Mutagenetix > Incidental Mutation

Incidental Mutation 'R1283:Fdxacb1'

151088

Institutional Source

Beutler Lab

Gene Symbol

Fdxacb1

Ensembl Gene

ENSMUSG00000037845

Gene Name

ferredoxin-fold anticodon binding domain containing 1

Synonyms

D630004A14Rik

MMRRC Submission

039349-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1283 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50679538-50683981 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50679994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 60 (E60G)

Ref Sequence

ENSEMBL: ENSMUSP00000135796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042391] [ENSMUST00000042468] [ENSMUST00000042576] [ENSMUST00000176145] [ENSMUST00000176238] [ENSMUST00000176335] [ENSMUST00000177384] [ENSMUST00000177546]

AlphaFold

Q3UY23

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042391
AA Change: E60G

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037082
Gene: ENSMUSG00000037845
AA Change: E60G

Domain	Start	End	E-Value	Type
Pfam:DUF2431	7	176	1.4e-44	PFAM
low complexity region	258	269	N/A	INTRINSIC
SCOP:d1jjca_	487	516	6e-4	SMART
FDX-ACB	528	622	5.88e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000042468

SMART Domains

Protein: ENSMUSP00000041803
Gene: ENSMUSG00000037971

Domain	Start	End	E-Value	Type
Pfam:DUF1143	1	149	7.7e-107	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042576

SMART Domains

Protein: ENSMUSP00000046890
Gene: ENSMUSG00000037971

Domain	Start	End	E-Value	Type
Pfam:DUF1143	15	164	1.8e-94	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176145
AA Change: E60G

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135796
Gene: ENSMUSG00000037845
AA Change: E60G

Domain	Start	End	E-Value	Type
Pfam:DUF2431	7	115	4.2e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176160

Predicted Effect

probably benign
Transcript: ENSMUST00000176238

SMART Domains

Protein: ENSMUSP00000135679
Gene: ENSMUSG00000037971

Domain	Start	End	E-Value	Type
Pfam:DUF1143	1	70	4.2e-47	PFAM
Pfam:DUF1143	68	126	5.3e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176335

SMART Domains

Protein: ENSMUSP00000135658
Gene: ENSMUSG00000037845

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
SCOP:d1jjca_	285	314	3e-4	SMART
FDX-ACB	326	420	5.88e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177022

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176894

Predicted Effect

probably benign
Transcript: ENSMUST00000177384

Predicted Effect

probably benign
Transcript: ENSMUST00000177546

SMART Domains

Protein: ENSMUSP00000134870
Gene: ENSMUSG00000037971

Domain	Start	End	E-Value	Type
Pfam:DUF1143	13	72	3.3e-39	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a ferredoxin-fold anticodon-binding domain which is contained in a subset of phenylalanyl tRNA synthetases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,336,701 (GRCm39)	I2269N	probably damaging	Het
Ap4b1	T	A	3: 103,726,177 (GRCm39)	V251E	probably damaging	Het
Btn2a2	A	G	13: 23,663,002 (GRCm39)	V316A	probably damaging	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Gins3	A	G	8: 96,364,574 (GRCm39)	D108G	probably damaging	Het
Gsdmc2	T	C	15: 63,696,906 (GRCm39)	I422V	probably damaging	Het
Impg2	TACCACCACCACCACCACCACCACCA	TACCACCACCACCACCACCACCA	16: 56,078,302 (GRCm39)		probably benign	Het
Lamb2	A	G	9: 108,359,007 (GRCm39)	N241S	possibly damaging	Het
Mfsd12	T	C	10: 81,197,269 (GRCm39)	V254A	probably benign	Het
Mgst3	A	G	1: 167,205,865 (GRCm39)	V38A	possibly damaging	Het
Myh13	A	T	11: 67,261,747 (GRCm39)	E1890V	probably damaging	Het
Or52n20	A	G	7: 104,320,150 (GRCm39)	I80M	possibly damaging	Het
Rab11fip3	G	T	17: 26,223,528 (GRCm39)	D800E	probably damaging	Het
Scn8a	T	C	15: 100,867,052 (GRCm39)	I286T	possibly damaging	Het
Slc25a44	T	C	3: 88,327,885 (GRCm39)	Y183C	probably damaging	Het
Tmem170b	T	C	13: 41,781,471 (GRCm39)	F39L	possibly damaging	Het
Trpt1	T	A	19: 6,975,696 (GRCm39)	L150*	probably null	Het

Other mutations in Fdxacb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02403:Fdxacb1	APN	9	50,682,863 (GRCm39)	missense	possibly damaging	0.75
IGL02828:Fdxacb1	APN	9	50,682,864 (GRCm39)	missense	possibly damaging	0.75
IGL02799:Fdxacb1	UTSW	9	50,683,896 (GRCm39)	missense	probably benign	0.01
R0755:Fdxacb1	UTSW	9	50,683,025 (GRCm39)	missense	possibly damaging	0.87
R1395:Fdxacb1	UTSW	9	50,683,796 (GRCm39)	frame shift	probably null
R1991:Fdxacb1	UTSW	9	50,682,946 (GRCm39)	missense	probably benign	0.00
R2103:Fdxacb1	UTSW	9	50,682,946 (GRCm39)	missense	probably benign	0.00
R2273:Fdxacb1	UTSW	9	50,683,321 (GRCm39)	missense	probably benign	0.01
R2913:Fdxacb1	UTSW	9	50,679,699 (GRCm39)	missense	probably benign	0.05
R2914:Fdxacb1	UTSW	9	50,679,699 (GRCm39)	missense	probably benign	0.05
R4289:Fdxacb1	UTSW	9	50,683,879 (GRCm39)	missense	probably damaging	0.99
R4492:Fdxacb1	UTSW	9	50,681,547 (GRCm39)	missense	probably damaging	0.99
R4668:Fdxacb1	UTSW	9	50,681,560 (GRCm39)	missense	possibly damaging	0.74
R4742:Fdxacb1	UTSW	9	50,679,968 (GRCm39)	unclassified	probably benign
R4789:Fdxacb1	UTSW	9	50,681,418 (GRCm39)	missense	possibly damaging	0.84
R4935:Fdxacb1	UTSW	9	50,683,243 (GRCm39)	missense	probably benign	0.00
R5190:Fdxacb1	UTSW	9	50,683,387 (GRCm39)	missense	possibly damaging	0.78
R5652:Fdxacb1	UTSW	9	50,679,705 (GRCm39)	missense	probably damaging	1.00
R6130:Fdxacb1	UTSW	9	50,683,902 (GRCm39)	nonsense	probably null
R7483:Fdxacb1	UTSW	9	50,681,451 (GRCm39)	missense	possibly damaging	0.89
R7487:Fdxacb1	UTSW	9	50,681,519 (GRCm39)	missense	possibly damaging	0.88
R7571:Fdxacb1	UTSW	9	50,683,093 (GRCm39)	missense	probably damaging	0.98
R8069:Fdxacb1	UTSW	9	50,680,135 (GRCm39)	missense	probably damaging	1.00
R8201:Fdxacb1	UTSW	9	50,681,455 (GRCm39)	unclassified	probably benign
R8907:Fdxacb1	UTSW	9	50,681,451 (GRCm39)	missense	probably damaging	0.97
R9331:Fdxacb1	UTSW	9	50,681,511 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACGTAAGAAATGTGCGCCCC -3'
(R):5'- ACCTGGAAACATTTTCTATGCCAGGAC -3'

Sequencing Primer
(F):5'- GATCCCAGCGTCAGTGTTAC -3'
(R):5'- ATGCCAGGACTCGTCTTGC -3'

Posted On

2014-01-29