Mutagenetix > Incidental Mutation

Incidental Mutation 'R5982:Spire1'

481508

Institutional Source

Beutler Lab

Gene Symbol

Spire1

Ensembl Gene

ENSMUSG00000024533

Gene Name

spire type actin nucleation factor 1

Synonyms

6030430B19Rik, Spir-1

MMRRC Submission

044163-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.281) question?

Stock #

R5982 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67621279-67743860 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 67630386 bp (GRCm39)

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: ENSMUST00000224122

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224659

Predicted Effect

probably null
Transcript: ENSMUST00000224799

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226000

Meta Mutation Damage Score

0.9495

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

98% (81/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,844,423 (GRCm39)	E931D	possibly damaging	Het
Aebp1	C	T	11: 5,817,911 (GRCm39)	T62I	possibly damaging	Het
Babam2	A	T	5: 31,977,964 (GRCm39)	E139V	possibly damaging	Het
Bclaf1	C	T	10: 20,198,809 (GRCm39)	R67*	probably null	Het
Bcr	C	A	10: 75,012,248 (GRCm39)	T51K	probably benign	Het
Best3	T	A	10: 116,840,322 (GRCm39)	C251S	probably damaging	Het
Birc6	A	G	17: 74,955,153 (GRCm39)	M3457V	probably benign	Het
C87436	C	A	6: 86,422,957 (GRCm39)	T177K	possibly damaging	Het
Cabin1	T	A	10: 75,561,394 (GRCm39)	T1036S	probably benign	Het
Catsperg2	C	A	7: 29,412,442 (GRCm39)	V383L	possibly damaging	Het
Ccdc182	C	T	11: 88,185,165 (GRCm39)	Q82*	probably null	Het
Ccl9	T	C	11: 83,466,700 (GRCm39)	T76A	probably damaging	Het
Cdc16	G	T	8: 13,831,399 (GRCm39)	C544F	possibly damaging	Het
Cdh18	A	C	15: 23,474,302 (GRCm39)	D724A	possibly damaging	Het
Cdip1	G	A	16: 4,587,946 (GRCm39)	P6S	probably damaging	Het
Col12a1	A	G	9: 79,537,842 (GRCm39)	V2542A	probably damaging	Het
Dnajc13	G	T	9: 104,061,814 (GRCm39)	T1380K	possibly damaging	Het
Dsg4	T	A	18: 20,598,226 (GRCm39)	S715T	possibly damaging	Het
Dync2h1	G	T	9: 6,955,986 (GRCm39)	T4132K	probably benign	Het
Egfem1	A	T	3: 29,711,419 (GRCm39)		probably null	Het
Etl4	G	T	2: 20,785,826 (GRCm39)	V716L	probably damaging	Het
Exoc3l2	A	G	7: 19,213,957 (GRCm39)	E461G	unknown	Het
Fam135b	A	G	15: 71,320,518 (GRCm39)		probably null	Het
Flrt3	G	T	2: 140,502,836 (GRCm39)	P264Q	possibly damaging	Het
Fmn2	G	C	1: 174,330,019 (GRCm39)	E136D	unknown	Het
Fosl2	A	G	5: 32,304,217 (GRCm39)	I51V	probably benign	Het
Foxm1	A	G	6: 128,347,998 (GRCm39)	T307A	probably damaging	Het
Garem1	T	C	18: 21,281,408 (GRCm39)	D316G	possibly damaging	Het
Gm14403	A	T	2: 177,200,345 (GRCm39)	H97L	probably damaging	Het
Gm5616	A	G	9: 48,361,890 (GRCm39)		noncoding transcript	Het
Hkdc1	T	C	10: 62,229,589 (GRCm39)	D696G	probably benign	Het
Igkv1-88	C	A	6: 68,839,432 (GRCm39)	W60L	probably damaging	Het
Iqgap3	G	A	3: 87,998,899 (GRCm39)	W333*	probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnk3	G	T	5: 30,780,014 (GRCm39)	V355L	probably benign	Het
Kmt5c	A	C	7: 4,749,790 (GRCm39)	K436T	probably damaging	Het
Lynx1	T	C	15: 74,623,264 (GRCm39)	Y56C	possibly damaging	Het
Lypd5	T	C	7: 24,052,462 (GRCm39)	S149P	probably damaging	Het
Map3k21	A	T	8: 126,638,169 (GRCm39)	N252Y	probably damaging	Het
Mgat2	T	C	12: 69,232,454 (GRCm39)	W343R	probably damaging	Het
Misp	T	G	10: 79,663,728 (GRCm39)	Y567*	probably null	Het
Mrgprb1	A	T	7: 48,097,568 (GRCm39)	S115T	probably benign	Het
Muc16	A	C	9: 18,558,442 (GRCm39)	I2617R	unknown	Het
Myo19	T	A	11: 84,790,226 (GRCm39)	V394E	probably damaging	Het
Myo9b	T	A	8: 71,801,040 (GRCm39)	L1065Q	probably benign	Het
Nap1l1	A	G	10: 111,331,229 (GRCm39)	D405G	possibly damaging	Het
Napb	A	T	2: 148,542,411 (GRCm39)		probably null	Het
Nbas	A	G	12: 13,443,431 (GRCm39)	Y1162C	probably benign	Het
Nfam1	A	T	15: 82,917,325 (GRCm39)	L36Q	probably damaging	Het
Nrros	T	C	16: 31,963,411 (GRCm39)	D202G	probably damaging	Het
Or51k1	T	G	7: 103,661,117 (GRCm39)	H264P	probably damaging	Het
Or7a39	T	G	10: 78,715,787 (GRCm39)	Y260*	probably null	Het
Osgin2	T	C	4: 15,998,908 (GRCm39)	E238G	probably benign	Het
Papss2	A	G	19: 32,616,636 (GRCm39)	T221A	probably benign	Het
Pcdhga12	A	C	18: 37,901,084 (GRCm39)	K639Q	probably damaging	Het
Pkhd1l1	T	A	15: 44,352,900 (GRCm39)		probably null	Het
Pmepa1	A	G	2: 173,076,105 (GRCm39)	S83P	possibly damaging	Het
Pnp	G	A	14: 51,188,000 (GRCm39)	V118M	probably damaging	Het
Ppat	T	C	5: 77,063,112 (GRCm39)	T500A	probably benign	Het
Pramel22	C	A	4: 143,381,034 (GRCm39)	V330F	probably damaging	Het
Rab11fip4	A	G	11: 79,581,601 (GRCm39)	N532S	probably benign	Het
Rbm25	A	G	12: 83,718,725 (GRCm39)	D499G	probably damaging	Het
Rnf139	A	G	15: 58,770,687 (GRCm39)	I237M	possibly damaging	Het
Rrp15	C	T	1: 186,471,952 (GRCm39)	S85N	possibly damaging	Het
Sidt1	T	C	16: 44,082,071 (GRCm39)	Y568C	probably damaging	Het
Slirp	A	G	12: 87,490,784 (GRCm39)	T29A	probably damaging	Het
Sltm	G	C	9: 70,494,086 (GRCm39)	E828Q	probably damaging	Het
Spindoc	A	G	19: 7,351,960 (GRCm39)	I129T	probably damaging	Het
Styx	A	G	14: 45,605,909 (GRCm39)	T138A	probably benign	Het
Sv2c	A	T	13: 96,112,571 (GRCm39)	L642*	probably null	Het
Taf7	T	C	18: 37,776,498 (GRCm39)	E23G	probably damaging	Het
Tcp10a	A	T	17: 7,612,425 (GRCm39)	T406S	possibly damaging	Het
Tnrc6b	T	A	15: 80,765,017 (GRCm39)	S840T	probably benign	Het
Tns3	A	G	11: 8,442,245 (GRCm39)	I706T	probably damaging	Het
Tpsab1	A	G	17: 25,564,346 (GRCm39)	V36A	probably benign	Het
Trafd1	T	A	5: 121,511,342 (GRCm39)	D492V	probably damaging	Het
Trp53	A	G	11: 69,478,244 (GRCm39)	E51G	probably benign	Het
Vdr	C	T	15: 97,755,477 (GRCm39)	A349T	probably benign	Het
Vmn2r59	T	C	7: 41,695,491 (GRCm39)	D307G	probably benign	Het
Zfp365	C	A	10: 67,733,437 (GRCm39)	V252F	probably damaging	Het
Zfp830	T	A	11: 82,655,803 (GRCm39)	N202K	probably benign	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
R5561:Spire1	UTSW	18	67,639,716 (GRCm39)	missense	probably damaging	0.96
R5795:Spire1	UTSW	18	67,628,265 (GRCm39)	missense	probably benign
R5952:Spire1	UTSW	18	67,639,779 (GRCm39)	missense	probably benign	0.00
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'- AGGCCTCTTACACAAGACCATG -3'
(R):5'- TGTTTCACTCTGGTCAAGGTC -3'

Sequencing Primer
(F):5'- ATGACTGGCCATTCTTACATTGG -3'
(R):5'- CCTGTTTTCTTCAGTGCACTTAGGAG -3'

Posted On

2017-06-26