Mutagenetix > Incidental Mutation

Incidental Mutation 'R5442:Cetn4'

427216

Institutional Source

Beutler Lab

Gene Symbol

Cetn4

Ensembl Gene

ENSMUSG00000045031

Gene Name

centrin 4

Synonyms

MMRRC Submission

043007-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R5442 (G1)

Quality Score

225

Status

Not 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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,909,594 (GRCm39)	M114T	probably benign	Het
Ablim3	A	T	18: 61,990,296 (GRCm39)		probably null	Het
Adcy10	A	G	1: 165,340,709 (GRCm39)	D238G	probably benign	Het
Astn2	G	T	4: 65,500,023 (GRCm39)	S955R	possibly damaging	Het
Casc3	A	G	11: 98,712,297 (GRCm39)	E112G	probably damaging	Het
Commd4	A	G	9: 57,064,090 (GRCm39)	V37A	possibly damaging	Het
Dyrk2	T	C	10: 118,696,643 (GRCm39)	Q205R	possibly damaging	Het
Gal3st4	A	G	5: 138,264,042 (GRCm39)	V319A	possibly damaging	Het
Inpp5d	G	A	1: 87,645,788 (GRCm39)	A1058T	probably benign	Het
Lpin3	A	G	2: 160,746,936 (GRCm39)	Y781C	probably damaging	Het
Lrat	C	T	3: 82,810,527 (GRCm39)	V165M	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Nlrp6	T	C	7: 140,502,103 (GRCm39)	S142P	probably benign	Het
Oas1a	T	C	5: 121,035,269 (GRCm39)	T349A	probably benign	Het
Or52e8	A	T	7: 104,624,435 (GRCm39)	F252L	possibly damaging	Het
Or5m3b	T	C	2: 85,872,295 (GRCm39)	V212A	probably benign	Het
Or5v1	A	T	17: 37,810,330 (GRCm39)	I263F	probably damaging	Het
Or8c20	T	A	9: 38,261,158 (GRCm39)	S260T	probably benign	Het
Pakap	C	A	4: 57,637,876 (GRCm39)	P18Q	probably null	Het
Pcdha2	T	C	18: 37,072,915 (GRCm39)	V182A	probably benign	Het
Phactr3	A	G	2: 177,784,254 (GRCm39)	D26G	probably benign	Het
Phrf1	G	A	7: 140,820,850 (GRCm39)	R159H	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rab3ip	T	C	10: 116,754,753 (GRCm39)	T268A	probably benign	Het
Rapgef3	T	C	15: 97,656,742 (GRCm39)	D299G	probably damaging	Het
Rem1	A	G	2: 152,469,977 (GRCm39)		probably null	Het
Slc28a2b	A	G	2: 122,317,350 (GRCm39)	N36S	probably benign	Het
Syne1	A	G	10: 5,293,473 (GRCm39)	M1286T	probably benign	Het
Thsd7a	T	C	6: 12,748,799 (GRCm39)	T52A	probably benign	Het
Tmem135	A	T	7: 88,793,872 (GRCm39)	F390Y	probably damaging	Het
Trio	T	C	15: 27,856,280 (GRCm39)	D696G	probably benign	Het
Ttll11	T	C	2: 35,793,135 (GRCm39)	*191W	probably null	Het
Ubr4	A	G	4: 139,135,083 (GRCm39)	D805G	probably damaging	Het
Usp9y	A	G	Y: 1,336,467 (GRCm39)	I1469T	possibly damaging	Het
Vmn1r70	G	T	7: 10,367,877 (GRCm39)	A122S	possibly damaging	Het
Vmn2r78	G	T	7: 86,569,330 (GRCm39)	L74F	possibly damaging	Het
Wdfy3	T	C	5: 102,044,425 (GRCm39)	E1860G	probably benign	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
R4530:Cetn4	UTSW	3	37,364,094 (GRCm39)	missense	probably benign
R5269:Cetn4	UTSW	3	37,364,118 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCAAAGTAGGTGCTCTG -3'
(R):5'- AAGTTCAAAATGCGATCATGGC -3'

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

Posted On

2016-09-01