Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01610:Spire2'

91982

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: 0.093) question?

Stock #

IGL01610

Quality Score

Status

Chromosome

Chromosomal Location

124059452-124096254 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124083502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 162 (L162Q)

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: L262Q

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

SMART Domains

Protein: ENSMUSP00000010298
Gene: ENSMUSG00000010154
AA Change: L262Q

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: L162Q

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018A14Rik	T	C	18: 46,332,633 (GRCm39)		probably benign	Het
4921524J17Rik	T	C	8: 86,138,871 (GRCm39)	I73V	probably benign	Het
4930562C15Rik	T	A	16: 4,669,429 (GRCm39)		probably benign	Het
Abca15	T	A	7: 119,939,867 (GRCm39)	V323D	probably damaging	Het
Acot10	T	C	15: 20,665,781 (GRCm39)	Y320C	probably damaging	Het
Acp6	T	A	3: 97,083,036 (GRCm39)	V349D	possibly damaging	Het
Adcy9	G	T	16: 4,235,978 (GRCm39)	Q478K	probably damaging	Het
Akap13	A	G	7: 75,369,928 (GRCm39)	I1843V	possibly damaging	Het
Akap13	A	T	7: 75,397,353 (GRCm39)	I2528F	probably damaging	Het
Akap9	G	A	5: 4,082,839 (GRCm39)	A1988T	possibly damaging	Het
Alox5	C	T	6: 116,390,508 (GRCm39)	V490M	probably damaging	Het
Aspm	C	T	1: 139,417,408 (GRCm39)	R1537*	probably null	Het
Bmf	G	A	2: 118,379,639 (GRCm39)	P46S	probably benign	Het
Brf1	T	A	12: 112,951,703 (GRCm39)	H92L	probably benign	Het
Chchd1	A	G	14: 20,753,245 (GRCm39)	N35S	probably benign	Het
Cntnap3	C	T	13: 64,905,115 (GRCm39)	G889S	probably damaging	Het
Col6a4	T	C	9: 105,924,906 (GRCm39)		probably benign	Het
Crispld1	A	G	1: 17,816,949 (GRCm39)		probably null	Het
Ddx27	T	C	2: 166,863,964 (GRCm39)		probably benign	Het
Dennd1b	A	G	1: 139,097,504 (GRCm39)		probably benign	Het
Dennd4a	T	C	9: 64,814,166 (GRCm39)	V1461A	probably damaging	Het
Drc7	C	T	8: 95,804,430 (GRCm39)	R843W	probably damaging	Het
Dync2li1	A	G	17: 84,935,742 (GRCm39)	E13G	probably damaging	Het
Egf	A	G	3: 129,499,909 (GRCm39)		probably benign	Het
Hpse2	T	C	19: 43,373,228 (GRCm39)	S134G	probably benign	Het
Hydin	A	G	8: 111,284,345 (GRCm39)	T3206A	probably benign	Het
Ier5l	T	A	2: 30,363,966 (GRCm39)	S20C	probably damaging	Het
Il1r1	A	G	1: 40,341,560 (GRCm39)	E324G	probably benign	Het
Kdm4b	C	T	17: 56,660,522 (GRCm39)		probably benign	Het
Lztfl1	T	A	9: 123,529,156 (GRCm39)	E298D	probably benign	Het
Myo1b	A	T	1: 51,815,405 (GRCm39)	M647K	probably damaging	Het
Or13a25	C	T	7: 140,247,584 (GRCm39)	A128V	probably damaging	Het
Or52z14	A	T	7: 103,253,274 (GRCm39)	T138S	probably benign	Het
Or5j1	G	T	2: 86,878,632 (GRCm39)		probably benign	Het
Parvb	A	T	15: 84,187,666 (GRCm39)	K258M	probably damaging	Het
Pcdhb11	T	G	18: 37,556,412 (GRCm39)	S581A	probably benign	Het
Pcnx2	C	A	8: 126,566,372 (GRCm39)	A1024S	possibly damaging	Het
Pde4a	T	C	9: 21,122,646 (GRCm39)		probably benign	Het
Pgr	A	T	9: 8,903,692 (GRCm39)	H571L	possibly damaging	Het
Phf20	G	T	2: 156,144,809 (GRCm39)	E806*	probably null	Het
Pilra	T	A	5: 137,833,803 (GRCm39)	I85F	probably damaging	Het
Pla2g2f	C	T	4: 138,480,622 (GRCm39)	V125M	probably damaging	Het
Rb1cc1	A	G	1: 6,318,705 (GRCm39)	N708S	probably benign	Het
Resf1	C	T	6: 149,230,449 (GRCm39)	T1165M	probably benign	Het
Rnase4	A	T	14: 51,342,378 (GRCm39)	Y34F	probably damaging	Het
Ropn1	A	T	16: 34,487,141 (GRCm39)	I26F	probably damaging	Het
Rpl9-ps6	T	A	19: 32,443,699 (GRCm39)	T85S	probably benign	Het
Scaf8	C	T	17: 3,246,124 (GRCm39)	P738S	probably damaging	Het
Sec31a	A	T	5: 100,550,217 (GRCm39)		probably benign	Het
Sel1l	C	T	12: 91,784,064 (GRCm39)	V459I	probably damaging	Het
Senp7	A	T	16: 55,996,186 (GRCm39)	D755V	possibly damaging	Het
Serpinb9d	A	T	13: 33,381,985 (GRCm39)	K151N	probably benign	Het
Slc8a3	A	G	12: 81,362,576 (GRCm39)	F81S	probably damaging	Het
Syt17	A	G	7: 118,033,216 (GRCm39)	I264T	possibly damaging	Het
Tbl3	A	T	17: 24,923,018 (GRCm39)	V379D	probably damaging	Het
Tenm3	A	T	8: 48,707,512 (GRCm39)	L1762Q	probably damaging	Het
Trerf1	A	T	17: 47,630,501 (GRCm39)		noncoding transcript	Het
Ttc13	T	C	8: 125,403,083 (GRCm39)	D552G	probably damaging	Het
Tuba3a	G	T	6: 125,255,529 (GRCm39)	T382K	possibly damaging	Het
Vmn1r210	A	T	13: 23,011,977 (GRCm39)	V103E	probably damaging	Het
Vmn1r80	A	G	7: 11,927,307 (GRCm39)	H139R	possibly damaging	Het
Xpo7	A	T	14: 70,940,670 (GRCm39)	F141Y	probably damaging	Het
Zfp143	T	A	7: 109,673,333 (GRCm39)	Y143*	probably null	Het
Zfp207	T	A	11: 80,276,796 (GRCm39)	C26S	probably damaging	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
IGL01611:Spire2	APN	8	124,086,137 (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