Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01738:Cep128'

105766

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep128

Ensembl Gene

ENSMUSG00000061533

Gene Name

centrosomal protein 128

Synonyms

4930534B04Rik, 5430424K18Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

IGL01738

Quality Score

Status

Chromosome

Chromosomal Location

90998492-91384409 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 91230842 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 402 (G402C)

Ref Sequence

ENSEMBL: ENSMUSP00000122627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000140674] [ENSMUST00000141429] [ENSMUST00000143415]

Predicted Effect

probably damaging
Transcript: ENSMUST00000140674
AA Change: G85C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119394
Gene: ENSMUSG00000061533
AA Change: G85C

Domain	Start	End	E-Value	Type
low complexity region	112	119	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000141429
AA Change: G855C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115679
Gene: ENSMUSG00000061533
AA Change: G855C

Domain	Start	End	E-Value	Type
low complexity region	89	110	N/A	INTRINSIC
coiled coil region	216	329	N/A	INTRINSIC
low complexity region	340	352	N/A	INTRINSIC
coiled coil region	377	822	N/A	INTRINSIC
coiled coil region	876	960	N/A	INTRINSIC
low complexity region	1091	1102	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000143415
AA Change: G402C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122627
Gene: ENSMUSG00000061533
AA Change: G402C

Domain	Start	End	E-Value	Type
coiled coil region	2	369	N/A	INTRINSIC
coiled coil region	423	507	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	T	8: 105,710,036	D288V	probably damaging	Het
Agtr1a	G	A	13: 30,381,038	V29I	probably benign	Het
Akap6	G	T	12: 52,886,817	C364F	probably damaging	Het
Calcrl	T	G	2: 84,370,449	M84L	probably benign	Het
Cfap43	A	G	19: 47,797,185	L422P	probably damaging	Het
Cnbd2	C	A	2: 156,375,617		probably benign	Het
Col27a1	A	G	4: 63,263,779		probably benign	Het
Cyp3a44	A	G	5: 145,794,935	S134P	probably damaging	Het
Dync2h1	A	C	9: 7,114,922	L179R	possibly damaging	Het
Ell	T	A	8: 70,581,681		probably null	Het
Gfm1	A	G	3: 67,456,661	E490G	probably benign	Het
Glt1d1	T	G	5: 127,632,355		probably benign	Het
Gm10267	A	T	18: 44,159,275	I10K	possibly damaging	Het
Htra4	A	G	8: 25,025,711	V437A	probably damaging	Het
Ighv1-69	T	C	12: 115,623,441	Q24R	possibly damaging	Het
Igkv14-111	G	A	6: 68,256,459		probably benign	Het
Ipcef1	A	T	10: 6,890,575	I374N	probably damaging	Het
Iqgap1	T	C	7: 80,723,900	D1447G	possibly damaging	Het
Mast4	A	G	13: 102,737,241	F1681S	probably damaging	Het
Mmp3	A	T	9: 7,446,946	N42I	possibly damaging	Het
Mybpc1	G	T	10: 88,570,645	F126L	probably damaging	Het
Myo1e	A	G	9: 70,359,370	K631E	probably damaging	Het
Olfr902	A	C	9: 38,449,646	Y258S	probably damaging	Het
Pcsk5	T	A	19: 17,433,780		probably benign	Het
Serpina3b	T	G	12: 104,130,832	L124R	probably damaging	Het
Srgap2	T	C	1: 131,296,426	I95V	probably benign	Het
Sstr5	A	T	17: 25,491,610	I215N	probably damaging	Het
Top3b	G	A	16: 16,880,604	V104M	probably benign	Het
Tspan8	G	A	10: 115,817,665		probably null	Het
Vmn2r102	A	G	17: 19,677,758	Y345C	probably damaging	Het
Vmn2r17	G	A	5: 109,429,498	G472S	probably damaging	Het
Zmpste24	A	T	4: 121,061,111	L438Q	probably damaging	Het

Other mutations in Cep128

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Cep128	APN	12	91234191	missense	probably benign	0.17
IGL00800:Cep128	APN	12	91255664	missense	possibly damaging	0.83
IGL01844:Cep128	APN	12	91008854	missense	probably benign	0.14
IGL01918:Cep128	APN	12	91234210	missense	probably damaging	0.99
IGL02043:Cep128	APN	12	91266730	splice site	probably benign
IGL02405:Cep128	APN	12	91266986	missense	probably benign	0.04
IGL02616:Cep128	APN	12	91296258	missense	probably benign	0.03
PIT4260001:Cep128	UTSW	12	91299034	missense	probably benign	0.00
R0416:Cep128	UTSW	12	91230867	splice site	probably benign
R0442:Cep128	UTSW	12	91266771	missense	probably damaging	1.00
R0608:Cep128	UTSW	12	90999535	utr 3 prime	probably benign
R1108:Cep128	UTSW	12	91339109	missense	probably damaging	1.00
R1178:Cep128	UTSW	12	91260155	missense	probably damaging	1.00
R1183:Cep128	UTSW	12	91325598	missense	possibly damaging	0.84
R1394:Cep128	UTSW	12	91266980	missense	probably benign	0.07
R1395:Cep128	UTSW	12	91266980	missense	probably benign	0.07
R1498:Cep128	UTSW	12	91366417	missense	probably benign
R1541:Cep128	UTSW	12	91348781	missense	probably damaging	1.00
R1639:Cep128	UTSW	12	91366368	missense	probably damaging	1.00
R1643:Cep128	UTSW	12	91325532	missense	probably damaging	1.00
R1682:Cep128	UTSW	12	91230822	missense	probably damaging	0.99
R1739:Cep128	UTSW	12	91022491	splice site	probably null
R1758:Cep128	UTSW	12	91347578	missense	probably benign	0.02
R1845:Cep128	UTSW	12	91289598	missense	probably benign	0.01
R1987:Cep128	UTSW	12	91230829	missense	probably benign	0.01
R2017:Cep128	UTSW	12	91366464	missense	probably damaging	0.98
R2237:Cep128	UTSW	12	91347567	missense	probably benign	0.01
R2239:Cep128	UTSW	12	91347567	missense	probably benign	0.01
R3103:Cep128	UTSW	12	91019344	missense	probably damaging	0.99
R4552:Cep128	UTSW	12	91294162	missense	probably damaging	0.98
R4664:Cep128	UTSW	12	91296253	missense	probably damaging	1.00
R4774:Cep128	UTSW	12	91234195	missense	probably damaging	0.99
R4838:Cep128	UTSW	12	90999545	utr 3 prime	probably benign
R4858:Cep128	UTSW	12	91260162	missense	probably benign	0.04
R4924:Cep128	UTSW	12	91022400	splice site	silent
R5002:Cep128	UTSW	12	91255723	splice site	probably null
R5282:Cep128	UTSW	12	91339119	missense	probably damaging	1.00
R5386:Cep128	UTSW	12	90999571	missense	probably benign	0.03
R5476:Cep128	UTSW	12	91213618	missense	probably damaging	0.96
R5643:Cep128	UTSW	12	91348851	missense	probably damaging	1.00
R5644:Cep128	UTSW	12	91348851	missense	probably damaging	1.00
R5668:Cep128	UTSW	12	90999636	missense	probably benign	0.01
R6057:Cep128	UTSW	12	91296224	missense	possibly damaging	0.92
R6831:Cep128	UTSW	12	91266974	missense	probably damaging	0.99
R6852:Cep128	UTSW	12	91366342	critical splice donor site	probably null
R7078:Cep128	UTSW	12	91234104	missense	probably damaging	0.99
R7144:Cep128	UTSW	12	91294159	missense	probably damaging	0.98
R7487:Cep128	UTSW	12	90999630	missense	probably benign	0.05
R7582:Cep128	UTSW	12	91347566	missense	probably damaging	0.96
R7713:Cep128	UTSW	12	91019322	missense	probably benign	0.07
R8245:Cep128	UTSW	12	90999645	missense	probably benign	0.03
Z1177:Cep128	UTSW	12	91289603	missense	probably benign	0.02
Z1177:Cep128	UTSW	12	91364371	missense	probably damaging	1.00

Posted On

2014-01-21