Mutagenetix > Incidental Mutation

Incidental Mutation 'R4050:Spire1'

314138

Institutional Source

Beutler Lab

Gene Symbol

Spire1

Ensembl Gene

ENSMUSG00000024533

Gene Name

spire type actin nucleation factor 1

Synonyms

6030430B19Rik, Spir-1

MMRRC Submission

040968-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R4050 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67488209-67610790 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 67529031 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153492 (fasta)

Gene Model

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

AlphaFold

Q52KF3

Predicted Effect

probably null
Transcript: ENSMUST00000045105

SMART Domains

Protein: ENSMUSP00000049336
Gene: ENSMUSG00000024533

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 null
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 null
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 null
Transcript: ENSMUST00000224799

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

97% (58/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 147,944,992 (GRCm38)	D473G	probably damaging	Het
9530053A07Rik	T	C	7: 28,152,985 (GRCm38)	V1311A	possibly damaging	Het
Abca1	T	A	4: 53,044,144 (GRCm38)	Q1826L	probably damaging	Het
Apob	G	A	12: 8,015,390 (GRCm38)	V4087I	probably benign	Het
Atp10b	G	A	11: 43,259,536 (GRCm38)	A1354T	probably benign	Het
Baz1a	A	G	12: 54,929,619 (GRCm38)	V424A	probably benign	Het
Cdc20b	G	A	13: 113,064,285 (GRCm38)	D180N	probably benign	Het
Cep57l1	G	T	10: 41,729,360 (GRCm38)	R130S	probably damaging	Het
Ddb1	A	G	19: 10,627,807 (GRCm38)	D1053G	probably benign	Het
Ddx39	T	A	8: 83,722,234 (GRCm38)	M246K	probably benign	Het
Dip2a	G	A	10: 76,278,607 (GRCm38)	T1013M	probably damaging	Het
Edar	G	T	10: 58,609,947 (GRCm38)	T265N	possibly damaging	Het
Fam207a	T	C	10: 77,514,330 (GRCm38)	R75G	possibly damaging	Het
Fam208b	A	G	13: 3,573,507 (GRCm38)	S2148P	probably benign	Het
Gbp8	T	A	5: 105,031,238 (GRCm38)	I132F	probably damaging	Het
Gga1	A	G	15: 78,891,491 (GRCm38)	D382G	probably benign	Het
Ggps1	T	C	13: 14,053,699 (GRCm38)	K300E	probably benign	Het
Gm10518	C	A	1: 179,803,813 (GRCm38)		probably benign	Het
Gm13078	T	C	4: 143,727,122 (GRCm38)	S267P	probably benign	Het
Gm8074	G	A	9: 78,322,336 (GRCm38)		noncoding transcript	Het
H2-Eb1	T	A	17: 34,314,368 (GRCm38)	L188Q	probably damaging	Het
Heatr6	A	G	11: 83,755,773 (GRCm38)	S95G	probably damaging	Het
Hnf1a	T	A	5: 114,970,574 (GRCm38)	N91Y	probably damaging	Het
Ints10	C	T	8: 68,827,351 (GRCm38)	S710F	probably damaging	Het
Kazn	C	T	4: 142,106,904 (GRCm38)	E614K	unknown	Het
Kif26a	T	A	12: 112,179,916 (GRCm38)	M1812K	probably benign	Het
Lmo7	A	T	14: 101,902,277 (GRCm38)	K488*	probably null	Het
Mad1l1	A	G	5: 140,132,816 (GRCm38)	S457P	probably damaging	Het
Met	A	G	6: 17,533,984 (GRCm38)	T645A	probably benign	Het
Mpp4	T	C	1: 59,146,744 (GRCm38)		probably null	Het
Mycl	A	T	4: 122,996,839 (GRCm38)		probably null	Het
Ncbp1	G	A	4: 46,147,483 (GRCm38)	R110H	probably damaging	Het
Nfasc	G	T	1: 132,610,305 (GRCm38)		probably benign	Het
Nup35	A	G	2: 80,655,976 (GRCm38)	I212V	probably benign	Het
Olfr1181	A	G	2: 88,423,623 (GRCm38)	M134T	probably damaging	Het
Olfr1373	T	G	11: 52,145,134 (GRCm38)	Y132S	probably damaging	Het
Ovgp1	T	C	3: 105,986,567 (GRCm38)		probably benign	Het
Ovgp1	A	G	3: 105,986,596 (GRCm38)		probably benign	Het
Pcgf5	G	A	19: 36,442,911 (GRCm38)	S181N	probably damaging	Het
Plk2	C	T	13: 110,399,866 (GRCm38)	T617I	probably damaging	Het
Polq	A	T	16: 37,092,820 (GRCm38)		probably null	Het
Ppp1r1a	A	G	15: 103,532,454 (GRCm38)	L92P	probably damaging	Het
Prg4	G	C	1: 150,454,759 (GRCm38)		probably benign	Het
Prune1	T	C	3: 95,262,231 (GRCm38)	K220R	possibly damaging	Het
Rab3gap2	G	A	1: 185,272,643 (GRCm38)		probably null	Het
Rufy4	T	C	1: 74,147,663 (GRCm38)	C537R	probably damaging	Het
Sall3	G	A	18: 80,971,482 (GRCm38)	A1005V	probably benign	Het
Samd15	T	G	12: 87,200,632 (GRCm38)	N30K	probably benign	Het
Scn8a	A	T	15: 101,013,413 (GRCm38)	K905*	probably null	Het
Scrib	G	A	15: 76,051,473 (GRCm38)	R1245W	possibly damaging	Het
Skint4	C	T	4: 112,124,614 (GRCm38)	S260L	probably benign	Het
Slc29a2	A	T	19: 5,029,453 (GRCm38)	M339L	possibly damaging	Het
Synpo2	T	C	3: 123,114,278 (GRCm38)	D463G	possibly damaging	Het
Taf4	C	A	2: 179,932,012 (GRCm38)	G688C	probably damaging	Het
Tpte	T	A	8: 22,365,984 (GRCm38)	V600E	probably damaging	Het
Ttn	A	G	2: 76,821,166 (GRCm38)	V10953A	probably benign	Het
Vav2	A	G	2: 27,291,403 (GRCm38)	S311P	probably damaging	Het
Vav2	T	C	2: 27,288,679 (GRCm38)	Y333C	probably benign	Het
Zbtb26	A	C	2: 37,436,988 (GRCm38)	M1R	probably null	Het
Zfp26	G	A	9: 20,442,229 (GRCm38)	P88L	probably benign	Het
Zfp324	T	C	7: 12,970,867 (GRCm38)	F328L	probably damaging	Het

Other mutations in Spire1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Spire1	APN	18	67,529,015 (GRCm38)	missense	probably damaging	1.00
IGL01639:Spire1	APN	18	67,545,668 (GRCm38)	missense	possibly damaging	0.74
IGL02334:Spire1	APN	18	67,506,655 (GRCm38)	missense	probably benign	0.00
PIT4677001:Spire1	UTSW	18	67,491,365 (GRCm38)	missense	probably damaging	1.00
R0457:Spire1	UTSW	18	67,552,600 (GRCm38)	missense	probably damaging	0.98
R0531:Spire1	UTSW	18	67,491,305 (GRCm38)	missense	probably damaging	1.00
R0608:Spire1	UTSW	18	67,528,875 (GRCm38)	missense	probably damaging	0.99
R2098:Spire1	UTSW	18	67,503,466 (GRCm38)	missense	probably damaging	0.99
R2299:Spire1	UTSW	18	67,530,423 (GRCm38)	missense	probably damaging	1.00
R3028:Spire1	UTSW	18	67,491,347 (GRCm38)	missense	probably damaging	1.00
R3815:Spire1	UTSW	18	67,506,663 (GRCm38)	missense	probably benign	0.05
R4049:Spire1	UTSW	18	67,529,031 (GRCm38)	splice site	probably null
R4059:Spire1	UTSW	18	67,545,713 (GRCm38)	missense	probably damaging	0.98
R4109:Spire1	UTSW	18	67,497,217 (GRCm38)	missense	probably damaging	1.00
R4700:Spire1	UTSW	18	67,512,865 (GRCm38)	missense	probably benign	0.01
R4941:Spire1	UTSW	18	67,519,314 (GRCm38)	missense	possibly damaging	0.54
R4995:Spire1	UTSW	18	67,552,779 (GRCm38)	splice site	probably null
R5363:Spire1	UTSW	18	67,506,555 (GRCm38)	missense	probably damaging	1.00
R5561:Spire1	UTSW	18	67,506,646 (GRCm38)	missense	probably damaging	0.96
R5795:Spire1	UTSW	18	67,495,195 (GRCm38)	missense	probably benign
R5952:Spire1	UTSW	18	67,506,709 (GRCm38)	missense	probably benign	0.00
R5982:Spire1	UTSW	18	67,497,316 (GRCm38)	critical splice acceptor site	probably null
R7388:Spire1	UTSW	18	67,519,880 (GRCm38)	missense	probably damaging	1.00
R7559:Spire1	UTSW	18	67,501,117 (GRCm38)	missense	probably benign	0.04
R8006:Spire1	UTSW	18	67,501,181 (GRCm38)	nonsense	probably null
R8111:Spire1	UTSW	18	67,519,321 (GRCm38)	missense	probably damaging	0.98
R8675:Spire1	UTSW	18	67,491,308 (GRCm38)	missense	possibly damaging	0.48
R8946:Spire1	UTSW	18	67,496,616 (GRCm38)	missense	probably damaging	1.00
R9441:Spire1	UTSW	18	67,519,392 (GRCm38)	missense	probably benign	0.41
R9706:Spire1	UTSW	18	67,503,438 (GRCm38)	missense	probably benign	0.39
T0970:Spire1	UTSW	18	67,501,063 (GRCm38)	splice site	probably null
Z1088:Spire1	UTSW	18	67,495,152 (GRCm38)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- GCCATCTGAGTGCTTACCATTAC -3'
(R):5'- ACTCCCTTCAGTAAGCAGATTC -3'

Sequencing Primer
(F):5'- AGTGCTTACCATTACTTTTCTCAAGG -3'
(R):5'- CTTCAGTAAGCAGATTCTCACAGTAG -3'

Posted On

2015-04-30