Mutagenetix > Incidental Mutation

Incidental Mutation 'R8029:Spdl1'

617838

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

067468-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R8029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34700017-34724468 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34713419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 217 (R217G)

Ref Sequence

ENSEMBL: ENSMUSP00000090882 (fasta)

Gene Model

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

AlphaFold

Q923A2

Predicted Effect

probably benign
Transcript: ENSMUST00000093191
AA Change: R217G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000090882
Gene: ENSMUSG00000069910
AA Change: R217G

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: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,186,129 (GRCm39)	I118T	possibly damaging	Het
Alpk1	T	C	3: 127,522,934 (GRCm39)	D36G	possibly damaging	Het
Aox1	G	A	1: 58,382,827 (GRCm39)	V1036I	probably benign	Het
Arhgef1	T	C	7: 24,619,163 (GRCm39)	L468P	probably damaging	Het
Armc2	A	T	10: 41,802,996 (GRCm39)	L559Q	probably damaging	Het
Asb3	A	T	11: 31,051,180 (GRCm39)	R506*	probably null	Het
Aspm	A	G	1: 139,399,370 (GRCm39)	H1045R	probably benign	Het
Cacna1g	G	T	11: 94,300,564 (GRCm39)	R2099S	probably benign	Het
Cd177	C	T	7: 24,455,594 (GRCm39)	W309*	probably null	Het
Cd34	A	C	1: 194,640,860 (GRCm39)	M242L	probably benign	Het
Cdh24	T	A	14: 54,876,856 (GRCm39)	N49I	probably damaging	Het
Ces2b	A	G	8: 105,561,482 (GRCm39)	N192S	probably damaging	Het
Chsy3	A	G	18: 59,312,519 (GRCm39)	I331V	possibly damaging	Het
Disp1	A	G	1: 182,870,852 (GRCm39)	S523P	probably damaging	Het
Dlgap5	T	C	14: 47,653,897 (GRCm39)	H44R	probably benign	Het
Dnajc30	G	T	5: 135,093,186 (GRCm39)	A28S	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Exd1	A	T	2: 119,359,204 (GRCm39)	H226Q	probably damaging	Het
Gata6	T	A	18: 11,054,944 (GRCm39)	V291E	possibly damaging	Het
Get3	T	C	8: 85,746,456 (GRCm39)	M131V	probably benign	Het
Gfi1b	A	T	2: 28,503,687 (GRCm39)		probably null	Het
Grk3	T	A	5: 113,109,508 (GRCm39)	I150L	probably benign	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Idua	T	C	5: 108,817,278 (GRCm39)	F17S	probably benign	Het
Ighg1	T	C	12: 113,292,765 (GRCm39)	K268R		Het
Lama1	G	T	17: 68,124,589 (GRCm39)	R2883M		Het
Lpar3	T	C	3: 145,946,718 (GRCm39)	M132T	probably benign	Het
Macf1	T	C	4: 123,338,685 (GRCm39)	T4351A	possibly damaging	Het
Marchf6	A	G	15: 31,496,148 (GRCm39)		probably null	Het
Mbtps1	C	A	8: 120,274,544 (GRCm39)		probably benign	Het
Mctp1	T	C	13: 77,178,005 (GRCm39)	Y931H	probably damaging	Het
Mug2	A	G	6: 122,058,504 (GRCm39)		probably null	Het
Myh1	G	T	11: 67,102,066 (GRCm39)		probably null	Het
Mylk2	T	C	2: 152,762,219 (GRCm39)	S497P	probably damaging	Het
Nectin4	A	G	1: 171,214,255 (GRCm39)	D470G	probably benign	Het
Nop2	C	T	6: 125,121,383 (GRCm39)	P722S	possibly damaging	Het
Nphp1	T	C	2: 127,583,036 (GRCm39)	T626A	probably benign	Het
Nudt9	C	T	5: 104,198,477 (GRCm39)		probably benign	Het
Oplah	T	C	15: 76,189,896 (GRCm39)	Y143C	probably benign	Het
Or10a3m	T	A	7: 108,313,037 (GRCm39)	F159Y	possibly damaging	Het
Or12e10	A	G	2: 87,640,376 (GRCm39)	T71A	probably benign	Het
Or7e178	A	G	9: 20,225,643 (GRCm39)	F191S	possibly damaging	Het
Or7g20	T	C	9: 18,947,090 (GRCm39)	S224P	probably damaging	Het
Osbpl1a	T	G	18: 13,047,578 (GRCm39)	E125D	probably benign	Het
P2ry1	C	A	3: 60,910,943 (GRCm39)	N27K	possibly damaging	Het
Palld	A	T	8: 62,330,346 (GRCm39)	I177N	probably damaging	Het
Plcl1	A	T	1: 55,735,237 (GRCm39)	I193L	probably benign	Het
Polr1a	T	A	6: 71,889,940 (GRCm39)	L53*	probably null	Het
Ppp1r9a	A	G	6: 5,057,518 (GRCm39)	E531G	possibly damaging	Het
Prex1	C	A	2: 166,417,523 (GRCm39)	Q1361H	probably benign	Het
Ptprc	T	C	1: 138,006,197 (GRCm39)	E795G	probably damaging	Het
Rars1	C	T	11: 35,711,992 (GRCm39)	V295I	probably damaging	Het
Rnaseh2b	T	C	14: 62,590,997 (GRCm39)	V116A	possibly damaging	Het
Rnf43	T	A	11: 87,622,720 (GRCm39)	L480H	probably benign	Het
Rttn	A	G	18: 89,108,598 (GRCm39)	T1601A	not run	Het
Setd1a	C	G	7: 127,385,386 (GRCm39)	Q698E	probably benign	Het
Sh3gl3	T	C	7: 81,920,091 (GRCm39)	Y100H	probably benign	Het
Sis	T	C	3: 72,828,475 (GRCm39)	Y1200C	probably damaging	Het
Snx13	A	C	12: 35,169,885 (GRCm39)	H610P	probably damaging	Het
Spata31d1e	T	C	13: 59,890,191 (GRCm39)	H543R	possibly damaging	Het
Spop	G	A	11: 95,365,193 (GRCm39)	E113K	probably benign	Het
Sult2a3	G	A	7: 13,855,553 (GRCm39)	P101L	probably damaging	Het
Tbl1xr1	C	T	3: 22,254,600 (GRCm39)	H348Y	probably damaging	Het
Tmie	T	C	9: 110,696,555 (GRCm39)	T109A	possibly damaging	Het
Ttc12	A	G	9: 49,381,551 (GRCm39)	V140A	possibly damaging	Het
Ube2m	A	G	7: 12,770,524 (GRCm39)	L58P	probably damaging	Het
Urb1	A	G	16: 90,576,040 (GRCm39)	S839P	possibly damaging	Het
Vmn2r117	T	A	17: 23,696,744 (GRCm39)	D221V	probably benign	Het
Vps41	C	T	13: 19,007,955 (GRCm39)	Q263*	probably null	Het
Zfand3	A	T	17: 30,354,407 (GRCm39)	T75S	probably benign	Het
Zscan26	A	G	13: 21,629,520 (GRCm39)	C202R	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
R6714: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
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'- CAGCGAGTTCCCTTTGCTATTG -3'
(R):5'- TGGCAACCTTAGAATGGTTTTC -3'

Sequencing Primer
(F):5'- TGCTATTGGGGTCCGCC -3'
(R):5'- GCAACCTTAGAATGGTTTTCTTTTG -3'

Posted On

2020-01-23