Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02883:Cep295nl'

362887

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02883

Quality Score

Status

Chromosome

Chromosomal Location

118223186-118233326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118224735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 36 (S36R)

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: S36R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000099313
Gene: ENSMUSG00000076433
AA Change: S36R

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: S36R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000128122
Gene: ENSMUSG00000076433
AA Change: S36R

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,766,972 (GRCm39)	S186R	possibly damaging	Het
Acap2	A	G	16: 30,915,163 (GRCm39)		probably benign	Het
Cacna1h	G	T	17: 25,599,506 (GRCm39)	R1726S	probably damaging	Het
Cdca2	T	C	14: 67,944,946 (GRCm39)	S133G	probably damaging	Het
Crispld1	A	G	1: 17,817,013 (GRCm39)	N190S	possibly damaging	Het
Crtam	A	G	9: 40,905,797 (GRCm39)	V44A	probably benign	Het
Crtc1	C	T	8: 70,858,775 (GRCm39)	G112S	probably benign	Het
Cyp17a1	T	C	19: 46,657,790 (GRCm39)	N254S	probably benign	Het
Dmrta1	T	C	4: 89,577,011 (GRCm39)	S156P	probably benign	Het
Eno2	A	C	6: 124,743,172 (GRCm39)	V188G	probably damaging	Het
Fam20a	A	T	11: 109,565,953 (GRCm39)	I427N	probably damaging	Het
Fat2	T	C	11: 55,147,444 (GRCm39)	K3933E	probably benign	Het
Igkv8-30	T	C	6: 70,094,601 (GRCm39)	M1V	probably null	Het
Ist1	G	A	8: 110,410,300 (GRCm39)		probably benign	Het
Kank4	T	C	4: 98,661,690 (GRCm39)	E765G	possibly damaging	Het
Kat14	T	C	2: 144,235,449 (GRCm39)	L92S	probably damaging	Het
Kcnu1	G	A	8: 26,339,855 (GRCm39)	V58I	probably benign	Het
Lrba	T	A	3: 86,261,513 (GRCm39)	V1489E	probably damaging	Het
Lrba	T	A	3: 86,352,720 (GRCm39)	I1956N	probably damaging	Het
Mdn1	G	A	4: 32,763,199 (GRCm39)	V5100I	probably benign	Het
Mkrn2os	C	A	6: 115,563,670 (GRCm39)	G122*	probably null	Het
Nme3	T	C	17: 25,115,880 (GRCm39)	Y78H	probably benign	Het
Pira13	A	G	7: 3,825,179 (GRCm39)	S488P	possibly damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Ppp2r5c	T	G	12: 110,488,997 (GRCm39)	V56G	possibly damaging	Het
Pramel16	T	C	4: 143,676,418 (GRCm39)	T229A	possibly damaging	Het
Prdm10	G	A	9: 31,238,644 (GRCm39)	V179M	probably damaging	Het
Rab11fip2	A	G	19: 59,895,430 (GRCm39)	V344A	probably damaging	Het
Selp	G	A	1: 163,957,671 (GRCm39)	A267T	probably benign	Het
Sf3a1	T	A	11: 4,129,192 (GRCm39)	W718R	probably damaging	Het
Taar9	T	C	10: 23,985,378 (GRCm39)	N19D	probably benign	Het
Tas2r113	T	G	6: 132,870,382 (GRCm39)	S137A	probably damaging	Het
Traf4	A	T	11: 78,052,447 (GRCm39)	I66N	possibly damaging	Het
Ucp3	A	T	7: 100,129,849 (GRCm39)	T164S	probably benign	Het
Uggt1	A	T	1: 36,216,696 (GRCm39)	N96K	probably benign	Het
Uqcc1	T	A	2: 155,753,749 (GRCm39)	Q42L	possibly damaging	Het
Vmn1r128	A	G	7: 21,083,440 (GRCm39)	K48R	probably benign	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
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
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

Posted On

2015-12-18