Mutagenetix > Incidental Mutations

Incidental Mutation 'R7115:Spice1'

551743

Institutional Source

Beutler Lab

Gene Symbol

Spice1

Ensembl Gene

ENSMUSG00000043065

Gene Name

spindle and centriole associated protein 1

Synonyms

Ccdc52, D16Ertd480e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7115 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44347121-44388497 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44379275 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 697 (G697R)

Ref Sequence

ENSEMBL: ENSMUSP00000058832 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000050897
AA Change: G697R

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

SMART Domains

Protein: ENSMUSP00000058832
Gene: ENSMUSG00000043065
AA Change: G697R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,437,725	I636N	probably benign	Het
Adam5	A	G	8: 24,781,696	I565T	possibly damaging	Het
Amd2	C	A	10: 35,711,637		probably benign	Het
Ap5m1	T	A	14: 49,086,270	Y472*	probably null	Het
Apcdd1	T	C	18: 62,936,953	F97S	probably damaging	Het
Axdnd1	T	C	1: 156,380,876	K267R		Het
BC067074	T	G	13: 113,320,776	S1119A		Het
Carf	G	T	1: 60,148,150	L637F	probably damaging	Het
Ccdc103	A	T	11: 102,883,810	S95C	possibly damaging	Het
Cfap20	T	C	8: 95,421,246	I156V	probably benign	Het
Csn1s2a	T	C	5: 87,781,805	C96R	probably benign	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,471,803		probably benign	Het
Dennd2a	G	A	6: 39,506,711	T405M	probably damaging	Het
Dennd5a	A	G	7: 109,894,754	Y1248H	probably damaging	Het
Dnah14	A	T	1: 181,720,145	K2504N	probably damaging	Het
Dnajb2	G	A	1: 75,243,662	G275D		Het
Elf3	T	G	1: 135,257,118	D110A	probably damaging	Het
Eomes	A	G	9: 118,484,489	N534S	probably benign	Het
Fry	A	T	5: 150,386,067	R659W	probably damaging	Het
Gm10428	G	A	11: 62,753,380	C94Y	unknown	Het
Gm2696	T	A	10: 77,836,299	C111S	unknown	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
Lrp1b	T	A	2: 40,998,235	N2338Y		Het
Map2k1	A	G	9: 64,212,606	I139T	probably damaging	Het
Olfr44	T	C	9: 39,484,648	I202V	probably benign	Het
Olfr964-ps1	T	C	9: 39,686,707	Y79C	probably benign	Het
Pxylp1	G	A	9: 96,825,010	T373I	probably benign	Het
Ranbp9	T	C	13: 43,406,671	N484S	probably benign	Het
Rassf5	A	G	1: 131,181,249	V293A	probably benign	Het
Ring1	A	G	17: 34,023,446	I29T	probably damaging	Het
Scn1a	G	A	2: 66,324,618	Q666*	probably null	Het
Tas2r131	A	G	6: 132,957,604	F81L	probably benign	Het
Tenm2	G	A	11: 36,163,817	S572L	probably damaging	Het
Tfr2	A	G	5: 137,571,715	T128A	probably benign	Het
Trim56	T	A	5: 137,113,660	Q334L	probably damaging	Het
Vmn2r44	T	A	7: 8,367,528	R840*	probably null	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
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
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'- AGCCAAGAAACCCCGTGTTG -3'
(R):5'- TTTGTCTAACCTAAGGGCCAG -3'

Sequencing Primer
(F):5'- AAACCCCGTGTTGTCAGAG -3'
(R):5'- TTCTGACACAGGGAGTCTGAAACC -3'

Posted On

2019-05-15