Mutagenetix > Incidental Mutation

Incidental Mutation 'R6650:Sfxn3'

527762

Institutional Source

Beutler Lab

Gene Symbol

Sfxn3

Ensembl Gene

ENSMUSG00000025212

Gene Name

sideroflexin 3

Synonyms

MMRRC Submission

044771-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6650 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45035942-45044822 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 45038354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062213] [ENSMUST00000062213] [ENSMUST00000084493] [ENSMUST00000084493] [ENSMUST00000111954] [ENSMUST00000111954] [ENSMUST00000145391] [ENSMUST00000169459]

AlphaFold

Q91V61

Predicted Effect

probably null
Transcript: ENSMUST00000062213

SMART Domains

Protein: ENSMUSP00000059419
Gene: ENSMUSG00000025212

Domain	Start	End	E-Value	Type
Pfam:Mtc	15	321	1.8e-154	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000062213

SMART Domains

Protein: ENSMUSP00000059419
Gene: ENSMUSG00000025212

Domain	Start	End	E-Value	Type
Pfam:Mtc	15	321	1.8e-154	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000084493

SMART Domains

Protein: ENSMUSP00000081537
Gene: ENSMUSG00000025212

Domain	Start	End	E-Value	Type
Pfam:Mtc	15	230	2.5e-106	PFAM
Pfam:Mtc	225	280	2.6e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000084493

SMART Domains

Protein: ENSMUSP00000081537
Gene: ENSMUSG00000025212

Domain	Start	End	E-Value	Type
Pfam:Mtc	15	230	2.5e-106	PFAM
Pfam:Mtc	225	280	2.6e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000111954

SMART Domains

Protein: ENSMUSP00000107585
Gene: ENSMUSG00000025212

Domain	Start	End	E-Value	Type
Pfam:Mtc	15	114	1.4e-48	PFAM
Pfam:Mtc	110	288	2.3e-78	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000111954

SMART Domains

Protein: ENSMUSP00000107585
Gene: ENSMUSG00000025212

Domain	Start	End	E-Value	Type
Pfam:Mtc	15	114	1.4e-48	PFAM
Pfam:Mtc	110	288	2.3e-78	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145391

SMART Domains

Protein: ENSMUSP00000119002
Gene: ENSMUSG00000074818

Domain	Start	End	E-Value	Type
low complexity region	12	35	N/A	INTRINSIC
PDZ	95	167	3.51e-19	SMART
PDZ	220	292	2.47e-14	SMART
low complexity region	319	344	N/A	INTRINSIC
low complexity region	442	459	N/A	INTRINSIC
low complexity region	521	533	N/A	INTRINSIC
low complexity region	724	744	N/A	INTRINSIC
low complexity region	768	809	N/A	INTRINSIC
low complexity region	812	824	N/A	INTRINSIC
PDZ	866	947	1.96e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169459

SMART Domains

Protein: ENSMUSP00000133273
Gene: ENSMUSG00000074818

Domain	Start	End	E-Value	Type
low complexity region	12	35	N/A	INTRINSIC
PDZ	95	167	3.51e-19	SMART
PDZ	220	292	2.47e-14	SMART
low complexity region	319	344	N/A	INTRINSIC
low complexity region	442	459	N/A	INTRINSIC
low complexity region	521	533	N/A	INTRINSIC
low complexity region	724	744	N/A	INTRINSIC
low complexity region	768	809	N/A	INTRINSIC
low complexity region	812	824	N/A	INTRINSIC
PDZ	866	947	1.96e-8	SMART

Meta Mutation Damage Score

0.9508

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (44/44)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal mitochondrial bioenergetics in isolated synaptosomes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	A	G	1: 78,659,639 (GRCm39)	N97S	probably benign	Het
Aph1a	T	C	3: 95,803,598 (GRCm39)	V220A	probably benign	Het
Bin2	T	A	15: 100,567,301 (GRCm39)	Q25L	probably damaging	Het
Ccdc102a	T	C	8: 95,639,892 (GRCm39)	E134G	probably benign	Het
Cdh6	A	G	15: 13,051,487 (GRCm39)	V382A	probably benign	Het
Cep135	T	A	5: 76,781,548 (GRCm39)	V845E	possibly damaging	Het
Cngb3	T	C	4: 19,364,168 (GRCm39)	L124P	probably damaging	Het
Cped1	A	G	6: 22,233,975 (GRCm39)	N725S	probably damaging	Het
Dcn	C	A	10: 97,343,605 (GRCm39)	N188K	probably benign	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Ercc3	C	T	18: 32,394,389 (GRCm39)	R590C	probably damaging	Het
Fchsd1	A	T	18: 38,099,555 (GRCm39)	L213*	probably null	Het
Fmod	A	G	1: 133,968,745 (GRCm39)	S262G	probably benign	Het
Gm45861	T	C	8: 27,995,043 (GRCm39)	S530P	unknown	Het
Ifih1	T	C	2: 62,436,791 (GRCm39)	D544G	possibly damaging	Het
Itpr1	A	G	6: 108,371,034 (GRCm39)		probably null	Het
Larp1	CA	CAA	11: 57,949,422 (GRCm39)		probably null	Het
Lbp	T	A	2: 158,151,587 (GRCm39)	S102R	probably benign	Het
Lepr	C	A	4: 101,672,398 (GRCm39)	Q1141K	probably damaging	Het
Mcm8	C	A	2: 132,663,327 (GRCm39)	N148K	probably benign	Het
Mcpt4	T	G	14: 56,298,090 (GRCm39)	T154P	possibly damaging	Het
Mrpl22	A	G	11: 58,066,134 (GRCm39)	Y76C	probably damaging	Het
Msln	T	C	17: 25,969,144 (GRCm39)	I414V	probably benign	Het
Ncor1	G	A	11: 62,225,367 (GRCm39)	T1798I	probably damaging	Het
Nlrp4c	T	A	7: 6,068,948 (GRCm39)	F283Y	probably damaging	Het
Os9	C	T	10: 126,935,953 (GRCm39)		probably null	Het
Pira12	T	A	7: 3,898,632 (GRCm39)	Q272L	probably benign	Het
Pira13	T	A	7: 3,819,898 (GRCm39)	H555L	possibly damaging	Het
Pja2	T	C	17: 64,599,936 (GRCm39)	E516G	probably damaging	Het
Pofut1	T	A	2: 153,101,270 (GRCm39)		probably benign	Het
Prl2b1	G	T	13: 27,569,249 (GRCm39)	H116Q	probably benign	Het
Ralgapa2	T	C	2: 146,230,422 (GRCm39)	K1048E	probably damaging	Het
Scnn1b	G	A	7: 121,502,043 (GRCm39)	V234M	probably damaging	Het
Sh3pxd2a	C	T	19: 47,256,663 (GRCm39)	G685D	probably benign	Het
Six4	C	A	12: 73,150,299 (GRCm39)	G749C	probably benign	Het
Tnn	G	A	1: 159,942,153 (GRCm39)	T1115I	probably damaging	Het
Tpcn1	T	A	5: 120,675,627 (GRCm39)	Q779L	probably null	Het
Ugt2a2	A	G	5: 87,622,459 (GRCm39)	Y380H	probably damaging	Het
Xkr8	T	C	4: 132,455,249 (GRCm39)	T375A	probably benign	Het
Zdhhc20	T	A	14: 58,096,032 (GRCm39)	K135N	probably damaging	Het
Zfp235	T	A	7: 23,836,463 (GRCm39)		probably null	Het
Zfp354c	A	G	11: 50,705,518 (GRCm39)	V519A	probably damaging	Het

Other mutations in Sfxn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
basilica	UTSW	19	45,038,354 (GRCm39)	critical splice donor site	probably null
pew	UTSW	19	45,038,254 (GRCm39)	missense	probably damaging	1.00
R4652:Sfxn3	UTSW	19	45,039,313 (GRCm39)	critical splice acceptor site	probably null
R4889:Sfxn3	UTSW	19	45,038,254 (GRCm39)	missense	probably damaging	1.00
R6649:Sfxn3	UTSW	19	45,038,354 (GRCm39)	critical splice donor site	probably null
R6651:Sfxn3	UTSW	19	45,038,354 (GRCm39)	critical splice donor site	probably null
R6652:Sfxn3	UTSW	19	45,038,354 (GRCm39)	critical splice donor site	probably null
R6653:Sfxn3	UTSW	19	45,038,354 (GRCm39)	critical splice donor site	probably null
R7341:Sfxn3	UTSW	19	45,037,701 (GRCm39)	missense	probably benign	0.01
R9110:Sfxn3	UTSW	19	45,038,727 (GRCm39)	missense	probably damaging	1.00
R9555:Sfxn3	UTSW	19	45,038,211 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- TGCCAATTTCTACAGGGCTG -3'
(R):5'- AGTGAGACTTAGCTCATGGTCC -3'

Sequencing Primer
(F):5'- TACAGGGCTGGTGTGGCAAC -3'
(R):5'- TAGCTCATGGTCCCCAAACTGG -3'

Posted On

2018-07-23