Mutagenetix > Incidental Mutation

Incidental Mutation 'R0194:Spire2'

60717

Institutional Source

Beutler Lab

Gene Symbol

Spire2

Ensembl Gene

ENSMUSG00000010154

Gene Name

spire type actin nucleation factor 2

Synonyms

Spir-2

MMRRC Submission

038453-MU

Accession Numbers

Essential gene?

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

Stock #

R0194 (G1)

Quality Score

141

Status

Validated

Chromosome

Chromosomal Location

123332713-123369515 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 123363011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148710 (fasta)

Gene Model

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

AlphaFold

Q8K1S6

Predicted Effect

probably benign
Transcript: ENSMUST00000010298

SMART Domains

Protein: ENSMUSP00000010298
Gene: ENSMUSG00000010154

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

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 91.4%
20x: 70.1%

Validation Efficiency

91% (439/482)

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	A	4: 88,868,243 (GRCm38)	D46V	unknown	Het
Abcb9	A	G	5: 124,077,295 (GRCm38)	V461A	probably damaging	Het
Ackr4	T	A	9: 104,099,480 (GRCm38)	L89F	probably benign	Het
Acsf2	T	C	11: 94,561,370 (GRCm38)	T449A	probably benign	Het
Acsl4	C	G	X: 142,333,718 (GRCm38)	G489R	probably damaging	Het
Actl6a	T	A	3: 32,725,320 (GRCm38)	I399N	probably damaging	Het
Adamts19	G	A	18: 59,011,148 (GRCm38)	C934Y	probably null	Het
Adsl	A	G	15: 80,961,360 (GRCm38)	E40G	possibly damaging	Het
Alppl2	T	G	1: 87,088,743 (GRCm38)	D203A	probably damaging	Het
Asb10	C	A	5: 24,537,932 (GRCm38)	A268S	probably benign	Het
Atp9a	T	C	2: 168,643,885 (GRCm38)	S832G	probably benign	Het
Bckdha	A	T	7: 25,631,450 (GRCm38)	I297N	probably damaging	Het
Blm	G	A	7: 80,464,946 (GRCm38)		probably benign	Het
C9orf72	T	A	4: 35,197,207 (GRCm38)	D122V	probably damaging	Het
Cacna1h	A	G	17: 25,380,924 (GRCm38)		probably benign	Het
Camsap2	G	A	1: 136,292,948 (GRCm38)	Q298*	probably null	Het
Ccdc38	A	T	10: 93,565,912 (GRCm38)	K145*	probably null	Het
Cfap45	C	T	1: 172,541,327 (GRCm38)	T434M	probably benign	Het
Cfap54	A	T	10: 93,034,662 (GRCm38)		probably benign	Het
Clcn6	G	A	4: 148,012,756 (GRCm38)	P618L	probably damaging	Het
Copg1	T	C	6: 87,904,197 (GRCm38)		probably benign	Het
Dctd	T	A	8: 48,112,078 (GRCm38)	N79K	probably benign	Het
Dgkq	A	G	5: 108,654,644 (GRCm38)		probably benign	Het
Dntt	A	T	19: 41,038,970 (GRCm38)	T159S	possibly damaging	Het
Doc2g	G	A	19: 4,003,656 (GRCm38)	R29Q	probably benign	Het
Dsg3	A	G	18: 20,540,142 (GRCm38)	T957A	probably damaging	Het
Eif3c	T	A	7: 126,558,623 (GRCm38)		probably benign	Het
Ephb3	T	A	16: 21,218,109 (GRCm38)	D107E	probably benign	Het
Esrrb	A	T	12: 86,470,481 (GRCm38)	D108V	probably damaging	Het
Exo1	A	G	1: 175,892,030 (GRCm38)	K214E	probably damaging	Het
Fam186a	G	A	15: 99,941,763 (GRCm38)	T2200I	possibly damaging	Het
Fam227a	C	T	15: 79,640,669 (GRCm38)	W194*	probably null	Het
Foxn4	A	G	5: 114,259,748 (GRCm38)		probably null	Het
Gabbr2	T	C	4: 46,787,565 (GRCm38)	K366R	possibly damaging	Het
Garem2	T	A	5: 30,113,930 (GRCm38)	V130E	probably damaging	Het
Grin2b	A	G	6: 135,779,305 (GRCm38)	F474S	probably damaging	Het
H2-M10.6	G	T	17: 36,814,042 (GRCm38)	V284F	probably damaging	Het
Helz2	C	A	2: 181,232,759 (GRCm38)	G1981C	probably damaging	Het
Hivep1	G	T	13: 42,155,435 (GRCm38)	V384F	probably damaging	Het
Hmox1	A	G	8: 75,097,108 (GRCm38)	T135A	probably damaging	Het
Hpse	T	C	5: 100,719,512 (GRCm38)	D28G	probably benign	Het
Itm2b	G	T	14: 73,364,618 (GRCm38)	D213E	probably benign	Het
Jakmip1	T	A	5: 37,134,283 (GRCm38)	M692K	possibly damaging	Het
Kdm3a	T	C	6: 71,624,594 (GRCm38)	Q151R	probably null	Het
Limch1	C	A	5: 66,999,273 (GRCm38)	A517E	probably benign	Het
Lrit1	T	A	14: 37,061,720 (GRCm38)	L335Q	probably damaging	Het
Lrrc37a	A	G	11: 103,499,790 (GRCm38)	V1603A	possibly damaging	Het
Mbtps1	T	A	8: 119,535,369 (GRCm38)	N347I	probably damaging	Het
Mier1	A	T	4: 103,139,519 (GRCm38)		probably null	Het
Mt2	A	T	8: 94,172,848 (GRCm38)	M1L	probably damaging	Het
Mug1	A	T	6: 121,840,107 (GRCm38)	E45V	probably damaging	Het
Mybphl	A	G	3: 108,374,168 (GRCm38)	K67E	probably benign	Het
Myh4	A	G	11: 67,252,336 (GRCm38)	K1030R	probably damaging	Het
Myl3	T	A	9: 110,769,121 (GRCm38)	D176E	probably benign	Het
Ncapg2	A	G	12: 116,420,683 (GRCm38)		probably null	Het
Ndor1	T	C	2: 25,248,706 (GRCm38)		probably null	Het
Nedd4	T	G	9: 72,670,053 (GRCm38)	N53K	possibly damaging	Het
Nek11	C	A	9: 105,392,952 (GRCm38)	A24S	probably benign	Het
Nudt19	G	T	7: 35,551,514 (GRCm38)	P267T	probably benign	Het
Olfml2b	T	C	1: 170,681,115 (GRCm38)	M514T	possibly damaging	Het
Or14a258	A	T	7: 86,386,374 (GRCm38)	C95*	probably null	Het
Or2ag17	C	A	7: 106,790,823 (GRCm38)	M59I	probably benign	Het
Or52i2	A	G	7: 102,670,199 (GRCm38)	D93G	probably benign	Het
Or6k4	A	T	1: 174,136,761 (GRCm38)	T6S	probably benign	Het
P3h1	T	A	4: 119,237,952 (GRCm38)	F302Y	probably damaging	Het
Pappa2	T	A	1: 158,765,101 (GRCm38)		probably benign	Het
Pex2	A	C	3: 5,561,364 (GRCm38)	H128Q	probably benign	Het
Phf11d	A	C	14: 59,352,731 (GRCm38)	L214R	probably damaging	Het
Plcg2	G	A	8: 117,573,397 (GRCm38)		probably benign	Het
Ppargc1b	A	C	18: 61,307,945 (GRCm38)	L634R	possibly damaging	Het
Prune1	A	T	3: 95,262,360 (GRCm38)	I177N	probably damaging	Het
Puf60	T	C	15: 76,070,485 (GRCm38)	D496G	probably damaging	Het
Rasl11b	A	G	5: 74,196,163 (GRCm38)		probably null	Het
Sdr42e1	A	T	8: 117,663,109 (GRCm38)	F264L	probably damaging	Het
Sec24b	A	T	3: 129,984,165 (GRCm38)		probably null	Het
Sgta	G	T	10: 81,051,059 (GRCm38)	P79T	probably benign	Het
Shisa9	C	T	16: 11,984,954 (GRCm38)	T125M	probably damaging	Het
Shoc1	T	A	4: 59,066,534 (GRCm38)		probably benign	Het
Slc12a2	A	G	18: 57,930,211 (GRCm38)	D921G	probably damaging	Het
Slc13a5	T	A	11: 72,262,130 (GRCm38)	I42L	possibly damaging	Het
Slc13a5	C	T	11: 72,245,233 (GRCm38)	V494I	probably benign	Het
Sptbn4	G	A	7: 27,404,911 (GRCm38)	R962C	probably benign	Het
St8sia5	G	A	18: 77,254,724 (GRCm38)	V377I	probably benign	Het
Stag2	T	G	X: 42,206,137 (GRCm38)		probably benign	Het
Syne1	C	A	10: 5,424,311 (GRCm38)	M165I	probably benign	Het
Synm	C	A	7: 67,734,924 (GRCm38)	V997L	probably damaging	Het
Tacc1	A	G	8: 25,182,376 (GRCm38)	S279P	probably benign	Het
Tbc1d10a	T	C	11: 4,212,901 (GRCm38)		probably null	Het
Tbc1d19	A	G	5: 53,860,156 (GRCm38)	T302A	probably damaging	Het
Tecpr1	A	C	5: 144,218,517 (GRCm38)	N74K	probably damaging	Het
Tmem120a	T	C	5: 135,742,398 (GRCm38)	E28G	possibly damaging	Het
Tnfrsf1b	A	T	4: 145,224,812 (GRCm38)	I186N	probably benign	Het
Trim55	A	G	3: 19,661,861 (GRCm38)	D195G	probably benign	Het
Trpm3	G	T	19: 22,715,356 (GRCm38)		probably null	Het
Ttc39a	T	A	4: 109,444,179 (GRCm38)	S571T	probably benign	Het
Vwf	T	G	6: 125,643,297 (GRCm38)	I1646S	probably benign	Het
Wbp2nl	T	C	15: 82,314,282 (GRCm38)	F340S	possibly damaging	Het
Yeats2	T	C	16: 20,152,969 (GRCm38)	M1T	probably null	Het
Zfp236	T	A	18: 82,656,987 (GRCm38)	E460V	probably damaging	Het
Zfp277	G	A	12: 40,378,877 (GRCm38)		probably benign	Het
Zfp975	T	A	7: 42,662,492 (GRCm38)	K232N	probably benign	Het
Zxdc	T	C	6: 90,372,537 (GRCm38)		probably benign	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
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
R1919: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'- CGTGGGATTGGAGAACCTTATGCAG -3'
(R):5'- AAACTTGGCTCGGCAGCAACAG -3'

Sequencing Primer
(F):5'- ACCTTATGCAGTAGCAGGGC -3'
(R):5'- TGGGGTTTCTACCCAAGCAC -3'

Posted On

2013-07-24