Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02536:Sfxn1'

297526

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 #

IGL02536

Quality Score

Status

Chromosome

Chromosomal Location

54225888-54262361 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54239513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 12 (K12R)

Ref Sequence

ENSEMBL: ENSMUSP00000021930 (fasta)

Gene Model

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

AlphaFold

Q99JR1

Predicted Effect

probably benign
Transcript: ENSMUST00000021930
AA Change: K12R

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

SMART Domains

Protein: ENSMUSP00000021930
Gene: ENSMUSG00000021474
AA Change: K12R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223504

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,685,665 (GRCm39)		noncoding transcript	Het
Abca8b	C	T	11: 109,872,574 (GRCm39)	R9H	probably benign	Het
Adamts8	T	A	9: 30,873,368 (GRCm39)	S858T	probably benign	Het
Alg1	C	T	16: 5,057,023 (GRCm39)	Q245*	probably null	Het
Ankmy1	T	C	1: 92,813,910 (GRCm39)	Y423C	probably damaging	Het
Anp32a	A	T	9: 62,279,110 (GRCm39)	T55S	probably damaging	Het
Arhgef9	A	C	X: 94,102,443 (GRCm39)	V406G	probably damaging	Het
Bdkrb1	T	C	12: 105,571,259 (GRCm39)	F275S	possibly damaging	Het
Card9	C	T	2: 26,248,844 (GRCm39)	V102I	possibly damaging	Het
Ccdc81	A	T	7: 89,526,788 (GRCm39)		probably benign	Het
Cd101	T	A	3: 100,910,913 (GRCm39)	D915V	probably damaging	Het
Cdk10	A	G	8: 123,953,754 (GRCm39)	D77G	possibly damaging	Het
Ctnnd1	T	C	2: 84,435,540 (GRCm39)	T827A	probably benign	Het
Dspp	A	C	5: 104,323,531 (GRCm39)	T225P	probably damaging	Het
Evpl	T	C	11: 116,112,035 (GRCm39)	E1885G	probably damaging	Het
Fstl4	C	T	11: 53,024,851 (GRCm39)		probably benign	Het
Gm5930	T	A	14: 44,575,015 (GRCm39)	N57I	probably damaging	Het
Gnl2	C	T	4: 124,946,401 (GRCm39)	Q541*	probably null	Het
Igkv3-1	T	C	6: 70,681,035 (GRCm39)	V78A	probably benign	Het
Inpp5a	T	C	7: 139,147,338 (GRCm39)	I321T	probably benign	Het
Kif20b	T	A	19: 34,951,959 (GRCm39)	S1746T	probably benign	Het
Lrrc8c	T	C	5: 105,755,038 (GRCm39)	I271T	probably benign	Het
Mrps10	T	C	17: 47,685,928 (GRCm39)	Y152H	probably damaging	Het
Myl9	C	T	2: 156,620,469 (GRCm39)	S2L	probably damaging	Het
Myof	A	T	19: 37,938,103 (GRCm39)	H870Q	probably damaging	Het
Nfatc4	A	T	14: 56,067,367 (GRCm39)	I456F	probably damaging	Het
Notch2	A	G	3: 98,009,723 (GRCm39)	H550R	probably benign	Het
Or13f5	T	A	4: 52,825,817 (GRCm39)	V140D	possibly damaging	Het
Or14j2	T	A	17: 37,885,817 (GRCm39)	I166F	probably damaging	Het
Or51v8	T	A	7: 103,320,164 (GRCm39)	I25F	possibly damaging	Het
Or8b47	T	C	9: 38,435,460 (GRCm39)	L144P	probably damaging	Het
P2rx1	A	T	11: 72,903,300 (GRCm39)	I230F	probably damaging	Het
Pcnt	A	G	10: 76,216,063 (GRCm39)	V2275A	possibly damaging	Het
Pip5k1a	G	A	3: 94,971,707 (GRCm39)	T465I	probably benign	Het
Pnkd	G	A	1: 74,391,059 (GRCm39)	R415H	probably damaging	Het
Prdx4	T	A	X: 154,115,443 (GRCm39)	I132F	probably damaging	Het
Pvr	A	G	7: 19,652,717 (GRCm39)	M66T	probably benign	Het
Rnf216	A	G	5: 143,065,995 (GRCm39)	I531T	probably benign	Het
Rps6ka4	A	T	19: 6,809,439 (GRCm39)	F405Y	probably damaging	Het
Serpinb2	A	G	1: 107,452,679 (GRCm39)		probably benign	Het
Slc17a7	A	G	7: 44,820,370 (GRCm39)	E275G	probably damaging	Het
Tnpo2	A	T	8: 85,771,696 (GRCm39)	I245F	probably benign	Het
Ush2a	A	T	1: 188,689,463 (GRCm39)		probably null	Het
Yju2b	A	T	8: 84,987,245 (GRCm39)	Y109*	probably null	Het
Zcchc4	C	T	5: 52,965,658 (GRCm39)	R321W	probably damaging	Het

Other mutations in Sfxn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Sfxn1	APN	13	54,247,935 (GRCm39)	missense	probably benign
IGL01775:Sfxn1	APN	13	54,259,758 (GRCm39)	splice site	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

2015-04-16