Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01393:Spice1'

79302

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spice1

Ensembl Gene

ENSMUSG00000043065

Gene Name

spindle and centriole associated protein 1

Synonyms

Ccdc52, D16Ertd480e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01393

Quality Score

Status

Chromosome

Chromosomal Location

44167761-44208857 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44186993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 163 (I163M)

Ref Sequence

ENSEMBL: ENSMUSP00000058832 (fasta)

Gene Model

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

AlphaFold

Q8C804

Predicted Effect

probably benign
Transcript: ENSMUST00000050897
AA Change: I163M

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000058832
Gene: ENSMUSG00000043065
AA Change: I163M

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: ENSMUST00000133168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155661

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	A	14: 35,818,379 (GRCm39)	V126I	possibly damaging	Het
A630073D07Rik	G	T	6: 132,603,577 (GRCm39)	Q60K	unknown	Het
Alpk2	A	G	18: 65,440,779 (GRCm39)	S205P	possibly damaging	Het
Ang4	T	A	14: 52,001,670 (GRCm39)	I93L	probably benign	Het
Arpin	A	G	7: 79,581,588 (GRCm39)	V44A	possibly damaging	Het
Atxn3	A	T	12: 101,899,306 (GRCm39)	C263*	probably null	Het
Cd209f	T	C	8: 4,153,154 (GRCm39)	N260S	probably damaging	Het
Cdh20	A	G	1: 104,861,969 (GRCm39)	R50G	probably benign	Het
Cracd	T	C	5: 77,006,818 (GRCm39)	S1060P	unknown	Het
Csmd3	C	T	15: 48,320,995 (GRCm39)	V272I	possibly damaging	Het
Dst	A	T	1: 34,206,706 (GRCm39)	Y1136F	possibly damaging	Het
Fam20c	A	G	5: 138,793,026 (GRCm39)	Y420C	probably damaging	Het
Fancd2	T	A	6: 113,554,321 (GRCm39)		probably benign	Het
Fat2	T	C	11: 55,160,135 (GRCm39)	D3326G	probably benign	Het
Filip1l	A	G	16: 57,392,586 (GRCm39)	N820S	probably damaging	Het
Gm26566	G	A	4: 88,640,581 (GRCm39)		probably benign	Het
Gm4792	A	G	10: 94,134,304 (GRCm39)	L22P	unknown	Het
Gpat2	A	G	2: 127,274,571 (GRCm39)	E386G	probably damaging	Het
Grm3	T	C	5: 9,639,856 (GRCm39)	D63G	probably benign	Het
Hdc	A	G	2: 126,436,581 (GRCm39)	V430A	probably benign	Het
Hnf4a	T	C	2: 163,393,492 (GRCm39)		probably benign	Het
Il2ra	A	G	2: 11,687,865 (GRCm39)	D215G	probably damaging	Het
Kctd3	T	C	1: 188,732,487 (GRCm39)	I74V	probably benign	Het
Kctd5	A	T	17: 24,278,292 (GRCm39)		probably null	Het
Lrsam1	A	T	2: 32,845,185 (GRCm39)		probably benign	Het
Mblac1	A	G	5: 138,193,036 (GRCm39)	N126S	possibly damaging	Het
Mmrn1	T	A	6: 60,937,692 (GRCm39)		probably benign	Het
Mpp3	A	T	11: 101,916,304 (GRCm39)	L16Q	probably damaging	Het
Mrgprb1	C	A	7: 48,097,754 (GRCm39)	A53S	possibly damaging	Het
Nbea	C	A	3: 55,912,729 (GRCm39)	M1019I	probably benign	Het
Nlrp5	A	G	7: 23,103,599 (GRCm39)	K22R	probably null	Het
Or1j4	G	A	2: 36,740,553 (GRCm39)	R165Q	probably benign	Het
Or2ag18	C	T	7: 106,405,642 (GRCm39)	G9E	probably benign	Het
Or4k48	A	G	2: 111,475,601 (GRCm39)	V247A	probably damaging	Het
Pard6b	T	A	2: 167,929,298 (GRCm39)	S35T	probably benign	Het
Peli1	T	C	11: 21,097,400 (GRCm39)	V215A	probably benign	Het
Pkp4	A	T	2: 59,178,269 (GRCm39)	D1003V	probably damaging	Het
Pot1a	G	A	6: 25,744,630 (GRCm39)	R625*	probably null	Het
Ppp1r16a	T	C	15: 76,578,744 (GRCm39)	S483P	probably benign	Het
Prpf8	C	A	11: 75,385,121 (GRCm39)	A794D	possibly damaging	Het
Prrg3	T	C	X: 71,011,123 (GRCm39)	V210A	probably benign	Het
Rev1	A	G	1: 38,131,144 (GRCm39)	V168A	probably damaging	Het
Sez6l	G	T	5: 112,586,261 (GRCm39)		probably benign	Het
Spag17	A	G	3: 99,934,926 (GRCm39)	T711A	possibly damaging	Het
Tex13c1	C	T	X: 42,680,233 (GRCm39)	A66V	probably damaging	Het
Tmem132d	A	T	5: 127,861,702 (GRCm39)	S806R	probably benign	Het
Tnc	A	G	4: 63,932,291 (GRCm39)		probably benign	Het
Tpbg	T	A	9: 85,726,145 (GRCm39)	V38E	unknown	Het
Unc13c	T	A	9: 73,447,552 (GRCm39)	I1883F	probably benign	Het
Vmn2r61	A	C	7: 41,916,258 (GRCm39)	Q290H	probably benign	Het
Vps39	A	G	2: 120,180,719 (GRCm39)		probably benign	Het
Zfp369	T	C	13: 65,442,288 (GRCm39)	V294A	possibly damaging	Het
Zfp821	T	A	8: 110,436,110 (GRCm39)		probably benign	Het
Zfp941	C	T	7: 140,391,841 (GRCm39)	G506E	probably damaging	Het

Other mutations in Spice1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9671:Spice1	UTSW	16	44,199,671 (GRCm39)	missense	probably benign	0.08

Posted On

2013-11-05