Mutagenetix > Incidental Mutation

Incidental Mutation 'R9671:Spice1'

728066

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44167761-44208857 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44199671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 708 (R708C)

Ref Sequence

ENSEMBL: ENSMUSP00000058832 (fasta)

Gene Model

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

AlphaFold

Q8C804

Predicted Effect

probably benign
Transcript: ENSMUST00000050897
AA Change: R708C

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000058832
Gene: ENSMUSG00000043065
AA Change: R708C

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,055,948 (GRCm39)	L228*	probably null	Het
Acsf2	T	C	11: 94,460,802 (GRCm39)	D368G	probably benign	Het
Adat2	T	A	10: 13,438,452 (GRCm39)	N177K	probably damaging	Het
Adgrf5	G	T	17: 43,760,795 (GRCm39)	R830M	probably damaging	Het
Apoh	G	A	11: 108,286,792 (GRCm39)	W72*	probably null	Het
Bcl2l12	G	T	7: 44,642,301 (GRCm39)	P195Q	probably damaging	Het
Cacna1b	T	C	2: 24,596,282 (GRCm39)	M470V	probably benign	Het
Ccdc188	A	T	16: 18,036,268 (GRCm39)	R79*	probably null	Het
Cd34	T	A	1: 194,641,501 (GRCm39)	M309K	probably damaging	Het
Clec4a2	A	T	6: 123,101,942 (GRCm39)	K32N	possibly damaging	Het
Csmd3	G	T	15: 47,845,299 (GRCm39)	P88H		Het
Def6	A	G	17: 28,438,755 (GRCm39)	S154G	probably benign	Het
Dot1l	T	C	10: 80,620,613 (GRCm39)	L530P	probably damaging	Het
Fam13a	A	G	6: 58,951,014 (GRCm39)		probably null	Het
Fat3	G	A	9: 16,286,871 (GRCm39)	A884V	possibly damaging	Het
Frem3	C	A	8: 81,339,134 (GRCm39)	H476N	probably benign	Het
Gm3404	T	C	5: 146,463,031 (GRCm39)	V71A	probably benign	Het
Hnf4g	T	G	3: 3,703,273 (GRCm39)	S53R	probably benign	Het
Ighv13-2	T	C	12: 114,321,796 (GRCm39)	N15D	probably benign	Het
Jak1	T	C	4: 101,034,926 (GRCm39)	K339E	possibly damaging	Het
Klhl35	C	G	7: 99,117,702 (GRCm39)	P82R	probably benign	Het
Klhl40	T	A	9: 121,607,743 (GRCm39)	V301E	probably benign	Het
Knl1	A	T	2: 118,901,089 (GRCm39)	N930I	probably damaging	Het
Ltbp1	A	G	17: 75,603,217 (GRCm39)		probably null	Het
Mapk7	T	C	11: 61,382,498 (GRCm39)	D68G	probably damaging	Het
Myo3b	A	G	2: 70,086,908 (GRCm39)	H852R	probably damaging	Het
Or51a6	A	T	7: 102,604,633 (GRCm39)	H58Q	probably benign	Het
Pkd2	A	G	5: 104,637,256 (GRCm39)	D623G	probably damaging	Het
Pramel14	A	C	4: 143,719,687 (GRCm39)	I226S	probably benign	Het
Rfxank	T	C	8: 70,588,198 (GRCm39)	T118A	probably benign	Het
Rxrb	T	A	17: 34,252,020 (GRCm39)		probably null	Het
Sec14l3	G	A	11: 4,025,486 (GRCm39)	V337M	probably damaging	Het
Sema3e	A	G	5: 14,212,217 (GRCm39)	T98A	probably benign	Het
Ska1	A	T	18: 74,333,010 (GRCm39)	M136K	probably damaging	Het
Slc19a3	T	C	1: 83,000,297 (GRCm39)	D240G	probably benign	Het
Snph	T	C	2: 151,436,331 (GRCm39)	Y199C	probably damaging	Het
Sorl1	A	T	9: 41,943,077 (GRCm39)	I933N	possibly damaging	Het
Spag16	C	A	1: 69,883,495 (GRCm39)	H75N	probably benign	Het
Tet3	C	A	6: 83,381,136 (GRCm39)	S344I	possibly damaging	Het
Trav5-4	A	G	14: 53,941,816 (GRCm39)	E63G	possibly damaging	Het
Trp73	G	A	4: 154,148,403 (GRCm39)	P337L	probably benign	Het
Ttn	A	G	2: 76,778,359 (GRCm39)	F1343L	unknown	Het
Vipas39	T	C	12: 87,292,985 (GRCm39)	H320R	probably benign	Het
Vmn2r4	T	C	3: 64,317,271 (GRCm39)	I156V	probably benign	Het
Wdr81	T	C	11: 75,345,189 (GRCm39)	D26G	probably damaging	Het
Zscan4d	A	T	7: 10,898,945 (GRCm39)	F111I	probably 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
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

Predicted Primers

PCR Primer
(F):5'- GAAACCCCGTGTTGTCAGAG -3'
(R):5'- TTTGTCTAACCTAAGGGCCAG -3'

Sequencing Primer
(F):5'- TTGTCAGAGGAGCCCACTGTG -3'
(R):5'- CCTAAGGGCCAGAGCAATAGATTCTG -3'

Posted On

2022-10-06