Mutagenetix > Incidental Mutation

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

5430424K18Rik, 4930534B04Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

IGL01738

Quality Score

Status

Chromosome

Chromosomal Location

90965266-91351183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 91197616 bp (GRCm39)

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]

AlphaFold

Q8BI22

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: 106,436,668 (GRCm39)	D288V	probably damaging	Het
Agtr1a	G	A	13: 30,565,021 (GRCm39)	V29I	probably benign	Het
Akap6	G	T	12: 52,933,600 (GRCm39)	C364F	probably damaging	Het
Calcrl	T	G	2: 84,200,793 (GRCm39)	M84L	probably benign	Het
Cfap43	A	G	19: 47,785,624 (GRCm39)	L422P	probably damaging	Het
Cnbd2	C	A	2: 156,217,537 (GRCm39)		probably benign	Het
Col27a1	A	G	4: 63,182,016 (GRCm39)		probably benign	Het
Cyp3a44	A	G	5: 145,731,745 (GRCm39)	S134P	probably damaging	Het
Dync2h1	A	C	9: 7,114,922 (GRCm39)	L179R	possibly damaging	Het
Ell	T	A	8: 71,034,331 (GRCm39)		probably benign	Het
Gfm1	A	G	3: 67,363,994 (GRCm39)	E490G	probably benign	Het
Glt1d1	T	G	5: 127,709,419 (GRCm39)		probably benign	Het
Gm10267	A	T	18: 44,292,342 (GRCm39)	I10K	possibly damaging	Het
Htra4	A	G	8: 25,515,727 (GRCm39)	V437A	probably damaging	Het
Ighv1-69	T	C	12: 115,587,061 (GRCm39)	Q24R	possibly damaging	Het
Igkv14-111	G	A	6: 68,233,443 (GRCm39)		probably benign	Het
Ipcef1	A	T	10: 6,840,575 (GRCm39)	I374N	probably damaging	Het
Iqgap1	T	C	7: 80,373,648 (GRCm39)	D1447G	possibly damaging	Het
Mast4	A	G	13: 102,873,749 (GRCm39)	F1681S	probably damaging	Het
Mmp3	A	T	9: 7,446,946 (GRCm39)	N42I	possibly damaging	Het
Mybpc1	G	T	10: 88,406,507 (GRCm39)	F126L	probably damaging	Het
Myo1e	A	G	9: 70,266,652 (GRCm39)	K631E	probably damaging	Het
Or8b43	A	C	9: 38,360,942 (GRCm39)	Y258S	probably damaging	Het
Pcsk5	T	A	19: 17,411,144 (GRCm39)		probably benign	Het
Serpina3b	T	G	12: 104,097,091 (GRCm39)	L124R	probably damaging	Het
Srgap2	T	C	1: 131,224,164 (GRCm39)	I95V	probably benign	Het
Sstr5	A	T	17: 25,710,584 (GRCm39)	I215N	probably damaging	Het
Top3b	G	A	16: 16,698,468 (GRCm39)	V104M	probably benign	Het
Tspan8	G	A	10: 115,653,570 (GRCm39)		probably null	Het
Vmn2r102	A	G	17: 19,898,020 (GRCm39)	Y345C	probably damaging	Het
Vmn2r17	G	A	5: 109,577,364 (GRCm39)	G472S	probably damaging	Het
Zmpste24	A	T	4: 120,918,308 (GRCm39)	L438Q	probably damaging	Het

Other mutations in Cep128

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Cep128	APN	12	91,200,965 (GRCm39)	missense	probably benign	0.17
IGL00800:Cep128	APN	12	91,222,438 (GRCm39)	missense	possibly damaging	0.83
IGL01844:Cep128	APN	12	90,975,628 (GRCm39)	missense	probably benign	0.14
IGL01918:Cep128	APN	12	91,200,984 (GRCm39)	missense	probably damaging	0.99
IGL02043:Cep128	APN	12	91,233,504 (GRCm39)	splice site	probably benign
IGL02405:Cep128	APN	12	91,233,760 (GRCm39)	missense	probably benign	0.04
IGL02616:Cep128	APN	12	91,263,032 (GRCm39)	missense	probably benign	0.03
PIT4260001:Cep128	UTSW	12	91,265,808 (GRCm39)	missense	probably benign	0.00
R0416:Cep128	UTSW	12	91,197,641 (GRCm39)	splice site	probably benign
R0442:Cep128	UTSW	12	91,233,545 (GRCm39)	missense	probably damaging	1.00
R0608:Cep128	UTSW	12	90,966,309 (GRCm39)	utr 3 prime	probably benign
R1108:Cep128	UTSW	12	91,305,883 (GRCm39)	missense	probably damaging	1.00
R1178:Cep128	UTSW	12	91,226,929 (GRCm39)	missense	probably damaging	1.00
R1183:Cep128	UTSW	12	91,292,372 (GRCm39)	missense	possibly damaging	0.84
R1394:Cep128	UTSW	12	91,233,754 (GRCm39)	missense	probably benign	0.07
R1395:Cep128	UTSW	12	91,233,754 (GRCm39)	missense	probably benign	0.07
R1498:Cep128	UTSW	12	91,333,191 (GRCm39)	missense	probably benign
R1541:Cep128	UTSW	12	91,315,555 (GRCm39)	missense	probably damaging	1.00
R1639:Cep128	UTSW	12	91,333,142 (GRCm39)	missense	probably damaging	1.00
R1643:Cep128	UTSW	12	91,292,306 (GRCm39)	missense	probably damaging	1.00
R1682:Cep128	UTSW	12	91,197,596 (GRCm39)	missense	probably damaging	0.99
R1739:Cep128	UTSW	12	90,989,265 (GRCm39)	splice site	probably null
R1758:Cep128	UTSW	12	91,314,352 (GRCm39)	missense	probably benign	0.02
R1845:Cep128	UTSW	12	91,256,372 (GRCm39)	missense	probably benign	0.01
R1987:Cep128	UTSW	12	91,197,603 (GRCm39)	missense	probably benign	0.01
R2017:Cep128	UTSW	12	91,333,238 (GRCm39)	missense	probably damaging	0.98
R2237:Cep128	UTSW	12	91,314,341 (GRCm39)	missense	probably benign	0.01
R2239:Cep128	UTSW	12	91,314,341 (GRCm39)	missense	probably benign	0.01
R3103:Cep128	UTSW	12	90,986,118 (GRCm39)	missense	probably damaging	0.99
R4552:Cep128	UTSW	12	91,260,936 (GRCm39)	missense	probably damaging	0.98
R4664:Cep128	UTSW	12	91,263,027 (GRCm39)	missense	probably damaging	1.00
R4774:Cep128	UTSW	12	91,200,969 (GRCm39)	missense	probably damaging	0.99
R4838:Cep128	UTSW	12	90,966,319 (GRCm39)	utr 3 prime	probably benign
R4858:Cep128	UTSW	12	91,226,936 (GRCm39)	missense	probably benign	0.04
R4924:Cep128	UTSW	12	90,989,174 (GRCm39)	splice site	silent
R5002:Cep128	UTSW	12	91,222,497 (GRCm39)	splice site	probably null
R5282:Cep128	UTSW	12	91,305,893 (GRCm39)	missense	probably damaging	1.00
R5386:Cep128	UTSW	12	90,966,345 (GRCm39)	missense	probably benign	0.03
R5476:Cep128	UTSW	12	91,180,392 (GRCm39)	missense	probably damaging	0.96
R5643:Cep128	UTSW	12	91,315,625 (GRCm39)	missense	probably damaging	1.00
R5644:Cep128	UTSW	12	91,315,625 (GRCm39)	missense	probably damaging	1.00
R5668:Cep128	UTSW	12	90,966,410 (GRCm39)	missense	probably benign	0.01
R6057:Cep128	UTSW	12	91,262,998 (GRCm39)	missense	possibly damaging	0.92
R6831:Cep128	UTSW	12	91,233,748 (GRCm39)	missense	probably damaging	0.99
R6852:Cep128	UTSW	12	91,333,116 (GRCm39)	critical splice donor site	probably null
R7078:Cep128	UTSW	12	91,200,878 (GRCm39)	missense	probably damaging	0.99
R7144:Cep128	UTSW	12	91,260,933 (GRCm39)	missense	probably damaging	0.98
R7487:Cep128	UTSW	12	90,966,404 (GRCm39)	missense	probably benign	0.05
R7582:Cep128	UTSW	12	91,314,340 (GRCm39)	missense	probably damaging	0.96
R7713:Cep128	UTSW	12	90,986,096 (GRCm39)	missense	probably benign	0.07
R8245:Cep128	UTSW	12	90,966,419 (GRCm39)	missense	probably benign	0.03
R8893:Cep128	UTSW	12	91,263,006 (GRCm39)	missense	probably damaging	1.00
R8913:Cep128	UTSW	12	91,331,221 (GRCm39)	critical splice acceptor site	probably null
R8935:Cep128	UTSW	12	91,233,770 (GRCm39)	missense	probably damaging	0.99
R8991:Cep128	UTSW	12	91,200,987 (GRCm39)	missense	probably damaging	0.97
R9168:Cep128	UTSW	12	91,233,794 (GRCm39)	missense	probably damaging	1.00
Z1177:Cep128	UTSW	12	91,331,145 (GRCm39)	missense	probably damaging	1.00
Z1177:Cep128	UTSW	12	91,256,377 (GRCm39)	missense	probably benign	0.02

Posted On

2014-01-21