Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01433:Sfxn1'

84242

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sfxn1

Ensembl Gene

ENSMUSG00000021474

Gene Name

sideroflexin 1

Synonyms

A930015P12Rik, 2810002O05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01433

Quality Score

Status

Chromosome

Chromosomal Location

54225888-54262361 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54247935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 220 (N220S)

Ref Sequence

ENSEMBL: ENSMUSP00000021930 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021930]

AlphaFold

Q99JR1

Predicted Effect

probably benign
Transcript: ENSMUST00000021930
AA Change: N220S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021930
Gene: ENSMUSG00000021474
AA Change: N220S

Domain	Start	End	E-Value	Type
Pfam:Mtc	16	322	8.3e-154	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223504

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	C	T	3: 30,652,188 (GRCm39)	G302D	probably damaging	Het
Adam19	T	C	11: 46,003,610 (GRCm39)	L146P	probably damaging	Het
Adcy8	T	A	15: 64,609,263 (GRCm39)	Y852F	possibly damaging	Het
Arfgef1	T	C	1: 10,223,657 (GRCm39)	T1520A	probably damaging	Het
Atp8b1	C	T	18: 64,706,590 (GRCm39)	V199I	probably benign	Het
Avl9	A	G	6: 56,730,382 (GRCm39)	D575G	probably damaging	Het
Bcam	C	A	7: 19,494,107 (GRCm39)	V395L	possibly damaging	Het
Bltp1	T	G	3: 36,941,919 (GRCm39)	S241R	probably damaging	Het
Ccdc198	G	T	14: 49,473,341 (GRCm39)	T128K	probably benign	Het
Cgn	T	A	3: 94,686,769 (GRCm39)	N178Y	probably damaging	Het
D5Ertd579e	A	T	5: 36,776,098 (GRCm39)	D168E	probably damaging	Het
Dnah17	G	T	11: 117,940,760 (GRCm39)	T3288K	probably damaging	Het
Ednrb	A	T	14: 104,080,626 (GRCm39)	I96N	probably damaging	Het
Gdpd3	A	G	7: 126,370,356 (GRCm39)	I264V	possibly damaging	Het
Itih4	T	C	14: 30,617,405 (GRCm39)	V575A	probably benign	Het
Jhy	G	A	9: 40,828,512 (GRCm39)	R465C	possibly damaging	Het
Kcna4	C	T	2: 107,127,078 (GRCm39)	S604F	probably damaging	Het
Kcnj6	A	G	16: 94,633,814 (GRCm39)	V99A	probably benign	Het
Kdm2a	A	G	19: 4,392,888 (GRCm39)	I489T	possibly damaging	Het
Kif13a	A	G	13: 46,926,384 (GRCm39)	S241P	probably damaging	Het
Lax1	T	C	1: 133,608,137 (GRCm39)	I201M	probably benign	Het
Lzic	T	A	4: 149,572,604 (GRCm39)	S65T	probably benign	Het
Marchf9	T	C	10: 126,892,562 (GRCm39)	T309A	probably benign	Het
Ndufc1	T	C	3: 51,314,797 (GRCm39)	K70E	possibly damaging	Het
Optn	T	C	2: 5,031,955 (GRCm39)	K504R	probably benign	Het
Or51q1	A	T	7: 103,628,539 (GRCm39)	I53F	probably damaging	Het
Pagr1a	A	G	7: 126,614,647 (GRCm39)		probably benign	Het
Pold1	G	A	7: 44,192,656 (GRCm39)		probably benign	Het
Ptprq	A	G	10: 107,412,741 (GRCm39)	I1786T	probably damaging	Het
Rgs20	T	C	1: 5,140,300 (GRCm39)	D34G	possibly damaging	Het
Rnps1	T	C	17: 24,643,519 (GRCm39)		probably null	Het
Rpgrip1	T	C	14: 52,363,834 (GRCm39)	V261A	probably damaging	Het
Slc35f1	T	A	10: 52,949,542 (GRCm39)		probably benign	Het
Slc5a4b	T	C	10: 75,906,329 (GRCm39)		probably benign	Het
Snx19	A	G	9: 30,340,067 (GRCm39)	I402V	possibly damaging	Het
Spaca6	T	C	17: 18,051,429 (GRCm39)	V35A	probably benign	Het
Taar2	A	G	10: 23,816,657 (GRCm39)	T66A	probably benign	Het
Tanc2	C	T	11: 105,701,348 (GRCm39)	H288Y	possibly damaging	Het
Tbc1d31	A	G	15: 57,804,164 (GRCm39)	Q393R	probably benign	Het
Trpm1	A	G	7: 63,854,276 (GRCm39)	Y133C	probably damaging	Het
Vmn2r105	T	C	17: 20,448,817 (GRCm39)	D120G	probably benign	Het
Vmn2r56	C	A	7: 12,449,541 (GRCm39)	M232I	probably benign	Het
Vps35l	A	G	7: 118,373,274 (GRCm39)		probably null	Het
Zfp251	C	T	15: 76,738,755 (GRCm39)	V113I	probably benign	Het

Other mutations in Sfxn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01775:Sfxn1	APN	13	54,259,758 (GRCm39)	splice site	probably benign
IGL02536:Sfxn1	APN	13	54,239,513 (GRCm39)	missense	probably benign
R1467:Sfxn1	UTSW	13	54,247,890 (GRCm39)	missense	possibly damaging	0.75
R1467:Sfxn1	UTSW	13	54,247,890 (GRCm39)	missense	possibly damaging	0.75
R1468:Sfxn1	UTSW	13	54,239,646 (GRCm39)	splice site	probably null
R1468:Sfxn1	UTSW	13	54,239,646 (GRCm39)	splice site	probably null
R1476:Sfxn1	UTSW	13	54,246,469 (GRCm39)	critical splice donor site	probably null
R1931:Sfxn1	UTSW	13	54,247,952 (GRCm39)	missense	probably damaging	0.96
R2224:Sfxn1	UTSW	13	54,239,536 (GRCm39)	missense	possibly damaging	0.96
R2225:Sfxn1	UTSW	13	54,239,536 (GRCm39)	missense	possibly damaging	0.96
R2226:Sfxn1	UTSW	13	54,239,536 (GRCm39)	missense	possibly damaging	0.96
R2288:Sfxn1	UTSW	13	54,247,976 (GRCm39)	missense	probably benign	0.37
R4655:Sfxn1	UTSW	13	54,246,457 (GRCm39)	missense	probably benign	0.14
R4989:Sfxn1	UTSW	13	54,242,933 (GRCm39)	missense	probably benign	0.14
R5064:Sfxn1	UTSW	13	54,239,588 (GRCm39)	missense	probably benign	0.05
R5950:Sfxn1	UTSW	13	54,245,306 (GRCm39)	missense	probably benign	0.05
R6046:Sfxn1	UTSW	13	54,242,961 (GRCm39)	missense	probably benign	0.14
R6170:Sfxn1	UTSW	13	54,260,526 (GRCm39)	missense	probably benign	0.16
R6267:Sfxn1	UTSW	13	54,247,899 (GRCm39)	missense	probably benign	0.03
R6296:Sfxn1	UTSW	13	54,247,899 (GRCm39)	missense	probably benign	0.03
R6322:Sfxn1	UTSW	13	54,258,869 (GRCm39)	missense	possibly damaging	0.66
R6500:Sfxn1	UTSW	13	54,242,918 (GRCm39)	missense	probably benign
R6634:Sfxn1	UTSW	13	54,247,048 (GRCm39)	missense	probably damaging	1.00
R6719:Sfxn1	UTSW	13	54,260,583 (GRCm39)	missense	probably benign
R7629:Sfxn1	UTSW	13	54,247,041 (GRCm39)	missense	probably damaging	1.00
R7814:Sfxn1	UTSW	13	54,245,250 (GRCm39)	missense	possibly damaging	0.93
R8905:Sfxn1	UTSW	13	54,246,433 (GRCm39)	missense	probably damaging	0.97

Posted On

2013-11-11