Mutagenetix > Incidental Mutation

Incidental Mutation 'R1724:Cep295nl'

191687

Institutional Source

Beutler Lab

Gene Symbol

Cep295nl

Ensembl Gene

ENSMUSG00000076433

Gene Name

CEP295 N-terminal like

Synonyms

Ddc8, BC100451

MMRRC Submission

039756-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1724 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118223186-118233326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118223854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 330 (E330V)

Ref Sequence

ENSEMBL: ENSMUSP00000128122 (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: E330V

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099313
Gene: ENSMUSG00000076433
AA Change: E330V

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: E330V

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000128122
Gene: ENSMUSG00000076433
AA Change: E330V

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

Meta Mutation Damage Score

0.0857

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 93.0%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	T	C	2: 26,881,306 (GRCm39)	V761A	probably benign	Het
Arap1	G	T	7: 101,049,733 (GRCm39)	A1032S	possibly damaging	Het
Atg4d	C	T	9: 21,179,741 (GRCm39)	H230Y	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bcdin3d	T	A	15: 99,368,561 (GRCm39)	K213*	probably null	Het
Col10a1	A	G	10: 34,271,714 (GRCm39)	Y562C	probably damaging	Het
Col9a2	G	A	4: 120,911,099 (GRCm39)	R578Q	probably damaging	Het
Creld1	A	G	6: 113,461,535 (GRCm39)	D85G	possibly damaging	Het
Cth	A	T	3: 157,619,364 (GRCm39)	V153D	probably damaging	Het
Dazap2	T	A	15: 100,515,884 (GRCm39)	Y71N	probably damaging	Het
Ddah1	A	C	3: 145,597,261 (GRCm39)	D269A	probably damaging	Het
Dhx9	A	C	1: 153,334,234 (GRCm39)	D975E	probably benign	Het
Erich3	T	A	3: 154,467,964 (GRCm39)	D805E	possibly damaging	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Gabpb2	T	C	3: 95,113,826 (GRCm39)	D19G	probably damaging	Het
Gabrr1	T	A	4: 33,161,651 (GRCm39)	M325K	probably damaging	Het
Galntl5	T	G	5: 25,425,120 (GRCm39)	N379K	possibly damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm42791	C	A	5: 148,896,311 (GRCm39)		probably benign	Het
Gm5356	G	A	8: 89,913,684 (GRCm39)		noncoding transcript	Het
Kifap3	C	T	1: 163,610,666 (GRCm39)	R49*	probably null	Het
Kmt2c	C	T	5: 25,520,003 (GRCm39)	G2036R	probably damaging	Het
Lce1l	A	T	3: 92,757,726 (GRCm39)	V44E	unknown	Het
Lmbr1	T	A	5: 29,566,081 (GRCm39)	E48D	probably benign	Het
Nes	C	A	3: 87,884,748 (GRCm39)	N958K	probably benign	Het
Nwd1	A	C	8: 73,438,248 (GRCm39)	H1432P	probably damaging	Het
Or2d2b	G	A	7: 106,705,409 (GRCm39)	H220Y	probably benign	Het
Or52h9	T	C	7: 104,202,435 (GRCm39)	F103S	probably damaging	Het
Osgepl1	A	G	1: 53,357,062 (GRCm39)	T75A	probably benign	Het
Perm1	T	C	4: 156,302,529 (GRCm39)	S358P	possibly damaging	Het
Pramel14	C	T	4: 143,720,002 (GRCm39)	G121D	probably benign	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Sdc4	G	T	2: 164,273,206 (GRCm39)	Q35K	probably benign	Het
Secisbp2	A	G	13: 51,824,882 (GRCm39)	S377G	probably benign	Het
Spag16	G	C	1: 70,532,941 (GRCm39)	G540A	probably damaging	Het
Sun1	T	A	5: 139,221,480 (GRCm39)	D517E	probably benign	Het
Taf3	A	G	2: 9,957,177 (GRCm39)	V177A	probably benign	Het
Thbs2	A	G	17: 14,906,162 (GRCm39)	L246P	possibly damaging	Het
Tle7	C	A	8: 110,836,795 (GRCm39)	T227N	probably damaging	Het
Trpm1	G	T	7: 63,885,569 (GRCm39)	G862*	probably null	Het
Trpm8	A	T	1: 88,278,578 (GRCm39)	T584S	possibly damaging	Het
Ythdc2	T	C	18: 44,961,757 (GRCm39)	S2P	probably benign	Het
Zc2hc1c	G	T	12: 85,336,586 (GRCm39)	R81L	probably benign	Het
Zfp292	C	A	4: 34,811,237 (GRCm39)	L602F	probably damaging	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
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
R7494:Cep295nl	UTSW	11	118,224,758 (GRCm39)	missense	probably benign
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'- AGGGCACAGATCCCAGTGGAATTAG -3'
(R):5'- TTGCACCTGGAACAGAGGCTCAAG -3'

Sequencing Primer
(F):5'- GTGTTCTGTCAGCTCCAAAAG -3'
(R):5'- CAGAGGCTCAAGGCAGACC -3'

Posted On

2014-05-14