Mutagenetix > Incidental Mutation

Incidental Mutation 'R1919:Spire2'

212849

Institutional Source

Beutler Lab

Gene Symbol

Spire2

Ensembl Gene

ENSMUSG00000010154

Gene Name

spire type actin nucleation factor 2

Synonyms

Spir-2

MMRRC Submission

039937-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R1919 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123332713-123369515 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123363071 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 447 (D447G)

Ref Sequence

ENSEMBL: ENSMUSP00000148710 (fasta)

Gene Model

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

AlphaFold

Q8K1S6

Predicted Effect

probably benign
Transcript: ENSMUST00000010298
AA Change: D547G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000010298
Gene: ENSMUSG00000010154
AA Change: D547G

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 benign
Transcript: ENSMUST00000212404
AA Change: D447G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.0772

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,067,270 (GRCm38)	E740G	probably damaging	Het
4930474N05Rik	G	T	14: 36,095,457 (GRCm38)	V105F	possibly damaging	Het
Actr10	A	G	12: 70,942,330 (GRCm38)	I74M	probably benign	Het
Aen	T	C	7: 78,905,912 (GRCm38)	Y108H	probably damaging	Het
Afm	A	T	5: 90,524,920 (GRCm38)	K205*	probably null	Het
Ankrd27	T	A	7: 35,632,985 (GRCm38)	S846T	probably benign	Het
Ano3	A	G	2: 110,885,007 (GRCm38)	S29P	probably benign	Het
Apaf1	C	T	10: 91,077,614 (GRCm38)	W138*	probably null	Het
Arfgef1	C	T	1: 10,199,878 (GRCm38)	A349T	probably benign	Het
Arhgef4	A	G	1: 34,811,140 (GRCm38)	Q1798R	probably damaging	Het
Astn1	G	A	1: 158,509,971 (GRCm38)	V416I	probably damaging	Het
Atxn2l	G	A	7: 126,493,168 (GRCm38)	T70I	probably damaging	Het
Auh	G	A	13: 52,835,496 (GRCm38)	P308L	probably benign	Het
Bltp1	A	G	3: 37,006,983 (GRCm38)		probably null	Het
Bspry	T	A	4: 62,494,797 (GRCm38)	C256S	probably damaging	Het
C3	C	A	17: 57,220,135 (GRCm38)	W771C	probably damaging	Het
Camkv	A	G	9: 107,947,088 (GRCm38)	D233G	possibly damaging	Het
Catsperd	T	A	17: 56,635,548 (GRCm38)	V109E	probably damaging	Het
Cd101	A	G	3: 101,018,917 (GRCm38)	L162P	probably damaging	Het
Cdr2l	A	G	11: 115,392,777 (GRCm38)	T154A	probably damaging	Het
Clca3a2	G	C	3: 144,810,696 (GRCm38)	Q380E	probably benign	Het
Col6a3	T	C	1: 90,822,359 (GRCm38)	N251S	possibly damaging	Het
Cttnbp2nl	A	G	3: 105,011,278 (GRCm38)	V82A	possibly damaging	Het
Cux1	G	A	5: 136,363,319 (GRCm38)	Q194*	probably null	Het
Daam2	T	C	17: 49,485,457 (GRCm38)	E361G	probably benign	Het
Dcaf17	A	T	2: 71,078,172 (GRCm38)		probably null	Het
Dnai1	T	C	4: 41,570,020 (GRCm38)		probably null	Het
Eml5	T	C	12: 98,798,839 (GRCm38)	Y1617C	probably damaging	Het
Epb41l4b	T	C	4: 57,040,993 (GRCm38)	E490G	probably damaging	Het
Epha7	T	C	4: 28,963,969 (GRCm38)	M988T	possibly damaging	Het
Fancm	T	C	12: 65,105,520 (GRCm38)	C917R	possibly damaging	Het
Fnip1	C	T	11: 54,480,684 (GRCm38)	T177I	probably damaging	Het
Gm3604	G	T	13: 62,369,942 (GRCm38)	H201N	probably benign	Het
Gnpda1	T	C	18: 38,333,190 (GRCm38)		probably null	Het
Gpatch8	A	G	11: 102,508,142 (GRCm38)		probably null	Het
H2-M3	T	C	17: 37,271,189 (GRCm38)	Y179H	possibly damaging	Het
H2-Q10	C	A	17: 35,470,488 (GRCm38)	S62R	probably damaging	Het
Hipk2	G	A	6: 38,818,984 (GRCm38)	R117*	probably null	Het
Hrg	A	T	16: 22,954,457 (GRCm38)	Q113H	probably damaging	Het
Kcnj16	T	C	11: 111,024,953 (GRCm38)	V147A	possibly damaging	Het
Kif1a	T	C	1: 93,019,031 (GRCm38)	I1650V	possibly damaging	Het
Kmt2a	C	T	9: 44,820,345 (GRCm38)		probably benign	Het
Krt90	A	T	15: 101,557,230 (GRCm38)	Y319N	probably damaging	Het
Lipo4	T	C	19: 33,499,271 (GRCm38)	N359S	possibly damaging	Het
Lrp1b	G	T	2: 41,728,729 (GRCm38)	T225K	probably benign	Het
Map1a	C	T	2: 121,307,012 (GRCm38)	P2532S	probably damaging	Het
Mmrn2	A	G	14: 34,397,643 (GRCm38)	D193G	probably benign	Het
Mpped2	T	A	2: 106,867,032 (GRCm38)	I284N	probably damaging	Het
Msh6	A	G	17: 87,985,125 (GRCm38)	H436R	probably benign	Het
Mterf3	A	T	13: 66,930,062 (GRCm38)	S48T	probably damaging	Het
Muc5b	T	C	7: 141,846,031 (GRCm38)	F414L	unknown	Het
Mylk4	A	T	13: 32,724,853 (GRCm38)	D90E	probably benign	Het
Nherf4	T	C	9: 44,250,303 (GRCm38)	D93G	possibly damaging	Het
Nploc4	A	G	11: 120,404,229 (GRCm38)	Y420H	probably damaging	Het
Npr2	T	A	4: 43,640,578 (GRCm38)	Y344N	probably damaging	Het
Nsun5	A	G	5: 135,375,598 (GRCm38)	T397A	probably benign	Het
Ntsr2	A	T	12: 16,654,110 (GRCm38)	Q204L	probably damaging	Het
Nwd2	T	A	5: 63,806,180 (GRCm38)	Y1036N	probably damaging	Het
Oacyl	T	C	18: 65,710,547 (GRCm38)	V105A	possibly damaging	Het
Or6c2	T	A	10: 129,527,049 (GRCm38)	V274D	probably damaging	Het
Parp3	T	A	9: 106,475,117 (GRCm38)	Q70L	possibly damaging	Het
Parp4	T	C	14: 56,624,017 (GRCm38)	S936P	probably damaging	Het
Phkb	A	G	8: 85,922,161 (GRCm38)	E202G	probably benign	Het
Pink1	T	C	4: 138,314,020 (GRCm38)	N530S	probably benign	Het
Pou3f2	T	C	4: 22,487,119 (GRCm38)	D338G	probably damaging	Het
Prss8	G	T	7: 127,929,858 (GRCm38)	L9I	probably benign	Het
Ptpn22	G	A	3: 103,876,738 (GRCm38)		probably null	Het
Rad54b	A	C	4: 11,601,693 (GRCm38)	N416T	probably damaging	Het
Rasef	A	G	4: 73,744,114 (GRCm38)	S200P	possibly damaging	Het
Rb1	T	A	14: 73,212,990 (GRCm38)	K645*	probably null	Het
Robo2	C	T	16: 73,899,154 (GRCm38)	G1367D	probably benign	Het
Rp1	A	G	1: 4,352,671 (GRCm38)	V52A	probably damaging	Het
Samd13	T	C	3: 146,662,712 (GRCm38)	T23A	probably benign	Het
Scn7a	T	C	2: 66,699,973 (GRCm38)	H676R	probably damaging	Het
Serpinb6b	A	G	13: 32,978,240 (GRCm38)	I222V	probably benign	Het
Slc2a8	T	C	2: 32,980,079 (GRCm38)	Y150C	probably damaging	Het
Slc7a6os	C	A	8: 106,210,564 (GRCm38)	R88L	probably damaging	Het
Slc8a2	A	G	7: 16,152,920 (GRCm38)	I657V	probably benign	Het
Slit2	C	A	5: 48,191,016 (GRCm38)		probably benign	Het
Sptlc3	A	G	2: 139,566,675 (GRCm38)	N237D	possibly damaging	Het
Stk3	G	A	15: 35,073,217 (GRCm38)	T119I	probably damaging	Het
Suv39h2	G	A	2: 3,464,316 (GRCm38)	T334I	probably damaging	Het
Syt5	G	T	7: 4,540,279 (GRCm38)	T327N	probably damaging	Het
Tcof1	T	C	18: 60,816,084 (GRCm38)	D1253G	possibly damaging	Het
Timd5	A	G	11: 46,528,531 (GRCm38)	D58G	possibly damaging	Het
Tnks	A	T	8: 34,875,232 (GRCm38)	V388D	probably damaging	Het
Ugt2b1	T	C	5: 86,926,000 (GRCm38)	T167A	probably benign	Het
Usp40	G	A	1: 87,995,842 (GRCm38)	R236C	possibly damaging	Het
Utrn	T	C	10: 12,455,480 (GRCm38)	D2904G	probably benign	Het
Vmn1r226	T	C	17: 20,687,580 (GRCm38)	S25P	probably damaging	Het
Vmn2r23	T	C	6: 123,713,010 (GRCm38)	S282P	possibly damaging	Het
Vps45	T	C	3: 96,046,440 (GRCm38)	E200G	probably benign	Het
Wnt7b	T	A	15: 85,559,080 (GRCm38)	I41F	probably damaging	Het
Zmym6	T	A	4: 127,103,414 (GRCm38)	N275K	probably damaging	Het

Other mutations in Spire2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Spire2	APN	8	123,354,059 (GRCm38)	missense	probably damaging	1.00
IGL01610:Spire2	APN	8	123,356,763 (GRCm38)	missense	probably damaging	1.00
IGL01611:Spire2	APN	8	123,359,398 (GRCm38)	missense	probably damaging	1.00
IGL01776:Spire2	APN	8	123,359,392 (GRCm38)	missense	probably damaging	0.98
IGL02164:Spire2	APN	8	123,332,964 (GRCm38)	missense	probably damaging	0.99
IGL03005:Spire2	APN	8	123,363,368 (GRCm38)	missense	probably benign	0.16
R0127:Spire2	UTSW	8	123,358,097 (GRCm38)	splice site	probably benign
R0194:Spire2	UTSW	8	123,363,011 (GRCm38)	splice site	probably benign
R0571:Spire2	UTSW	8	123,354,116 (GRCm38)	missense	probably damaging	1.00
R1386:Spire2	UTSW	8	123,361,366 (GRCm38)	critical splice donor site	probably null
R1526:Spire2	UTSW	8	123,368,763 (GRCm38)	missense	probably benign	0.08
R1538:Spire2	UTSW	8	123,358,156 (GRCm38)	missense	probably damaging	1.00
R1917:Spire2	UTSW	8	123,363,071 (GRCm38)	missense	probably benign	0.00
R2018:Spire2	UTSW	8	123,332,918 (GRCm38)	missense	probably damaging	1.00
R2019:Spire2	UTSW	8	123,332,918 (GRCm38)	missense	probably damaging	1.00
R4524:Spire2	UTSW	8	123,360,235 (GRCm38)	missense	probably benign
R4672:Spire2	UTSW	8	123,358,111 (GRCm38)	missense	probably benign	0.06
R4931:Spire2	UTSW	8	123,368,784 (GRCm38)	missense	possibly damaging	0.54
R4973:Spire2	UTSW	8	123,356,844 (GRCm38)	missense	probably damaging	1.00
R5057:Spire2	UTSW	8	123,358,201 (GRCm38)	missense	probably damaging	1.00
R5702:Spire2	UTSW	8	123,346,663 (GRCm38)	missense	probably benign	0.07
R5899:Spire2	UTSW	8	123,354,094 (GRCm38)	missense	probably damaging	1.00
R6747:Spire2	UTSW	8	123,356,846 (GRCm38)	missense	probably damaging	1.00
R6816:Spire2	UTSW	8	123,359,413 (GRCm38)	missense	probably benign	0.12
R6823:Spire2	UTSW	8	123,356,727 (GRCm38)	missense	probably damaging	1.00
R7146:Spire2	UTSW	8	123,369,250 (GRCm38)	missense	probably benign	0.08
R7851:Spire2	UTSW	8	123,356,699 (GRCm38)	splice site	probably null
R7903:Spire2	UTSW	8	123,368,750 (GRCm38)	missense	probably benign
R7923:Spire2	UTSW	8	123,332,987 (GRCm38)	missense	probably benign	0.00
R8181:Spire2	UTSW	8	123,361,303 (GRCm38)	missense	probably damaging	0.99
R8673:Spire2	UTSW	8	123,360,128 (GRCm38)	missense	probably damaging	1.00
R9057:Spire2	UTSW	8	123,368,808 (GRCm38)	unclassified	probably benign
R9404:Spire2	UTSW	8	123,363,338 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGGAGAACCTTATGCAGTAGC -3'
(R):5'- TCCCAACATGTAACTGCCTTG -3'

Sequencing Primer
(F):5'- AGTAGCAGGGCCTCCTTGAG -3'
(R):5'- CAACATGTAACTGCCTTGGGGTTTC -3'

Posted On

2014-07-14