Mutagenetix > Incidental Mutation

Incidental Mutation 'R3500:Cetn4'

273745

Institutional Source

Beutler Lab

Gene Symbol

Cetn4

Ensembl Gene

ENSMUSG00000045031

Gene Name

centrin 4

Synonyms

MMRRC Submission

040663-MU

Accession Numbers

Essential gene?

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

Stock #

R3500 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37362776-37366595 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37364109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 34 (F34I)

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: F86I

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000074975
Gene: ENSMUSG00000045031
AA Change: F86I

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: F86I

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000100020
Gene: ENSMUSG00000045031
AA Change: F86I

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: F34I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000129410
Gene: ENSMUSG00000045031
AA Change: F34I

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: F34I

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000132689
Gene: ENSMUSG00000045031
AA Change: F34I

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: 98.7%
10x: 97.7%
20x: 96.2%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amhr2	A	G	15: 102,355,501 (GRCm39)	D188G	probably benign	Het
Arl15	G	A	13: 114,104,228 (GRCm39)	E102K	probably damaging	Het
Atp10d	C	T	5: 72,403,066 (GRCm39)	R319C	probably damaging	Het
Chd8	G	T	14: 52,443,110 (GRCm39)	H510N	probably benign	Het
Chil5	T	C	3: 105,925,536 (GRCm39)	D157G	probably damaging	Het
Clcn1	T	C	6: 42,269,929 (GRCm39)	S251P	probably damaging	Het
Clstn3	A	T	6: 124,408,670 (GRCm39)	C881S	probably benign	Het
Cnot4	G	A	6: 35,057,076 (GRCm39)		probably benign	Het
Copg1	G	A	6: 87,872,905 (GRCm39)		probably benign	Het
Czib	C	T	4: 107,748,710 (GRCm39)	R83W	probably damaging	Het
Eftud2	A	G	11: 102,735,006 (GRCm39)	M631T	probably damaging	Het
Elavl3	A	G	9: 21,930,040 (GRCm39)	V288A	probably damaging	Het
Fancb	A	G	X: 163,779,104 (GRCm39)	T721A	probably damaging	Het
Fat2	A	G	11: 55,151,342 (GRCm39)	F3800S	probably damaging	Het
Fgd2	T	C	17: 29,584,575 (GRCm39)	V173A	possibly damaging	Het
Gabrr1	T	C	4: 33,158,184 (GRCm39)		probably benign	Het
Gata4	C	T	14: 63,437,982 (GRCm39)	G390S	possibly damaging	Het
Gm9396	C	A	3: 129,862,144 (GRCm39)		noncoding transcript	Het
Grid2	T	C	6: 63,480,383 (GRCm39)	S66P	probably damaging	Het
Hdac9	C	A	12: 34,487,352 (GRCm39)	M16I	probably benign	Het
Kmt2c	A	T	5: 25,504,477 (GRCm39)	D3610E	probably benign	Het
Lactb2	A	T	1: 13,730,673 (GRCm39)	M1K	probably null	Het
Ldhb	T	C	6: 142,447,173 (GRCm39)	D47G	probably damaging	Het
Map3k11	A	T	19: 5,740,275 (GRCm39)	M1L	probably benign	Het
Mecom	C	T	3: 30,035,061 (GRCm39)	R205H	probably damaging	Het
Mob1b	A	G	5: 88,897,479 (GRCm39)	D129G	probably benign	Het
Nbea	A	G	3: 55,588,431 (GRCm39)	V2436A	possibly damaging	Het
Neb	T	C	2: 52,215,797 (GRCm39)	N170S	probably damaging	Het
Nedd4l	G	A	18: 65,345,931 (GRCm39)	A848T	probably damaging	Het
Nr5a1	G	A	2: 38,597,952 (GRCm39)	R282*	probably null	Het
Or4c102	A	G	2: 88,422,285 (GRCm39)	T46A	probably damaging	Het
Or4c119	C	T	2: 88,987,403 (GRCm39)	G39R	probably damaging	Het
Or4d10c	A	G	19: 12,065,421 (GRCm39)	V245A	possibly damaging	Het
Or4f47	T	C	2: 111,972,472 (GRCm39)	F61L	possibly damaging	Het
Or52e2	T	C	7: 102,804,297 (GRCm39)	Y219C	probably damaging	Het
Pcdhb19	T	A	18: 37,630,532 (GRCm39)	L109*	probably null	Het
Plcg2	A	G	8: 118,339,717 (GRCm39)	M1043V	probably benign	Het
Podxl2	T	C	6: 88,819,900 (GRCm39)	D554G	probably damaging	Het
Ppp3ca	A	G	3: 136,587,273 (GRCm39)	T252A	probably benign	Het
Pramel6	A	G	2: 87,339,569 (GRCm39)	H111R	probably damaging	Het
Prr19	A	G	7: 25,002,692 (GRCm39)	E130G	probably damaging	Het
Rab44	C	T	17: 29,357,041 (GRCm39)	A57V	probably benign	Het
Rhbdl3	T	C	11: 80,210,531 (GRCm39)	F95L	probably damaging	Het
Sdk1	G	T	5: 141,992,371 (GRCm39)		probably benign	Het
Tas2r122	T	A	6: 132,688,523 (GRCm39)	K123N	probably damaging	Het
Tbpl2	C	T	2: 23,977,151 (GRCm39)	R289Q	probably benign	Het
Trpm2	A	G	10: 77,768,136 (GRCm39)	F788L	probably benign	Het
Ttn	G	A	2: 76,560,628 (GRCm39)	L29258F	probably damaging	Het
Ttn	G	T	2: 76,591,509 (GRCm39)	F19307L	possibly damaging	Het
Vmn2r23	T	C	6: 123,690,129 (GRCm39)	I335T	possibly damaging	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
R4530:Cetn4	UTSW	3	37,364,094 (GRCm39)	missense	probably benign
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'- CTGAAAATATCTGTCCTTGCTGTTG -3'
(R):5'- CCAGAATTATCAAAGTTACGTCCTC -3'

Sequencing Primer
(F):5'- GCTGTTGTATCCCCACTACAAAC -3'
(R):5'- GTTACGTCCTCTATCTGTAAATCTTG -3'

Posted On

2015-04-02