Mutagenetix > Incidental Mutation

Incidental Mutation 'R6500:Sfxn1'

519689

Institutional Source

Beutler Lab

Gene Symbol

Sfxn1

Ensembl Gene

ENSMUSG00000021474

Gene Name

sideroflexin 1

Synonyms

A930015P12Rik, 2810002O05Rik

MMRRC Submission

044632-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6500 (G1)

Quality Score

196.009

Status

Validated

Chromosome

Chromosomal Location

54225888-54262361 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 54242918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 59 (V59I)

Ref Sequence

ENSEMBL: ENSMUSP00000021930 (fasta)

Gene Model

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

AlphaFold

Q99JR1

Predicted Effect

probably benign
Transcript: ENSMUST00000021930
AA Change: V59I

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

SMART Domains

Protein: ENSMUSP00000021930
Gene: ENSMUSG00000021474
AA Change: V59I

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

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	G	12: 81,606,380 (GRCm39)	F461L	probably benign	Het
Adamtsl3	C	A	7: 82,227,818 (GRCm39)	H1334Q	probably benign	Het
Adgrf1	A	G	17: 43,621,263 (GRCm39)	N500S	probably damaging	Het
Afdn	A	G	17: 14,042,634 (GRCm39)	D335G	possibly damaging	Het
Arhgap19	G	A	19: 41,775,077 (GRCm39)	T178M	probably damaging	Het
Chac2	T	C	11: 30,927,625 (GRCm39)	D86G	probably damaging	Het
Clhc1	T	C	11: 29,510,542 (GRCm39)	S209P	possibly damaging	Het
Col1a2	G	A	6: 4,515,517 (GRCm39)	G127S	unknown	Het
Coro2b	A	G	9: 62,396,606 (GRCm39)	F51L	probably benign	Het
Cux2	A	G	5: 122,002,789 (GRCm39)	S1139P	probably benign	Het
Cyth3	A	T	5: 143,693,595 (GRCm39)	I379F	probably damaging	Het
Dock2	A	T	11: 34,312,822 (GRCm39)	L240H	possibly damaging	Het
Ercc6	A	G	14: 32,248,780 (GRCm39)	K444E	probably damaging	Het
Fam3b	A	G	16: 97,302,101 (GRCm39)	L52P	possibly damaging	Het
Fat4	T	G	3: 39,035,418 (GRCm39)	Y3023*	probably null	Het
Gad1	A	T	2: 70,423,780 (GRCm39)	N396Y	probably damaging	Het
Gbp2b	A	G	3: 142,317,252 (GRCm39)	E536G	probably benign	Het
Gm11564	G	A	11: 99,706,061 (GRCm39)	T123I	unknown	Het
Herc2	G	T	7: 55,796,393 (GRCm39)	E1922*	probably null	Het
Hrh4	G	T	18: 13,155,525 (GRCm39)	V355F	probably damaging	Het
Isyna1	A	G	8: 71,047,339 (GRCm39)	I21V	probably damaging	Het
Jak1	T	C	4: 101,039,130 (GRCm39)	D165G	probably benign	Het
Klhl38	C	A	15: 58,185,809 (GRCm39)	G307*	probably null	Het
Krt77	T	C	15: 101,772,772 (GRCm39)	N269S	probably damaging	Het
Lrp4	T	A	2: 91,322,765 (GRCm39)	I1118N	possibly damaging	Het
Ly6i	T	C	15: 74,853,833 (GRCm39)	Y30C	probably damaging	Het
Magi2	A	G	5: 20,807,345 (GRCm39)	E620G	possibly damaging	Het
Mbl2	A	G	19: 30,216,839 (GRCm39)	D217G	possibly damaging	Het
Mogat2	T	A	7: 98,871,553 (GRCm39)	I253F	probably benign	Het
Mpped2	T	C	2: 106,691,925 (GRCm39)	L210P	probably damaging	Het
Nav3	C	A	10: 109,600,617 (GRCm39)	A1337S	probably damaging	Het
Ncaph2	T	A	15: 89,248,407 (GRCm39)	V206E	probably benign	Het
Nlgn1	T	C	3: 25,488,094 (GRCm39)	E747G	possibly damaging	Het
Nlrc3	C	T	16: 3,770,308 (GRCm39)	G237D	possibly damaging	Het
Nsun7	A	G	5: 66,452,827 (GRCm39)	D514G	probably benign	Het
Or10al5	C	G	17: 38,063,577 (GRCm39)	D277E	probably damaging	Het
Pals2	A	G	6: 50,175,146 (GRCm39)	K500E	possibly damaging	Het
Pcnx2	C	A	8: 126,480,224 (GRCm39)	V2028F	probably damaging	Het
Pdx1	G	T	5: 147,207,440 (GRCm39)	W131L	probably damaging	Het
Pkdrej	C	T	15: 85,703,747 (GRCm39)	V730I	probably damaging	Het
Plcg1	T	A	2: 160,596,487 (GRCm39)	Y669N	probably damaging	Het
Plpp1	G	T	13: 113,003,454 (GRCm39)	W226L	probably damaging	Het
Shank1	T	C	7: 43,976,645 (GRCm39)	I581T	unknown	Het
Slc35f6	A	C	5: 30,814,164 (GRCm39)	K150N	possibly damaging	Het
Slc5a7	A	T	17: 54,591,231 (GRCm39)	S234T	probably benign	Het
Smg6	C	T	11: 74,821,331 (GRCm39)	T534I	possibly damaging	Het
Ush2a	C	T	1: 188,573,724 (GRCm39)	T3649I	probably benign	Het
Vmn1r158	T	C	7: 22,490,078 (GRCm39)	T44A	possibly damaging	Het
Vmn1r217	A	T	13: 23,298,073 (GRCm39)	Y276*	probably null	Het
Vmn2r100	T	A	17: 19,742,355 (GRCm39)	I243N	probably damaging	Het
Vwde	T	C	6: 13,208,404 (GRCm39)		probably null	Het
Washc4	C	A	10: 83,394,687 (GRCm39)	P306T	probably damaging	Het
Wdhd1	C	T	14: 47,488,217 (GRCm39)		probably null	Het
Xpo6	T	C	7: 125,770,262 (GRCm39)		probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAACACTGCTTGGTAGACATG -3'
(R):5'- ACACTGACTAACCCGTGACG -3'

Sequencing Primer
(F):5'- ATAGCGTGCATGCTCAGTATG -3'
(R):5'- TAACCCGTGACGCGCAC -3'

Posted On

2018-06-06