Mutagenetix > Incidental Mutation

Incidental Mutation 'R6747:Spire2'

530594

Institutional Source

Beutler Lab

Gene Symbol

Spire2

Ensembl Gene

ENSMUSG00000010154

Gene Name

spire type actin nucleation factor 2

Synonyms

Spir-2

MMRRC Submission

044864-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R6747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124059452-124096254 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 124083585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 190 (R190C)

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: R290C

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

SMART Domains

Protein: ENSMUSP00000010298
Gene: ENSMUSG00000010154
AA Change: R290C

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: R190C

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

97% (68/70)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	T	3: 121,919,962 (GRCm39)		probably null	Het
Acyp1	C	T	12: 85,325,679 (GRCm39)	V107I	probably null	Het
Aftph	T	C	11: 20,676,144 (GRCm39)		probably null	Het
Agtpbp1	A	T	13: 59,692,167 (GRCm39)		probably null	Het
Arhgap15	C	A	2: 44,006,689 (GRCm39)	P269T	probably damaging	Het
Arhgap30	T	C	1: 171,235,297 (GRCm39)	V557A	probably damaging	Het
Asb3	T	A	11: 31,031,493 (GRCm39)	M410K	probably benign	Het
B4galnt2	T	C	11: 95,759,460 (GRCm39)		probably null	Het
Birc2	A	G	9: 7,860,262 (GRCm39)		probably null	Het
Cav2	A	T	6: 17,286,950 (GRCm39)	N69Y	probably damaging	Het
Cc2d2b	G	A	19: 40,784,111 (GRCm39)	C826Y	probably benign	Het
Cenpf	T	A	1: 189,385,051 (GRCm39)	T2410S	probably benign	Het
Chchd1	A	G	14: 20,753,448 (GRCm39)	D24G	probably benign	Het
Cmip	G	A	8: 118,163,618 (GRCm39)	G450S	probably benign	Het
Col11a1	C	T	3: 114,006,099 (GRCm39)	Q534*	probably null	Het
Col3a1	G	T	1: 45,377,782 (GRCm39)		probably benign	Het
Cox4i1	T	C	8: 121,399,969 (GRCm39)	I31T	possibly damaging	Het
Cstf3	G	T	2: 104,477,112 (GRCm39)	V168F	probably damaging	Het
Dapk1	T	C	13: 60,873,154 (GRCm39)	I352T	probably benign	Het
Ddx52	T	C	11: 83,846,128 (GRCm39)	V456A	probably damaging	Het
Dmxl2	A	T	9: 54,323,372 (GRCm39)	H1337Q	probably damaging	Het
Dnah7a	T	C	1: 53,675,221 (GRCm39)	T369A	probably benign	Het
Dppa1	T	A	11: 46,516,422 (GRCm39)	I8F	unknown	Het
Ebf1	G	T	11: 44,774,641 (GRCm39)	V213F	probably damaging	Het
Foxb2	C	A	19: 16,850,197 (GRCm39)	E270*	probably null	Het
Gclc	A	T	9: 77,695,527 (GRCm39)	R450W	probably damaging	Het
Grin2d	T	C	7: 45,511,692 (GRCm39)	E251G	probably damaging	Het
Hal	A	T	10: 93,336,539 (GRCm39)	N423Y	probably damaging	Het
Krtap4-8	T	A	11: 99,670,917 (GRCm39)	I185F	unknown	Het
Lrp3	T	A	7: 34,910,862 (GRCm39)	Q61L	probably benign	Het
Met	A	C	6: 17,571,466 (GRCm39)	Q1296H	probably damaging	Het
Mphosph9	T	A	5: 124,435,762 (GRCm39)	N557I	possibly damaging	Het
Mrpl46	C	A	7: 78,432,729 (GRCm39)	W16C	probably benign	Het
Myh13	G	A	11: 67,241,245 (GRCm39)	R874Q	probably damaging	Het
Nelfb	G	A	2: 25,093,393 (GRCm39)	T453I	probably benign	Het
Nos2	A	G	11: 78,843,780 (GRCm39)	D909G	probably damaging	Het
Nr5a2	T	C	1: 136,810,082 (GRCm39)	E431G	possibly damaging	Het
Nsmce2	A	G	15: 59,463,573 (GRCm39)	D149G	probably benign	Het
Or52b1	C	T	7: 104,979,234 (GRCm39)	R55H	probably benign	Het
Or5ac21	T	C	16: 59,124,004 (GRCm39)	F164L	probably benign	Het
Pcbp4	C	A	9: 106,337,847 (GRCm39)		probably null	Het
Peg10	A	G	6: 4,757,137 (GRCm39)		probably benign	Het
Pms2	C	T	5: 143,862,237 (GRCm39)	P154L	probably benign	Het
Pou6f2	A	C	13: 18,303,772 (GRCm39)	L112R	probably benign	Het
Pramel30	T	C	4: 144,059,548 (GRCm39)	W420R	probably benign	Het
Prdm6	A	T	18: 53,598,118 (GRCm39)		probably benign	Het
Prob1	G	A	18: 35,788,207 (GRCm39)	R12W	probably damaging	Het
Rif1	T	A	2: 51,968,275 (GRCm39)		probably null	Het
Rpl9-ps6	A	G	19: 32,443,543 (GRCm39)	S137P	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Sec23ip	A	G	7: 128,354,573 (GRCm39)		silent	Het
Slc38a9	T	C	13: 112,826,714 (GRCm39)	C151R	probably benign	Het
Slc39a8	T	C	3: 135,554,941 (GRCm39)		probably null	Het
Slc6a18	C	A	13: 73,826,110 (GRCm39)		probably benign	Het
Snw1	T	C	12: 87,511,480 (GRCm39)	D57G	probably damaging	Het
Sox6	C	G	7: 115,140,966 (GRCm39)	R505P	probably damaging	Het
Speg	T	C	1: 75,387,039 (GRCm39)		probably null	Het
Stard9	A	C	2: 120,528,864 (GRCm39)	H1707P	possibly damaging	Het
Tenm3	G	T	8: 48,796,278 (GRCm39)	T237K	probably damaging	Het
Themis2	T	A	4: 132,523,573 (GRCm39)	E31V	possibly damaging	Het
Trim56	T	G	5: 137,143,375 (GRCm39)	Q47P	probably damaging	Het
Trim58	T	C	11: 58,542,090 (GRCm39)	I350T	probably benign	Het
Ttll7	C	T	3: 146,649,811 (GRCm39)	P639S	probably benign	Het
Ubxn6	A	G	17: 56,377,650 (GRCm39)		probably null	Het
Vmn2r114	A	T	17: 23,528,850 (GRCm39)	F417L	probably benign	Het
Vmn2r29	T	A	7: 7,234,421 (GRCm39)	M822L	probably benign	Het
Vps9d1	T	C	8: 123,980,746 (GRCm39)	D27G	probably damaging	Het
Wdr3	C	T	3: 100,046,040 (GRCm39)	R931Q	probably damaging	Het
Whamm	G	A	7: 81,228,050 (GRCm39)		probably null	Het
Zcchc24	T	C	14: 25,757,457 (GRCm39)	H142R	probably damaging	Het
Zfp292	T	C	4: 34,806,894 (GRCm39)	K2050R	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
IGL01610:Spire2	APN	8	124,083,502 (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
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

Predicted Primers

PCR Primer
(F):5'- AGACTGGGTAAGACGCACAC -3'
(R):5'- GCCCTAATTTAAACTCTGATCAAGCAC -3'

Sequencing Primer
(F):5'- GAGCACGGTACACCCAGAG -3'
(R):5'- GCACAAGCGAAGGGACAAG -3'

Posted On

2018-08-01