Mutagenetix > Incidental Mutation

Incidental Mutation 'R7559:Spire1'

584986

Institutional Source

Beutler Lab

Gene Symbol

Spire1

Ensembl Gene

ENSMUSG00000024533

Gene Name

spire type actin nucleation factor 1

Synonyms

6030430B19Rik, Spir-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R7559 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67488209-67610790 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67501117 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 417 (M417K)

Ref Sequence

ENSEMBL: ENSMUSP00000049336 (fasta)

Gene Model

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

AlphaFold

Q52KF3

Predicted Effect

probably benign
Transcript: ENSMUST00000045105
AA Change: M417K

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000049336
Gene: ENSMUSG00000024533
AA Change: M417K

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

SMART Domains

Protein: ENSMUSP00000080871
Gene: ENSMUSG00000024533

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

SMART Domains

Protein: ENSMUSP00000110702
Gene: ENSMUSG00000024533

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: ENSMUST00000224799

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (68/69)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap1	C	A	5: 139,279,540	R206L	probably damaging	Het
Adcy3	A	G	12: 4,198,440	K501E	probably benign	Het
Agl	T	C	3: 116,752,115	D679G		Het
Ankrd10	A	T	8: 11,612,548	V395D	probably damaging	Het
Ano5	A	G	7: 51,574,888	I531V	probably damaging	Het
Apol9a	T	A	15: 77,404,561	H202L	possibly damaging	Het
Atp6v1c2	A	C	12: 17,301,214	I105M	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Coro1b	T	C	19: 4,150,221		probably null	Het
D930020B18Rik	A	G	10: 121,656,226		probably benign	Het
Dcst2	T	C	3: 89,368,714	F384S	possibly damaging	Het
Ddx39	T	A	8: 83,720,966	F147I	possibly damaging	Het
Drosha	A	G	15: 12,842,422	E393G	probably damaging	Het
Etfdh	T	C	3: 79,623,579	Y45C	probably damaging	Het
Fam20c	G	T	5: 138,793,199	E287D	possibly damaging	Het
Flnc	T	A	6: 29,459,010	D2463E	probably damaging	Het
Flt4	A	T	11: 49,644,371	I1209F	possibly damaging	Het
Foxp1	T	C	6: 98,945,560	D437G	unknown	Het
Fras1	T	C	5: 96,740,854	V2753A	possibly damaging	Het
Ftsj3	T	C	11: 106,252,987	D277G	possibly damaging	Het
Gad1	T	C	2: 70,563,912		probably null	Het
Gal3st2c	A	G	1: 94,009,353	Y340C	probably damaging	Het
Gbp9	A	G	5: 105,085,109	F226L	probably damaging	Het
Gm11992	C	T	11: 9,052,747	P37S	possibly damaging	Het
Gm19668	G	T	10: 77,798,738	C132*	probably null	Het
Hdac3	A	T	18: 37,945,516	F139I	possibly damaging	Het
Hectd4	A	G	5: 121,315,510		probably null	Het
Helz	T	A	11: 107,600,278	S162T	possibly damaging	Het
Hspb6	C	A	7: 30,554,287	S75Y	probably damaging	Het
Il17rb	T	A	14: 29,997,043	I361F	probably damaging	Het
Iqsec3	A	T	6: 121,387,780	V850D	probably damaging	Het
Knl1	A	G	2: 119,094,006	E1840G	possibly damaging	Het
Lamc3	A	G	2: 31,922,368	K939R	probably benign	Het
Lmo7	C	T	14: 101,887,226	R496*	probably null	Het
Lsm14a	A	T	7: 34,353,401	C374*	probably null	Het
Luc7l	T	C	17: 26,255,115	L49P	probably damaging	Het
Mdga2	A	C	12: 66,473,229	C988G	probably damaging	Het
Mtf1	T	C	4: 124,820,206	V136A	probably damaging	Het
Myo7b	T	A	18: 31,983,360	I1016F	probably benign	Het
Nadsyn1	C	A	7: 143,808,067	A306S	probably benign	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Nr4a1	T	C	15: 101,270,899	V272A	probably damaging	Het
Olfr504	C	T	7: 108,565,556	A80T	probably damaging	Het
Olfr538	T	A	7: 140,574,443	C97S	probably damaging	Het
Olfr654	C	A	7: 104,587,880	H25Q	probably damaging	Het
Opcml	A	T	9: 28,903,324	T291S	probably benign	Het
Osbp2	C	G	11: 3,712,493	K196N	probably damaging	Het
Otoa	T	C	7: 121,143,926	V792A	probably damaging	Het
Pcmtd1	A	G	1: 7,169,542	D245G	probably damaging	Het
Pcnx	T	C	12: 81,993,122	V1428A	unknown	Het
Pik3r4	A	G	9: 105,678,153	H1103R	probably benign	Het
Pjvk	C	T	2: 76,655,810	H185Y	probably benign	Het
Pkd1l3	T	C	8: 109,624,440	V639A	probably benign	Het
Pklr	T	C	3: 89,143,058	S405P	probably damaging	Het
Pla2g12a	T	A	3: 129,878,920	Y68N	probably damaging	Het
Proz	A	G	8: 13,063,455	H92R	probably benign	Het
Sec23ip	G	T	7: 128,777,350	V844F	possibly damaging	Het
Sema3f	A	G	9: 107,684,578	V520A	possibly damaging	Het
Serpinb12	A	G	1: 106,953,723	I197V	probably damaging	Het
Sim2	A	T	16: 94,109,359	I207F	possibly damaging	Het
Slc15a2	C	T	16: 36,751,897	V702I	probably benign	Het
Slc35f4	T	C	14: 49,304,275	I341V	probably benign	Het
Spam1	A	G	6: 24,800,453	Y397C	probably damaging	Het
Srcap	T	C	7: 127,530,550	S515P	unknown	Het
Tfrc	T	A	16: 32,621,417		probably null	Het
Topors	A	G	4: 40,261,401	S628P	unknown	Het
Trim71	T	C	9: 114,513,042	Y724C	probably damaging	Het
Ttn	C	T	2: 76,792,855	V15413I	probably damaging	Het
Vmn1r21	A	T	6: 57,844,242	N72K	probably damaging	Het
Vmn2r80	A	T	10: 79,194,625	M762L	probably benign	Het
Wdr62	A	G	7: 30,270,773	I203T	probably damaging	Het

Other mutations in Spire1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Spire1	APN	18	67529015	missense	probably damaging	1.00
IGL01639:Spire1	APN	18	67545668	missense	possibly damaging	0.74
IGL02334:Spire1	APN	18	67506655	missense	probably benign	0.00
PIT4677001:Spire1	UTSW	18	67491365	missense	probably damaging	1.00
R0457:Spire1	UTSW	18	67552600	missense	probably damaging	0.98
R0531:Spire1	UTSW	18	67491305	missense	probably damaging	1.00
R0608:Spire1	UTSW	18	67528875	missense	probably damaging	0.99
R2098:Spire1	UTSW	18	67503466	missense	probably damaging	0.99
R2299:Spire1	UTSW	18	67530423	missense	probably damaging	1.00
R3028:Spire1	UTSW	18	67491347	missense	probably damaging	1.00
R3815:Spire1	UTSW	18	67506663	missense	probably benign	0.05
R4049:Spire1	UTSW	18	67529031	splice site	probably null
R4050:Spire1	UTSW	18	67529031	splice site	probably null
R4059:Spire1	UTSW	18	67545713	missense	probably damaging	0.98
R4109:Spire1	UTSW	18	67497217	missense	probably damaging	1.00
R4700:Spire1	UTSW	18	67512865	missense	probably benign	0.01
R4941:Spire1	UTSW	18	67519314	missense	possibly damaging	0.54
R4995:Spire1	UTSW	18	67552779	splice site	probably null
R5363:Spire1	UTSW	18	67506555	missense	probably damaging	1.00
R5561:Spire1	UTSW	18	67506646	missense	probably damaging	0.96
R5795:Spire1	UTSW	18	67495195	missense	probably benign
R5952:Spire1	UTSW	18	67506709	missense	probably benign	0.00
R5982:Spire1	UTSW	18	67497316	critical splice acceptor site	probably null
R7388:Spire1	UTSW	18	67519880	missense	probably damaging	1.00
R8006:Spire1	UTSW	18	67501181	nonsense	probably null
R8111:Spire1	UTSW	18	67519321	missense	probably damaging	0.98
R8675:Spire1	UTSW	18	67491308	missense	possibly damaging	0.48
R8946:Spire1	UTSW	18	67496616	missense	probably damaging	1.00
R9441:Spire1	UTSW	18	67519392	missense	probably benign	0.41
T0970:Spire1	UTSW	18	67501063	splice site	probably null
Z1088:Spire1	UTSW	18	67495152	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TTCTCCATTGAGATCACAGCATG -3'
(R):5'- TTGCAGGTCACTTGTTCAGC -3'

Sequencing Primer
(F):5'- GCGTCCTATACAAGATTGGAATCAGC -3'
(R):5'- GCAGGTCACTTGTTCAGCATTTTC -3'

Posted On

2019-10-17