Mutagenetix > Incidental Mutation

Incidental Mutation 'R3848:Spice1'

275785

Institutional Source

Beutler Lab

Gene Symbol

Spice1

Ensembl Gene

ENSMUSG00000043065

Gene Name

spindle and centriole associated protein 1

Synonyms

Ccdc52, D16Ertd480e

MMRRC Submission

040896-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3848 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44167761-44208857 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 44199254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 569 (R569*)

Ref Sequence

ENSEMBL: ENSMUSP00000058832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050897]

AlphaFold

Q8C804

Predicted Effect

probably null
Transcript: ENSMUST00000050897
AA Change: R569*

SMART Domains

Protein: ENSMUSP00000058832
Gene: ENSMUSG00000043065
AA Change: R569*

Domain	Start	End	E-Value	Type
Pfam:SPICE	33	436	1.4e-151	PFAM
low complexity region	627	642	N/A	INTRINSIC
coiled coil region	729	757	N/A	INTRINSIC
low complexity region	758	775	N/A	INTRINSIC
low complexity region	804	824	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133168

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,336,783 (GRCm39)	Q1564L	probably damaging	Het
Adgrv1	A	G	13: 81,588,191 (GRCm39)	V4465A	probably damaging	Het
Als2cl	A	G	9: 110,718,377 (GRCm39)		probably benign	Het
Anxa2	G	T	9: 69,374,624 (GRCm39)	D34Y	probably damaging	Het
Asic1	A	G	15: 99,570,814 (GRCm39)	N143S	probably benign	Het
Catsperb	A	C	12: 101,475,585 (GRCm39)	Q376H	probably damaging	Het
Cd72	T	C	4: 43,452,525 (GRCm39)	E132G	possibly damaging	Het
Cdh16	T	C	8: 105,344,473 (GRCm39)	D22G	possibly damaging	Het
Cep170	G	A	1: 176,583,409 (GRCm39)	A990V	probably benign	Het
Col15a1	T	C	4: 47,289,374 (GRCm39)	V48A	possibly damaging	Het
Col3a1	C	A	1: 45,361,150 (GRCm39)	P112T	unknown	Het
Cpeb2	T	G	5: 43,394,788 (GRCm39)	S64A	probably damaging	Het
Cplx3	G	A	9: 57,515,600 (GRCm39)	A425V	possibly damaging	Het
Ctsc	A	G	7: 87,958,818 (GRCm39)	H366R	probably benign	Het
Cul5	T	G	9: 53,529,286 (GRCm39)	M800L	probably benign	Het
Dst	C	T	1: 34,251,400 (GRCm39)	S4165F	probably damaging	Het
Efhb	A	T	17: 53,734,024 (GRCm39)		probably benign	Het
Fat4	T	A	3: 39,061,410 (GRCm39)	V4331D	probably benign	Het
Fbxl8	T	C	8: 105,993,781 (GRCm39)	S46P	probably benign	Het
Fbxo38	G	A	18: 62,648,144 (GRCm39)	S798F	possibly damaging	Het
Fggy	T	C	4: 95,489,361 (GRCm39)		probably benign	Het
Foxp4	A	G	17: 48,186,453 (GRCm39)	I442T	unknown	Het
Gm13941	T	C	2: 110,935,198 (GRCm39)	M11V	unknown	Het
Hoxd8	A	G	2: 74,535,929 (GRCm39)	Y13C	possibly damaging	Het
Hsf4	T	C	8: 105,997,469 (GRCm39)	F101L	probably damaging	Het
Jph2	G	A	2: 163,181,332 (GRCm39)	P611S	probably benign	Het
Kifbp	A	G	10: 62,405,249 (GRCm39)	Y64H	probably damaging	Het
Kndc1	T	C	7: 139,488,893 (GRCm39)	S183P	probably damaging	Het
L3mbtl1	A	G	2: 162,790,121 (GRCm39)	E132G	probably damaging	Het
Lmo7	A	G	14: 102,159,531 (GRCm39)		probably null	Het
Lrpprc	T	C	17: 85,078,355 (GRCm39)	I308V	probably benign	Het
Mei1	T	C	15: 81,997,218 (GRCm39)		probably benign	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Naip2	A	T	13: 100,315,940 (GRCm39)	L280Q	probably damaging	Het
Naip2	G	C	13: 100,315,941 (GRCm39)	L280V	probably damaging	Het
Nek1	T	A	8: 61,525,349 (GRCm39)	F596I	probably damaging	Het
Or51v8	A	G	7: 103,319,908 (GRCm39)	V110A	probably damaging	Het
Or52e8b	A	G	7: 104,673,539 (GRCm39)	V216A	probably damaging	Het
Or8u10	A	T	2: 85,915,751 (GRCm39)	Y123*	probably null	Het
Orc2	T	C	1: 58,520,151 (GRCm39)	T225A	probably benign	Het
P2ry1	G	A	3: 60,910,880 (GRCm39)	W6*	probably null	Het
Pam	T	A	1: 97,782,481 (GRCm39)		probably benign	Het
Pigt	G	A	2: 164,340,500 (GRCm39)		probably benign	Het
Pik3c2a	A	T	7: 115,963,785 (GRCm39)	C71*	probably null	Het
Plcxd2	T	C	16: 45,792,629 (GRCm39)	T237A	probably damaging	Het
Pnrc1	T	C	4: 33,246,252 (GRCm39)	K236E	probably damaging	Het
Ppargc1b	T	A	18: 61,444,113 (GRCm39)	D350V	probably damaging	Het
Rapgef6	T	C	11: 54,582,134 (GRCm39)	S1349P	probably damaging	Het
Rnf17	T	C	14: 56,749,753 (GRCm39)	V1433A	probably damaging	Het
Sell	A	T	1: 163,893,230 (GRCm39)	K149*	probably null	Het
Sidt1	A	G	16: 44,076,322 (GRCm39)		probably benign	Het
Slc6a5	C	G	7: 49,577,306 (GRCm39)		probably benign	Het
Slc7a14	A	T	3: 31,291,623 (GRCm39)	N218K	probably damaging	Het
Stk35	G	T	2: 129,642,656 (GRCm39)	A66S	probably benign	Het
Tmem245	A	G	4: 56,926,298 (GRCm39)		probably benign	Het
Tnxb	A	C	17: 34,909,369 (GRCm39)	R1632S	possibly damaging	Het
Ttc6	G	A	12: 57,723,932 (GRCm39)	R1020H	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,428,952 (GRCm39)	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,679,389 (GRCm39)	H612N	probably damaging	Het
Vmn2r15	A	T	5: 109,445,312 (GRCm39)	D37E	probably benign	Het
Zbtb41	T	A	1: 139,351,734 (GRCm39)	H282Q	probably benign	Het
Zfp687	T	C	3: 94,915,225 (GRCm39)	D1092G	probably damaging	Het

Other mutations in Spice1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01393:Spice1	APN	16	44,186,993 (GRCm39)	missense	probably benign	0.20
IGL01688:Spice1	APN	16	44,205,073 (GRCm39)	missense	probably benign	0.04
IGL03259:Spice1	APN	16	44,176,530 (GRCm39)	missense	probably damaging	1.00
IGL03367:Spice1	APN	16	44,176,541 (GRCm39)	missense	probably damaging	0.99
R0230:Spice1	UTSW	16	44,185,939 (GRCm39)	splice site	probably benign
R0944:Spice1	UTSW	16	44,205,124 (GRCm39)	missense	probably benign
R1352:Spice1	UTSW	16	44,207,185 (GRCm39)	missense	probably damaging	1.00
R1888:Spice1	UTSW	16	44,185,989 (GRCm39)	missense	probably damaging	1.00
R1888:Spice1	UTSW	16	44,185,989 (GRCm39)	missense	probably damaging	1.00
R1894:Spice1	UTSW	16	44,185,989 (GRCm39)	missense	probably damaging	1.00
R1907:Spice1	UTSW	16	44,178,193 (GRCm39)	nonsense	probably null
R2404:Spice1	UTSW	16	44,186,989 (GRCm39)	missense	probably benign	0.29
R2444:Spice1	UTSW	16	44,186,931 (GRCm39)	nonsense	probably null
R3551:Spice1	UTSW	16	44,178,232 (GRCm39)	missense	probably damaging	0.96
R3857:Spice1	UTSW	16	44,175,806 (GRCm39)	missense	probably damaging	1.00
R4490:Spice1	UTSW	16	44,202,476 (GRCm39)	missense	probably damaging	1.00
R5593:Spice1	UTSW	16	44,191,115 (GRCm39)	missense	possibly damaging	0.50
R5996:Spice1	UTSW	16	44,205,037 (GRCm39)	missense	probably benign	0.00
R6303:Spice1	UTSW	16	44,191,060 (GRCm39)	missense	probably benign	0.03
R6552:Spice1	UTSW	16	44,199,396 (GRCm39)	missense	possibly damaging	0.75
R7042:Spice1	UTSW	16	44,206,043 (GRCm39)	missense	probably benign	0.04
R7062:Spice1	UTSW	16	44,178,259 (GRCm39)	missense	probably damaging	1.00
R7065:Spice1	UTSW	16	44,175,898 (GRCm39)	missense	probably damaging	1.00
R7115:Spice1	UTSW	16	44,199,638 (GRCm39)	missense	probably benign	0.00
R7762:Spice1	UTSW	16	44,190,864 (GRCm39)	splice site	probably null
R8408:Spice1	UTSW	16	44,205,060 (GRCm39)	missense	probably damaging	0.99
R9182:Spice1	UTSW	16	44,206,065 (GRCm39)	missense	possibly damaging	0.76
R9477:Spice1	UTSW	16	44,197,183 (GRCm39)	missense	possibly damaging	0.88
R9671:Spice1	UTSW	16	44,199,671 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- GAGACTACTTTAGGCACTCGG -3'
(R):5'- AACACGGGGTTTCTTGGCTG -3'

Sequencing Primer
(F):5'- GGAGGCTAAACCCTTCTATTGC -3'
(R):5'- CTGTGACAGGCTAACAAATGCTG -3'

Posted On

2015-04-06