Mutagenetix > Incidental Mutation

Incidental Mutation 'R6714:Spdl1'

543500

Institutional Source

Beutler Lab

Gene Symbol

Spdl1

Ensembl Gene

ENSMUSG00000069910

Gene Name

spindle apparatus coiled-coil protein 1

Synonyms

2600001J17Rik, Ccdc99, 1700018I02Rik, 2810049B11Rik

MMRRC Submission

044832-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R6714 (G1)

Quality Score

70.0074

Status

Validated

Chromosome

Chromosomal Location

34700017-34724468 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 34713830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000090882 (fasta)

Gene Model

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

AlphaFold

Q923A2

Predicted Effect

probably null
Transcript: ENSMUST00000093191

SMART Domains

Protein: ENSMUSP00000090882
Gene: ENSMUSG00000069910

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (48/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC061237	A	T	14: 44,741,639 (GRCm39)	R127S	possibly damaging	Het
Bub1	C	A	2: 127,656,652 (GRCm39)	M463I	probably benign	Het
Cdh23	T	C	10: 60,167,609 (GRCm39)	I1794V	possibly damaging	Het
Clspn	C	T	4: 126,459,561 (GRCm39)	T320M	probably damaging	Het
Coch	A	C	12: 51,649,520 (GRCm39)	D277A	probably damaging	Het
Col5a3	C	T	9: 20,690,329 (GRCm39)	G1162R	probably damaging	Het
Dnah7c	A	T	1: 46,779,966 (GRCm39)	I3223F	probably damaging	Het
E2f6	G	A	12: 16,869,003 (GRCm39)	V109I	probably damaging	Het
Edem2	A	T	2: 155,570,809 (GRCm39)		probably null	Het
Efcab8	A	G	2: 153,631,130 (GRCm39)	K187E	probably damaging	Het
Fam184a	T	C	10: 53,574,979 (GRCm39)	N210S	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fsip2	A	G	2: 82,809,878 (GRCm39)	I2066V	probably benign	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gpc5	C	T	14: 115,789,715 (GRCm39)	Q530*	probably null	Het
Hmcn1	A	T	1: 150,579,926 (GRCm39)	I1937K	probably damaging	Het
Hpx	G	A	7: 105,244,302 (GRCm39)	R269C	probably damaging	Het
Ice1	T	C	13: 70,763,382 (GRCm39)		probably null	Het
Kbtbd4	A	T	2: 90,736,183 (GRCm39)		probably benign	Het
Ldlrad3	T	C	2: 101,783,297 (GRCm39)	T310A	probably benign	Het
Lrp4	G	A	2: 91,306,710 (GRCm39)	S341N	possibly damaging	Het
Map3k3	T	C	11: 106,005,048 (GRCm39)	V69A	possibly damaging	Het
Myh8	T	C	11: 67,197,775 (GRCm39)	Y1881H	probably damaging	Het
Nectin4	A	T	1: 171,198,218 (GRCm39)		probably benign	Het
Nhsl1	G	T	10: 18,400,459 (GRCm39)	V562L	possibly damaging	Het
Or4k5	A	T	14: 50,385,671 (GRCm39)	I220K	possibly damaging	Het
Or6c205	T	A	10: 129,086,809 (GRCm39)	N135K	possibly damaging	Het
Pcdhga7	T	A	18: 37,850,330 (GRCm39)	V779E	probably benign	Het
Peg12	T	A	7: 62,113,317 (GRCm39)	H260L	unknown	Het
Qrfpr	A	T	3: 36,234,405 (GRCm39)	M312K	possibly damaging	Het
Rbl2	T	A	8: 91,833,415 (GRCm39)	I730N	possibly damaging	Het
Rbm39	G	C	2: 156,003,538 (GRCm39)	L281V	possibly damaging	Het
Setd1b	A	G	5: 123,295,654 (GRCm39)	E1074G	unknown	Het
Sfr1	A	G	19: 47,723,405 (GRCm39)	D303G	probably damaging	Het
Slc7a12	T	C	3: 14,546,380 (GRCm39)	V175A	probably benign	Het
Slc8a1	A	T	17: 81,715,678 (GRCm39)	L785Q	probably damaging	Het
Spg11	T	C	2: 121,926,212 (GRCm39)	I694M	probably damaging	Het
Tasor2	A	T	13: 3,644,189 (GRCm39)	F143L	probably benign	Het
Trpc1	A	T	9: 95,605,326 (GRCm39)	L111Q	probably damaging	Het
Tti1	A	G	2: 157,848,971 (GRCm39)	V756A	possibly damaging	Het
Unc93a2	T	G	17: 7,643,937 (GRCm39)	E124A	probably benign	Het
Usp32	A	T	11: 84,917,696 (GRCm39)	I777N	probably damaging	Het
Zbtb8b	C	T	4: 129,326,776 (GRCm39)	E97K	probably damaging	Het
Zfhx4	A	G	3: 5,306,897 (GRCm39)	D41G	probably damaging	Het
Zfp493	A	T	13: 67,934,499 (GRCm39)	S151C	probably benign	Het
Zfp503	T	C	14: 22,035,825 (GRCm39)	T364A	probably benign	Het
Zfp507	T	C	7: 35,487,152 (GRCm39)	K772R	probably damaging	Het
Zfp804b	T	A	5: 6,819,239 (GRCm39)	M1275L	probably benign	Het
Zfp811	G	A	17: 33,016,736 (GRCm39)	H434Y	probably damaging	Het

Other mutations in Spdl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02417:Spdl1	APN	11	34,704,181 (GRCm39)	missense	probably benign	0.27
IGL02694:Spdl1	APN	11	34,704,448 (GRCm39)	missense	probably benign	0.05
IGL03131:Spdl1	APN	11	34,721,592 (GRCm39)	missense	possibly damaging	0.46
R0295:Spdl1	UTSW	11	34,704,170 (GRCm39)	missense	possibly damaging	0.82
R0319:Spdl1	UTSW	11	34,714,347 (GRCm39)	missense	possibly damaging	0.66
R1017:Spdl1	UTSW	11	34,710,117 (GRCm39)	missense	possibly damaging	0.66
R1195:Spdl1	UTSW	11	34,710,644 (GRCm39)	missense	probably damaging	0.97
R1195:Spdl1	UTSW	11	34,710,644 (GRCm39)	missense	probably damaging	0.97
R1195:Spdl1	UTSW	11	34,710,644 (GRCm39)	missense	probably damaging	0.97
R1296:Spdl1	UTSW	11	34,704,434 (GRCm39)	missense	unknown
R1315:Spdl1	UTSW	11	34,704,234 (GRCm39)	missense	unknown
R1799:Spdl1	UTSW	11	34,711,856 (GRCm39)	nonsense	probably null
R2002:Spdl1	UTSW	11	34,713,473 (GRCm39)	missense	probably benign
R2291:Spdl1	UTSW	11	34,710,136 (GRCm39)	nonsense	probably null
R4771:Spdl1	UTSW	11	34,704,154 (GRCm39)	missense	probably damaging	0.98
R5030:Spdl1	UTSW	11	34,714,267 (GRCm39)	missense	probably benign	0.00
R5167:Spdl1	UTSW	11	34,704,187 (GRCm39)	missense	possibly damaging	0.79
R5477:Spdl1	UTSW	11	34,713,037 (GRCm39)	missense	possibly damaging	0.66
R6258:Spdl1	UTSW	11	34,710,713 (GRCm39)	missense	probably damaging	0.97
R6260:Spdl1	UTSW	11	34,710,713 (GRCm39)	missense	probably damaging	0.97
R6554:Spdl1	UTSW	11	34,713,397 (GRCm39)	missense	possibly damaging	0.82
R6695:Spdl1	UTSW	11	34,713,830 (GRCm39)	splice site	probably null
R6980:Spdl1	UTSW	11	34,721,706 (GRCm39)	start codon destroyed	probably null	0.04
R7355:Spdl1	UTSW	11	34,714,191 (GRCm39)	missense	not run
R7791:Spdl1	UTSW	11	34,704,304 (GRCm39)	missense	possibly damaging	0.83
R7844:Spdl1	UTSW	11	34,704,170 (GRCm39)	missense	possibly damaging	0.82
R8029:Spdl1	UTSW	11	34,713,419 (GRCm39)	missense	probably benign	0.00
R8515:Spdl1	UTSW	11	34,704,252 (GRCm39)	missense	possibly damaging	0.92
R8923:Spdl1	UTSW	11	34,704,478 (GRCm39)	missense	possibly damaging	0.66
R9005:Spdl1	UTSW	11	34,700,535 (GRCm39)	missense	possibly damaging	0.83
R9502:Spdl1	UTSW	11	34,713,283 (GRCm39)	missense	possibly damaging	0.66
Z1176:Spdl1	UTSW	11	34,713,284 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TAAGGTTGCCAAGTATATCCAAGC -3'
(R):5'- GCTGCAGAACTTTCAGGTGGAC -3'

Sequencing Primer
(F):5'- ctctctttctctctttctctct -3'
(R):5'- CCCTGGCGTCATTTATAG -3'

Posted On

2019-01-30