Mutagenetix > Incidental Mutation

Incidental Mutation 'R6552:Spice1'

521742

Institutional Source

Beutler Lab

Gene Symbol

Spice1

Ensembl Gene

ENSMUSG00000043065

Gene Name

spindle and centriole associated protein 1

Synonyms

Ccdc52, D16Ertd480e

MMRRC Submission

044677-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6552 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44167761-44208857 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44199396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 616 (D616G)

Ref Sequence

ENSEMBL: ENSMUSP00000058832 (fasta)

Gene Model

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

AlphaFold

Q8C804

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050897
AA Change: D616G

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000058832
Gene: ENSMUSG00000043065
AA Change: D616G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang5	A	T	14: 44,200,254 (GRCm39)	H106L	probably benign	Het
Arsk	A	G	13: 76,220,315 (GRCm39)	Y260H	probably damaging	Het
Atxn2l	C	T	7: 126,092,993 (GRCm39)	V833M	possibly damaging	Het
Bpifa6	G	A	2: 153,829,078 (GRCm39)	D202N	probably damaging	Het
Ccdc103	A	G	11: 102,774,970 (GRCm39)	S190G	probably benign	Het
Col6a6	C	T	9: 105,576,112 (GRCm39)	V2083I	probably damaging	Het
Creb5	A	G	6: 53,662,369 (GRCm39)	D222G	probably damaging	Het
Cyp7a1	C	T	4: 6,272,361 (GRCm39)	W284*	probably null	Het
Dnmt3a	T	C	12: 3,957,623 (GRCm39)	V868A	probably damaging	Het
Efr3a	A	G	15: 65,729,339 (GRCm39)	D680G	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epb41l4a	A	G	18: 34,012,032 (GRCm39)	Y163H	probably damaging	Het
Gabra1	A	T	11: 42,037,926 (GRCm39)	S231T	probably damaging	Het
Golga4	T	A	9: 118,343,299 (GRCm39)	F42I	probably damaging	Het
Greb1l	G	A	18: 10,541,814 (GRCm39)	S1187N	probably benign	Het
Haspin	A	G	11: 73,028,390 (GRCm39)	V233A	probably benign	Het
Il34	T	A	8: 111,469,059 (GRCm39)	K187I	probably benign	Het
Kcnn2	A	G	18: 45,693,165 (GRCm39)	H247R	probably benign	Het
Klf5	T	C	14: 99,539,078 (GRCm39)	S84P	probably benign	Het
Lama5	G	T	2: 179,822,947 (GRCm39)	P2773Q	probably damaging	Het
Lcat	T	C	8: 106,666,311 (GRCm39)	M404V	possibly damaging	Het
Lrp6	A	T	6: 134,431,692 (GRCm39)	S1473T	probably benign	Het
Lsm3	GATATATA	GATATATATA	6: 91,496,617 (GRCm39)		probably null	Het
Mn1	T	C	5: 111,568,753 (GRCm39)	S908P	possibly damaging	Het
Or1o1	G	A	17: 37,716,796 (GRCm39)	R119H	probably benign	Het
Or2ag13	TGAAGCC	T	7: 106,313,850 (GRCm39)		probably benign	Het
Pcdhb2	A	T	18: 37,429,046 (GRCm39)	M340L	probably benign	Het
Pex1	G	A	5: 3,673,953 (GRCm39)	E748K	probably damaging	Het
Qrich1	T	C	9: 108,411,504 (GRCm39)	V343A	possibly damaging	Het
Rho	A	G	6: 115,908,709 (GRCm39)		probably null	Het
Sdhaf4	C	A	1: 24,044,687 (GRCm39)		probably benign	Het
Sec24d	A	G	3: 123,084,201 (GRCm39)	I127V	probably benign	Het
Siae	T	C	9: 37,557,696 (GRCm39)	V501A	possibly damaging	Het
Skint3	T	C	4: 112,147,482 (GRCm39)	Y402H	possibly damaging	Het
Skint6	A	C	4: 112,924,687 (GRCm39)	V515G	possibly damaging	Het
Slc23a1	C	A	18: 35,755,391 (GRCm39)	G475C	probably damaging	Het
Smad9	A	G	3: 54,690,167 (GRCm39)	Y129C	probably damaging	Het
Snw1	A	G	12: 87,506,189 (GRCm39)		probably null	Het
Stam2	T	C	2: 52,598,239 (GRCm39)		probably null	Het
Sumo3	G	T	10: 77,442,091 (GRCm39)		probably benign	Het
Syne2	T	G	12: 75,937,015 (GRCm39)	N204K	possibly damaging	Het
Tmem200a	T	C	10: 25,869,381 (GRCm39)	N296S	probably damaging	Het
Ttbk1	G	T	17: 46,789,888 (GRCm39)	T125N	probably benign	Het
Ubr2	G	T	17: 47,277,194 (GRCm39)		probably null	Het
Vmn1r80	C	T	7: 11,927,684 (GRCm39)	L265F	probably damaging	Het
Vwa8	A	T	14: 79,435,662 (GRCm39)	T1791S	possibly 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
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
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'- AATTGGTACTCACAGTTCTGAGGAG -3'
(R):5'- GCTGAATTCTGCAGTGTGAGC -3'

Sequencing Primer
(F):5'- CTGAGGAGGACTGTTCAGACTC -3'
(R):5'- CGATCCGGGCCATAATGTC -3'

Posted On

2018-06-06