Mutagenetix > Incidental Mutation

Incidental Mutation 'R5561:Spire1'

436638

Institutional Source

Beutler Lab

Gene Symbol

Spire1

Ensembl Gene

ENSMUSG00000024533

Gene Name

spire type actin nucleation factor 1

Synonyms

6030430B19Rik, Spir-1

MMRRC Submission

043118-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R5561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67621279-67743860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67639716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 266 (N266Y)

Ref Sequence

ENSEMBL: ENSMUSP00000049336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045105] [ENSMUST00000082243] [ENSMUST00000115050] [ENSMUST00000224799]

AlphaFold

Q52KF3

Predicted Effect

probably damaging
Transcript: ENSMUST00000045105
AA Change: N266Y

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049336
Gene: ENSMUSG00000024533
AA Change: N266Y

Domain	Start	End	E-Value	Type
Pfam:KIND	1	78	3.3e-27	PFAM
PDB:4EFH\|B	176	232	9e-6	PDB
low complexity region	289	316	N/A	INTRINSIC
low complexity region	339	350	N/A	INTRINSIC
SCOP:d1zbdb_	445	518	1e-7	SMART
low complexity region	596	606	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000082243
AA Change: N279Y

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080871
Gene: ENSMUSG00000024533
AA Change: N279Y

Domain	Start	End	E-Value	Type
Blast:KIND	1	73	2e-26	BLAST
PDB:3RBW\|D	1	79	3e-28	PDB
PDB:4EFH\|B	176	232	9e-6	PDB
low complexity region	302	329	N/A	INTRINSIC
low complexity region	352	363	N/A	INTRINSIC
SCOP:d1zbdb_	400	473	2e-7	SMART
low complexity region	551	561	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115050
AA Change: N279Y

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110702
Gene: ENSMUSG00000024533
AA Change: N279Y

Domain	Start	End	E-Value	Type
PDB:4EFH\|B	106	162	9e-6	PDB
low complexity region	219	246	N/A	INTRINSIC
low complexity region	269	280	N/A	INTRINSIC
SCOP:d1zbdb_	317	390	4e-7	SMART
low complexity region	468	478	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000224122

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224799
AA Change: N196Y

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with normal brain anatomy and intact visual and motor functions in both sexes, but show a male-specific increase in contextual and cued fear memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630095N17Rik	T	C	1: 75,197,181 (GRCm39)		probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adgrv1	A	G	13: 81,624,683 (GRCm39)	L3762P	probably damaging	Het
Amn1	G	A	6: 149,086,522 (GRCm39)	R4W	probably damaging	Het
Atxn1	G	T	13: 45,720,347 (GRCm39)	T516N	possibly damaging	Het
Atxn7	A	T	14: 14,089,260 (GRCm38)	T259S	probably benign	Het
Bsn	C	G	9: 107,982,710 (GRCm39)	R3681P	unknown	Het
C8b	T	C	4: 104,641,645 (GRCm39)	Y194H	possibly damaging	Het
Ccdc110	T	G	8: 46,393,646 (GRCm39)	S119R	probably benign	Het
Ccdc202	C	A	14: 96,119,807 (GRCm39)	A188E	probably benign	Het
Ceacam20	A	T	7: 19,704,318 (GRCm39)	Q123L	possibly damaging	Het
Clip3	A	G	7: 29,998,274 (GRCm39)	D240G	possibly damaging	Het
Col24a1	T	C	3: 145,004,588 (GRCm39)	F22S	probably benign	Het
Dlg5	T	A	14: 24,227,860 (GRCm39)	M354L	probably benign	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dnase1l3	A	G	14: 7,967,847 (GRCm38)	V282A	probably damaging	Het
Dnhd1	G	A	7: 105,364,028 (GRCm39)	G4127S	probably damaging	Het
Eed	G	A	7: 89,617,001 (GRCm39)	R165W	probably damaging	Het
Ephb2	C	T	4: 136,388,717 (GRCm39)	V627M	probably damaging	Het
Fancc	T	C	13: 63,465,201 (GRCm39)	E502G	possibly damaging	Het
Fbf1	T	C	11: 116,048,646 (GRCm39)	D105G	probably damaging	Het
Fer	T	A	17: 64,344,580 (GRCm39)	Y246*	probably null	Het
Fer1l6	A	G	15: 58,532,674 (GRCm39)	K1792E	probably damaging	Het
Foxi2	A	G	7: 135,013,376 (GRCm39)	D202G	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
H2-DMb2	G	T	17: 34,364,445 (GRCm39)		probably null	Het
Helq	G	T	5: 100,934,916 (GRCm39)	D491E	probably benign	Het
Hgsnat	A	G	8: 26,436,362 (GRCm39)	V564A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hs3st5	T	A	10: 36,709,425 (GRCm39)	V320D	probably damaging	Het
Ifit1bl1	A	T	19: 34,571,197 (GRCm39)	L420*	probably null	Het
Ift80	T	G	3: 68,875,196 (GRCm39)	N178T	probably benign	Het
Ing4	C	T	6: 125,024,023 (GRCm39)	T89I	possibly damaging	Het
Lcp1	G	A	14: 75,449,948 (GRCm39)	D386N	probably benign	Het
Mdc1	T	A	17: 36,159,438 (GRCm39)	I606K	probably benign	Het
Mllt10	T	A	2: 18,114,656 (GRCm39)	M120K	probably damaging	Het
Morc1	G	T	16: 48,269,711 (GRCm39)	L89F	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Nav3	C	A	10: 109,552,413 (GRCm39)	D1810Y	probably damaging	Het
Obscn	G	A	11: 58,926,919 (GRCm39)	T5532M	probably damaging	Het
Opn3	C	T	1: 175,493,153 (GRCm39)	R137H	probably damaging	Het
Or12j2	C	T	7: 139,916,065 (GRCm39)	Q97*	probably null	Het
Or2d36	A	G	7: 106,747,297 (GRCm39)	N258S	probably benign	Het
Palld	G	A	8: 61,969,619 (GRCm39)	A993V	probably damaging	Het
Ppp1r12c	A	T	7: 4,489,355 (GRCm39)		probably null	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,728,987 (GRCm39)		probably null	Het
Rapgef2	A	T	3: 78,995,950 (GRCm39)		probably null	Het
Ring1	T	C	17: 34,240,432 (GRCm39)	E382G	possibly damaging	Het
Rpl22l1	T	A	3: 28,860,969 (GRCm39)	N61K	probably benign	Het
Rpp14	A	G	14: 8,090,558 (GRCm38)		probably null	Het
Rusc2	C	T	4: 43,415,932 (GRCm39)	Q413*	probably null	Het
Slco3a1	A	G	7: 73,968,247 (GRCm39)	I491T	possibly damaging	Het
Smtnl1	C	T	2: 84,648,739 (GRCm39)	V172I	probably benign	Het
Spats2l	T	A	1: 57,939,780 (GRCm39)		probably null	Het
Stox2	T	C	8: 47,646,041 (GRCm39)	H473R	probably damaging	Het
Syne2	C	T	12: 76,141,232 (GRCm39)	R121*	probably null	Het
Synrg	G	A	11: 83,893,066 (GRCm39)		probably null	Het
Tm9sf1	C	T	14: 55,875,554 (GRCm39)	V397M	probably damaging	Het
Trabd	T	C	15: 88,966,187 (GRCm39)	M48T	probably benign	Het
Ttn	T	A	2: 76,537,577 (GRCm39)	I26457F	possibly damaging	Het
Uggt2	C	T	14: 119,278,939 (GRCm39)	R856Q	probably benign	Het
Ugt1a5	T	A	1: 88,094,039 (GRCm39)	M89K	probably benign	Het
Vmn2r53	A	T	7: 12,335,347 (GRCm39)	S104R	probably damaging	Het
Zdhhc12	A	T	2: 29,982,496 (GRCm39)	L53Q	probably null	Het

Other mutations in Spire1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Spire1	APN	18	67,662,085 (GRCm39)	missense	probably damaging	1.00
IGL01639:Spire1	APN	18	67,678,738 (GRCm39)	missense	possibly damaging	0.74
IGL02334:Spire1	APN	18	67,639,725 (GRCm39)	missense	probably benign	0.00
PIT4677001:Spire1	UTSW	18	67,624,435 (GRCm39)	missense	probably damaging	1.00
R0457:Spire1	UTSW	18	67,685,670 (GRCm39)	missense	probably damaging	0.98
R0531:Spire1	UTSW	18	67,624,375 (GRCm39)	missense	probably damaging	1.00
R0608:Spire1	UTSW	18	67,661,945 (GRCm39)	missense	probably damaging	0.99
R2098:Spire1	UTSW	18	67,636,536 (GRCm39)	missense	probably damaging	0.99
R2299:Spire1	UTSW	18	67,663,493 (GRCm39)	missense	probably damaging	1.00
R3028:Spire1	UTSW	18	67,624,417 (GRCm39)	missense	probably damaging	1.00
R3815:Spire1	UTSW	18	67,639,733 (GRCm39)	missense	probably benign	0.05
R4049:Spire1	UTSW	18	67,662,101 (GRCm39)	splice site	probably null
R4050:Spire1	UTSW	18	67,662,101 (GRCm39)	splice site	probably null
R4059:Spire1	UTSW	18	67,678,783 (GRCm39)	missense	probably damaging	0.98
R4109:Spire1	UTSW	18	67,630,287 (GRCm39)	missense	probably damaging	1.00
R4700:Spire1	UTSW	18	67,645,935 (GRCm39)	missense	probably benign	0.01
R4941:Spire1	UTSW	18	67,652,384 (GRCm39)	missense	possibly damaging	0.54
R4995:Spire1	UTSW	18	67,685,849 (GRCm39)	splice site	probably null
R5363:Spire1	UTSW	18	67,639,625 (GRCm39)	missense	probably damaging	1.00
R5795:Spire1	UTSW	18	67,628,265 (GRCm39)	missense	probably benign
R5952:Spire1	UTSW	18	67,639,779 (GRCm39)	missense	probably benign	0.00
R5982:Spire1	UTSW	18	67,630,386 (GRCm39)	critical splice acceptor site	probably null
R7388:Spire1	UTSW	18	67,652,950 (GRCm39)	missense	probably damaging	1.00
R7559:Spire1	UTSW	18	67,634,187 (GRCm39)	missense	probably benign	0.04
R8006:Spire1	UTSW	18	67,634,251 (GRCm39)	nonsense	probably null
R8111:Spire1	UTSW	18	67,652,391 (GRCm39)	missense	probably damaging	0.98
R8675:Spire1	UTSW	18	67,624,378 (GRCm39)	missense	possibly damaging	0.48
R8946:Spire1	UTSW	18	67,629,686 (GRCm39)	missense	probably damaging	1.00
R9441:Spire1	UTSW	18	67,652,462 (GRCm39)	missense	probably benign	0.41
R9706:Spire1	UTSW	18	67,636,508 (GRCm39)	missense	probably benign	0.39
T0970:Spire1	UTSW	18	67,634,133 (GRCm39)	splice site	probably null
Z1088:Spire1	UTSW	18	67,628,222 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CAGTAACTAATCTCCCTGCGAGC -3'
(R):5'- CATGGAAATGCTGTCACCTGG -3'

Sequencing Primer
(F):5'- TACCTTCACAGACTGGAACTTAGAG -3'
(R):5'- GGTTGTGCTTCCAACACAG -3'

Posted On

2016-10-24