Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01611:Spire2'

92100

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spire2

Ensembl Gene

ENSMUSG00000010154

Gene Name

spire type actin nucleation factor 2

Synonyms

Spir-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

IGL01611

Quality Score

Status

Chromosome

Chromosomal Location

124059452-124096254 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124086137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 290 (S290P)

Ref Sequence

ENSEMBL: ENSMUSP00000148710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010298] [ENSMUST00000127664] [ENSMUST00000212404]

AlphaFold

Q8K1S6

Predicted Effect

probably damaging
Transcript: ENSMUST00000010298
AA Change: S390P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000010298
Gene: ENSMUSG00000010154
AA Change: S390P

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
KIND	26	207	2.63e-82	SMART
PDB:4EFH\|B	310	360	8e-8	PDB
low complexity region	419	431	N/A	INTRINSIC
low complexity region	496	513	N/A	INTRINSIC
SCOP:d1zbdb_	540	636	7e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000212404
AA Change: S290P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,954,644 (GRCm39)	L209S	possibly damaging	Het
Abcc2	G	T	19: 43,815,068 (GRCm39)	V1152F	probably damaging	Het
Adam9	C	T	8: 25,457,212 (GRCm39)	V639I	probably benign	Het
Cdc6	A	G	11: 98,805,989 (GRCm39)	I388V	probably benign	Het
Chrm5	C	T	2: 112,310,651 (GRCm39)	W155*	probably null	Het
Chrna9	A	G	5: 66,128,287 (GRCm39)	D161G	probably damaging	Het
Det1	A	G	7: 78,477,702 (GRCm39)	V541A	possibly damaging	Het
Efhc1	G	T	1: 21,060,911 (GRCm39)	*649L	probably null	Het
Ehbp1	C	T	11: 22,122,883 (GRCm39)	V146M	probably damaging	Het
Enam	A	C	5: 88,651,608 (GRCm39)	D1039A	probably damaging	Het
Fam20b	A	T	1: 156,530,035 (GRCm39)	V133E	probably benign	Het
Frem2	T	A	3: 53,563,130 (GRCm39)	Q459L	probably benign	Het
Gapdhs	C	T	7: 30,429,866 (GRCm39)		probably benign	Het
Gm3404	T	A	5: 146,465,157 (GRCm39)	V299D	possibly damaging	Het
Gorasp2	C	A	2: 70,519,604 (GRCm39)	H310N	possibly damaging	Het
Gpr157	T	C	4: 150,186,094 (GRCm39)	S219P	possibly damaging	Het
Gpt2	T	A	8: 86,246,167 (GRCm39)	C375*	probably null	Het
Gtf2h3	T	C	5: 124,733,748 (GRCm39)	S274P	probably damaging	Het
Hmg20b	C	T	10: 81,183,309 (GRCm39)	V83M	probably benign	Het
Igf2r	G	T	17: 12,944,302 (GRCm39)	Y400*	probably null	Het
Ipo9	A	T	1: 135,314,431 (GRCm39)	W942R	possibly damaging	Het
Iqch	T	C	9: 63,403,519 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,127,383 (GRCm39)	L393P	probably benign	Het
Kcnk12	T	A	17: 88,104,495 (GRCm39)	I130L	probably benign	Het
Lcorl	T	C	5: 45,904,434 (GRCm39)	T205A	probably damaging	Het
Lpar6	G	T	14: 73,476,878 (GRCm39)	A280S	probably damaging	Het
Mgarp	A	T	3: 51,296,570 (GRCm39)	V152E	probably damaging	Het
Pard3b	A	G	1: 62,677,021 (GRCm39)	D1184G	probably damaging	Het
Pcnt	A	G	10: 76,272,258 (GRCm39)		probably null	Het
Pde6b	A	G	5: 108,551,262 (GRCm39)	N182S	possibly damaging	Het
Pom121	T	C	5: 135,412,526 (GRCm39)	K516E	unknown	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Ptpn18	T	C	1: 34,498,898 (GRCm39)		probably benign	Het
Rapgef5	C	T	12: 117,717,154 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,606,202 (GRCm39)	L4460S	possibly damaging	Het
Sema6b	T	C	17: 56,436,969 (GRCm39)		probably null	Het
Serpinb6d	T	A	13: 33,850,375 (GRCm39)	C67*	probably null	Het
Sorbs2	T	G	8: 46,248,381 (GRCm39)	V510G	probably null	Het
Spic	T	A	10: 88,511,864 (GRCm39)	I131F	possibly damaging	Het
Tas2r117	C	T	6: 132,780,447 (GRCm39)	S195F	probably benign	Het
Tas2r117	T	C	6: 132,780,450 (GRCm39)	V196A	probably damaging	Het
Tff1	C	T	17: 31,381,703 (GRCm39)	G58D	probably damaging	Het
Tmprss11g	T	C	5: 86,638,640 (GRCm39)	T283A	probably benign	Het
Toporsl	T	A	4: 52,610,794 (GRCm39)	L229H	probably damaging	Het
Vmn2r80	G	A	10: 79,007,488 (GRCm39)	G488D	probably damaging	Het
Vps54	T	A	11: 21,261,082 (GRCm39)	V583D	probably damaging	Het
Vwa1	T	C	4: 155,855,255 (GRCm39)	E286G	possibly damaging	Het
Vwde	A	T	6: 13,219,977 (GRCm39)	I58N	probably damaging	Het
Zbtb11	T	C	16: 55,800,973 (GRCm39)	V109A	probably damaging	Het
Zfp319	C	T	8: 96,055,540 (GRCm39)	R221Q	probably benign	Het

Other mutations in Spire2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Spire2	APN	8	124,080,798 (GRCm39)	missense	probably damaging	1.00
IGL01610:Spire2	APN	8	124,083,502 (GRCm39)	missense	probably damaging	1.00
IGL01776:Spire2	APN	8	124,086,131 (GRCm39)	missense	probably damaging	0.98
IGL02164:Spire2	APN	8	124,059,703 (GRCm39)	missense	probably damaging	0.99
IGL03005:Spire2	APN	8	124,090,107 (GRCm39)	missense	probably benign	0.16
R0127:Spire2	UTSW	8	124,084,836 (GRCm39)	splice site	probably benign
R0194:Spire2	UTSW	8	124,089,750 (GRCm39)	splice site	probably benign
R0571:Spire2	UTSW	8	124,080,855 (GRCm39)	missense	probably damaging	1.00
R1386:Spire2	UTSW	8	124,088,105 (GRCm39)	critical splice donor site	probably null
R1526:Spire2	UTSW	8	124,095,502 (GRCm39)	missense	probably benign	0.08
R1538:Spire2	UTSW	8	124,084,895 (GRCm39)	missense	probably damaging	1.00
R1917:Spire2	UTSW	8	124,089,810 (GRCm39)	missense	probably benign	0.00
R1919:Spire2	UTSW	8	124,089,810 (GRCm39)	missense	probably benign	0.00
R2018:Spire2	UTSW	8	124,059,657 (GRCm39)	missense	probably damaging	1.00
R2019:Spire2	UTSW	8	124,059,657 (GRCm39)	missense	probably damaging	1.00
R4524:Spire2	UTSW	8	124,086,974 (GRCm39)	missense	probably benign
R4672:Spire2	UTSW	8	124,084,850 (GRCm39)	missense	probably benign	0.06
R4931:Spire2	UTSW	8	124,095,523 (GRCm39)	missense	possibly damaging	0.54
R4973:Spire2	UTSW	8	124,083,583 (GRCm39)	missense	probably damaging	1.00
R5057:Spire2	UTSW	8	124,084,940 (GRCm39)	missense	probably damaging	1.00
R5702:Spire2	UTSW	8	124,073,402 (GRCm39)	missense	probably benign	0.07
R5899:Spire2	UTSW	8	124,080,833 (GRCm39)	missense	probably damaging	1.00
R6747:Spire2	UTSW	8	124,083,585 (GRCm39)	missense	probably damaging	1.00
R6816:Spire2	UTSW	8	124,086,152 (GRCm39)	missense	probably benign	0.12
R6823:Spire2	UTSW	8	124,083,466 (GRCm39)	missense	probably damaging	1.00
R7146:Spire2	UTSW	8	124,095,989 (GRCm39)	missense	probably benign	0.08
R7851:Spire2	UTSW	8	124,083,438 (GRCm39)	splice site	probably null
R7903:Spire2	UTSW	8	124,095,489 (GRCm39)	missense	probably benign
R7923:Spire2	UTSW	8	124,059,726 (GRCm39)	missense	probably benign	0.00
R8181:Spire2	UTSW	8	124,088,042 (GRCm39)	missense	probably damaging	0.99
R8673:Spire2	UTSW	8	124,086,867 (GRCm39)	missense	probably damaging	1.00
R9057:Spire2	UTSW	8	124,095,547 (GRCm39)	unclassified	probably benign
R9404:Spire2	UTSW	8	124,090,077 (GRCm39)	nonsense	probably null

Posted On

2013-12-09