Mutagenetix > Incidental Mutation

Incidental Mutation 'R8323:Cep295'

643923

Institutional Source

Beutler Lab

Gene Symbol

Cep295

Ensembl Gene

ENSMUSG00000046111

Gene Name

centrosomal protein 295

Synonyms

5830418K08Rik, LOC382128

MMRRC Submission

067724-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R8323 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15228211-15269084 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 15249529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 462 (T462K)

Ref Sequence

ENSEMBL: ENSMUSP00000123788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098979] [ENSMUST00000161132]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000098979
AA Change: T462K

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000096578
Gene: ENSMUSG00000046111
AA Change: T462K

Domain	Start	End	E-Value	Type
low complexity region	159	175	N/A	INTRINSIC
coiled coil region	258	288	N/A	INTRINSIC
coiled coil region	536	583	N/A	INTRINSIC
coiled coil region	861	889	N/A	INTRINSIC
internal_repeat_1	890	1104	6.8e-5	PROSPERO
internal_repeat_1	1277	1489	6.8e-5	PROSPERO
low complexity region	1537	1548	N/A	INTRINSIC
low complexity region	1611	1625	N/A	INTRINSIC
coiled coil region	1707	1736	N/A	INTRINSIC
low complexity region	2003	2018	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160946

SMART Domains

Protein: ENSMUSP00000125494
Gene: ENSMUSG00000046111

Domain	Start	End	E-Value	Type
coiled coil region	92	119	N/A	INTRINSIC
low complexity region	282	293	N/A	INTRINSIC
low complexity region	356	370	N/A	INTRINSIC
coiled coil region	451	480	N/A	INTRINSIC
low complexity region	828	843	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161132
AA Change: T462K

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111
AA Change: T462K

Domain	Start	End	E-Value	Type
low complexity region	111	127	N/A	INTRINSIC
coiled coil region	210	240	N/A	INTRINSIC
coiled coil region	488	535	N/A	INTRINSIC
coiled coil region	813	841	N/A	INTRINSIC
coiled coil region	1300	1327	N/A	INTRINSIC
low complexity region	1489	1500	N/A	INTRINSIC
low complexity region	1563	1577	N/A	INTRINSIC
coiled coil region	1659	1688	N/A	INTRINSIC
low complexity region	2035	2050	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,649,351 (GRCm39)	F6S	probably benign	Het
Braf	T	C	6: 39,620,058 (GRCm39)	T507A	possibly damaging	Het
Catsperb	A	C	12: 101,375,658 (GRCm39)	H24P	probably benign	Het
Ccdc57	G	T	11: 120,788,750 (GRCm39)	Q366K	possibly damaging	Het
Cfap206	C	T	4: 34,719,647 (GRCm39)	E256K	probably benign	Het
Cfap251	A	G	5: 123,435,588 (GRCm39)	N1016S	probably benign	Het
Cldn13	A	G	5: 134,943,828 (GRCm39)	V119A	probably benign	Het
Csmd1	G	T	8: 17,266,751 (GRCm39)	C58*	probably null	Het
Csmd3	T	C	15: 47,561,547 (GRCm39)	Y1343C		Het
Dcbld2	T	A	16: 58,283,473 (GRCm39)		probably null	Het
Dnah14	A	G	1: 181,532,109 (GRCm39)	I2299V	probably benign	Het
Dsp	C	T	13: 38,356,806 (GRCm39)	H229Y	possibly damaging	Het
Fam193b	A	T	13: 55,702,223 (GRCm39)	C51*	probably null	Het
Fbxw10	G	A	11: 62,767,506 (GRCm39)	V781I	probably benign	Het
Fdps	G	T	3: 89,002,696 (GRCm39)	P151T	possibly damaging	Het
Galk2	C	T	2: 125,708,298 (GRCm39)	H16Y	probably benign	Het
Gm1110	A	G	9: 26,813,719 (GRCm39)		probably null	Het
Gm3727	C	T	14: 7,261,693 (GRCm38)	V204I	probably benign	Het
Gtf2h3	A	G	5: 124,720,534 (GRCm39)	I13V	probably benign	Het
H2-T24	T	A	17: 36,328,431 (GRCm39)		probably null	Het
Heatr5a	C	T	12: 52,002,289 (GRCm39)	V216M	probably benign	Het
Hspg2	C	G	4: 137,246,290 (GRCm39)	P1023A	possibly damaging	Het
Igfbp2	C	T	1: 72,888,780 (GRCm39)	P224S	probably damaging	Het
Igkv17-127	A	G	6: 67,838,498 (GRCm39)	I70V	possibly damaging	Het
Kif11	T	A	19: 37,372,692 (GRCm39)	F27I	possibly damaging	Het
Lcor	T	C	19: 41,572,036 (GRCm39)	S264P	probably benign	Het
Lrrc28	G	T	7: 67,245,455 (GRCm39)	T137K	unknown	Het
Lyg1	T	A	1: 37,989,018 (GRCm39)	R67S	probably damaging	Het
Ms4a10	G	A	19: 10,940,363 (GRCm39)	Q255*	probably null	Het
Myo1h	A	G	5: 114,480,200 (GRCm39)	R512G		Het
Nmnat3	T	C	9: 98,292,276 (GRCm39)	Y174H	probably damaging	Het
Nrap	T	C	19: 56,378,255 (GRCm39)	I19V	probably benign	Het
Nsf	C	A	11: 103,819,665 (GRCm39)	V35L	probably benign	Het
Or1e30	A	T	11: 73,677,766 (GRCm39)	M1L	probably damaging	Het
Or2w6	T	A	13: 21,843,302 (GRCm39)	M64L	possibly damaging	Het
Osbpl9	A	G	4: 108,965,119 (GRCm39)	S116P	probably benign	Het
Pcdhb15	A	C	18: 37,608,715 (GRCm39)	E649A	probably benign	Het
Pcdhb8	T	A	18: 37,488,476 (GRCm39)	D51E	probably benign	Het
Plcl1	T	A	1: 55,736,895 (GRCm39)	D745E	possibly damaging	Het
Prss3	A	G	6: 41,351,258 (GRCm39)	L165P	probably damaging	Het
Psme4	T	A	11: 30,793,532 (GRCm39)	I1211N	probably damaging	Het
Rb1	A	G	14: 73,503,023 (GRCm39)	V416A	probably benign	Het
Rnf111	T	A	9: 70,383,204 (GRCm39)	Q243L	probably benign	Het
Sacm1l	T	C	9: 123,377,987 (GRCm39)	V89A	probably benign	Het
Sardh	C	T	2: 27,125,576 (GRCm39)	D313N	probably damaging	Het
Scin	T	C	12: 40,129,681 (GRCm39)	I371V	probably benign	Het
Scn10a	C	A	9: 119,438,462 (GRCm39)	L1801F	possibly damaging	Het
Sele	G	A	1: 163,879,207 (GRCm39)	V281M	possibly damaging	Het
Slc17a1	C	A	13: 24,071,982 (GRCm39)	T400K	probably damaging	Het
Slc22a28	T	A	19: 8,108,788 (GRCm39)	D118V	probably damaging	Het
Slc2a10	T	A	2: 165,356,671 (GRCm39)	F110L	probably benign	Het
Slc51a	A	G	16: 32,295,197 (GRCm39)	S294P	probably damaging	Het
Snapc4	T	C	2: 26,254,711 (GRCm39)	E1271G	probably benign	Het
Spata31	C	A	13: 65,070,065 (GRCm39)	Q738K	possibly damaging	Het
Spdya	A	G	17: 71,895,587 (GRCm39)	D284G	probably benign	Het
Tdrd5	T	C	1: 156,094,832 (GRCm39)	D757G	possibly damaging	Het
Tmem104	T	C	11: 115,134,199 (GRCm39)	F245S	probably damaging	Het
Tmem170	A	T	8: 112,603,153 (GRCm39)	S39T	probably benign	Het
Trim24	G	T	6: 37,892,233 (GRCm39)		probably null	Het
Uap1	A	G	1: 169,978,635 (GRCm39)	V302A	probably damaging	Het
Vmn2r96	A	T	17: 18,803,023 (GRCm39)	Y311F	probably damaging	Het
Wdhd1	A	T	14: 47,512,252 (GRCm39)	D46E	possibly damaging	Het
Zdbf2	G	A	1: 63,342,073 (GRCm39)	V151I	possibly damaging	Het
Zfp747l1	A	T	7: 126,983,621 (GRCm39)	C494S	possibly damaging	Het
Zfp943	A	G	17: 22,211,763 (GRCm39)	Q283R	possibly damaging	Het
Zfp944	A	T	17: 22,558,235 (GRCm39)	D337E	probably benign	Het

Other mutations in Cep295

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Cep295	APN	9	15,237,368 (GRCm39)	splice site	probably null
IGL00769:Cep295	APN	9	15,237,440 (GRCm39)	missense	probably damaging	1.00
IGL00771:Cep295	APN	9	15,233,861 (GRCm39)	missense	probably damaging	1.00
IGL00850:Cep295	APN	9	15,234,148 (GRCm39)	missense	probably benign	0.36
IGL01505:Cep295	APN	9	15,229,345 (GRCm39)	missense	probably benign	0.08
IGL01510:Cep295	APN	9	15,265,922 (GRCm39)	nonsense	probably null
IGL01759:Cep295	APN	9	15,234,855 (GRCm39)	splice site	probably null
IGL02415:Cep295	APN	9	15,264,316 (GRCm39)	missense	probably damaging	1.00
IGL02447:Cep295	APN	9	15,243,807 (GRCm39)	missense	probably damaging	0.98
IGL02502:Cep295	APN	9	15,262,209 (GRCm39)	splice site	probably benign
IGL02665:Cep295	APN	9	15,237,928 (GRCm39)	splice site	probably benign
IGL02718:Cep295	APN	9	15,237,049 (GRCm39)	splice site	probably null
IGL02995:Cep295	APN	9	15,244,608 (GRCm39)	missense	probably damaging	1.00
IGL03024:Cep295	APN	9	15,236,868 (GRCm39)	missense	probably benign
R0196:Cep295	UTSW	9	15,249,509 (GRCm39)	missense	probably damaging	0.96
R0398:Cep295	UTSW	9	15,266,032 (GRCm39)	missense	possibly damaging	0.90
R0595:Cep295	UTSW	9	15,243,487 (GRCm39)	nonsense	probably null
R0610:Cep295	UTSW	9	15,234,050 (GRCm39)	missense	possibly damaging	0.81
R0616:Cep295	UTSW	9	15,243,618 (GRCm39)	nonsense	probably null
R0840:Cep295	UTSW	9	15,245,611 (GRCm39)	missense	probably benign	0.02
R1215:Cep295	UTSW	9	15,239,178 (GRCm39)	missense	probably benign	0.00
R1376:Cep295	UTSW	9	15,252,164 (GRCm39)	splice site	probably benign
R1381:Cep295	UTSW	9	15,233,861 (GRCm39)	missense	probably benign	0.02
R1484:Cep295	UTSW	9	15,246,080 (GRCm39)	missense	probably damaging	0.99
R1557:Cep295	UTSW	9	15,243,306 (GRCm39)	nonsense	probably null
R1655:Cep295	UTSW	9	15,252,179 (GRCm39)	missense	probably damaging	0.99
R1682:Cep295	UTSW	9	15,245,217 (GRCm39)	missense	probably benign	0.02
R1700:Cep295	UTSW	9	15,252,179 (GRCm39)	missense	probably damaging	0.99
R1734:Cep295	UTSW	9	15,252,179 (GRCm39)	missense	probably damaging	0.99
R1736:Cep295	UTSW	9	15,252,179 (GRCm39)	missense	probably damaging	0.99
R1743:Cep295	UTSW	9	15,252,179 (GRCm39)	missense	probably damaging	0.99
R1765:Cep295	UTSW	9	15,239,200 (GRCm39)	missense	probably damaging	1.00
R1889:Cep295	UTSW	9	15,243,399 (GRCm39)	missense	possibly damaging	0.94
R1895:Cep295	UTSW	9	15,243,399 (GRCm39)	missense	possibly damaging	0.94
R1994:Cep295	UTSW	9	15,252,179 (GRCm39)	missense	probably damaging	0.99
R1995:Cep295	UTSW	9	15,252,179 (GRCm39)	missense	probably damaging	0.99
R2071:Cep295	UTSW	9	15,252,860 (GRCm39)	missense	probably damaging	1.00
R2161:Cep295	UTSW	9	15,264,354 (GRCm39)	missense	probably damaging	0.99
R2195:Cep295	UTSW	9	15,243,617 (GRCm39)	missense	probably damaging	0.99
R2354:Cep295	UTSW	9	15,246,080 (GRCm39)	missense	possibly damaging	0.92
R2427:Cep295	UTSW	9	15,245,534 (GRCm39)	missense	probably damaging	1.00
R2992:Cep295	UTSW	9	15,244,043 (GRCm39)	missense	probably damaging	1.00
R3873:Cep295	UTSW	9	15,244,661 (GRCm39)	missense	probably damaging	1.00
R3981:Cep295	UTSW	9	15,228,363 (GRCm39)	utr 3 prime	probably benign
R4201:Cep295	UTSW	9	15,243,834 (GRCm39)	missense	probably benign	0.19
R4297:Cep295	UTSW	9	15,233,950 (GRCm39)	missense	probably benign	0.19
R4543:Cep295	UTSW	9	15,246,549 (GRCm39)	missense	possibly damaging	0.94
R4584:Cep295	UTSW	9	15,246,095 (GRCm39)	missense	possibly damaging	0.96
R4724:Cep295	UTSW	9	15,242,128 (GRCm39)	missense	probably damaging	1.00
R4878:Cep295	UTSW	9	15,246,252 (GRCm39)	missense	probably benign	0.11
R4884:Cep295	UTSW	9	15,263,056 (GRCm39)	missense	probably damaging	1.00
R4934:Cep295	UTSW	9	15,244,456 (GRCm39)	missense	probably damaging	0.97
R4990:Cep295	UTSW	9	15,243,434 (GRCm39)	missense	probably damaging	1.00
R5057:Cep295	UTSW	9	15,233,979 (GRCm39)	missense	probably benign	0.00
R5153:Cep295	UTSW	9	15,268,925 (GRCm39)	missense	probably benign	0.32
R5180:Cep295	UTSW	9	15,243,416 (GRCm39)	missense	probably benign
R5285:Cep295	UTSW	9	15,233,887 (GRCm39)	missense	probably benign	0.14
R5360:Cep295	UTSW	9	15,238,029 (GRCm39)	missense	probably damaging	1.00
R5419:Cep295	UTSW	9	15,235,533 (GRCm39)	missense	probably damaging	0.98
R5432:Cep295	UTSW	9	15,262,991 (GRCm39)	missense	possibly damaging	0.95
R5625:Cep295	UTSW	9	15,252,187 (GRCm39)	missense	probably damaging	0.99
R5637:Cep295	UTSW	9	15,245,108 (GRCm39)	splice site	probably null
R5645:Cep295	UTSW	9	15,246,404 (GRCm39)	missense	possibly damaging	0.89
R5645:Cep295	UTSW	9	15,244,090 (GRCm39)	missense	probably damaging	0.98
R5678:Cep295	UTSW	9	15,234,154 (GRCm39)	missense	probably damaging	0.99
R5688:Cep295	UTSW	9	15,243,282 (GRCm39)	missense	probably damaging	1.00
R5807:Cep295	UTSW	9	15,243,828 (GRCm39)	missense	probably damaging	1.00
R5824:Cep295	UTSW	9	15,236,952 (GRCm39)	missense	possibly damaging	0.90
R5837:Cep295	UTSW	9	15,258,280 (GRCm39)	missense	probably damaging	0.99
R5915:Cep295	UTSW	9	15,252,775 (GRCm39)	missense	probably damaging	1.00
R5988:Cep295	UTSW	9	15,252,770 (GRCm39)	missense	probably damaging	1.00
R6239:Cep295	UTSW	9	15,233,927 (GRCm39)	missense	possibly damaging	0.46
R6332:Cep295	UTSW	9	15,246,210 (GRCm39)	missense	possibly damaging	0.90
R6383:Cep295	UTSW	9	15,244,050 (GRCm39)	missense	probably damaging	0.99
R6737:Cep295	UTSW	9	15,243,647 (GRCm39)	missense	possibly damaging	0.90
R6929:Cep295	UTSW	9	15,244,358 (GRCm39)	missense	probably damaging	1.00
R7428:Cep295	UTSW	9	15,244,794 (GRCm39)	missense	possibly damaging	0.61
R7697:Cep295	UTSW	9	15,266,006 (GRCm39)	missense	probably benign	0.01
R7963:Cep295	UTSW	9	15,244,737 (GRCm39)	missense	possibly damaging	0.90
R8055:Cep295	UTSW	9	15,244,905 (GRCm39)	missense	probably benign	0.00
R8069:Cep295	UTSW	9	15,233,882 (GRCm39)	missense	possibly damaging	0.94
R8092:Cep295	UTSW	9	15,244,278 (GRCm39)	missense	probably benign	0.17
R8117:Cep295	UTSW	9	15,245,660 (GRCm39)	missense	probably damaging	0.99
R8140:Cep295	UTSW	9	15,252,829 (GRCm39)	missense	probably benign	0.00
R8178:Cep295	UTSW	9	15,244,836 (GRCm39)	missense
R8323:Cep295	UTSW	9	15,264,357 (GRCm39)	missense	probably damaging	0.96
R8339:Cep295	UTSW	9	15,236,846 (GRCm39)	missense
R8351:Cep295	UTSW	9	15,234,202 (GRCm39)	missense	probably damaging	0.99
R8367:Cep295	UTSW	9	15,245,826 (GRCm39)	missense	probably benign	0.09
R8725:Cep295	UTSW	9	15,243,715 (GRCm39)	nonsense	probably null
R8919:Cep295	UTSW	9	15,238,007 (GRCm39)	missense	probably damaging	1.00
R9015:Cep295	UTSW	9	15,244,264 (GRCm39)	missense	probably benign	0.00
R9054:Cep295	UTSW	9	15,235,551 (GRCm39)	missense	possibly damaging	0.92
R9088:Cep295	UTSW	9	15,233,815 (GRCm39)	missense	probably benign	0.09
R9159:Cep295	UTSW	9	15,252,904 (GRCm39)	missense	probably benign	0.05
R9243:Cep295	UTSW	9	15,243,605 (GRCm39)	missense	probably benign	0.36
R9408:Cep295	UTSW	9	15,244,619 (GRCm39)	missense	probably benign	0.00
R9424:Cep295	UTSW	9	15,244,499 (GRCm39)	missense	probably damaging	0.98
R9455:Cep295	UTSW	9	15,245,046 (GRCm39)	missense	possibly damaging	0.90
R9607:Cep295	UTSW	9	15,234,009 (GRCm39)	missense	probably damaging	0.98
R9648:Cep295	UTSW	9	15,234,903 (GRCm39)	missense	probably benign	0.00
R9659:Cep295	UTSW	9	15,233,846 (GRCm39)	missense	probably benign	0.19
R9731:Cep295	UTSW	9	15,245,262 (GRCm39)	missense	possibly damaging	0.94
X0065:Cep295	UTSW	9	15,234,187 (GRCm39)	missense	probably benign	0.36
Z1176:Cep295	UTSW	9	15,268,993 (GRCm39)	missense	probably damaging	0.99
Z1177:Cep295	UTSW	9	15,242,113 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GTTAACCATTGAGCCGTTCCTC -3'
(R):5'- CTTGGCAGCAAAGATCCAAC -3'

Sequencing Primer
(F):5'- GAGCCGTTCCTCCAGTCCATG -3'
(R):5'- TTGGCAGCAAAGATCCAACAAATC -3'

Posted On

2020-09-02