Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03131:Spdl1'

410320

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spdl1

Ensembl Gene

ENSMUSG00000069910

Gene Name

spindle apparatus coiled-coil protein 1

Synonyms

2600001J17Rik, Ccdc99, 1700018I02Rik, 2810049B11Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

IGL03131

Quality Score

Status

Chromosome

Chromosomal Location

34700017-34724468 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34721592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 39 (Q39L)

Ref Sequence

ENSEMBL: ENSMUSP00000090882 (fasta)

Gene Model

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

AlphaFold

Q923A2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093191
AA Change: Q39L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000090882
Gene: ENSMUSG00000069910
AA Change: Q39L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148387

Coding Region Coverage

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,473,251 (GRCm39)	R135S	unknown	Het
A1bg	T	C	15: 60,791,605 (GRCm39)	Y277C	probably damaging	Het
Abca12	A	T	1: 71,385,861 (GRCm39)	F252L	probably benign	Het
Abcd3	A	T	3: 121,575,640 (GRCm39)		probably benign	Het
Acvr2b	C	A	9: 119,260,350 (GRCm39)	F364L	possibly damaging	Het
Adamts12	T	C	15: 11,345,650 (GRCm39)	C1564R	probably damaging	Het
Agap3	A	G	5: 24,682,130 (GRCm39)	T392A	probably benign	Het
Ano1	A	G	7: 144,157,322 (GRCm39)	F767L	possibly damaging	Het
Atg10	C	A	13: 91,085,412 (GRCm39)	R179I	probably null	Het
Bsph1	A	T	7: 13,207,012 (GRCm39)	K129N	probably damaging	Het
Calml4	A	G	9: 62,782,765 (GRCm39)	D77G	probably benign	Het
Cc2d1a	T	A	8: 84,870,056 (GRCm39)	K153M	probably damaging	Het
Col4a2	G	A	8: 11,475,979 (GRCm39)	V672I	probably benign	Het
Crnkl1	T	C	2: 145,774,178 (GRCm39)	K95R	probably benign	Het
Crtap	T	C	9: 114,209,072 (GRCm39)	D324G	possibly damaging	Het
Csmd1	C	T	8: 16,138,231 (GRCm39)	G1607E	probably damaging	Het
Dcbld2	T	G	16: 58,272,051 (GRCm39)	I369R	probably benign	Het
Dmc1	T	A	15: 79,452,892 (GRCm39)	I246L	probably benign	Het
Dock1	G	T	7: 134,475,912 (GRCm39)	V896L	possibly damaging	Het
Eftud2	G	A	11: 102,761,009 (GRCm39)	T112M	probably damaging	Het
F5	A	T	1: 163,989,388 (GRCm39)	I97F	possibly damaging	Het
Fasn	C	T	11: 120,701,550 (GRCm39)	V1939M	possibly damaging	Het
Gpatch2l	T	C	12: 86,328,285 (GRCm39)	V414A	probably benign	Het
Gpd2	T	C	2: 57,228,855 (GRCm39)		probably benign	Het
Gria4	T	G	9: 4,432,876 (GRCm39)	N769T	probably damaging	Het
Gtf3c2	A	T	5: 31,314,964 (GRCm39)	F885I	probably damaging	Het
Ifi209	C	T	1: 173,468,800 (GRCm39)	T210I	possibly damaging	Het
Kmt2c	A	G	5: 25,520,359 (GRCm39)	V1917A	probably benign	Het
Mad1l1	G	A	5: 140,293,458 (GRCm39)	A120V	probably benign	Het
Mef2c	T	C	13: 83,810,494 (GRCm39)	I382T	probably damaging	Het
Ms4a14	A	T	19: 11,285,056 (GRCm39)	L171I	probably benign	Het
Myf6	T	A	10: 107,330,132 (GRCm39)	Q145L	probably damaging	Het
Myh3	G	A	11: 66,981,935 (GRCm39)		probably benign	Het
Nbas	A	G	12: 13,329,417 (GRCm39)	I121V	probably benign	Het
Ncoa2	A	T	1: 13,247,398 (GRCm39)	S342T	probably damaging	Het
Nlrp1b	C	T	11: 71,052,741 (GRCm39)	D896N	possibly damaging	Het
Prss41	A	G	17: 24,061,498 (GRCm39)	Y98H	probably benign	Het
Ptpn13	A	T	5: 103,665,425 (GRCm39)	T450S	probably benign	Het
Rab39	G	A	9: 53,597,861 (GRCm39)	R135C	probably damaging	Het
Radil	A	G	5: 142,481,097 (GRCm39)	V570A	probably damaging	Het
Sbno1	C	T	5: 124,526,668 (GRCm39)	R949Q	probably damaging	Het
Sec61a2	T	A	2: 5,887,689 (GRCm39)	K98*	probably null	Het
Serbp1	T	A	6: 67,258,807 (GRCm39)		probably null	Het
Serpinb3c	G	T	1: 107,199,457 (GRCm39)	Q355K	probably benign	Het
Slc34a3	T	G	2: 25,121,246 (GRCm39)	D307A	probably benign	Het
Smarcad1	T	A	6: 65,051,937 (GRCm39)	S357T	probably damaging	Het
Spag17	G	A	3: 99,918,075 (GRCm39)	D353N	possibly damaging	Het
Syne2	A	C	12: 76,104,264 (GRCm39)	Q5485P	probably damaging	Het
Synj1	C	A	16: 90,785,056 (GRCm39)	V227F	probably damaging	Het
Syt12	T	C	19: 4,506,882 (GRCm39)	T88A	probably benign	Het
Tasor	C	T	14: 27,183,136 (GRCm39)	Q532*	probably null	Het
Tlr12	A	G	4: 128,509,670 (GRCm39)	F860S	probably damaging	Het
Trdn	C	A	10: 33,274,410 (GRCm39)	S461*	probably null	Het
Trip4	G	A	9: 65,764,727 (GRCm39)	P413S	probably benign	Het
Wdr17	A	G	8: 55,149,302 (GRCm39)		probably null	Het
Wnt9a	T	C	11: 59,221,855 (GRCm39)	L251P	probably damaging	Het
Xrcc1	A	T	7: 24,272,719 (GRCm39)	K618*	probably null	Het
Zfp759	T	C	13: 67,286,728 (GRCm39)	L93P	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
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
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

Posted On

2016-08-02