Mutagenetix > Incidental Mutation

Incidental Mutation 'R4530:Cetn4'

333066

Institutional Source

Beutler Lab

Gene Symbol

Cetn4

Ensembl Gene

ENSMUSG00000045031

Gene Name

centrin 4

Synonyms

MMRRC Submission

041770-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R4530 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37362776-37366595 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37364094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 39 (V39I)

Ref Sequence

ENSEMBL: ENSMUSP00000132689 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057975] [ENSMUST00000071400] [ENSMUST00000075537] [ENSMUST00000102955] [ENSMUST00000108121] [ENSMUST00000125252] [ENSMUST00000140956]

AlphaFold

Q8K4K1

Predicted Effect

probably benign
Transcript: ENSMUST00000057975

SMART Domains

Protein: ENSMUSP00000052179
Gene: ENSMUSG00000051444

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	22	153	5.6e-8	PFAM
Pfam:Cpn60_TCP1	299	568	4.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071400

SMART Domains

Protein: ENSMUSP00000071349
Gene: ENSMUSG00000045031

Domain	Start	End	E-Value	Type
EFh	28	56	4.74e-3	SMART
EFh	58	86	1.23e-1	SMART
EFh	94	122	2.94e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075537
AA Change: V91I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074975
Gene: ENSMUSG00000045031
AA Change: V91I

Domain	Start	End	E-Value	Type
EFh	28	56	1.28e-8	SMART
EFh	64	92	7.82e-4	SMART
EFh	93	119	1.11e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102955
AA Change: V91I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100020
Gene: ENSMUSG00000045031
AA Change: V91I

Domain	Start	End	E-Value	Type
EFh	28	56	1.28e-8	SMART
EFh	64	92	7.82e-4	SMART
EFh	101	129	1.23e-1	SMART
EFh	137	165	2.94e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108121

SMART Domains

Protein: ENSMUSP00000103756
Gene: ENSMUSG00000051444

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	181	576	3.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125252
AA Change: V39I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129410
Gene: ENSMUSG00000045031
AA Change: V39I

Domain	Start	End	E-Value	Type
EFh	12	40	7.82e-4	SMART
EFh	49	77	1.23e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138710

Predicted Effect

probably benign
Transcript: ENSMUST00000140956
AA Change: V39I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132689
Gene: ENSMUSG00000045031
AA Change: V39I

Domain	Start	End	E-Value	Type
EFh	12	40	7.82e-4	SMART
EFh	49	77	1.23e-1	SMART
EFh	85	113	2.94e-8	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

93% (37/40)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	T	C	14: 56,016,485 (GRCm39)	D322G	probably damaging	Het
Akap9	T	A	5: 4,093,948 (GRCm39)	F2157I	probably damaging	Het
Arhgap42	T	C	9: 9,011,433 (GRCm39)	D451G	probably damaging	Het
Arhgef7	T	C	8: 11,850,802 (GRCm39)	M144T	possibly damaging	Het
Arid4b	C	A	13: 14,301,040 (GRCm39)	T41N	probably damaging	Het
Axin1	T	A	17: 26,407,146 (GRCm39)	Y580N	probably benign	Het
Cdc27	T	C	11: 104,419,252 (GRCm39)	N227D	possibly damaging	Het
Clec2h	A	G	6: 128,639,457 (GRCm39)	D18G	possibly damaging	Het
Clec4e	T	C	6: 123,266,733 (GRCm39)		probably benign	Het
Cntnap4	T	C	8: 113,584,842 (GRCm39)	I1093T	probably benign	Het
Dner	G	T	1: 84,560,736 (GRCm39)	N136K	probably damaging	Het
Gpr158	A	G	2: 21,373,811 (GRCm39)	S249G	probably benign	Het
Il16	A	C	7: 83,330,518 (GRCm39)		probably benign	Het
Intu	T	G	3: 40,637,794 (GRCm39)	C427G	possibly damaging	Het
Kif21a	A	C	15: 90,852,292 (GRCm39)		probably null	Het
Lin54	G	A	5: 100,594,419 (GRCm39)	T582I	possibly damaging	Het
Mroh7	T	C	4: 106,577,634 (GRCm39)	E348G	possibly damaging	Het
Or10g6	G	A	9: 39,934,589 (GRCm39)	R300K	probably benign	Het
Or2h1b	C	T	17: 37,462,498 (GRCm39)	V122M	possibly damaging	Het
Or8g2b	G	T	9: 39,751,379 (GRCm39)	M216I	probably benign	Het
Or8k38	T	C	2: 86,487,905 (GRCm39)	D299G	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Plbd1	T	A	6: 136,628,823 (GRCm39)	I82F	probably benign	Het
Prss43	A	T	9: 110,658,572 (GRCm39)	M291L	probably benign	Het
Rap1gds1	T	C	3: 138,663,186 (GRCm39)	N338D	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Stip1	G	T	19: 7,013,026 (GRCm39)	N19K	probably benign	Het
Tat	T	A	8: 110,722,842 (GRCm39)	F301L	probably benign	Het
Tmprss11a	C	A	5: 86,576,540 (GRCm39)	V104L	possibly damaging	Het
Ttc3	T	A	16: 94,267,736 (GRCm39)		probably benign	Het
Tubgcp3	G	T	8: 12,713,932 (GRCm39)	L62I	probably damaging	Het
Vcan	A	T	13: 89,852,147 (GRCm39)	F938I	probably damaging	Het
Wrap73	A	G	4: 154,241,164 (GRCm39)		probably benign	Het
Xndc1	C	A	7: 101,727,942 (GRCm39)	N85K	probably benign	Het
Zfp282	C	T	6: 47,867,567 (GRCm39)	P248S	probably benign	Het
Zfp930	C	T	8: 69,681,483 (GRCm39)	Q393*	probably null	Het

Other mutations in Cetn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02390:Cetn4	APN	3	37,363,305 (GRCm39)	missense	probably damaging	0.99
R1547:Cetn4	UTSW	3	37,363,600 (GRCm39)	missense	possibly damaging	0.88
R3500:Cetn4	UTSW	3	37,364,109 (GRCm39)	missense	probably benign	0.16
R5269:Cetn4	UTSW	3	37,364,118 (GRCm39)	nonsense	probably null
R5442:Cetn4	UTSW	3	37,364,094 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGTGCTCTGTGATTGCCAG -3'
(R):5'- AGTTCAAAATGCGATCATGGC -3'

Sequencing Primer
(F):5'- CTCTGTGATTGCCAGGTCCAG -3'
(R):5'- CATGGCATTATTAAAATATGTCCCCC -3'

Posted On

2015-08-18