Mutagenetix > Incidental Mutation

Incidental Mutation 'R6652:Sfxn3'

528118

Institutional Source

Beutler Lab

Gene Symbol

Sfxn3

Ensembl Gene

ENSMUSG00000025212

Gene Name

sideroflexin 3

Synonyms

MMRRC Submission

044773-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6652 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45035942-45044822 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 45038354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062213] [ENSMUST00000062213] [ENSMUST00000084493] [ENSMUST00000084493] [ENSMUST00000111954] [ENSMUST00000111954] [ENSMUST00000145391] [ENSMUST00000169459]

AlphaFold

Q91V61

Predicted Effect

probably null
Transcript: ENSMUST00000062213

SMART Domains

Protein: ENSMUSP00000059419
Gene: ENSMUSG00000025212

Domain	Start	End	E-Value	Type
Pfam:Mtc	15	321	1.8e-154	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000062213

SMART Domains

Protein: ENSMUSP00000059419
Gene: ENSMUSG00000025212

Domain	Start	End	E-Value	Type
Pfam:Mtc	15	321	1.8e-154	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000084493

SMART Domains

Protein: ENSMUSP00000081537
Gene: ENSMUSG00000025212

Domain	Start	End	E-Value	Type
Pfam:Mtc	15	230	2.5e-106	PFAM
Pfam:Mtc	225	280	2.6e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000084493

SMART Domains

Protein: ENSMUSP00000081537
Gene: ENSMUSG00000025212

Domain	Start	End	E-Value	Type
Pfam:Mtc	15	230	2.5e-106	PFAM
Pfam:Mtc	225	280	2.6e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000111954

SMART Domains

Protein: ENSMUSP00000107585
Gene: ENSMUSG00000025212

Domain	Start	End	E-Value	Type
Pfam:Mtc	15	114	1.4e-48	PFAM
Pfam:Mtc	110	288	2.3e-78	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000111954

SMART Domains

Protein: ENSMUSP00000107585
Gene: ENSMUSG00000025212

Domain	Start	End	E-Value	Type
Pfam:Mtc	15	114	1.4e-48	PFAM
Pfam:Mtc	110	288	2.3e-78	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145391

SMART Domains

Protein: ENSMUSP00000119002
Gene: ENSMUSG00000074818

Domain	Start	End	E-Value	Type
low complexity region	12	35	N/A	INTRINSIC
PDZ	95	167	3.51e-19	SMART
PDZ	220	292	2.47e-14	SMART
low complexity region	319	344	N/A	INTRINSIC
low complexity region	442	459	N/A	INTRINSIC
low complexity region	521	533	N/A	INTRINSIC
low complexity region	724	744	N/A	INTRINSIC
low complexity region	768	809	N/A	INTRINSIC
low complexity region	812	824	N/A	INTRINSIC
PDZ	866	947	1.96e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169459

SMART Domains

Protein: ENSMUSP00000133273
Gene: ENSMUSG00000074818

Domain	Start	End	E-Value	Type
low complexity region	12	35	N/A	INTRINSIC
PDZ	95	167	3.51e-19	SMART
PDZ	220	292	2.47e-14	SMART
low complexity region	319	344	N/A	INTRINSIC
low complexity region	442	459	N/A	INTRINSIC
low complexity region	521	533	N/A	INTRINSIC
low complexity region	724	744	N/A	INTRINSIC
low complexity region	768	809	N/A	INTRINSIC
low complexity region	812	824	N/A	INTRINSIC
PDZ	866	947	1.96e-8	SMART

Meta Mutation Damage Score

0.9508

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

100% (42/42)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal mitochondrial bioenergetics in isolated synaptosomes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,846,164 (GRCm39)	D605G	probably damaging	Het
Cfh	A	T	1: 140,071,806 (GRCm39)	I294N	probably benign	Het
Clk3	A	G	9: 57,669,078 (GRCm39)	S49P	probably damaging	Het
Cmya5	A	G	13: 93,229,403 (GRCm39)	V1895A	probably benign	Het
Cmya5	T	C	13: 93,229,547 (GRCm39)	D1847G	probably damaging	Het
Cwf19l1	T	C	19: 44,103,138 (GRCm39)	D359G	probably benign	Het
Dag1	A	T	9: 108,086,289 (GRCm39)	M284K	probably damaging	Het
Ergic2	T	C	6: 148,091,079 (GRCm39)	Y211C	probably damaging	Het
Espnl	A	C	1: 91,272,421 (GRCm39)	I594L	probably benign	Het
Fam193b	A	G	13: 55,690,603 (GRCm39)	S226P	probably damaging	Het
Fat2	T	A	11: 55,143,088 (GRCm39)	I4254L	probably benign	Het
Fhdc1	T	C	3: 84,371,631 (GRCm39)	Y108C	probably damaging	Het
Fut9	G	C	4: 25,620,619 (GRCm39)	T65S	probably benign	Het
Gm9507	A	T	10: 77,647,493 (GRCm39)		probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Grap2	A	T	15: 80,532,723 (GRCm39)	N297Y	probably damaging	Het
Igfn1	A	G	1: 135,891,609 (GRCm39)	F2302S	probably damaging	Het
Ighv1-81	T	A	12: 115,884,051 (GRCm39)	I67F	probably damaging	Het
Kidins220	T	A	12: 25,060,059 (GRCm39)		probably null	Het
Kti12	T	A	4: 108,705,730 (GRCm39)	S215T	probably benign	Het
Mc1r	G	A	8: 124,134,370 (GRCm39)	G41D	probably damaging	Het
Mov10l1	A	G	15: 88,878,105 (GRCm39)	Y129C	probably damaging	Het
Mthfsd	A	T	8: 121,825,560 (GRCm39)	L337Q	probably damaging	Het
Musk	C	T	4: 58,368,977 (GRCm39)	A629V	probably damaging	Het
Nadsyn1	A	T	7: 143,364,955 (GRCm39)	M250K	probably benign	Het
Ncapd2	G	A	6: 125,163,233 (GRCm39)	H92Y	probably benign	Het
Or4e5	C	T	14: 52,728,250 (GRCm39)	R57Q	probably benign	Het
Or6y1	G	A	1: 174,276,627 (GRCm39)	C146Y	probably damaging	Het
Plec	A	T	15: 76,063,974 (GRCm39)	V2100E	probably damaging	Het
Prss37	C	A	6: 40,496,090 (GRCm39)		probably benign	Het
Sebox	A	T	11: 78,394,631 (GRCm39)	E32V	probably damaging	Het
Senp7	C	A	16: 55,944,257 (GRCm39)	Q194K	probably benign	Het
Spart	G	A	3: 55,032,248 (GRCm39)	E361K	probably benign	Het
Stn1	T	C	19: 47,496,017 (GRCm39)	T334A	probably benign	Het
Stoml1	A	G	9: 58,164,017 (GRCm39)	D112G	probably damaging	Het
Thap2	T	A	10: 115,212,441 (GRCm39)	D28V	probably damaging	Het
Ubap2	A	T	4: 41,196,743 (GRCm39)	N872K	possibly damaging	Het
Vezt	A	G	10: 93,806,141 (GRCm39)	F757L	probably damaging	Het
Vmn1r204	T	C	13: 22,740,573 (GRCm39)	I68T	probably damaging	Het
Wnt10a	A	G	1: 74,842,613 (GRCm39)		probably null	Het
Yipf7	A	G	5: 69,698,504 (GRCm39)	M1T	probably null	Het
Zdhhc19	T	C	16: 32,316,047 (GRCm39)	F48S	probably damaging	Het
Zfp317	C	T	9: 19,558,335 (GRCm39)	T183I	probably damaging	Het

Other mutations in Sfxn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
basilica	UTSW	19	45,038,354 (GRCm39)	critical splice donor site	probably null
pew	UTSW	19	45,038,254 (GRCm39)	missense	probably damaging	1.00
R4652:Sfxn3	UTSW	19	45,039,313 (GRCm39)	critical splice acceptor site	probably null
R4889:Sfxn3	UTSW	19	45,038,254 (GRCm39)	missense	probably damaging	1.00
R6649:Sfxn3	UTSW	19	45,038,354 (GRCm39)	critical splice donor site	probably null
R6650:Sfxn3	UTSW	19	45,038,354 (GRCm39)	critical splice donor site	probably null
R6651:Sfxn3	UTSW	19	45,038,354 (GRCm39)	critical splice donor site	probably null
R6653:Sfxn3	UTSW	19	45,038,354 (GRCm39)	critical splice donor site	probably null
R7341:Sfxn3	UTSW	19	45,037,701 (GRCm39)	missense	probably benign	0.01
R9110:Sfxn3	UTSW	19	45,038,727 (GRCm39)	missense	probably damaging	1.00
R9555:Sfxn3	UTSW	19	45,038,211 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- GCCAATTTCTACAGGGCTGG -3'
(R):5'- AAGTGAGACTTAGCTCATGGTCC -3'

Sequencing Primer
(F):5'- TACAGGGCTGGTGTGGCAAC -3'
(R):5'- TAGCTCATGGTCCCCAAACTGG -3'

Posted On

2018-07-24