Mutagenetix > Incidental Mutation

Incidental Mutation 'R8412:Cenpx'

652759

Institutional Source

Beutler Lab

Gene Symbol

Cenpx

Ensembl Gene

ENSMUSG00000025144

Gene Name

centromere protein X

Synonyms

Stra13

MMRRC Submission

067816-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R8412 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120601768-120604564 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120602558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 68 (H68Q)

Ref Sequence

ENSEMBL: ENSMUSP00000101761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026135] [ENSMUST00000026137] [ENSMUST00000026139] [ENSMUST00000055424] [ENSMUST00000103016] [ENSMUST00000106154] [ENSMUST00000106155] [ENSMUST00000106158] [ENSMUST00000106159] [ENSMUST00000106160] [ENSMUST00000145781] [ENSMUST00000151852] [ENSMUST00000168510] [ENSMUST00000168714] [ENSMUST00000168947]

AlphaFold

Q8C4X1

Predicted Effect

probably benign
Transcript: ENSMUST00000026135

SMART Domains

Protein: ENSMUSP00000026135
Gene: ENSMUSG00000025142

Domain	Start	End	E-Value	Type
Pfam:TUG-UBL1	15	78	1.4e-29	PFAM
low complexity region	193	206	N/A	INTRINSIC
low complexity region	284	313	N/A	INTRINSIC
coiled coil region	339	365	N/A	INTRINSIC
UBX	378	459	1.67e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026137
AA Change: M64K

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026137
Gene: ENSMUSG00000025144
AA Change: M64K

Domain	Start	End	E-Value	Type
Pfam:CENP-X	55	107	3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026139

SMART Domains

Protein: ENSMUSP00000026139
Gene: ENSMUSG00000025145

Domain	Start	End	E-Value	Type
LRR	57	84	9.11e0	SMART
LRR	85	112	1.01e-1	SMART
Blast:LRR	113	142	4e-11	BLAST
LRR	143	170	4.47e-3	SMART
LRR	171	198	2.2e-2	SMART
LRR	199	226	1.66e2	SMART
coiled coil region	360	645	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055424
AA Change: M35K

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050335
Gene: ENSMUSG00000025144
AA Change: M35K

Domain	Start	End	E-Value	Type
Pfam:CENP-X	8	78	7.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103016

SMART Domains

Protein: ENSMUSP00000099305
Gene: ENSMUSG00000025142

Domain	Start	End	E-Value	Type
low complexity region	116	129	N/A	INTRINSIC
low complexity region	207	236	N/A	INTRINSIC
coiled coil region	262	288	N/A	INTRINSIC
UBX	301	382	1.67e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106154
AA Change: M71K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101760
Gene: ENSMUSG00000025144
AA Change: M71K

Domain	Start	End	E-Value	Type
Pfam:CENP-X	44	114	6.1e-24	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000106155
AA Change: H68Q

SMART Domains

Protein: ENSMUSP00000101761
Gene: ENSMUSG00000025144
AA Change: H68Q

Domain	Start	End	E-Value	Type
low complexity region	39	50	N/A	INTRINSIC
low complexity region	86	110	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106158

SMART Domains

Protein: ENSMUSP00000101764
Gene: ENSMUSG00000025142

Domain	Start	End	E-Value	Type
low complexity region	116	129	N/A	INTRINSIC
low complexity region	207	236	N/A	INTRINSIC
coiled coil region	262	288	N/A	INTRINSIC
Blast:UBX	301	361	2e-29	BLAST
SCOP:d1h8ca_	308	364	2e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106159

SMART Domains

Protein: ENSMUSP00000101765
Gene: ENSMUSG00000025142

Domain	Start	End	E-Value	Type
low complexity region	116	129	N/A	INTRINSIC
low complexity region	207	236	N/A	INTRINSIC
coiled coil region	262	288	N/A	INTRINSIC
UBX	301	382	1.67e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106160

SMART Domains

Protein: ENSMUSP00000101766
Gene: ENSMUSG00000025142

Domain	Start	End	E-Value	Type
low complexity region	116	129	N/A	INTRINSIC
low complexity region	207	236	N/A	INTRINSIC
coiled coil region	262	288	N/A	INTRINSIC
Blast:UBX	301	361	2e-29	BLAST
SCOP:d1h8ca_	308	364	2e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145781

SMART Domains

Protein: ENSMUSP00000123038
Gene: ENSMUSG00000025145

Domain	Start	End	E-Value	Type
LRR	57	84	9.11e0	SMART
LRR	85	112	1.01e-1	SMART
Blast:LRR	113	142	1e-10	BLAST
LRR	143	170	4.47e-3	SMART
LRR	171	198	2.2e-2	SMART
LRR	199	226	1.66e2	SMART
coiled coil region	360	399	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151852

SMART Domains

Protein: ENSMUSP00000115298
Gene: ENSMUSG00000025145

Domain	Start	End	E-Value	Type
low complexity region	50	65	N/A	INTRINSIC
Pfam:LRR_6	85	108	1e-2	PFAM
Blast:LRR	113	142	3e-11	BLAST
Pfam:LRR_6	143	162	7.6e-3	PFAM
Pfam:LRR_1	145	159	6.8e-2	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166838

SMART Domains

Protein: ENSMUSP00000127202
Gene: ENSMUSG00000025142

Domain	Start	End	E-Value	Type
low complexity region	2	24	N/A	INTRINSIC
coiled coil region	49	75	N/A	INTRINSIC
Blast:UBX	89	119	7e-13	BLAST
SCOP:d1i42a_	92	119	4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167678

SMART Domains

Protein: ENSMUSP00000128940
Gene: ENSMUSG00000025142

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC
coiled coil region	37	63	N/A	INTRINSIC
Blast:UBX	77	107	8e-13	BLAST
SCOP:d1i42a_	80	107	5e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168510

SMART Domains

Protein: ENSMUSP00000125931
Gene: ENSMUSG00000025142

Domain	Start	End	E-Value	Type
low complexity region	52	65	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168714

SMART Domains

Protein: ENSMUSP00000129462
Gene: ENSMUSG00000025142

Domain	Start	End	E-Value	Type
SCOP:d1h8ca_	12	82	2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168947

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	T	A	1: 183,765,356 (GRCm39)	R234S	probably damaging	Het
Ace	T	A	11: 105,870,092 (GRCm39)	F806Y	probably benign	Het
Ak8	A	G	2: 28,629,643 (GRCm39)	T286A	probably benign	Het
Apba2	T	A	7: 64,395,546 (GRCm39)	F674Y	probably damaging	Het
Apob	A	G	12: 8,058,069 (GRCm39)	I2184V	probably benign	Het
Arhgap23	C	T	11: 97,356,854 (GRCm39)	P884L	probably benign	Het
Atg2a	T	C	19: 6,294,554 (GRCm39)	L90P	probably damaging	Het
Bhmt2	T	A	13: 93,798,820 (GRCm39)	I334F	possibly damaging	Het
Bmi1	C	T	2: 18,689,114 (GRCm39)	T266I	probably damaging	Het
Cdh26	A	G	2: 178,104,517 (GRCm39)	I301V	probably damaging	Het
Cnot10	T	C	9: 114,439,738 (GRCm39)	R524G	probably benign	Het
Cnpy1	A	T	5: 28,414,206 (GRCm39)	Y22*	probably null	Het
Csmd3	C	T	15: 47,499,794 (GRCm39)	R2114H		Het
Defa29	T	A	8: 21,816,062 (GRCm39)	T102S	probably benign	Het
Fras1	T	C	5: 96,744,711 (GRCm39)	I582T	probably benign	Het
Gm14295	G	A	2: 176,501,422 (GRCm39)	C304Y	probably damaging	Het
Gucy2d	T	C	7: 98,093,046 (GRCm39)	V141A	possibly damaging	Het
Ifi47	A	C	11: 48,986,425 (GRCm39)	Q64P	probably damaging	Het
Irx3	G	T	8: 92,527,028 (GRCm39)	S225R	possibly damaging	Het
Itpr1	A	G	6: 108,340,581 (GRCm39)	H289R	probably benign	Het
Lamc3	A	G	2: 31,802,128 (GRCm39)	D512G	probably damaging	Het
Mcm3	C	T	1: 20,886,980 (GRCm39)	V142I	probably benign	Het
Med23	C	A	10: 24,784,632 (GRCm39)	F1200L	probably benign	Het
Ndst4	A	T	3: 125,364,439 (GRCm39)	D372V	possibly damaging	Het
Nob1	T	A	8: 108,148,230 (GRCm39)	K71*	probably null	Het
Ntrk3	A	G	7: 78,005,897 (GRCm39)	I488T	probably benign	Het
Pds5b	G	T	5: 150,643,424 (GRCm39)	C82F	probably damaging	Het
Pkd1l3	T	A	8: 110,360,022 (GRCm39)	V969E	possibly damaging	Het
Ppme1	A	T	7: 99,984,298 (GRCm39)	N307K	probably benign	Het
Pus7l	C	T	15: 94,425,856 (GRCm39)	C515Y	probably benign	Het
Rpp21	T	A	17: 36,568,591 (GRCm39)	H22L	possibly damaging	Het
Scamp3	T	C	3: 89,088,525 (GRCm39)	F244L	probably damaging	Het
Scgb1b7	A	T	7: 31,412,379 (GRCm39)	K52*	probably null	Het
Slc12a3	T	C	8: 95,060,695 (GRCm39)	I261T	probably damaging	Het
Slc19a3	C	T	1: 82,992,533 (GRCm39)	R396H	probably damaging	Het
Slc22a14	T	C	9: 119,009,922 (GRCm39)	I58V	probably benign	Het
Slc9a9	A	C	9: 95,111,092 (GRCm39)	T637P	probably damaging	Het
Snrnp40	T	A	4: 130,278,316 (GRCm39)	C274S	possibly damaging	Het
Sptbn1	A	G	11: 30,088,457 (GRCm39)	V905A	probably damaging	Het
Taok3	A	G	5: 117,404,102 (GRCm39)	D759G	possibly damaging	Het
Tas1r1	T	C	4: 152,117,033 (GRCm39)	I200M	probably benign	Het
Tnfrsf25	T	C	4: 152,204,139 (GRCm39)	V360A	possibly damaging	Het
Trim12a	A	T	7: 103,953,544 (GRCm39)	M189K	possibly damaging	Het
Tspan32	T	C	7: 142,559,695 (GRCm39)	F41L	probably benign	Het
Tube1	T	A	10: 39,021,657 (GRCm39)	S301T	possibly damaging	Het
Usp8	T	C	2: 126,584,578 (GRCm39)	S596P	probably benign	Het
Virma	T	A	4: 11,521,261 (GRCm39)		probably null	Het
Vmn2r58	T	C	7: 41,513,722 (GRCm39)	D307G	probably benign	Het
Zeb2	T	C	2: 44,888,964 (GRCm39)	K327R	probably damaging	Het
Zfp54	C	T	17: 21,654,910 (GRCm39)	T468M	probably benign	Het
Zfp780b	A	T	7: 27,662,551 (GRCm39)	I668N	possibly damaging	Het

Other mutations in Cenpx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4798:Cenpx	UTSW	11	120,602,610 (GRCm39)	unclassified	probably benign
R8990:Cenpx	UTSW	11	120,602,591 (GRCm39)	missense	unknown
R9209:Cenpx	UTSW	11	120,602,582 (GRCm39)	missense	possibly damaging	0.95
R9726:Cenpx	UTSW	11	120,603,328 (GRCm39)	missense	unknown
X0022:Cenpx	UTSW	11	120,603,277 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACCCTGCCCTTGTTAGGTC -3'
(R):5'- TGAGGAATGGCACTGACTCTG -3'

Sequencing Primer
(F):5'- CCCATTGTCAGCCCTCAGAG -3'
(R):5'- ACTGACTCTGCCCTCCTTCTAGG -3'

Posted On

2020-10-20