Mutagenetix > Incidental Mutation

Incidental Mutation 'R5837:Cep295'

449654

Institutional Source

Beutler Lab

Gene Symbol

Cep295

Ensembl Gene

ENSMUSG00000046111

Gene Name

centrosomal protein 295

Synonyms

5830418K08Rik, LOC382128

MMRRC Submission

044057-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R5837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15228211-15269084 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15258280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 241 (H241L)

Ref Sequence

ENSEMBL: ENSMUSP00000096578 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000098979
AA Change: H241L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096578
Gene: ENSMUSG00000046111
AA Change: H241L

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

noncoding transcript
Transcript: ENSMUST00000160692

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161132
AA Change: H241L

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111
AA Change: H241L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161795
AA Change: H193L

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125035
Gene: ENSMUSG00000046111
AA Change: H193L

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
internal_repeat_1	842	1056	7.14e-5	PROSPERO
internal_repeat_1	1229	1441	7.14e-5	PROSPERO
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	1955	1970	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163010

Meta Mutation Damage Score

0.5457

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,323,371 (GRCm39)	R113Q	probably benign	Het
Ank1	A	G	8: 23,594,806 (GRCm39)	N605D	probably damaging	Het
Apob	A	G	12: 8,053,277 (GRCm39)	M1240V	probably benign	Het
Atf1	T	A	15: 100,152,265 (GRCm39)	I86N	probably damaging	Het
Best1	T	A	19: 9,966,483 (GRCm39)		probably null	Het
Bet1l	C	A	7: 140,434,694 (GRCm39)	R51L	probably benign	Het
Bpifa5	A	G	2: 154,005,598 (GRCm39)	Y60C	probably damaging	Het
Ccdc141	G	T	2: 76,938,781 (GRCm39)	Q275K	possibly damaging	Het
Commd7	A	G	2: 153,471,144 (GRCm39)	V36A	possibly damaging	Het
Cyld	G	A	8: 89,468,032 (GRCm39)	S555N	probably damaging	Het
Cyp2j13	A	T	4: 95,959,919 (GRCm39)	I79N	probably damaging	Het
Dact2	A	G	17: 14,416,515 (GRCm39)	S562P	probably damaging	Het
Dnajc13	T	A	9: 104,053,865 (GRCm39)	I1664F	possibly damaging	Het
Ehmt1	A	G	2: 24,753,926 (GRCm39)	V277A	probably damaging	Het
Fbn1	A	T	2: 125,221,054 (GRCm39)		probably null	Het
Galnt6	G	A	15: 100,592,527 (GRCm39)	T560M	possibly damaging	Het
Glra1	G	T	11: 55,427,333 (GRCm39)		probably null	Het
Gm10762	C	T	2: 128,809,077 (GRCm39)		probably benign	Het
Greb1	C	T	12: 16,738,586 (GRCm39)	R1459H	probably damaging	Het
Ift140	A	G	17: 25,308,514 (GRCm39)	K1048E	probably damaging	Het
Ilk	T	C	7: 105,390,378 (GRCm39)		probably null	Het
Lgi4	C	T	7: 30,770,208 (GRCm39)		probably benign	Het
Loxhd1	A	G	18: 77,374,105 (GRCm39)	T59A	possibly damaging	Het
Lzic	G	T	4: 149,570,457 (GRCm39)		probably null	Het
Mef2d	A	G	3: 88,069,088 (GRCm39)	T286A	probably benign	Het
Mycbp2	C	A	14: 103,361,839 (GRCm39)	C4447F	probably damaging	Het
Ncoa2	A	G	1: 13,294,930 (GRCm39)		probably benign	Het
Nolc1	T	C	19: 46,071,622 (GRCm39)		probably benign	Het
Npl	T	C	1: 153,379,271 (GRCm39)	T271A	probably benign	Het
Nudt1	A	G	5: 140,320,295 (GRCm39)	R25G	probably damaging	Het
Nudt19	T	C	7: 35,251,061 (GRCm39)	E226G	possibly damaging	Het
Oc90	T	C	15: 65,748,295 (GRCm39)	D405G	probably benign	Het
Or10q1b	T	A	19: 13,682,324 (GRCm39)	C44*	probably null	Het
Or1e1c	A	G	11: 73,266,474 (GRCm39)	M300V	probably benign	Het
Or5as1	A	T	2: 86,980,699 (GRCm39)	F102Y	probably benign	Het
Or9k2b	A	T	10: 130,016,266 (GRCm39)	L161H	probably damaging	Het
Pcdhb1	T	C	18: 37,398,880 (GRCm39)	I277T	possibly damaging	Het
Pcdhb9	C	A	18: 37,535,851 (GRCm39)	A615E	probably damaging	Het
Phrf1	C	G	7: 140,839,974 (GRCm39)	D1056E	probably benign	Het
Phyhip	C	A	14: 70,704,450 (GRCm39)	A223E	probably damaging	Het
Polr2h	T	A	16: 20,536,682 (GRCm39)	I4N	probably damaging	Het
Ppp1r12c	C	A	7: 4,500,403 (GRCm39)		probably benign	Het
Pramel11	A	G	4: 143,623,490 (GRCm39)	V228A	probably benign	Het
Psg17	T	A	7: 18,554,140 (GRCm39)	T37S	possibly damaging	Het
Ptprz1	T	C	6: 23,001,417 (GRCm39)	V1169A	probably benign	Het
Rabgap1l	T	C	1: 160,134,792 (GRCm39)		probably benign	Het
Rapgef3	C	T	15: 97,655,223 (GRCm39)		probably benign	Het
Rbp3	C	A	14: 33,676,230 (GRCm39)	H59Q	probably benign	Het
Robo3	T	A	9: 37,341,112 (GRCm39)		probably null	Het
Slco4c1	C	T	1: 96,746,707 (GRCm39)	E712K	probably benign	Het
Ssh3	T	C	19: 4,316,428 (GRCm39)	T168A	probably benign	Het
Stoml2	G	T	4: 43,028,989 (GRCm39)	N248K	probably damaging	Het
Tmigd1	A	G	11: 76,806,911 (GRCm39)		probably benign	Het
Tnc	T	A	4: 63,931,451 (GRCm39)	D753V	probably damaging	Het
Tnik	A	T	3: 28,722,202 (GRCm39)		probably benign	Het
Treml1	A	G	17: 48,667,180 (GRCm39)	S22G	possibly damaging	Het
Trmt2a	C	T	16: 18,067,326 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,547,718 (GRCm39)	T32151A	probably damaging	Het
Utp25	A	T	1: 192,800,701 (GRCm39)	F373Y	probably damaging	Het
Vmn1r67	T	C	7: 10,180,949 (GRCm39)	I10T	probably benign	Het
Vmn2r116	T	C	17: 23,606,054 (GRCm39)	F322S	probably damaging	Het
Wdr19	A	G	5: 65,360,300 (GRCm39)	D35G	probably benign	Het
Zfp365	A	T	10: 67,724,870 (GRCm39)	H339Q	probably damaging	Het
Zfp677	A	T	17: 21,617,648 (GRCm39)	H235L	probably damaging	Het
Zpbp2	G	A	11: 98,442,097 (GRCm39)		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
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
R8323:Cep295	UTSW	9	15,249,529 (GRCm39)	missense	possibly damaging	0.53
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'- GTCACATATAGTCGTGGATTTCTTCC -3'
(R):5'- GGAGATCTGTGCAAACTGGC -3'

Sequencing Primer
(F):5'- CAAAGCACATTTAGAAGGCTTTG -3'
(R):5'- TGTAATCCCGGCACTCAGGAG -3'

Posted On

2016-12-20