Mutagenetix > Incidental Mutations

Incidental Mutation 'R1352:Spice1'

156719

Institutional Source

Beutler Lab

Gene Symbol

Spice1

Ensembl Gene

ENSMUSG00000043065

Gene Name

spindle and centriole associated protein 1

Synonyms

Ccdc52, D16Ertd480e

MMRRC Submission

039417-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1352 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

44347121-44388497 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44386822 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 856 (S856P)

Ref Sequence

ENSEMBL: ENSMUSP00000058832 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000050897
AA Change: S856P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058832
Gene: ENSMUSG00000043065
AA Change: S856P

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: ENSMUST00000126228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133168

Meta Mutation Damage Score

0.1560

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.5%

Validation Efficiency

95% (42/44)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 46,135,468		probably benign	Het
Acbd3	T	A	1: 180,738,530	Y263N	probably damaging	Het
Aldh4a1	T	C	4: 139,635,519	V142A	probably benign	Het
Car9	G	T	4: 43,512,439		probably null	Het
Cass4	T	C	2: 172,416,495	S138P	probably damaging	Het
Cbln4	T	C	2: 172,037,456	K171E	possibly damaging	Het
Cd226	A	G	18: 89,247,174	Y79C	probably damaging	Het
Dclre1a	T	C	19: 56,545,163	D333G	probably damaging	Het
Dst	T	A	1: 34,229,248		probably null	Het
Eml5	A	G	12: 98,831,003		probably benign	Het
Evx1	T	C	6: 52,317,010	S388P	probably damaging	Het
Gins1	T	A	2: 150,930,848	L177*	probably null	Het
Gm5422	A	C	10: 31,250,735		noncoding transcript	Het
Gmppa	T	A	1: 75,440,534	D204E	probably benign	Het
Ifna7	A	C	4: 88,816,660	T145P	possibly damaging	Het
Inhbb	T	C	1: 119,420,695	D131G	probably benign	Het
Itpr2	T	C	6: 146,111,742	K2679E	probably damaging	Het
Kif20b	C	A	19: 34,924,635	H4N	probably benign	Het
Kng1	G	T	16: 23,067,694		probably null	Het
Lrrfip1	C	T	1: 91,115,367	A498V	probably benign	Het
Myo3a	T	A	2: 22,323,675		probably null	Het
Nkapl	T	C	13: 21,468,060	R128G	unknown	Het
Olfr1350	A	T	7: 6,570,783	Y264F	probably benign	Het
Olfr624	T	C	7: 103,670,311	H240R	probably damaging	Het
Prlr	T	C	15: 10,328,786	V449A	probably benign	Het
Rbm44	C	A	1: 91,153,042	D317E	probably damaging	Het
Sirt5	T	C	13: 43,394,807	S310P	probably damaging	Het
Sptan1	T	A	2: 30,021,187		probably benign	Het
St6gal1	A	G	16: 23,321,651	K191E	probably damaging	Het
Stat6	A	T	10: 127,650,811	Q152L	probably benign	Het
Stk3	T	C	15: 35,008,225	D253G	probably damaging	Het
Tas2r139	C	T	6: 42,140,940	A2V	probably benign	Het
Tfpi2	A	G	6: 3,968,281	L15P	probably damaging	Het
Topbp1	T	A	9: 103,347,008	C1445S	probably benign	Het
Trappc11	A	T	8: 47,525,046	H195Q	possibly damaging	Het
Ttc21a	A	T	9: 119,954,652	E600V	possibly damaging	Het
Ttn	T	C	2: 76,846,697		probably benign	Het
Vmn2r88	T	C	14: 51,418,550	S740P	probably damaging	Het
Wrn	A	C	8: 33,294,916	V476G	probably benign	Het
Zdbf2	C	A	1: 63,303,053	A197E	probably damaging	Het

Other mutations in Spice1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01393:Spice1	APN	16	44366630	missense	probably benign	0.20
IGL01688:Spice1	APN	16	44384710	missense	probably benign	0.04
IGL03259:Spice1	APN	16	44356167	missense	probably damaging	1.00
IGL03367:Spice1	APN	16	44356178	missense	probably damaging	0.99
R0230:Spice1	UTSW	16	44365576	splice site	probably benign
R0944:Spice1	UTSW	16	44384761	missense	probably benign
R1888:Spice1	UTSW	16	44365626	missense	probably damaging	1.00
R1888:Spice1	UTSW	16	44365626	missense	probably damaging	1.00
R1894:Spice1	UTSW	16	44365626	missense	probably damaging	1.00
R1907:Spice1	UTSW	16	44357830	nonsense	probably null
R2404:Spice1	UTSW	16	44366626	missense	probably benign	0.29
R2444:Spice1	UTSW	16	44366568	nonsense	probably null
R3551:Spice1	UTSW	16	44357869	missense	probably damaging	0.96
R3848:Spice1	UTSW	16	44378891	nonsense	probably null
R3857:Spice1	UTSW	16	44355443	missense	probably damaging	1.00
R4490:Spice1	UTSW	16	44382113	missense	probably damaging	1.00
R5593:Spice1	UTSW	16	44370752	missense	possibly damaging	0.50
R5996:Spice1	UTSW	16	44384674	missense	probably benign	0.00
R6303:Spice1	UTSW	16	44370697	missense	probably benign	0.03
R6552:Spice1	UTSW	16	44379033	missense	possibly damaging	0.75
R7042:Spice1	UTSW	16	44385680	missense	probably benign	0.04
R7062:Spice1	UTSW	16	44357896	missense	probably damaging	1.00
R7065:Spice1	UTSW	16	44355535	missense	probably damaging	1.00
R7115:Spice1	UTSW	16	44379275	missense	probably benign	0.00
R7762:Spice1	UTSW	16	44370501	splice site	probably null
R8408:Spice1	UTSW	16	44384697	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAGGACACCTGCTGAACAGGCAAC -3'
(R):5'- GCTTTACTCACAGGGAATTAGAGGTGC -3'

Sequencing Primer
(F):5'- GTCTTCGTGGGCAGGAGC -3'
(R):5'- GGTGCTTTGTTGAAAAAACATTTG -3'

Posted On

2014-02-11