Mutagenetix > Incidental Mutations

Incidental Mutation 'R8515:Spdl1'

656093

Institutional Source

Beutler Lab

Gene Symbol

Spdl1

Ensembl Gene

ENSMUSG00000069910

Gene Name

spindle apparatus coiled-coil protein 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.901) question?

Stock #

R8515 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34809190-34833641 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34813425 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 527 (T527I)

Ref Sequence

ENSEMBL: ENSMUSP00000090882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093191]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093191
AA Change: T527I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090882
Gene: ENSMUSG00000069910
AA Change: T527I

Domain	Start	End	E-Value	Type
coiled coil region	35	342	N/A	INTRINSIC
coiled coil region	370	441	N/A	INTRINSIC
low complexity region	463	478	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain-containing protein that functions in mitotic spindle formation and chromosome segregation. The encoded protein plays a role in coordinating microtubule attachment by promoting recruitment of dynein proteins, and in mitotic checkpoint signaling. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	A	10: 82,288,602	D2858V	probably benign	Het
Aak1	A	G	6: 86,925,130	M94V	possibly damaging	Het
Acss3	A	G	10: 106,948,663	I566T	possibly damaging	Het
Adcy3	T	C	12: 4,212,187	V1080A	probably damaging	Het
Aldh1b1	C	T	4: 45,803,818	T452I	probably damaging	Het
Bptf	A	T	11: 107,055,238	S2392T	possibly damaging	Het
Ccnb2	A	G	9: 70,413,100		probably null	Het
Clec4a4	T	A	6: 123,004,023	Y72N	probably benign	Het
Clk4	G	A	11: 51,275,261	R198Q	probably damaging	Het
Coro2a	ACCAGAAGAGCCATCCAG	ACCAG	4: 46,544,117		probably null	Het
Ctbs	T	A	3: 146,458,813	Y240*	probably null	Het
Cyp2d22	T	C	15: 82,373,912	D169G	probably benign	Het
Dnah11	C	T	12: 117,975,798	V3196I	probably damaging	Het
Fam110b	T	C	4: 5,799,380	V266A	probably benign	Het
Fbxo40	A	G	16: 36,970,653	S32P	probably damaging	Het
Gm4787	T	A	12: 81,377,269	H705L	probably benign	Het
Grik1	A	T	16: 87,923,282	Y702*	probably null	Het
Hao2	A	T	3: 98,883,647	N70K	probably benign	Het
Heatr4	A	G	12: 83,954,704	I888T	probably damaging	Het
Herc4	T	A	10: 63,315,786	N935K	probably benign	Het
Kdm3b	G	T	18: 34,793,076	A90S	probably benign	Het
Kif3b	C	T	2: 153,316,507	T76M	probably damaging	Het
Kmo	A	T	1: 175,647,152	H134L	probably damaging	Het
Lama3	C	A	18: 12,411,631	Q344K	probably null	Het
Man2a2	A	T	7: 80,368,290	F211I	possibly damaging	Het
Mmp19	T	C	10: 128,795,602	I189T	probably benign	Het
Muc4	G	A	16: 32,755,255	G1710S	unknown	Het
Myo15b	G	A	11: 115,858,784	G127S		Het
Naca	T	C	10: 128,044,243	S1715P	possibly damaging	Het
Ndufs4	T	C	13: 114,288,803	N163S	probably damaging	Het
Nim1k	G	A	13: 119,712,450	R303*	probably null	Het
Nkx6-3	A	T	8: 23,153,691	Y36F	possibly damaging	Het
Osbpl10	C	A	9: 115,176,068	Q188K	probably benign	Het
Pak6	G	T	2: 118,689,997	R156S	probably benign	Het
Pcf11	T	A	7: 92,658,790	K723N	possibly damaging	Het
Pcnx	A	G	12: 81,962,716	Y546C	possibly damaging	Het
Pik3r6	A	G	11: 68,539,957	Y528C	probably damaging	Het
Ppp3cb	T	A	14: 20,531,776	N57I	probably benign	Het
Preb	A	G	5: 30,959,378	L57P	probably damaging	Het
Prkdc	A	G	16: 15,664,368	D425G	probably damaging	Het
Rab35	G	A	5: 115,643,408	V90I	probably damaging	Het
Rab3gap2	G	C	1: 185,262,820	S852T	probably benign	Het
Rcn1	C	T	2: 105,389,119	R243Q	probably null	Het
Rom1	A	G	19: 8,929,101	S25P	probably damaging	Het
Shank3	C	A	15: 89,503,572	Y286*	probably null	Het
Sis	T	A	3: 72,929,409	I837L	probably benign	Het
Ski	T	C	4: 155,160,626	S388G	possibly damaging	Het
Skint1	T	C	4: 112,010,724	F16S	probably benign	Het
Slc22a21	T	G	11: 53,956,078	D323A	possibly damaging	Het
Slc40a1	G	A	1: 45,912,307	T230I	probably damaging	Het
Snrpa1	G	A	7: 66,070,633	G195R	probably benign	Het
Spata31d1c	G	T	13: 65,033,177	S30I	probably damaging	Het
Sptb	A	T	12: 76,612,041	L1240Q	probably benign	Het
Tef	T	A	15: 81,802,836	V18D	possibly damaging	Het
Uckl1	T	C	2: 181,574,487	D155G	probably damaging	Het
Vmn1r215	A	G	13: 23,075,867	I26V	probably benign	Het
Wac	A	G	18: 7,871,606	M46V	probably benign	Het
Wbp1	C	T	6: 83,119,885	G146D	probably damaging	Het
Zfand2a	A	C	5: 139,473,791	S147A	probably benign	Het
Zfhx4	A	T	3: 5,399,474	Y1589F	probably benign	Het
Zfp345	G	C	2: 150,472,428	D396E	probably benign	Het

Other mutations in Spdl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02417:Spdl1	APN	11	34813354	missense	probably benign	0.27
IGL02694:Spdl1	APN	11	34813621	missense	probably benign	0.05
IGL03131:Spdl1	APN	11	34830765	missense	possibly damaging	0.46
R0295:Spdl1	UTSW	11	34813343	missense	possibly damaging	0.82
R0319:Spdl1	UTSW	11	34823520	missense	possibly damaging	0.66
R1017:Spdl1	UTSW	11	34819290	missense	possibly damaging	0.66
R1195:Spdl1	UTSW	11	34819817	missense	probably damaging	0.97
R1195:Spdl1	UTSW	11	34819817	missense	probably damaging	0.97
R1195:Spdl1	UTSW	11	34819817	missense	probably damaging	0.97
R1296:Spdl1	UTSW	11	34813607	missense	unknown
R1315:Spdl1	UTSW	11	34813407	missense	unknown
R1799:Spdl1	UTSW	11	34821029	nonsense	probably null
R2002:Spdl1	UTSW	11	34822646	missense	probably benign
R2291:Spdl1	UTSW	11	34819309	nonsense	probably null
R4771:Spdl1	UTSW	11	34813327	missense	probably damaging	0.98
R5030:Spdl1	UTSW	11	34823440	missense	probably benign	0.00
R5167:Spdl1	UTSW	11	34813360	missense	possibly damaging	0.79
R5477:Spdl1	UTSW	11	34822210	missense	possibly damaging	0.66
R6258:Spdl1	UTSW	11	34819886	missense	probably damaging	0.97
R6260:Spdl1	UTSW	11	34819886	missense	probably damaging	0.97
R6554:Spdl1	UTSW	11	34822570	missense	possibly damaging	0.82
R6695:Spdl1	UTSW	11	34823003	splice site	probably null
R6714:Spdl1	UTSW	11	34823003	splice site	probably null
R6980:Spdl1	UTSW	11	34830879	start codon destroyed	probably null	0.04
R7355:Spdl1	UTSW	11	34823364	missense	not run
R7791:Spdl1	UTSW	11	34813477	missense	possibly damaging	0.83
R7844:Spdl1	UTSW	11	34813343	missense	possibly damaging	0.82
R8029:Spdl1	UTSW	11	34822592	missense	probably benign	0.00
Z1176:Spdl1	UTSW	11	34822457	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CTGGGAACATAGACAGAGCCAC -3'
(R):5'- TGCCATTGAATATAACCACGCCAG -3'

Sequencing Primer
(F):5'- TGGGGGTATTCCCACTTT -3'
(R):5'- TTGAATATAACCACGCCAGAAGAAAC -3'

Posted On

2020-10-20