Mutagenetix > Incidental Mutations

Incidental Mutation 'R0944:Spice1'

82030

Institutional Source

Beutler Lab

Gene Symbol

Spice1

Ensembl Gene

ENSMUSG00000043065

Gene Name

spindle and centriole associated protein 1

Synonyms

Ccdc52, D16Ertd480e

MMRRC Submission

039083-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0944 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44347121-44388497 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44384761 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 810 (N810S)

Ref Sequence

ENSEMBL: ENSMUSP00000058832 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000050897
AA Change: N810S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058832
Gene: ENSMUSG00000043065
AA Change: N810S

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

0.0898

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.3%
20x: 94.3%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110018I06Rik	G	A	12: 107,489,009	R118K	unknown	Het
Abcc6	T	A	7: 46,015,505	I301F	possibly damaging	Het
Akap9	C	A	5: 4,064,742		probably null	Het
Alg6	A	G	4: 99,762,060	I506V	probably benign	Het
B3gat1	C	T	9: 26,756,941	R276C	probably damaging	Het
Camk1	A	G	6: 113,338,391	Y105H	probably damaging	Het
Ccdc81	T	C	7: 89,866,569	N634S	probably damaging	Het
Clcn1	C	A	6: 42,313,141	Q837K	probably benign	Het
Clec16a	A	G	16: 10,688,646		probably benign	Het
Col22a1	T	C	15: 71,881,662	I130V	probably benign	Het
Coro2b	T	C	9: 62,427,981	S308G	probably benign	Het
Cpxm1	A	G	2: 130,397,503	W2R	probably damaging	Het
Csmd3	T	C	15: 47,611,831	N3364S	probably damaging	Het
Dgkq	A	G	5: 108,656,465	V131A	probably damaging	Het
Dnaic1	A	G	4: 41,629,997	S469G	probably benign	Het
Eml4	G	A	17: 83,478,060	E885K	probably benign	Het
Etfa	A	T	9: 55,488,838	I148N	probably damaging	Het
Gm11639	T	G	11: 104,710,730		probably null	Het
Gpbar1	A	G	1: 74,279,522	D308G	probably benign	Het
Gprin3	T	C	6: 59,353,915	E469G	possibly damaging	Het
Igkv1-115	T	C	6: 68,161,683	V90A	probably damaging	Het
Ints2	A	G	11: 86,244,463	V375A	possibly damaging	Het
Mindy3	T	C	2: 12,396,182	M242V	possibly damaging	Het
Olfr1094	A	C	2: 86,828,937	I62L	probably benign	Het
Olfr279	A	G	15: 98,497,684	I71V	probably benign	Het
Olfr353	T	C	2: 36,890,686	H54R	probably damaging	Het
P3h1	G	A	4: 119,238,759	E355K	probably benign	Het
Paxbp1	T	C	16: 91,023,427	T703A	probably benign	Het
Pcdh15	A	T	10: 74,210,470	Y193F	probably damaging	Het
Pdxdc1	A	G	16: 13,838,369	V613A	probably damaging	Het
Plekha5	T	C	6: 140,570,196		probably benign	Het
Pmel	A	T	10: 128,715,257	Q123L	possibly damaging	Het
Prl6a1	T	C	13: 27,318,166		probably benign	Het
Rcan1	T	C	16: 92,393,491	T187A	probably damaging	Het
Rp1l1	A	G	14: 64,032,232	S1756G	probably benign	Het
Runx2	A	T	17: 44,608,236	M405K	probably damaging	Het
Serinc5	T	C	13: 92,661,105	Y39H	probably damaging	Het
Sgsm1	G	A	5: 113,265,874	T676I	probably benign	Het
Slc6a15	G	C	10: 103,409,796	V547L	probably benign	Het
Slk	T	C	19: 47,608,993	I80T	probably damaging	Het
Spred2	A	G	11: 20,001,104		probably benign	Het
Tbc1d4	C	G	14: 101,479,220		probably benign	Het
Tdrd7	G	A	4: 46,029,762	V1032M	probably benign	Het
Tlr11	A	G	14: 50,362,336	N593S	probably benign	Het
Trpa1	T	C	1: 14,912,361		probably null	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Usp25	T	C	16: 77,081,447		probably benign	Het
Vmn2r97	T	A	17: 18,947,403	S640T	probably benign	Het
Zc3h6	A	G	2: 129,006,816	Y321C	probably damaging	Het
Zfp329	T	A	7: 12,811,468	N43I	probably benign	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
R1352:Spice1	UTSW	16	44386822	missense	probably damaging	1.00
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'- CTGTTCCCCAATGTATCGTAGGGC -3'
(R):5'- TGCAAGGATGAAAGTGCTACCAGTC -3'

Sequencing Primer
(F):5'- CTGGCATTCTGTAAACTGGC -3'
(R):5'- CAGTCAATGTATCTACCCTGGGAG -3'

Posted On

2013-11-08