,393,714 (GRCm38)	T201M	probably damaging	Het
Inpp5f	T	C	7: 128,663,969 (GRCm38)		probably benign	Het
Jcad	T	C	18: 4,674,292 (GRCm38)	Y685H	probably damaging	Het
Kcnj1	C	A	9: 32,396,738 (GRCm38)	Q153K	probably benign	Het
Kctd18	A	C	1: 57,959,220 (GRCm38)	H73Q	probably damaging	Het
Klhl36	T	A	8: 119,876,724 (GRCm38)	W573R	probably damaging	Het
Lepr	A	G	4: 101,772,836 (GRCm38)	T583A	probably benign	Het
Ltbp4	G	A	7: 27,337,569 (GRCm38)		probably benign	Het
Mapt	A	T	11: 104,298,499 (GRCm38)	E114D	probably benign	Het
Mib1	T	A	18: 10,740,972 (GRCm38)		probably null	Het
Mthfd1	G	T	12: 76,314,976 (GRCm38)	A119S	probably damaging	Het
Mylk4	A	T	13: 32,724,853 (GRCm38)	D90E	probably benign	Het
Nceh1	T	G	3: 27,183,175 (GRCm38)	L33R	probably damaging	Het
Nfat5	T	C	8: 107,366,236 (GRCm38)	I91T	probably damaging	Het
Nxn	A	G	11: 76,261,672 (GRCm38)		probably benign	Het
Oasl1	G	A	5: 114,923,469 (GRCm38)	A20T	possibly damaging	Het
Olfr1262	T	C	2: 90,002,574 (GRCm38)	F56S	probably benign	Het
Olfr141	C	T	2: 86,806,827 (GRCm38)	M57I	probably damaging	Het
Olfr1428	A	G	19: 12,109,507 (GRCm38)	V13A	probably benign	Het
Olfr1447	A	G	19: 12,900,851 (GRCm38)	*310Q	probably null	Het
Olfr164	A	T	16: 19,286,302 (GRCm38)	M147K	probably benign	Het
Olfr791	T	A	10: 129,527,049 (GRCm38)	V274D	probably damaging	Het
Pepd	T	C	7: 34,971,676 (GRCm38)	V215A	probably benign	Het
Pfkl	A	T	10: 78,001,426 (GRCm38)	N104K	probably damaging	Het
Phf24	T	C	4: 42,938,165 (GRCm38)		probably benign	Het
Pink1	T	C	4: 138,314,020 (GRCm38)	N530S	probably benign	Het
Pou3f2	T	C	4: 22,487,119 (GRCm38)	D338G	probably damaging	Het
Ppp1r13b	A	G	12: 111,834,810 (GRCm38)	V480A	probably damaging	Het
Ptgfrn	A	T	3: 101,056,307 (GRCm38)	I663N	probably benign	Het
Rad54b	A	C	4: 11,601,693 (GRCm38)	N416T	probably damaging	Het
Rasef	A	G	4: 73,744,114 (GRCm38)	S200P	possibly damaging	Het
Rbm33	T	A	5: 28,387,917 (GRCm38)	I605N	probably damaging	Het
Rps19bp1	T	C	15: 80,264,079 (GRCm38)	T31A	probably benign	Het
Ryr2	T	A	13: 11,556,698 (GRCm38)	T4885S	possibly damaging	Het
Sik3	C	G	9: 46,221,089 (GRCm38)	H1276Q	probably benign	Het
Skor2	T	C	18: 76,859,356 (GRCm38)	S258P	unknown	Het
Slc22a29	C	T	19: 8,217,759 (GRCm38)		probably null	Het
Slc8a3	A	T	12: 81,314,844 (GRCm38)	F400L	probably damaging	Het
Slc9a8	T	C	2: 167,424,214 (GRCm38)	I37T	possibly damaging	Het
Smchd1	A	G	17: 71,407,237 (GRCm38)	I877T	possibly damaging	Het
Spag5	A	G	11: 78,304,176 (GRCm38)	N103S	probably benign	Het
Sptbn1	A	T	11: 30,142,414 (GRCm38)	F450L	probably damaging	Het
Strn4	T	A	7: 16,833,921 (GRCm38)	Y507N	probably damaging	Het
Stxbp5	C	A	10: 9,812,298 (GRCm38)	V420F	possibly damaging	Het
Syt17	G	T	7: 118,433,985 (GRCm38)	L267I	possibly damaging	Het
Tdo2	T	A	3: 81,958,940 (GRCm38)	R339W	probably damaging	Het
Ttn	G	T	2: 76,808,524 (GRCm38)	T13938K	probably damaging	Het
Ttn	A	G	2: 76,741,401 (GRCm38)	S26383P	probably damaging	Het
Tulp2	A	G	7: 45,517,941 (GRCm38)	N188D	possibly damaging	Het
Ube3c	C	T	5: 29,587,317 (GRCm38)	R37C	probably damaging	Het
Uggt2	G	T	14: 119,008,055 (GRCm38)		probably benign	Het
Umodl1	G	A	17: 30,984,043 (GRCm38)	V457M	probably damaging	Het
Usp17la	C	T	7: 104,860,746 (GRCm38)	T186I	probably benign	Het
Vmn1r226	T	C	17: 20,687,580 (GRCm38)	S25P	probably damaging	Het
Vmn1r235	T	A	17: 21,262,397 (GRCm38)	I328K	possibly damaging	Het
Vmn2r50	A	T	7: 10,047,683 (GRCm38)	S378R	probably benign	Het
Vwa2	C	T	19: 56,908,934 (GRCm38)	T557I	probably benign	Het
Wdr60	A	C	12: 116,232,601 (GRCm38)	S509A	probably damaging	Het
Yes1	G	T	5: 32,684,735 (GRCm38)	Q534H	probably benign	Het
Zbtb25	A	T	12: 76,349,301 (GRCm38)	Y382*	probably null	Het
Zc3h3	G	A	15: 75,777,118 (GRCm38)	P722S	probably damaging	Het
Zfp36l2	T	C	17: 84,186,736 (GRCm38)	T158A	probably damaging	Het
Zfp536	T	C	7: 37,480,199 (GRCm38)	T994A	probably damaging	Het
Zfp592	C	T	7: 81,037,420 (GRCm38)	Q824*	probably null	Het
Zfp629	C	A	7: 127,612,000 (GRCm38)	K212N	probably damaging	Het
Zfp930	C	A	8: 69,228,705 (GRCm38)	Q350K	probably benign	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
R1763:Serpinb6b	UTSW	13	32,978,058 (GRCm38)	missense	probably damaging	1.00
R1917: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'- GGTTTTCCTCCCAAAGTTTAAGC -3'
(R):5'- TGTCACAACATTTACTGATGCAGAC -3'

Sequencing Primer
(F):5'- TCCTCCCAAAGTTTAAGCTGGAGG -3'
(R):5'- TTACTGATGCAGACAAATCATGAG -3'

Posted On

2014-07-14