Mutagenetix > Incidental Mutation

Incidental Mutation 'R1999:Cep295nl'

224760

Institutional Source

Beutler Lab

Gene Symbol

Cep295nl

Ensembl Gene

ENSMUSG00000076433

Gene Name

CEP295 N-terminal like

Synonyms

Ddc8, BC100451

MMRRC Submission

040009-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1999 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118223186-118233326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118223915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 310 (R310G)

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 damaging
Transcript: ENSMUST00000103024
AA Change: R310G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099313
Gene: ENSMUSG00000076433
AA Change: R310G

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 damaging
Transcript: ENSMUST00000168100
AA Change: R310G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128122
Gene: ENSMUSG00000076433
AA Change: R310G

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	T	A	12: 84,056,527 (GRCm39)	W82R	probably damaging	Het
Adprm	A	G	11: 66,929,055 (GRCm39)	V312A	probably benign	Het
Ambp	C	T	4: 63,067,666 (GRCm39)	M181I	possibly damaging	Het
Anln	A	G	9: 22,244,348 (GRCm39)	*1122Q	probably null	Het
Apc2	C	T	10: 80,144,994 (GRCm39)	T635I	probably damaging	Het
Arhgap32	A	G	9: 32,027,436 (GRCm39)	E2G	possibly damaging	Het
Bltp1	C	T	3: 36,962,360 (GRCm39)	T487I	probably damaging	Het
Ccdc63	C	G	5: 122,265,628 (GRCm39)	A71P	possibly damaging	Het
Ceacam5	A	T	7: 17,481,172 (GRCm39)	K306N	possibly damaging	Het
Ces2h	A	G	8: 105,746,977 (GRCm39)	T538A	probably benign	Het
Dab2	T	C	15: 6,446,398 (GRCm39)	V5A	probably benign	Het
Diaph3	T	A	14: 87,222,302 (GRCm39)	D405V	possibly damaging	Het
Dync1h1	T	C	12: 110,632,857 (GRCm39)		probably null	Het
Epha7	C	T	4: 28,938,686 (GRCm39)	Q514*	probably null	Het
Etfb	C	T	7: 43,103,987 (GRCm39)	L141F	probably benign	Het
Fat1	T	C	8: 45,405,430 (GRCm39)	V727A	probably damaging	Het
Flt4	T	C	11: 49,536,824 (GRCm39)	Y1265H	probably benign	Het
Fndc3c1	C	T	X: 105,464,311 (GRCm39)	E1276K	probably benign	Het
Ghdc	T	C	11: 100,660,018 (GRCm39)	E243G	probably benign	Het
Gpld1	T	C	13: 25,146,630 (GRCm39)	V225A	probably benign	Het
Herc1	A	G	9: 66,393,360 (GRCm39)	T4080A	probably benign	Het
Hoxa3	A	C	6: 52,147,382 (GRCm39)	Y290*	probably null	Het
Htr5a	G	A	5: 28,055,887 (GRCm39)	V293M	possibly damaging	Het
Itgb7	C	T	15: 102,130,553 (GRCm39)	V378M	probably damaging	Het
Kcnq5	T	C	1: 21,472,428 (GRCm39)	S811G	probably null	Het
Kcnt1	T	A	2: 25,782,372 (GRCm39)	H156Q	probably benign	Het
Kif1a	T	C	1: 92,988,517 (GRCm39)	N507S	probably damaging	Het
Krt84	T	C	15: 101,438,019 (GRCm39)	E312G	possibly damaging	Het
Manea	A	G	4: 26,327,871 (GRCm39)	L390P	probably damaging	Het
Mboat2	A	G	12: 24,996,672 (GRCm39)	D225G	possibly damaging	Het
Medag	T	A	5: 149,350,717 (GRCm39)	F64Y	probably damaging	Het
Mtmr6	T	A	14: 60,530,856 (GRCm39)	S331R	probably damaging	Het
Myh1	A	C	11: 67,113,234 (GRCm39)	D1873A	probably benign	Het
Nek9	A	G	12: 85,376,677 (GRCm39)	W235R	probably damaging	Het
Nomo1	T	C	7: 45,706,151 (GRCm39)	S502P	possibly damaging	Het
Or10g6	A	G	9: 39,933,985 (GRCm39)	I99V	probably benign	Het
Or3a1b	A	G	11: 74,012,406 (GRCm39)	Y97C	probably benign	Het
Or8k30	T	A	2: 86,339,089 (GRCm39)	Y95*	probably null	Het
Otof	T	A	5: 30,546,116 (GRCm39)	E427D	probably benign	Het
Pclo	T	C	5: 14,727,094 (GRCm39)		probably benign	Het
Pkhd1l1	T	G	15: 44,363,378 (GRCm39)		probably null	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rad21l	T	C	2: 151,496,621 (GRCm39)		probably null	Het
Rbbp6	T	C	7: 122,589,575 (GRCm39)	V459A	probably damaging	Het
Rsbn1l	G	A	5: 21,107,368 (GRCm39)	H549Y	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Senp1	C	T	15: 97,956,196 (GRCm39)	V408I	possibly damaging	Het
Slc44a5	T	C	3: 153,964,130 (GRCm39)	F499L	possibly damaging	Het
Slitrk3	C	T	3: 72,957,297 (GRCm39)	V492I	probably benign	Het
Spef2	T	A	15: 9,668,989 (GRCm39)		probably null	Het
Ssc5d	A	T	7: 4,945,713 (GRCm39)	D915V	possibly damaging	Het
Stard9	A	G	2: 120,523,349 (GRCm39)	D668G	probably damaging	Het
Sycp2l	A	G	13: 41,271,780 (GRCm39)	D73G	probably benign	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tmem8b	G	A	4: 43,681,300 (GRCm39)	C439Y	probably damaging	Het
Vmn1r195	C	G	13: 22,462,934 (GRCm39)	L135V	possibly damaging	Het
Vmn1r74	G	T	7: 11,581,302 (GRCm39)	V201F	probably damaging	Het
Vmn2r-ps158	A	T	7: 42,696,883 (GRCm39)	I647F	probably damaging	Het
Zfp956	G	A	6: 47,940,805 (GRCm39)	R388H	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
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
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'- CTGACTCTGGGCTTAGTGAGAG -3'
(R):5'- GTACAACAAGAATCTGTGGCAC -3'

Sequencing Primer
(F):5'- TAGATGTCCCTGCCTTGACAGG -3'
(R):5'- TGTGGCACAAAGAAATCGAATCTAC -3'

Posted On

2014-08-25