Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00673:Cep128'

9614

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 #

IGL00673

Quality Score

Status

Chromosome

Chromosomal Location

90965266-91351183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 91200965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 31 (H31Q)

Ref Sequence

ENSEMBL: ENSMUSP00000119394 (fasta)

Gene Model

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

AlphaFold

Q8BI22

Predicted Effect

probably benign
Transcript: ENSMUST00000140674
AA Change: H31Q

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119394
Gene: ENSMUSG00000061533
AA Change: H31Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000141429
AA Change: H801Q

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000115679
Gene: ENSMUSG00000061533
AA Change: H801Q

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 benign
Transcript: ENSMUST00000143415
AA Change: H348Q

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000122627
Gene: ENSMUSG00000061533
AA Change: H348Q

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	T	C	9: 90,075,714 (GRCm39)	S1191P	possibly damaging	Het
Alg2	C	T	4: 47,472,329 (GRCm39)	D160N	probably damaging	Het
Cd177	A	T	7: 24,451,442 (GRCm39)	F487Y	possibly damaging	Het
Cdc27	A	G	11: 104,419,261 (GRCm39)	Y224H	probably damaging	Het
Cdhr1	A	G	14: 36,807,485 (GRCm39)	V385A	probably benign	Het
Ehd4	A	G	2: 119,932,701 (GRCm39)	S242P	probably damaging	Het
Esco1	A	G	18: 10,582,078 (GRCm39)	F647L	probably damaging	Het
Itgbl1	C	T	14: 124,083,844 (GRCm39)		probably benign	Het
Kcnj3	G	T	2: 55,485,284 (GRCm39)	D461Y	possibly damaging	Het
Kcnq3	G	A	15: 65,867,120 (GRCm39)	T841M	probably damaging	Het
Kcnt2	T	G	1: 140,523,789 (GRCm39)	N1103K	possibly damaging	Het
Mib1	A	G	18: 10,798,490 (GRCm39)	S784G	probably benign	Het
Miga2	T	G	2: 30,257,729 (GRCm39)	M9R	probably benign	Het
Pals1	C	A	12: 78,876,573 (GRCm39)	R506S	possibly damaging	Het
Prl2a1	T	C	13: 27,992,436 (GRCm39)	S187P	probably damaging	Het
Psg28	A	G	7: 18,161,816 (GRCm39)	V229A	probably damaging	Het
Ptdss2	G	T	7: 140,723,038 (GRCm39)	C84F	probably benign	Het
Recql	T	A	6: 142,322,647 (GRCm39)	N85I	probably null	Het
Tex47	A	T	5: 7,355,211 (GRCm39)	I131F	probably damaging	Het
Tlk1	G	T	2: 70,575,860 (GRCm39)	Q323K	probably damaging	Het

Other mutations in Cep128

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00800:Cep128	APN	12	91,222,438 (GRCm39)	missense	possibly damaging	0.83
IGL01738:Cep128	APN	12	91,197,616 (GRCm39)	missense	probably damaging	1.00
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

2012-12-06