Mutagenetix > Incidental Mutation

Incidental Mutation 'R9110:Sfxn3'

692231

Institutional Source

Beutler Lab

Gene Symbol

Sfxn3

Ensembl Gene

ENSMUSG00000025212

Gene Name

sideroflexin 3

Synonyms

MMRRC Submission

068919-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45035942-45044822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45038727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 131 (N131K)

Ref Sequence

ENSEMBL: ENSMUSP00000059419 (fasta)

Gene Model

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

AlphaFold

Q91V61

Predicted Effect

probably damaging
Transcript: ENSMUST00000062213
AA Change: N131K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059419
Gene: ENSMUSG00000025212
AA Change: N131K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000084493
AA Change: N131K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081537
Gene: ENSMUSG00000025212
AA Change: N131K

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 benign
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,831,615 (GRCm39)		probably benign	Het
Adam20	A	G	8: 41,248,907 (GRCm39)	D339G	probably benign	Het
Adam3	T	A	8: 25,193,821 (GRCm39)	Y397F	probably benign	Het
Ago3	C	T	4: 126,248,829 (GRCm39)	G574E	probably damaging	Het
Angptl4	T	A	17: 33,999,800 (GRCm39)	Y133F	probably benign	Het
Ankrd61	T	C	5: 143,831,759 (GRCm39)	D15G	possibly damaging	Het
Arfgap1	T	A	2: 180,615,330 (GRCm39)	S174T	possibly damaging	Het
Arhgap12	T	C	18: 6,034,539 (GRCm39)	D549G	possibly damaging	Het
Arhgap25	T	C	6: 87,453,254 (GRCm39)	E182G	probably benign	Het
Astn1	T	G	1: 158,496,327 (GRCm39)	I1127S	probably benign	Het
Bivm	T	C	1: 44,168,526 (GRCm39)		probably null	Het
Cdc42bpa	T	A	1: 179,945,258 (GRCm39)	S952T	possibly damaging	Het
Cfap44	T	A	16: 44,255,923 (GRCm39)	L1005Q	probably damaging	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cog1	T	C	11: 113,544,807 (GRCm39)	F330L	possibly damaging	Het
Dnah2	T	G	11: 69,435,208 (GRCm39)	D54A	probably benign	Het
Dntt	A	T	19: 41,044,197 (GRCm39)		probably null	Het
Eml2	A	G	7: 18,925,620 (GRCm39)	S240G	probably benign	Het
Fam174b	G	A	7: 73,416,371 (GRCm39)		probably benign	Het
Fancd2	T	C	6: 113,512,762 (GRCm39)	S33P	possibly damaging	Het
Fars2	A	T	13: 36,430,402 (GRCm39)	M277L	probably benign	Het
Ifnar1	G	A	16: 91,302,150 (GRCm39)	G542S	probably benign	Het
Itih5	T	C	2: 10,191,831 (GRCm39)	V122A	probably benign	Het
Jph3	A	G	8: 122,516,201 (GRCm39)	I740V	probably benign	Het
Krtap16-1	C	T	11: 99,877,386 (GRCm39)	C6Y	probably benign	Het
Mettl25b	G	A	3: 87,834,978 (GRCm39)	H57Y	probably benign	Het
Mpeg1	A	T	19: 12,440,014 (GRCm39)	T491S	probably benign	Het
Mroh8	T	A	2: 157,055,605 (GRCm39)	I998L	possibly damaging	Het
Nrxn1	G	A	17: 90,869,233 (GRCm39)	Q124*	probably null	Het
Nup188	T	A	2: 30,222,461 (GRCm39)	S1028T	possibly damaging	Het
Nxf1	A	T	19: 8,745,118 (GRCm39)	H456L	probably damaging	Het
Or2aj6	T	A	16: 19,443,743 (GRCm39)	I36F	possibly damaging	Het
Or2n1d	C	A	17: 38,646,434 (GRCm39)	P129T	probably damaging	Het
Or5af2	T	A	11: 58,707,959 (GRCm39)	S42T	possibly damaging	Het
Or5w19	T	A	2: 87,698,543 (GRCm39)	D69E	probably damaging	Het
Or6c66	T	A	10: 129,461,820 (GRCm39)	I37F	possibly damaging	Het
Otx2	T	C	14: 48,896,227 (GRCm39)	N277S	probably damaging	Het
Pax4	T	C	6: 28,445,201 (GRCm39)	N158S	probably benign	Het
Pgm2	T	G	5: 64,261,159 (GRCm39)	S218A	probably benign	Het
Plb1	T	C	5: 32,521,402 (GRCm39)	S1418P	probably benign	Het
Prkd3	T	A	17: 79,292,751 (GRCm39)	D107V	probably damaging	Het
Prl2a1	A	G	13: 27,992,398 (GRCm39)	E174G	probably benign	Het
Prr7	C	T	13: 55,620,574 (GRCm39)	P194L	probably damaging	Het
Psmd2	T	C	16: 20,470,994 (GRCm39)	S46P	probably damaging	Het
Ptbp2	C	T	3: 119,541,258 (GRCm39)	A231T	possibly damaging	Het
Rae1	A	G	2: 172,854,016 (GRCm39)	T265A	probably benign	Het
Sct	T	C	7: 140,859,007 (GRCm39)	E2G	unknown	Het
Sec14l3	T	G	11: 4,015,007 (GRCm39)		probably null	Het
Slc18a2	A	T	19: 59,282,326 (GRCm39)	D511V	probably benign	Het
Slc20a2	T	C	8: 23,025,457 (GRCm39)	I53T	probably damaging	Het
Smad4	T	C	18: 73,782,941 (GRCm39)	D331G	probably damaging	Het
Srms	C	T	2: 180,848,050 (GRCm39)	R485H		Het
Szt2	C	A	4: 118,242,630 (GRCm39)	A1486S	possibly damaging	Het
Tmem87b	C	T	2: 128,684,615 (GRCm39)	Q459*	probably null	Het
Vdr	A	T	15: 97,782,753 (GRCm39)	I23N	probably damaging	Het
Vmn1r204	T	C	13: 22,740,564 (GRCm39)	V65A	possibly damaging	Het
Vps33b	A	G	7: 79,939,743 (GRCm39)	D498G	probably benign	Het
Zfp442	T	A	2: 150,250,093 (GRCm39)	Y603F	probably benign	Het
Zfp853	T	A	5: 143,275,320 (GRCm39)	Q115L	unknown	Het
Zmiz2	C	A	11: 6,348,271 (GRCm39)	Q303K	probably benign	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
R6652: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
R9555:Sfxn3	UTSW	19	45,038,211 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- GGGACCATGAGCTAAGTCTCAC -3'
(R):5'- AAGCCTTCTTCCTTCTTTAAAAGGG -3'

Sequencing Primer
(F):5'- CCATGAGCTAAGTCTCACTTGAGG -3'
(R):5'- CCTTCTTTAAAAGGGCAATGGATCCC -3'

Posted On

2021-12-30