Mutagenetix > Incidental Mutation

Incidental Mutation 'R2226:Sfxn1'

239741

Institutional Source

Beutler Lab

Gene Symbol

Sfxn1

Ensembl Gene

ENSMUSG00000021474

Gene Name

sideroflexin 1

Synonyms

A930015P12Rik, 2810002O05Rik

MMRRC Submission

040227-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2226 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54225888-54262361 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54239536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 20 (T20A)

Ref Sequence

ENSEMBL: ENSMUSP00000021930 (fasta)

Gene Model

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

AlphaFold

Q99JR1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021930
AA Change: T20A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021930
Gene: ENSMUSG00000021474
AA Change: T20A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223504

Meta Mutation Damage Score

0.7148

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	T	4: 144,190,295 (GRCm39)	V2E	possibly damaging	Het
Aen	C	A	7: 78,552,199 (GRCm39)	T15K	probably benign	Het
Aggf1	A	G	13: 95,507,354 (GRCm39)	S144P	probably damaging	Het
Ar	T	A	X: 97,194,937 (GRCm39)	M517K	probably benign	Het
Ascc3	A	G	10: 50,630,148 (GRCm39)	T1746A	probably benign	Het
Atg9b	A	G	5: 24,591,393 (GRCm39)	V735A	possibly damaging	Het
Atp1b3	A	G	9: 96,225,329 (GRCm39)	F113S	probably damaging	Het
Cacna1h	T	C	17: 25,604,917 (GRCm39)	N1132S	probably benign	Het
Ccdc150	A	G	1: 54,404,084 (GRCm39)	I943V	probably null	Het
Cntnap4	A	G	8: 113,542,120 (GRCm39)	D751G	probably damaging	Het
Dgkk	T	A	X: 6,741,487 (GRCm39)	D102E	probably damaging	Het
Efhb	A	T	17: 53,769,457 (GRCm39)		probably null	Het
Elfn2	A	G	15: 78,558,443 (GRCm39)	W35R	probably damaging	Het
Emcn	T	C	3: 137,109,778 (GRCm39)	I140T	possibly damaging	Het
Epha2	G	A	4: 141,048,548 (GRCm39)	R569H	probably damaging	Het
Gabrg2	A	T	11: 41,862,735 (GRCm39)	F116L	probably damaging	Het
Gm11555	T	G	11: 99,540,585 (GRCm39)	R141S	unknown	Het
Hectd3	T	C	4: 116,852,886 (GRCm39)	I96T	possibly damaging	Het
Hnrnpul2	T	A	19: 8,802,349 (GRCm39)	N405K	probably damaging	Het
Iigp1	A	T	18: 60,522,960 (GRCm39)	K26I	possibly damaging	Het
Kirrel2	T	C	7: 30,153,579 (GRCm39)	K260R	probably damaging	Het
Kpna1	G	A	16: 35,851,591 (GRCm39)	A392T	probably damaging	Het
Krt19	T	C	11: 100,032,401 (GRCm39)	E260G	probably damaging	Het
Marchf7	A	G	2: 60,060,190 (GRCm39)	R106G	probably benign	Het
Mthfd2l	G	T	5: 91,096,693 (GRCm39)	E105*	probably null	Het
Mtus1	C	T	8: 41,535,812 (GRCm39)	V635M	probably damaging	Het
Ndufaf5	T	C	2: 140,030,780 (GRCm39)	V222A	probably benign	Het
Nkpd1	A	T	7: 19,253,745 (GRCm39)	Y37F	probably benign	Het
Nsun7	T	A	5: 66,418,562 (GRCm39)	Y97*	probably null	Het
Nxph3	T	C	11: 95,404,990 (GRCm39)	Y17C	probably benign	Het
Or2l5	T	C	16: 19,333,996 (GRCm39)	H130R	probably benign	Het
Or4k1	A	G	14: 50,378,076 (GRCm39)	S7P	probably damaging	Het
Or51a5	A	G	7: 102,771,115 (GRCm39)	M292T	probably benign	Het
Or5aq1	A	C	2: 86,966,590 (GRCm39)	V25G	possibly damaging	Het
Or7g19	A	T	9: 18,856,177 (GRCm39)	I78F	probably damaging	Het
P2rx2	A	G	5: 110,490,745 (GRCm39)	F26S	probably damaging	Het
Pank1	A	T	19: 34,804,763 (GRCm39)	L131Q	probably damaging	Het
Pcx	T	C	19: 4,668,026 (GRCm39)	I516T	possibly damaging	Het
Pkhd1l1	T	C	15: 44,376,188 (GRCm39)	I950T	possibly damaging	Het
Ppwd1	A	G	13: 104,353,753 (GRCm39)	L335P	probably damaging	Het
Ptch1	A	G	13: 63,661,485 (GRCm39)	S1218P	probably damaging	Het
Ptpn4	C	T	1: 119,610,515 (GRCm39)	R664Q	probably damaging	Het
Semp2l1	A	T	1: 32,584,934 (GRCm39)	H325Q	probably damaging	Het
Sgsm3	A	G	15: 80,888,069 (GRCm39)	E53G	probably damaging	Het
Slc22a19	C	T	19: 7,661,215 (GRCm39)	V320M	possibly damaging	Het
Slc25a33	A	T	4: 149,838,306 (GRCm39)	I122N	probably benign	Het
Spata31d1a	T	A	13: 59,851,529 (GRCm39)	I200L	probably benign	Het
Spin2g	A	T	X: 33,656,599 (GRCm39)	I171N	possibly damaging	Het
Srsf6	G	A	2: 162,773,619 (GRCm39)	S10N	probably damaging	Het
Tesl2	T	A	X: 23,825,173 (GRCm39)	M1L	probably null	Het
Thoc2l	T	A	5: 104,667,286 (GRCm39)	Y603N	probably damaging	Het
Ttc12	A	G	9: 49,353,135 (GRCm39)		probably null	Het
Vmn2r100	A	G	17: 19,742,634 (GRCm39)	K336R	probably benign	Het
Vmn2r108	A	T	17: 20,701,295 (GRCm39)	Y68*	probably null	Het
Zfp738	A	G	13: 67,818,431 (GRCm39)	F520S	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
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
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

Predicted Primers

PCR Primer
(F):5'- CGTAGGTTTGGAATGCAGGC -3'
(R):5'- AAGCTGGGAAATGTAGCGCC -3'

Sequencing Primer
(F):5'- TTTGGAATGCAGGCCACCAC -3'
(R):5'- TACCTGTAGTCATGCACC -3'

Posted On

2014-10-15