Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02206:Serpinb9h'

284462

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpinb9h

Ensembl Gene

ENSMUSG00000071452

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 9h

Synonyms

Gm11397

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

IGL02206

Quality Score

Status

Chromosome

Chromosomal Location

33579656-33589128 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33588182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 256 (T256A)

Ref Sequence

ENSEMBL: ENSMUSP00000049819 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050276]

AlphaFold

F6V5V4

Predicted Effect

probably damaging
Transcript: ENSMUST00000050276
AA Change: T256A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049819
Gene: ENSMUSG00000071452
AA Change: T256A

Domain	Start	End	E-Value	Type
SERPIN	13	377	1.3e-164	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	T	11: 84,151,573 (GRCm39)	K824*	probably null	Het
Acot12	A	G	13: 91,908,106 (GRCm39)	D96G	probably damaging	Het
Acvr2b	C	T	9: 119,257,064 (GRCm39)	Q98*	probably null	Het
Aldh8a1	T	C	10: 21,271,474 (GRCm39)	V400A	probably benign	Het
Aox1	C	A	1: 58,104,499 (GRCm39)	H559N	probably benign	Het
Arhgef18	T	A	8: 3,495,034 (GRCm39)	I431N	probably benign	Het
Atad5	A	G	11: 79,985,009 (GRCm39)	D32G	probably damaging	Het
Cgas	T	C	9: 78,350,362 (GRCm39)		probably null	Het
Cmtm8	T	C	9: 114,672,967 (GRCm39)	H10R	probably benign	Het
Cnn1	T	G	9: 22,015,674 (GRCm39)		probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Defb23	C	A	2: 152,306,455 (GRCm39)	E20*	probably null	Het
Dennd2a	A	T	6: 39,500,383 (GRCm39)	S61T	probably damaging	Het
Fam13a	A	T	6: 58,964,204 (GRCm39)	I76K	probably benign	Het
Fgd5	A	G	6: 91,964,239 (GRCm39)		probably benign	Het
Flt4	A	T	11: 49,521,217 (GRCm39)	R409W	probably damaging	Het
Gramd1b	T	C	9: 40,211,328 (GRCm39)	T652A	probably benign	Het
Grik1	C	T	16: 87,732,808 (GRCm39)	G703D	probably damaging	Het
Impg2	A	G	16: 56,079,960 (GRCm39)	E479G	possibly damaging	Het
Itpr1	A	G	6: 108,526,781 (GRCm39)	N2743S	probably damaging	Het
Klc1	A	G	12: 111,744,550 (GRCm39)		probably benign	Het
Ndufa9	G	A	6: 126,821,366 (GRCm39)	R75*	probably null	Het
Neurl4	A	G	11: 69,801,166 (GRCm39)	N1181S	probably damaging	Het
Or5an9	T	C	19: 12,187,824 (GRCm39)	I298T	probably damaging	Het
Phf1	A	G	17: 27,155,843 (GRCm39)		probably benign	Het
Pkhd1l1	T	C	15: 44,376,245 (GRCm39)	I969T	probably benign	Het
Pprc1	G	A	19: 46,060,190 (GRCm39)	R1538Q	probably damaging	Het
Rasd1	C	T	11: 59,854,778 (GRCm39)	G234D	possibly damaging	Het
Rnf152	T	C	1: 105,212,549 (GRCm39)	T3A	probably benign	Het
Rrh	C	T	3: 129,605,346 (GRCm39)	V115I	probably benign	Het
Rundc3a	G	T	11: 102,290,460 (GRCm39)	E217*	probably null	Het
Sae1	A	T	7: 16,064,581 (GRCm39)	V306E	possibly damaging	Het
Serpinb7	T	C	1: 107,363,102 (GRCm39)	S89P	possibly damaging	Het
Sgo2b	T	A	8: 64,394,118 (GRCm39)	T74S	possibly damaging	Het
Slc5a7	T	C	17: 54,604,022 (GRCm39)	D48G	probably damaging	Het
Stn1	T	C	19: 47,504,612 (GRCm39)	M177V	possibly damaging	Het
Tgm1	T	C	14: 55,942,392 (GRCm39)	E653G	possibly damaging	Het
Thsd4	T	C	9: 60,301,398 (GRCm39)	K299R	probably benign	Het
Ttc22	A	G	4: 106,493,186 (GRCm39)	T278A	probably damaging	Het
Ubl4b	G	T	3: 107,462,141 (GRCm39)	Q40K	possibly damaging	Het
Zfp677	A	G	17: 21,613,499 (GRCm39)	D31G	probably damaging	Het

Other mutations in Serpinb9h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02662:Serpinb9h	APN	13	33,588,513 (GRCm39)	missense	possibly damaging	0.51
R0017:Serpinb9h	UTSW	13	33,588,494 (GRCm39)	missense	probably damaging	0.99
R1343:Serpinb9h	UTSW	13	33,588,468 (GRCm39)	missense	possibly damaging	0.47
R1757:Serpinb9h	UTSW	13	33,583,336 (GRCm39)	missense	probably benign	0.00
R1886:Serpinb9h	UTSW	13	33,588,203 (GRCm39)	missense	possibly damaging	0.56
R5559:Serpinb9h	UTSW	13	33,588,301 (GRCm39)	missense	probably benign
R5681:Serpinb9h	UTSW	13	33,579,812 (GRCm39)	missense	probably damaging	0.98
R6189:Serpinb9h	UTSW	13	33,588,427 (GRCm39)	missense	probably benign
R7585:Serpinb9h	UTSW	13	33,588,299 (GRCm39)	missense	probably benign	0.43
R7746:Serpinb9h	UTSW	13	33,581,841 (GRCm39)	missense	probably damaging	0.98
R8786:Serpinb9h	UTSW	13	33,588,204 (GRCm39)	missense	probably benign	0.17
R8787:Serpinb9h	UTSW	13	33,588,204 (GRCm39)	missense	probably benign	0.17
R9032:Serpinb9h	UTSW	13	33,581,781 (GRCm39)	missense	probably damaging	0.98
R9085:Serpinb9h	UTSW	13	33,581,781 (GRCm39)	missense	probably damaging	0.98
Z1177:Serpinb9h	UTSW	13	33,588,493 (GRCm39)	missense	possibly damaging	0.47

Posted On

2015-04-16