Mutagenetix > Incidental Mutation

Incidental Mutation 'R7494:Cep295nl'

581002

Institutional Source

Beutler Lab

Gene Symbol

Cep295nl

Ensembl Gene

ENSMUSG00000076433

Gene Name

CEP295 N-terminal like

Synonyms

Ddc8, BC100451

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7494 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118223186-118233326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118224758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 29 (M29L)

Ref Sequence

ENSEMBL: ENSMUSP00000099313 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017610] [ENSMUST00000103024] [ENSMUST00000155707] [ENSMUST00000168100]

AlphaFold

Q497N6

Predicted Effect

probably benign
Transcript: ENSMUST00000017610

SMART Domains

Protein: ENSMUSP00000017610
Gene: ENSMUSG00000017466

Domain	Start	End	E-Value	Type
low complexity region	3	26	N/A	INTRINSIC
NTR	27	203	1.05e-135	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103024
AA Change: M29L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099313
Gene: ENSMUSG00000076433
AA Change: M29L

Domain	Start	End	E-Value	Type
coiled coil region	43	72	N/A	INTRINSIC
low complexity region	105	126	N/A	INTRINSIC
low complexity region	273	282	N/A	INTRINSIC
low complexity region	310	322	N/A	INTRINSIC
low complexity region	451	468	N/A	INTRINSIC
coiled coil region	495	524	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155707

SMART Domains

Protein: ENSMUSP00000122642
Gene: ENSMUSG00000017466

Domain	Start	End	E-Value	Type
NTR	1	126	1.48e-71	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168100
AA Change: M29L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128122
Gene: ENSMUSG00000076433
AA Change: M29L

Domain	Start	End	E-Value	Type
coiled coil region	43	72	N/A	INTRINSIC
low complexity region	105	126	N/A	INTRINSIC
low complexity region	273	282	N/A	INTRINSIC
low complexity region	310	322	N/A	INTRINSIC
low complexity region	451	468	N/A	INTRINSIC
coiled coil region	495	524	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	A	11: 110,099,571 (GRCm39)	T992I	possibly damaging	Het
Adamts10	T	A	17: 33,768,352 (GRCm39)	C841*	probably null	Het
AI661453	C	T	17: 47,779,105 (GRCm39)	P944S	unknown	Het
Als2	G	A	1: 59,222,325 (GRCm39)		probably null	Het
Anapc2	A	G	2: 25,166,376 (GRCm39)	E381G	possibly damaging	Het
Ank3	T	C	10: 69,824,756 (GRCm39)	Y1142H		Het
Apip	A	T	2: 102,922,896 (GRCm39)	N238I	probably benign	Het
Cblc	A	T	7: 19,526,737 (GRCm39)	V165D	possibly damaging	Het
Clec12a	A	G	6: 129,330,362 (GRCm39)	I47V	possibly damaging	Het
Dpp9	T	C	17: 56,507,619 (GRCm39)	Y350C	probably damaging	Het
Enpp2	C	T	15: 54,773,554 (GRCm39)	G56R	probably damaging	Het
Epsti1	G	T	14: 78,166,194 (GRCm39)	E82D	probably benign	Het
Eri2	C	A	7: 119,385,304 (GRCm39)	C399F	probably damaging	Het
Ern1	T	C	11: 106,298,361 (GRCm39)	T672A	probably damaging	Het
Fbxo21	T	A	5: 118,138,388 (GRCm39)	C445S	possibly damaging	Het
Folh1	G	T	7: 86,368,907 (GRCm39)	T740K	probably damaging	Het
Gapt	A	G	13: 110,490,262 (GRCm39)	Y134H	probably damaging	Het
Gm19410	T	C	8: 36,262,684 (GRCm39)	S874P	probably damaging	Het
Gm2431	G	A	7: 141,811,547 (GRCm39)	P119L	unknown	Het
Gzmc	G	A	14: 56,469,785 (GRCm39)	Q172*	probably null	Het
Hoxa1	C	A	6: 52,134,571 (GRCm39)	V211F	probably damaging	Het
Hyou1	G	T	9: 44,300,706 (GRCm39)	R925L	probably benign	Het
Ift70a1	A	C	2: 75,810,242 (GRCm39)	F614V	probably damaging	Het
Ilvbl	A	G	10: 78,414,857 (GRCm39)	Y240C	possibly damaging	Het
Lama1	T	A	17: 68,118,441 (GRCm39)	F2551Y		Het
Lrrtm3	A	G	10: 63,924,958 (GRCm39)	Y70H	probably damaging	Het
Naa38	T	A	11: 69,287,126 (GRCm39)	C69S	probably damaging	Het
Or12e7	T	A	2: 87,287,912 (GRCm39)	N134K	probably damaging	Het
Or2t46	T	C	11: 58,472,038 (GRCm39)	S123P	probably damaging	Het
Or8k25	A	T	2: 86,243,592 (GRCm39)	I268N	probably benign	Het
Panx3	A	G	9: 37,572,608 (GRCm39)	L314P	probably damaging	Het
Polr2f	T	C	15: 79,028,865 (GRCm39)		probably null	Het
Prkcd	C	A	14: 30,331,150 (GRCm39)	R75L	probably benign	Het
Psap	A	C	10: 60,135,275 (GRCm39)	L313F	probably benign	Het
Psen1	T	A	12: 83,775,017 (GRCm39)	C263S	probably benign	Het
Ptma	GGAAGAAG	GGAAGAAGAAG	1: 86,457,261 (GRCm39)		probably benign	Het
Pura	T	A	18: 36,420,942 (GRCm39)	M243K	probably damaging	Het
Sec16b	T	C	1: 157,388,369 (GRCm39)	S579P	probably benign	Het
Septin1	T	A	7: 126,814,122 (GRCm39)	E338V	probably damaging	Het
Sgms1	A	G	19: 32,107,091 (GRCm39)	F255L	probably benign	Het
Slc4a2	A	G	5: 24,637,862 (GRCm39)	T353A	possibly damaging	Het
Smg6	T	C	11: 74,820,449 (GRCm39)	V240A	probably benign	Het
Sntg2	T	G	12: 30,279,633 (GRCm39)	D340A	possibly damaging	Het
Sun1	C	T	5: 139,221,475 (GRCm39)	P553S	probably benign	Het
Tas2r140	T	C	6: 40,468,254 (GRCm39)	V28A	probably damaging	Het
Tfcp2l1	T	C	1: 118,592,686 (GRCm39)	F323S	probably damaging	Het
Thoc2l	T	C	5: 104,666,284 (GRCm39)	Y269H	possibly damaging	Het
Tpcn2	G	A	7: 144,832,586 (GRCm39)	T90I	possibly damaging	Het
Ttn	A	T	2: 76,720,321 (GRCm39)	Y6968*	probably null	Het
Vmn2r44	A	T	7: 8,386,122 (GRCm39)	L39*	probably null	Het

Other mutations in Cep295nl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Cep295nl	APN	11	118,224,730 (GRCm39)	missense	probably damaging	0.96
IGL02883:Cep295nl	APN	11	118,224,735 (GRCm39)	missense	probably benign	0.01
R1724:Cep295nl	UTSW	11	118,223,854 (GRCm39)	missense	probably benign	0.03
R1815:Cep295nl	UTSW	11	118,223,474 (GRCm39)	missense	probably damaging	1.00
R1999:Cep295nl	UTSW	11	118,223,915 (GRCm39)	missense	probably damaging	0.99
R2161:Cep295nl	UTSW	11	118,223,335 (GRCm39)	missense	possibly damaging	0.65
R2198:Cep295nl	UTSW	11	118,223,419 (GRCm39)	missense	probably benign	0.00
R4871:Cep295nl	UTSW	11	118,224,650 (GRCm39)	missense	probably damaging	0.98
R5348:Cep295nl	UTSW	11	118,224,425 (GRCm39)	missense	probably damaging	0.98
R5759:Cep295nl	UTSW	11	118,224,472 (GRCm39)	missense	possibly damaging	0.94
R6379:Cep295nl	UTSW	11	118,224,556 (GRCm39)	missense	probably benign	0.04
R7038:Cep295nl	UTSW	11	118,223,815 (GRCm39)	missense	probably benign	0.27
R7254:Cep295nl	UTSW	11	118,223,866 (GRCm39)	missense	probably damaging	1.00
R7456:Cep295nl	UTSW	11	118,224,376 (GRCm39)	missense	possibly damaging	0.88
R8982:Cep295nl	UTSW	11	118,224,671 (GRCm39)	missense	probably damaging	1.00
R9303:Cep295nl	UTSW	11	118,224,766 (GRCm39)	missense	possibly damaging	0.90
R9305:Cep295nl	UTSW	11	118,224,766 (GRCm39)	missense	possibly damaging	0.90
R9451:Cep295nl	UTSW	11	118,224,446 (GRCm39)	nonsense	probably null
R9617:Cep295nl	UTSW	11	118,224,000 (GRCm39)	missense	possibly damaging	0.65
R9621:Cep295nl	UTSW	11	118,224,766 (GRCm39)	missense	possibly damaging	0.90
Z1176:Cep295nl	UTSW	11	118,224,699 (GRCm39)	missense	probably damaging	1.00
Z1176:Cep295nl	UTSW	11	118,223,845 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- ATGCACGCTGGGATCGTTTC -3'
(R):5'- GTACACCCATGTGCACTTGTC -3'

Sequencing Primer
(F):5'- GGATCGTTTCCCATGCTCCG -3'
(R):5'- CATGTGCACTTGTCTCCAGGG -3'

Posted On

2019-10-17