Mutagenetix > Incidental Mutation

Incidental Mutation 'R8673:Spire2'

661265

Institutional Source

Beutler Lab

Gene Symbol

Spire2

Ensembl Gene

ENSMUSG00000010154

Gene Name

spire type actin nucleation factor 2

Synonyms

Spir-2

MMRRC Submission

068528-MU

Accession Numbers

Essential gene?

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

Stock #

R8673 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124059452-124096254 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124086867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 446 (E446G)

Ref Sequence

ENSEMBL: ENSMUSP00000010298 (fasta)

Gene Model

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

AlphaFold

Q8K1S6

Predicted Effect

probably damaging
Transcript: ENSMUST00000010298
AA Change: E446G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000010298
Gene: ENSMUSG00000010154
AA Change: E446G

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: E346G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
Anxa9	C	T	3: 95,207,657 (GRCm39)	R250Q	probably benign	Het
Apaf1	A	G	10: 90,831,530 (GRCm39)	S1195P	probably damaging	Het
Baiap2l1	T	A	5: 144,212,852 (GRCm39)		probably benign	Het
Bpifb6	G	T	2: 153,747,212 (GRCm39)	C172F	probably damaging	Het
Ccdc9	A	T	7: 16,018,286 (GRCm39)	D7E	probably damaging	Het
Cdcp3	A	T	7: 130,844,846 (GRCm39)	I580F	probably damaging	Het
Chchd6	T	A	6: 89,546,380 (GRCm39)	S109C	probably damaging	Het
Cltc	G	A	11: 86,648,201 (GRCm39)		probably benign	Het
Col4a6	G	A	X: 140,017,173 (GRCm39)	P60L	probably damaging	Het
Cxxc1	C	T	18: 74,351,915 (GRCm39)	T264I	probably benign	Het
D5Ertd579e	A	G	5: 36,830,151 (GRCm39)	S58P	probably benign	Het
Dlgap1	T	A	17: 71,122,293 (GRCm39)	H907Q	probably damaging	Het
Dnah2	A	T	11: 69,405,523 (GRCm39)	M663K	probably benign	Het
Dock8	G	A	19: 25,160,867 (GRCm39)	M1791I	probably damaging	Het
Esd	T	C	14: 74,969,952 (GRCm39)	F8S	probably benign	Het
Etnk2	T	C	1: 133,302,300 (GRCm39)	Y273H	probably damaging	Het
Fry	C	A	5: 150,318,576 (GRCm39)	H935Q	possibly damaging	Het
Gabrr3	T	G	16: 59,235,633 (GRCm39)	M45R	possibly damaging	Het
Gata4	T	C	14: 63,478,258 (GRCm39)	T114A	probably benign	Het
Gcnt4	G	A	13: 97,082,997 (GRCm39)	D98N	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igkv1-99	C	T	6: 68,519,387 (GRCm39)	Q115*	probably null	Het
Irak3	G	T	10: 119,982,493 (GRCm39)	T323K	possibly damaging	Het
Lrp2	T	C	2: 69,302,804 (GRCm39)	D2975G	probably damaging	Het
Mybph	T	A	1: 134,126,142 (GRCm39)	W319R	probably damaging	Het
Nell1	A	G	7: 49,869,343 (GRCm39)	D206G	probably damaging	Het
Or10ag55-ps1	A	T	2: 87,114,658 (GRCm39)	D8V	probably benign	Het
Or4c105	T	C	2: 88,647,590 (GRCm39)	V25A	probably benign	Het
Or5b114-ps1	T	C	19: 13,352,581 (GRCm39)	I85T	probably benign	Het
Pex1	A	C	5: 3,685,886 (GRCm39)	D1209A	possibly damaging	Het
Phf10	T	C	17: 15,170,868 (GRCm39)	D355G	probably benign	Het
Psmd2	T	C	16: 20,475,638 (GRCm39)	S413P	probably damaging	Het
Ptgir	G	T	7: 16,641,287 (GRCm39)	C193F	probably damaging	Het
Rad21l	A	G	2: 151,502,718 (GRCm39)	I164T	possibly damaging	Het
Ralgapb	G	A	2: 158,292,133 (GRCm39)	R773H	probably damaging	Het
Rasgef1b	G	T	5: 99,370,844 (GRCm39)	N385K	probably damaging	Het
Shank3	C	T	15: 89,433,979 (GRCm39)	R1575C	probably damaging	Het
Slc7a2	G	T	8: 41,365,446 (GRCm39)		probably benign	Het
Spata1	T	A	3: 146,181,079 (GRCm39)	N293I	probably damaging	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Sphkap	T	C	1: 83,253,561 (GRCm39)	H1396R	probably benign	Het
Tdpoz2	A	T	3: 93,558,918 (GRCm39)	C351*	probably null	Het
Thoc5	G	A	11: 4,876,061 (GRCm39)	V605I	possibly damaging	Het
Ttll2	C	T	17: 7,619,340 (GRCm39)	V196I	possibly damaging	Het
Uba6	A	G	5: 86,284,178 (GRCm39)	Y576H	probably damaging	Het
Vegfb	G	A	19: 6,962,812 (GRCm39)	P188L	unknown	Het
Vmn1r62	A	G	7: 5,678,277 (GRCm39)		probably benign	Het
Vmn2r73	T	A	7: 85,521,902 (GRCm39)	T146S	probably benign	Het
Wdr64	A	G	1: 175,633,584 (GRCm39)	Y945C	probably damaging	Het
Zfp870	C	T	17: 33,101,904 (GRCm39)	C475Y	probably damaging	Het
Zfp958	A	T	8: 4,678,268 (GRCm39)	T98S	possibly 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
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
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'- TCAGTCAGTGCCCTGGATTC -3'
(R):5'- GCAACACAAAGTCCGTGGAG -3'

Sequencing Primer
(F):5'- GGATTCACTGCCTTGGTCCAAG -3'
(R):5'- CACAAAGTCCGTGGAGTGAAC -3'

Posted On

2021-03-08