Mutagenetix > Incidental Mutation

Incidental Mutation 'R5485:Sfxn5'

432515

Institutional Source

Beutler Lab

Gene Symbol

Sfxn5

Ensembl Gene

ENSMUSG00000033720

Gene Name

sideroflexin 5

Synonyms

C230001H08Rik

MMRRC Submission

043046-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R5485 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85190031-85310404 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 85309582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045846] [ENSMUST00000059034] [ENSMUST00000060837] [ENSMUST00000113787] [ENSMUST00000113788] [ENSMUST00000204087]

AlphaFold

Q925N0

Predicted Effect

probably benign
Transcript: ENSMUST00000045846

SMART Domains

Protein: ENSMUSP00000041872
Gene: ENSMUSG00000033720

Domain	Start	End	E-Value	Type
low complexity region	2	26	N/A	INTRINSIC
Pfam:Mtc	34	342	2.5e-126	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000059034

SMART Domains

Protein: ENSMUSP00000054648
Gene: ENSMUSG00000033720

Domain	Start	End	E-Value	Type
low complexity region	2	26	N/A	INTRINSIC
Pfam:Mtc	34	292	2.1e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060837

SMART Domains

Protein: ENSMUSP00000058305
Gene: ENSMUSG00000051343

Domain	Start	End	E-Value	Type
C2	20	143	8.7e-7	SMART
low complexity region	248	265	N/A	INTRINSIC
low complexity region	313	322	N/A	INTRINSIC
low complexity region	356	391	N/A	INTRINSIC
Pfam:RBD-FIP	593	640	5.1e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102058

Predicted Effect

unknown
Transcript: ENSMUST00000113787
AA Change: Q41L

Predicted Effect

probably benign
Transcript: ENSMUST00000113788

SMART Domains

Protein: ENSMUSP00000109418
Gene: ENSMUSG00000033720

Domain	Start	End	E-Value	Type
low complexity region	2	26	N/A	INTRINSIC
Pfam:Mtc	34	89	6.7e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148179

Predicted Effect

probably benign
Transcript: ENSMUST00000204087

SMART Domains

Protein: ENSMUSP00000145402
Gene: ENSMUSG00000051343

Domain	Start	End	E-Value	Type
C2	20	143	5.8e-9	SMART
low complexity region	248	265	N/A	INTRINSIC
low complexity region	313	322	N/A	INTRINSIC
low complexity region	356	391	N/A	INTRINSIC
low complexity region	529	547	N/A	INTRINSIC
low complexity region	560	568	N/A	INTRINSIC
low complexity region	603	627	N/A	INTRINSIC
low complexity region	687	692	N/A	INTRINSIC
low complexity region	713	732	N/A	INTRINSIC
low complexity region	852	887	N/A	INTRINSIC
low complexity region	893	901	N/A	INTRINSIC
low complexity region	1037	1052	N/A	INTRINSIC
low complexity region	1068	1106	N/A	INTRINSIC
low complexity region	1115	1149	N/A	INTRINSIC
Pfam:RBD-FIP	1266	1313	8.5e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149362

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.6%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,378 (GRCm39)	V85D	probably benign	Het
Abcb8	A	G	5: 24,605,159 (GRCm39)	N115S	probably benign	Het
Appl1	C	A	14: 26,684,823 (GRCm39)	L75F	probably damaging	Het
Atp13a5	A	G	16: 29,100,760 (GRCm39)		probably null	Het
Atp2c2	T	A	8: 120,479,801 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,864,979 (GRCm39)	I94F	probably damaging	Het
Clasp1	A	G	1: 118,395,643 (GRCm39)	I194V	possibly damaging	Het
Crebbp	A	C	16: 3,932,777 (GRCm39)	D1000E	probably benign	Het
Ctdnep1	C	T	11: 69,872,316 (GRCm39)	R3W	possibly damaging	Het
Dgkb	T	C	12: 38,177,363 (GRCm39)	V230A	probably damaging	Het
Duoxa2	T	C	2: 122,129,633 (GRCm39)	F38L	possibly damaging	Het
Ecd	T	C	14: 20,388,273 (GRCm39)	S172G	probably benign	Het
Endog	G	T	2: 30,061,663 (GRCm39)		probably benign	Het
Eqtn	G	A	4: 94,813,193 (GRCm39)	P131L	possibly damaging	Het
Gabbr1	T	A	17: 37,367,767 (GRCm39)	S290T	possibly damaging	Het
Glt8d2	T	A	10: 82,487,282 (GRCm39)	R319S	possibly damaging	Het
Gm16686	A	G	4: 88,673,641 (GRCm39)		probably benign	Het
Gm5709	A	T	3: 59,542,983 (GRCm39)		noncoding transcript	Het
Gm7381	T	C	8: 3,892,161 (GRCm39)		noncoding transcript	Het
Gorab	T	G	1: 163,213,871 (GRCm39)	D353A	possibly damaging	Het
Gstm1	A	G	3: 107,924,720 (GRCm39)	L20P	probably damaging	Het
Hexim2	A	G	11: 103,029,884 (GRCm39)	D312G	probably benign	Het
Hfm1	A	G	5: 106,995,528 (GRCm39)		probably null	Het
Mbd4	C	A	6: 115,827,679 (GRCm39)	A66S	probably benign	Het
Mmp27	T	A	9: 7,573,363 (GRCm39)	W152R	probably damaging	Het
Mogat1	A	G	1: 78,500,307 (GRCm39)	T124A	probably benign	Het
Mrps18b	A	T	17: 36,225,236 (GRCm39)	V102D	probably damaging	Het
Or10g3b	A	T	14: 52,586,776 (GRCm39)	C242*	probably null	Het
Peg10	T	A	6: 4,755,565 (GRCm39)	M47K	probably benign	Het
Plxnc1	T	G	10: 94,758,604 (GRCm39)	Q364P	probably benign	Het
Psd	A	T	19: 46,304,528 (GRCm39)		probably null	Het
Rims1	T	G	1: 22,522,289 (GRCm39)	I470L	possibly damaging	Het
Sbsn	T	C	7: 30,452,542 (GRCm39)	V519A	possibly damaging	Het
Senp1	A	G	15: 97,964,377 (GRCm39)	V279A	probably benign	Het
Slc6a13	T	A	6: 121,313,032 (GRCm39)	M483K	probably damaging	Het
Slc6a21	G	A	7: 44,931,966 (GRCm39)		probably null	Het
Slco6c1	T	C	1: 97,053,481 (GRCm39)	Y140C	probably damaging	Het
Spata32	A	G	11: 103,100,122 (GRCm39)	S128P	probably damaging	Het
Spty2d1	G	T	7: 46,647,633 (GRCm39)	T432K	possibly damaging	Het
Stx8	A	G	11: 67,911,792 (GRCm39)	Q170R	probably benign	Het
Sytl3	G	A	17: 6,982,879 (GRCm39)	V112I	probably benign	Het
Tdrkh	A	G	3: 94,336,019 (GRCm39)	I420V	probably benign	Het
Tmem117	T	C	15: 94,992,711 (GRCm39)	V457A	probably benign	Het
Tpk1	T	C	6: 43,642,746 (GRCm39)		probably benign	Het
Trpc2	GTGTCCTA	GTGTCCTATGTCCTA	7: 101,744,420 (GRCm39)		probably null	Het
Tsen54	A	G	11: 115,706,048 (GRCm39)	E90G	probably benign	Het
Ugt1a2	A	T	1: 88,128,968 (GRCm39)	M204L	probably damaging	Het
Vmn2r17	A	T	5: 109,567,972 (GRCm39)	I32F	probably benign	Het
Xkr6	T	C	14: 64,056,833 (GRCm39)	V248A	unknown	Het
Zfhx4	C	A	3: 5,308,067 (GRCm39)	S431Y	probably damaging	Het
Zfp318	T	A	17: 46,723,180 (GRCm39)	S1728T	possibly damaging	Het
Zfp563	T	C	17: 33,308,540 (GRCm39)		probably benign	Het

Other mutations in Sfxn5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03404:Sfxn5	APN	6	85,276,518 (GRCm39)	splice site	probably benign
IGL02991:Sfxn5	UTSW	6	85,266,190 (GRCm39)	missense	possibly damaging	0.61
R0513:Sfxn5	UTSW	6	85,246,955 (GRCm39)	splice site	probably benign
R0734:Sfxn5	UTSW	6	85,244,847 (GRCm39)	splice site	probably benign
R1510:Sfxn5	UTSW	6	85,213,907 (GRCm39)	missense	probably damaging	1.00
R1776:Sfxn5	UTSW	6	85,244,927 (GRCm39)	splice site	probably benign
R2483:Sfxn5	UTSW	6	85,309,260 (GRCm39)	critical splice donor site	probably null
R3732:Sfxn5	UTSW	6	85,276,258 (GRCm39)	intron	probably benign
R3732:Sfxn5	UTSW	6	85,276,258 (GRCm39)	intron	probably benign
R3733:Sfxn5	UTSW	6	85,276,258 (GRCm39)	intron	probably benign
R4199:Sfxn5	UTSW	6	85,192,724 (GRCm39)	missense	probably benign	0.44
R4212:Sfxn5	UTSW	6	85,309,288 (GRCm39)	nonsense	probably null
R4850:Sfxn5	UTSW	6	85,309,358 (GRCm39)	unclassified	probably benign
R6193:Sfxn5	UTSW	6	85,246,918 (GRCm39)	missense	probably damaging	0.98
R6613:Sfxn5	UTSW	6	85,246,890 (GRCm39)	critical splice donor site	probably null
R6997:Sfxn5	UTSW	6	85,233,414 (GRCm39)	missense	probably benign	0.25
R7078:Sfxn5	UTSW	6	85,309,366 (GRCm39)	missense	unknown
R7154:Sfxn5	UTSW	6	85,309,405 (GRCm39)	missense	unknown
R7406:Sfxn5	UTSW	6	85,244,889 (GRCm39)	missense	probably damaging	1.00
R8071:Sfxn5	UTSW	6	85,244,921 (GRCm39)	critical splice acceptor site	probably null
R8810:Sfxn5	UTSW	6	85,206,182 (GRCm39)	missense	probably benign	0.44
R8960:Sfxn5	UTSW	6	85,266,176 (GRCm39)	missense	probably damaging	0.97
R9646:Sfxn5	UTSW	6	85,266,195 (GRCm39)	missense	probably damaging	1.00
Z1177:Sfxn5	UTSW	6	85,206,232 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- CGTAATAACTAAGCTCCCATGC -3'
(R):5'- TTCCTCAACCTCCAGCAAGG -3'

Sequencing Primer
(F):5'- GTAATAACTAAGCTCCCATGCTCCTG -3'
(R):5'- CTGCGTGTGCCCTAGGATG -3'

Posted On

2016-10-05