Mutagenetix > Incidental Mutation

Incidental Mutation 'R6433:Spc25'

518621

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

044571-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R6433 (G1)

Quality Score

196.009

Status

Validated

Chromosome

Chromosomal Location

69024239-69036538 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 69036446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128039 (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

noncoding transcript
Transcript: ENSMUST00000126638

Predicted Effect

unknown
Transcript: ENSMUST00000127243
AA Change: V19A

SMART Domains

Protein: ENSMUSP00000120142
Gene: ENSMUSG00000005233
AA Change: V19A

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

noncoding transcript
Transcript: ENSMUST00000129288

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

noncoding transcript
Transcript: ENSMUST00000149401

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150505

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	A	17: 14,101,561 (GRCm39)	D1016E	probably damaging	Het
Aplnr	A	T	2: 84,967,017 (GRCm39)	Q14L	probably benign	Het
Aspm	T	C	1: 139,401,421 (GRCm39)	L1147S	probably damaging	Het
Atad2b	A	G	12: 5,002,642 (GRCm39)	T337A	possibly damaging	Het
Atrn	A	G	2: 130,864,947 (GRCm39)	E1358G	probably damaging	Het
Caml	C	A	13: 55,771,062 (GRCm39)	S53R	possibly damaging	Het
Cd180	T	G	13: 102,842,141 (GRCm39)	S396A	probably benign	Het
Cdhr2	A	G	13: 54,866,325 (GRCm39)	T344A	probably damaging	Het
Cyp4a31	A	C	4: 115,427,466 (GRCm39)	D224A	probably damaging	Het
Dhx36	T	C	3: 62,392,395 (GRCm39)	T544A	probably damaging	Het
Dnah14	A	G	1: 181,479,222 (GRCm39)	K1528E	probably damaging	Het
Dnpep	T	A	1: 75,292,022 (GRCm39)	K199N	probably benign	Het
Dsc2	C	T	18: 20,184,232 (GRCm39)		probably null	Het
Efl1	T	A	7: 82,323,776 (GRCm39)	D239E	probably damaging	Het
Elovl4	A	G	9: 83,667,231 (GRCm39)	V42A	possibly damaging	Het
Exoc3	T	C	13: 74,337,306 (GRCm39)	T432A	possibly damaging	Het
Fam98c	A	G	7: 28,855,553 (GRCm39)		probably null	Het
Fbln2	G	A	6: 91,210,254 (GRCm39)	G66D	probably damaging	Het
Fchsd1	G	A	18: 38,097,137 (GRCm39)	T410I	possibly damaging	Het
Flcn	T	C	11: 59,691,908 (GRCm39)	D247G	probably damaging	Het
Galnt16	T	C	12: 80,622,677 (GRCm39)	V127A	probably benign	Het
H2-Ob	A	T	17: 34,462,860 (GRCm39)		probably null	Het
Has2	G	A	15: 56,531,194 (GRCm39)	S507F	possibly damaging	Het
Ido2	T	A	8: 25,023,939 (GRCm39)	M300L	probably damaging	Het
Itga10	T	C	3: 96,565,357 (GRCm39)		probably null	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Mfsd2a	A	G	4: 122,844,250 (GRCm39)	V299A	probably benign	Het
Mybpc1	T	C	10: 88,396,217 (GRCm39)	D210G	probably damaging	Het
Ndrg1	A	T	15: 66,805,721 (GRCm39)	M128K	probably damaging	Het
Obscn	T	A	11: 58,942,384 (GRCm39)	T5091S	probably benign	Het
Or2j3	A	G	17: 38,616,304 (GRCm39)	L16P	probably damaging	Het
Pex5	A	T	6: 124,390,572 (GRCm39)	M91K	possibly damaging	Het
Phlpp2	G	T	8: 110,661,317 (GRCm39)	A810S	probably benign	Het
Pla2g7	G	C	17: 43,910,017 (GRCm39)	A174P	probably damaging	Het
Plxna4	C	T	6: 32,192,613 (GRCm39)	V783M	probably damaging	Het
Poll	A	T	19: 45,542,043 (GRCm39)	M421K	probably benign	Het
Ppfia2	C	A	10: 106,749,559 (GRCm39)	S1148R	possibly damaging	Het
Prkg1	A	G	19: 30,758,746 (GRCm39)	F280S	probably benign	Het
Rdh10	G	A	1: 16,178,079 (GRCm39)	C117Y	probably damaging	Het
Rtl1	C	A	12: 109,561,630 (GRCm39)	A70S	unknown	Het
Scgb2b3	A	T	7: 31,058,492 (GRCm39)	L104I	probably benign	Het
Sh3tc1	T	C	5: 35,863,941 (GRCm39)	R749G	probably damaging	Het
Skint4	A	G	4: 112,003,707 (GRCm39)	K380R	probably benign	Het
Smtnl1	A	C	2: 84,648,712 (GRCm39)	S181A	probably benign	Het
Spata31d1b	T	C	13: 59,864,999 (GRCm39)	S716P	probably damaging	Het
Stab2	C	T	10: 86,737,431 (GRCm39)		probably null	Het
Timm22	T	C	11: 76,300,570 (GRCm39)	V114A	possibly damaging	Het
Timp4	A	G	6: 115,224,181 (GRCm39)	C163R	probably damaging	Het
Toporsl	T	A	4: 52,611,548 (GRCm39)	N480K	possibly damaging	Het
Tpo	T	C	12: 30,134,753 (GRCm39)	E735G	probably benign	Het
Trpm3	A	G	19: 22,878,669 (GRCm39)	D692G	probably damaging	Het
Ttn	T	C	2: 76,582,058 (GRCm39)	H22945R	probably damaging	Het
Vmn2r6	A	T	3: 64,454,801 (GRCm39)	Y499*	probably null	Het
Vwa1	G	A	4: 155,857,226 (GRCm39)	H191Y	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
R6721:Spc25	UTSW	2	69,027,517 (GRCm39)	missense	possibly damaging	0.96
R7712:Spc25	UTSW	2	69,036,481 (GRCm39)	missense	unknown
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'- GGTTTTCTGCATCAGACCCCTG -3'
(R):5'- ACCAATCCTTGCACGGAGAG -3'

Sequencing Primer
(F):5'- GGAGTGTGATCGGGACCG -3'
(R):5'- AATCCTTGCACGGAGAGTCTGC -3'

Posted On

2018-05-24