Mutagenetix > Incidental Mutation

Incidental Mutation 'R1843:Serpinb6d'

207464

Institutional Source

Beutler Lab

Gene Symbol

Serpinb6d

Ensembl Gene

ENSMUSG00000047889

Gene Name

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

Synonyms

SPI3D, Gm11390

MMRRC Submission

039868-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R1843 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33661405-33671581 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33671381 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 346 (P346L)

Ref Sequence

ENSEMBL: ENSMUSP00000152621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059637] [ENSMUST00000221681]

AlphaFold

Q3UWK8

Predicted Effect

probably benign
Transcript: ENSMUST00000059637
AA Change: P346L

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

SMART Domains

Protein: ENSMUSP00000063025
Gene: ENSMUSG00000047889
AA Change: P346L

Domain	Start	End	E-Value	Type
SERPIN	13	375	1.67e-144	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000221681
AA Change: P346L

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is a member of the large Serpin gene family. Many members of this family act as protease inhibitors, and have a conserved structure including a reactive center loop (RCL) that can act as a bait for protease targets. Unlike some members of this large gene family, the protein encoded by this gene is an intracellular protein, and lacks an N-terminal signal peptide sequence. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 13. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	C	T	8: 105,708,974 (GRCm38)	T88M	probably damaging	Het
9130011E15Rik	A	C	19: 45,975,252 (GRCm38)	S42R	probably benign	Het
9430038I01Rik	A	G	7: 137,377,066 (GRCm38)		probably benign	Het
Adgra3	A	C	5: 49,961,492 (GRCm38)	S905A	probably damaging	Het
Adgrv1	A	G	13: 81,544,533 (GRCm38)	Y1618H	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,314 (GRCm38)	T26A	probably benign	Het
Ankrd13d	T	C	19: 4,271,595 (GRCm38)	K360E	probably damaging	Het
Anks1b	T	A	10: 90,512,889 (GRCm38)		probably null	Het
Apob	T	C	12: 8,007,602 (GRCm38)	F2028S	possibly damaging	Het
Arap3	G	A	18: 37,975,583 (GRCm38)	R1265W	probably damaging	Het
Arhgef37	A	G	18: 61,518,050 (GRCm38)	Y135H	probably damaging	Het
Atp1a1	T	C	3: 101,582,017 (GRCm38)	T760A	probably benign	Het
Cdc42bpb	T	A	12: 111,322,821 (GRCm38)	M497L	probably benign	Het
Ces5a	C	T	8: 93,514,231 (GRCm38)	V413M	probably damaging	Het
Chd5	A	T	4: 152,385,806 (GRCm38)	Y1903F	probably damaging	Het
Chd9	T	A	8: 91,010,794 (GRCm38)	N1500K	probably benign	Het
Chmp7	G	T	14: 69,719,799 (GRCm38)	D303E	probably benign	Het
Chrnb4	A	T	9: 55,034,818 (GRCm38)	Y391N	possibly damaging	Het
Crtc1	T	C	8: 70,388,152 (GRCm38)	T475A	probably benign	Het
Cyp2c69	A	G	19: 39,877,528 (GRCm38)	I207T	probably benign	Het
Dcp1a	A	G	14: 30,518,983 (GRCm38)	E250G	probably damaging	Het
Ddx20	T	C	3: 105,679,082 (GRCm38)	Q649R	probably benign	Het
Defb12	T	A	8: 19,112,738 (GRCm38)	K59N	probably damaging	Het
Dpy19l3	A	T	7: 35,729,760 (GRCm38)	I85N	probably damaging	Het
Duox2	C	T	2: 122,292,258 (GRCm38)		probably null	Het
E430018J23Rik	A	C	7: 127,391,488 (GRCm38)	D442E	probably benign	Het
Ebi3	T	A	17: 55,956,679 (GRCm38)	Y197N	probably damaging	Het
Emc1	G	A	4: 139,375,512 (GRCm38)	R994Q	probably benign	Het
Ercc6	G	T	14: 32,546,820 (GRCm38)	M530I	probably damaging	Het
Evl	T	A	12: 108,652,996 (GRCm38)	D70E	probably damaging	Het
Fam35a	A	G	14: 34,267,803 (GRCm38)	I382T	probably benign	Het
Fbln2	A	G	6: 91,265,775 (GRCm38)	N819S	probably damaging	Het
Foxk2	A	G	11: 121,285,537 (GRCm38)	I170V	probably benign	Het
Gfm1	T	C	3: 67,435,610 (GRCm38)	V159A	probably damaging	Het
Gm10837	A	G	14: 122,490,765 (GRCm38)	T18A	unknown	Het
Gm12887	A	T	4: 121,622,030 (GRCm38)	V25E	probably damaging	Het
Hectd4	A	G	5: 121,297,180 (GRCm38)	H985R	possibly damaging	Het
Hsfy2	A	G	1: 56,636,632 (GRCm38)	Y249H	possibly damaging	Het
Hspg2	T	C	4: 137,545,567 (GRCm38)	V2639A	probably damaging	Het
Igf2r	A	G	17: 12,704,270 (GRCm38)		probably null	Het
Invs	T	A	4: 48,422,035 (GRCm38)	I889N	probably damaging	Het
Kcnq1	A	T	7: 143,183,120 (GRCm38)	M209L	probably benign	Het
Klra7	A	G	6: 130,229,994 (GRCm38)	I48T	possibly damaging	Het
Krt26	CTAGTA	CTA	11: 99,333,526 (GRCm38)		probably benign	Het
Lrif1	T	A	3: 106,732,811 (GRCm38)	V404D	probably damaging	Het
Lrriq1	T	A	10: 103,227,173 (GRCm38)		probably null	Het
Lypd6	T	A	2: 50,188,762 (GRCm38)	I90N	possibly damaging	Het
Mbp	A	G	18: 82,584,122 (GRCm38)	D174G	probably damaging	Het
Megf9	G	T	4: 70,534,785 (GRCm38)	P13Q	probably damaging	Het
Myo15b	A	T	11: 115,869,586 (GRCm38)	T1155S	probably benign	Het
Nlrp6	T	A	7: 140,923,093 (GRCm38)	C371S	probably damaging	Het
Nosip	T	A	7: 45,077,309 (GRCm38)		probably null	Het
Nox3	G	T	17: 3,669,878 (GRCm38)	P344H	probably damaging	Het
Nup210l	T	C	3: 90,172,086 (GRCm38)	V959A	probably damaging	Het
Olfr1360	C	A	13: 21,674,672 (GRCm38)	V91L	probably benign	Het
Olfr1475	A	G	19: 13,479,931 (GRCm38)	I89T	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,077 (GRCm38)	I211F	probably damaging	Het
Olfr267	T	C	4: 58,785,384 (GRCm38)	I113V	probably benign	Het
Olfr959	A	G	9: 39,572,735 (GRCm38)	Y175H	possibly damaging	Het
Osbpl3	A	C	6: 50,370,143 (GRCm38)	S25A	probably damaging	Het
Otog	G	A	7: 46,246,283 (GRCm38)	C107Y	probably damaging	Het
Pax7	G	A	4: 139,784,491 (GRCm38)	R260C	probably damaging	Het
Pbrm1	A	T	14: 31,038,957 (GRCm38)	I224F	probably damaging	Het
Pcdh1	T	A	18: 38,192,225 (GRCm38)		probably null	Het
Pcnx	T	C	12: 81,980,935 (GRCm38)	L1585P	probably damaging	Het
Pde4c	C	T	8: 70,747,950 (GRCm38)	H362Y	probably damaging	Het
Pdlim2	C	T	14: 70,164,779 (GRCm38)	R296H	probably damaging	Het
Pgm2	A	T	4: 99,961,478 (GRCm38)	Q90L	probably damaging	Het
Phlpp1	A	G	1: 106,343,505 (GRCm38)	H814R	probably benign	Het
Pknox2	A	T	9: 36,954,831 (GRCm38)	M5K	possibly damaging	Het
Pole	G	A	5: 110,330,835 (GRCm38)		probably null	Het
Polr1b	A	G	2: 129,102,966 (GRCm38)	I61V	probably benign	Het
Prelp	T	C	1: 133,914,757 (GRCm38)	K217E	probably damaging	Het
Prkce	C	T	17: 86,475,546 (GRCm38)	Q202*	probably null	Het
Psmd2	T	G	16: 20,656,582 (GRCm38)	M370R	probably benign	Het
Rimklb	A	T	6: 122,464,009 (GRCm38)	H68Q	probably damaging	Het
Rnasel	A	G	1: 153,754,674 (GRCm38)	D312G	possibly damaging	Het
Rxrg	A	T	1: 167,598,752 (GRCm38)	M1L	probably benign	Het
Scrn1	A	G	6: 54,522,841 (GRCm38)	F220L	possibly damaging	Het
Scyl3	A	G	1: 163,950,675 (GRCm38)	S461G	probably benign	Het
Serpina1c	T	A	12: 103,895,023 (GRCm38)	T411S	probably benign	Het
Slc9a3r2	C	T	17: 24,641,719 (GRCm38)	S150N	possibly damaging	Het
Spg21	G	T	9: 65,465,336 (GRCm38)	V17F	probably damaging	Het
Spink5	A	T	18: 43,999,891 (GRCm38)	M525L	probably benign	Het
Sun2	T	C	15: 79,737,563 (GRCm38)	T155A	probably benign	Het
Tchh	T	A	3: 93,446,780 (GRCm38)	F1176I	unknown	Het
Tex15	T	A	8: 33,576,654 (GRCm38)	D2037E	probably benign	Het
Tfdp2	T	C	9: 96,317,804 (GRCm38)	C392R	possibly damaging	Het
Tmem30c	T	C	16: 57,276,780 (GRCm38)	N139S	probably benign	Het
Tns2	C	T	15: 102,113,133 (GRCm38)		probably null	Het
Trim66	T	C	7: 109,475,839 (GRCm38)	E405G	probably damaging	Het
Trpc4	T	A	3: 54,279,994 (GRCm38)	F456I	probably benign	Het
Tspo2	T	C	17: 48,448,790 (GRCm38)	D108G	possibly damaging	Het
Tyk2	A	T	9: 21,121,554 (GRCm38)	C304*	probably null	Het
Vgll4	A	T	6: 114,862,795 (GRCm38)	S185T	probably benign	Het
Vmn2r94	A	C	17: 18,244,470 (GRCm38)	S519R	probably benign	Het
Vmn2r96	T	G	17: 18,597,921 (GRCm38)	S587A	probably benign	Het
Vps4b	C	A	1: 106,778,982 (GRCm38)	A287S	possibly damaging	Het
Yeats2	C	T	16: 20,229,564 (GRCm38)	P1332S	probably benign	Het
Zfp462	T	G	4: 55,010,010 (GRCm38)	S659A	possibly damaging	Het
Zfp507	C	T	7: 35,793,725 (GRCm38)	R631Q	probably damaging	Het
Zswim5	G	T	4: 116,877,699 (GRCm38)	E80D	unknown	Het

Other mutations in Serpinb6d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01482:Serpinb6d	APN	13	33,671,363 (GRCm38)	missense	probably benign	0.05
IGL01611:Serpinb6d	APN	13	33,666,392 (GRCm38)	nonsense	probably null
IGL01946:Serpinb6d	APN	13	33,671,386 (GRCm38)	missense	probably benign	0.22
IGL02672:Serpinb6d	APN	13	33,671,389 (GRCm38)	missense	probably benign	0.36
R0041:Serpinb6d	UTSW	13	33,667,632 (GRCm38)	missense	probably damaging	0.98
R0041:Serpinb6d	UTSW	13	33,667,632 (GRCm38)	missense	probably damaging	0.98
R1112:Serpinb6d	UTSW	13	33,669,135 (GRCm38)	missense	probably damaging	1.00
R1159:Serpinb6d	UTSW	13	33,671,229 (GRCm38)	missense	probably damaging	0.98
R1447:Serpinb6d	UTSW	13	33,670,756 (GRCm38)	missense	probably benign	0.42
R1608:Serpinb6d	UTSW	13	33,669,129 (GRCm38)	missense	probably benign
R1945:Serpinb6d	UTSW	13	33,667,680 (GRCm38)	missense	possibly damaging	0.95
R2168:Serpinb6d	UTSW	13	33,666,374 (GRCm38)	missense	probably benign	0.08
R2275:Serpinb6d	UTSW	13	33,671,428 (GRCm38)	missense	probably benign	0.00
R3737:Serpinb6d	UTSW	13	33,667,680 (GRCm38)	missense	probably damaging	1.00
R3738:Serpinb6d	UTSW	13	33,667,680 (GRCm38)	missense	probably damaging	1.00
R3739:Serpinb6d	UTSW	13	33,667,680 (GRCm38)	missense	probably damaging	1.00
R3780:Serpinb6d	UTSW	13	33,664,114 (GRCm38)	missense	probably benign
R3782:Serpinb6d	UTSW	13	33,664,114 (GRCm38)	missense	probably benign
R4002:Serpinb6d	UTSW	13	33,670,647 (GRCm38)	missense	probably damaging	0.98
R4685:Serpinb6d	UTSW	13	33,671,228 (GRCm38)	missense	probably damaging	1.00
R4707:Serpinb6d	UTSW	13	33,671,353 (GRCm38)	missense	possibly damaging	0.83
R4761:Serpinb6d	UTSW	13	33,671,267 (GRCm38)	missense	probably damaging	1.00
R4859:Serpinb6d	UTSW	13	33,667,564 (GRCm38)	splice site	probably null
R4884:Serpinb6d	UTSW	13	33,666,445 (GRCm38)	missense	possibly damaging	0.76
R4951:Serpinb6d	UTSW	13	33,666,383 (GRCm38)	missense	probably benign	0.03
R5010:Serpinb6d	UTSW	13	33,671,444 (GRCm38)	missense	probably benign	0.15
R5081:Serpinb6d	UTSW	13	33,671,247 (GRCm38)	missense	probably benign	0.32
R6726:Serpinb6d	UTSW	13	33,670,735 (GRCm38)	missense	probably benign	0.01
R6960:Serpinb6d	UTSW	13	33,671,198 (GRCm38)	missense	probably benign	0.08
R7214:Serpinb6d	UTSW	13	33,664,145 (GRCm38)	missense	probably damaging	1.00
R7732:Serpinb6d	UTSW	13	33,669,099 (GRCm38)	missense	probably benign	0.14
R8128:Serpinb6d	UTSW	13	33,666,400 (GRCm38)	missense	possibly damaging	0.46
R8197:Serpinb6d	UTSW	13	33,667,605 (GRCm38)	missense	probably damaging	0.98
R8471:Serpinb6d	UTSW	13	33,664,154 (GRCm38)	missense	probably damaging	0.99
R9026:Serpinb6d	UTSW	13	33,667,673 (GRCm38)	missense	possibly damaging	0.51
R9080:Serpinb6d	UTSW	13	33,671,124 (GRCm38)	missense	probably benign
R9253:Serpinb6d	UTSW	13	33,671,222 (GRCm38)	missense	probably damaging	1.00
R9562:Serpinb6d	UTSW	13	33,670,773 (GRCm38)	missense	probably benign	0.00
Z1088:Serpinb6d	UTSW	13	33,671,254 (GRCm38)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- GCTGGAGGAGATCTATGACATG -3'
(R):5'- GATGCAATGCCATGAAGCCG -3'

Sequencing Primer
(F):5'- CAATGTTCTTTACAAGATGGGCATG -3'
(R):5'- GCAATGCCATGAAGCCGTTTATTTC -3'

Posted On

2014-06-23