Mutagenetix > Incidental Mutation

Incidental Mutation 'R3551:Spice1'

268364

Institutional Source

Beutler Lab

Gene Symbol

Spice1

Ensembl Gene

ENSMUSG00000043065

Gene Name

spindle and centriole associated protein 1

Synonyms

Ccdc52, D16Ertd480e

MMRRC Submission

040668-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3551 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44167761-44208857 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44178232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 85 (S85I)

Ref Sequence

ENSEMBL: ENSMUSP00000058832 (fasta)

Gene Model

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

AlphaFold

Q8C804

Predicted Effect

probably damaging
Transcript: ENSMUST00000050897
AA Change: S85I

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058832
Gene: ENSMUSG00000043065
AA Change: S85I

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: ENSMUST00000132663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155661

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,152,450 (GRCm39)	Y866N	probably damaging	Het
Adam24	G	C	8: 41,132,632 (GRCm39)	W33C	probably benign	Het
Adgrl2	A	T	3: 148,564,599 (GRCm39)	V327E	probably damaging	Het
Aqp7	T	A	4: 41,045,329 (GRCm39)	N17I	probably benign	Het
Bicra	T	A	7: 15,713,658 (GRCm39)	Q848L	probably benign	Het
C4b	T	C	17: 34,960,846 (GRCm39)	E240G	possibly damaging	Het
Ccni	T	C	5: 93,335,620 (GRCm39)	S173G	probably benign	Het
Clca3a2	T	A	3: 144,508,842 (GRCm39)	N50I	probably damaging	Het
Dcaf7	A	G	11: 105,945,622 (GRCm39)	T324A	probably benign	Het
Dnah12	G	A	14: 26,492,929 (GRCm39)	R1230H	probably benign	Het
Dsg4	G	A	18: 20,584,813 (GRCm39)	V176M	probably damaging	Het
Ect2l	A	G	10: 18,039,141 (GRCm39)	I339T	probably damaging	Het
Edc4	A	T	8: 106,612,126 (GRCm39)	I138F	probably damaging	Het
Ercc6l2	T	A	13: 63,992,409 (GRCm39)	V401E	probably damaging	Het
Gm3269	T	A	14: 16,033,003 (GRCm39)	V260D	possibly damaging	Het
Gm4076	C	T	13: 85,275,269 (GRCm39)		noncoding transcript	Het
Gm4922	A	T	10: 18,660,244 (GRCm39)	N159K	probably benign	Het
Gm5134	G	T	10: 75,836,281 (GRCm39)	A421S	probably benign	Het
Hrc	G	C	7: 44,985,757 (GRCm39)	E303Q	possibly damaging	Het
Ipo4	A	G	14: 55,870,560 (GRCm39)	V288A	probably benign	Het
Kng2	A	G	16: 22,830,745 (GRCm39)		probably null	Het
Lrfn1	T	C	7: 28,159,479 (GRCm39)	L466P	possibly damaging	Het
Magi1	T	A	6: 93,676,610 (GRCm39)	K916N	probably damaging	Het
Mms19	T	C	19: 41,938,237 (GRCm39)	T720A	probably benign	Het
Muc5b	A	G	7: 141,415,072 (GRCm39)	T2673A	possibly damaging	Het
Myo15a	C	T	11: 60,400,489 (GRCm39)	A1767V	possibly damaging	Het
Npas2	A	T	1: 39,326,643 (GRCm39)	M43L	probably benign	Het
Nup43	A	G	10: 7,550,778 (GRCm39)	D216G	possibly damaging	Het
Or1e19	T	C	11: 73,316,678 (GRCm39)	I44V	probably benign	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pcdhga6	G	T	18: 37,841,270 (GRCm39)	R330L	probably benign	Het
Pear1	A	G	3: 87,665,439 (GRCm39)	F145L	probably benign	Het
Pgap1	A	G	1: 54,569,302 (GRCm39)	S355P	possibly damaging	Het
Prr14l	A	T	5: 32,985,963 (GRCm39)		probably null	Het
Ptpn12	T	C	5: 21,194,047 (GRCm39)	K742E	possibly damaging	Het
Ryr1	T	A	7: 28,756,422 (GRCm39)	Q3464L	probably damaging	Het
Sema4c	G	C	1: 36,592,804 (GRCm39)	T138S	probably benign	Het
Slc4a2	C	T	5: 24,635,099 (GRCm39)	T168M	probably benign	Het
Slco1a7	T	C	6: 141,654,322 (GRCm39)	K647E	probably benign	Het
Thrb	T	A	14: 17,963,214 (GRCm38)	I59N	probably damaging	Het
Trav7-1	A	G	14: 52,892,756 (GRCm39)	D103G	probably damaging	Het
Ubap2l	G	T	3: 89,922,758 (GRCm39)	T766N	unknown	Het
Zfp692	C	T	11: 58,200,254 (GRCm39)	T170I	possibly damaging	Het
Zfp704	A	G	3: 9,539,585 (GRCm39)	V255A	probably damaging	Het
Zfp759	T	C	13: 67,287,031 (GRCm39)	V194A	probably benign	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
R3848:Spice1	UTSW	16	44,199,254 (GRCm39)	nonsense	probably null
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'- TGGTCTTGCATAGCAGCAGG -3'
(R):5'- AAGCCTACAGAGTTGATGAGTTGTG -3'

Sequencing Primer
(F):5'- CAGCAGGCAATGTCTTTGTTAC -3'
(R):5'- GTTGTGGAAAGTACATTTAAAGCAGC -3'

Posted On

2015-02-19