Mutagenetix > Incidental Mutation

Incidental Mutation 'R7712:Spc25'

594660

Institutional Source

Beutler Lab

Gene Symbol

Spc25

Ensembl Gene

ENSMUSG00000005233

Gene Name

SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)

Synonyms

2600017H08Rik, 2610205L13Rik, Spbc25

MMRRC Submission

045770-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R7712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69024239-69036538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69036481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 7 (R7S)

Ref Sequence

ENSEMBL: ENSMUSP00000120142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005365] [ENSMUST00000112320] [ENSMUST00000127243] [ENSMUST00000149045] [ENSMUST00000149643] [ENSMUST00000167875]

AlphaFold

Q3UA16

Predicted Effect

probably benign
Transcript: ENSMUST00000005365

SMART Domains

Protein: ENSMUSP00000005365
Gene: ENSMUSG00000005233

Domain	Start	End	E-Value	Type
low complexity region	46	57	N/A	INTRINSIC
Pfam:Spindle_Spc25	148	222	6.3e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112320

SMART Domains

Protein: ENSMUSP00000107939
Gene: ENSMUSG00000005233

Domain	Start	End	E-Value	Type
low complexity region	46	57	N/A	INTRINSIC
Pfam:Spindle_Spc25	150	221	1.3e-23	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000127243
AA Change: R7S

SMART Domains

Protein: ENSMUSP00000120142
Gene: ENSMUSG00000005233
AA Change: R7S

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
low complexity region	30	44	N/A	INTRINSIC
coiled coil region	57	113	N/A	INTRINSIC
Pfam:Spindle_Spc25	133	207	4.5e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149045

SMART Domains

Protein: ENSMUSP00000120999
Gene: ENSMUSG00000005233

Domain	Start	End	E-Value	Type
Pfam:Spindle_Spc25	100	133	3.7e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149643

SMART Domains

Protein: ENSMUSP00000117415
Gene: ENSMUSG00000005233

Domain	Start	End	E-Value	Type
low complexity region	46	57	N/A	INTRINSIC
PDB:3IZ0\|E	99	167	3e-22	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000167875

SMART Domains

Protein: ENSMUSP00000128039
Gene: ENSMUSG00000005233

Domain	Start	End	E-Value	Type
Pfam:Spindle_Spc25	100	174	1.7e-27	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a component of the kinetochore-associated NDC80 protein complex, which is required for the mitotic spindle checkpoint and for microtubule-kinetochore attachment. During meiosis in mouse, the protein localizes to the germinal vesicle and then is associated with the chromosomes following germinal vesicle breakdown. Knockdown of this gene in oocytes results in precocious polar body extrusion, chromosome misalignment and aberrant spindle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	C	5: 114,303,799 (GRCm39)	D74A	probably benign	Het
Alox15	T	C	11: 70,241,079 (GRCm39)		probably null	Het
Ano5	A	G	7: 51,222,805 (GRCm39)	T455A	probably benign	Het
Ano5	T	G	7: 51,240,403 (GRCm39)	I827S	probably damaging	Het
Arid1a	G	A	4: 133,479,922 (GRCm39)	A334V	probably benign	Het
Atp13a4	A	G	16: 29,278,305 (GRCm39)	C298R		Het
Atp4a	T	A	7: 30,414,978 (GRCm39)	S256T	probably damaging	Het
Atp6v1c1	G	A	15: 38,687,049 (GRCm39)	V215I	probably benign	Het
Bbs9	T	A	9: 22,582,109 (GRCm39)	F600L	probably benign	Het
Bmp8b	A	T	4: 123,018,257 (GRCm39)	Y376F	possibly damaging	Het
Cacna2d1	A	T	5: 16,567,347 (GRCm39)	D986V	probably damaging	Het
Ccdc162	A	G	10: 41,503,223 (GRCm39)	F973S	possibly damaging	Het
Ccdc177	G	A	12: 80,804,712 (GRCm39)	Q521*	probably null	Het
Cd209b	T	A	8: 3,973,299 (GRCm39)	E158D	possibly damaging	Het
Cdk14	G	A	5: 5,430,061 (GRCm39)	T22I	possibly damaging	Het
Chl1	A	T	6: 103,688,063 (GRCm39)	I968F	possibly damaging	Het
Cnot7	T	C	8: 40,947,122 (GRCm39)	Y255C	probably damaging	Het
Col4a2	T	A	8: 11,475,376 (GRCm39)	L600H	probably benign	Het
Cpne7	C	A	8: 123,850,920 (GRCm39)	L129M	probably damaging	Het
Cpxm2	G	T	7: 131,756,107 (GRCm39)	P79Q	possibly damaging	Het
Dhx9	T	A	1: 153,340,747 (GRCm39)	N631I	probably benign	Het
Dmxl1	T	C	18: 50,026,528 (GRCm39)	S1879P	probably damaging	Het
Dnhd1	T	A	7: 105,300,831 (GRCm39)	F63I	probably benign	Het
Dok7	A	G	5: 35,223,866 (GRCm39)	N98S	probably damaging	Het
Fgd2	A	G	17: 29,595,886 (GRCm39)	T515A	probably benign	Het
Fmo1	T	C	1: 162,663,704 (GRCm39)	D275G	probably benign	Het
Gm5796	A	G	14: 15,379,960 (GRCm39)	Y90C	probably damaging	Het
H60b	C	A	10: 22,161,637 (GRCm39)	H42N	possibly damaging	Het
Hipk2	A	G	6: 38,680,569 (GRCm39)	S924P	probably benign	Het
Hpf1	C	A	8: 61,358,613 (GRCm39)	S27*	probably null	Het
Idua	T	G	5: 108,829,388 (GRCm39)	D443E	probably benign	Het
Lamc2	C	T	1: 153,009,357 (GRCm39)	G816D	possibly damaging	Het
Lgi3	T	A	14: 70,768,551 (GRCm39)	V16E	unknown	Het
Lpar1	T	A	4: 58,486,795 (GRCm39)	M159L	probably benign	Het
Magi2	A	G	5: 20,755,280 (GRCm39)	D618G	possibly damaging	Het
Man2b2	C	G	5: 36,967,658 (GRCm39)	Q903H	probably benign	Het
Marchf7	A	T	2: 60,065,334 (GRCm39)	K537*	probably null	Het
Mcoln1	T	C	8: 3,555,873 (GRCm39)	F56S	probably damaging	Het
Myh7	C	G	14: 55,226,258 (GRCm39)	D461H	probably damaging	Het
Myo1b	A	T	1: 51,832,836 (GRCm39)	M383K	probably damaging	Het
Or12k7	A	T	2: 36,958,916 (GRCm39)	T200S	probably damaging	Het
Or1f19	T	C	16: 3,410,295 (GRCm39)	F12L	probably damaging	Het
Or8a1b	T	C	9: 37,623,429 (GRCm39)	I49V	probably damaging	Het
Pars2	T	A	4: 106,511,276 (GRCm39)	Y353N	probably damaging	Het
Pcdha8	A	C	18: 37,125,737 (GRCm39)	D73A	possibly damaging	Het
Pcdhga8	C	T	18: 37,860,102 (GRCm39)	T386M	possibly damaging	Het
Pdzd2	G	T	15: 12,407,422 (GRCm39)	T346N	probably damaging	Het
Pik3c2b	A	G	1: 133,013,349 (GRCm39)	Q781R	probably damaging	Het
Pp2d1	T	A	17: 53,815,318 (GRCm39)	T469S	possibly damaging	Het
Sectm1a	G	A	11: 120,959,631 (GRCm39)	L166F	probably damaging	Het
Sgms1	T	A	19: 32,120,169 (GRCm39)	M246L	probably benign	Het
Shroom3	G	A	5: 93,098,806 (GRCm39)	G1429S	probably benign	Het
Snx17	T	A	5: 31,352,804 (GRCm39)	F101Y	probably damaging	Het
Sowahb	C	T	5: 93,191,240 (GRCm39)	S493N	probably benign	Het
Sult2b1	A	G	7: 45,379,620 (GRCm39)	I308T	probably benign	Het
Tkt	A	G	14: 30,280,763 (GRCm39)	N65D	probably benign	Het
Ttc5	A	T	14: 51,010,769 (GRCm39)	S221T	probably benign	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Wipf1	A	C	2: 73,274,805 (GRCm39)	S55R	probably damaging	Het
Zdbf2	T	C	1: 63,344,530 (GRCm39)	S970P	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp362	A	T	4: 128,671,203 (GRCm39)	H313Q	probably benign	Het
Zfy2	T	A	Y: 2,121,420 (GRCm39)	I158F	probably benign	Het

Other mutations in Spc25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01757:Spc25	APN	2	69,032,952 (GRCm39)	nonsense	probably null
IGL02273:Spc25	APN	2	69,035,273 (GRCm39)	splice site	probably benign
IGL03163:Spc25	APN	2	69,027,548 (GRCm39)	missense	probably damaging	1.00
R1519:Spc25	UTSW	2	69,030,431 (GRCm39)	missense	probably damaging	1.00
R1604:Spc25	UTSW	2	69,035,498 (GRCm39)	missense	probably damaging	0.99
R2913:Spc25	UTSW	2	69,030,331 (GRCm39)	missense	probably benign	0.42
R3973:Spc25	UTSW	2	69,032,945 (GRCm39)	missense	probably damaging	1.00
R4094:Spc25	UTSW	2	69,032,975 (GRCm39)	missense	probably damaging	1.00
R4444:Spc25	UTSW	2	69,035,220 (GRCm39)	missense	probably benign	0.06
R5293:Spc25	UTSW	2	69,032,996 (GRCm39)	missense	possibly damaging	0.92
R6242:Spc25	UTSW	2	69,027,555 (GRCm39)	missense	probably damaging	1.00
R6433:Spc25	UTSW	2	69,036,446 (GRCm39)	utr 5 prime	probably benign
R6721:Spc25	UTSW	2	69,027,517 (GRCm39)	missense	possibly damaging	0.96
R7866:Spc25	UTSW	2	69,036,406 (GRCm39)	critical splice donor site	probably null
R8054:Spc25	UTSW	2	69,035,257 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCTGCATCAGACCCCTGG -3'
(R):5'- AGTTGTCCGCGAGAATTCC -3'

Sequencing Primer
(F):5'- GAACTCCGCGGCTAACAG -3'
(R):5'- CCGCAGGCCGATATCAAC -3'

Posted On

2019-11-12