Mutagenetix > Incidental Mutation

Incidental Mutation 'R2225:Sfxn1'

239691

Institutional Source

Beutler Lab

Gene Symbol

Sfxn1

Ensembl Gene

ENSMUSG00000021474

Gene Name

sideroflexin 1

Synonyms

A930015P12Rik, 2810002O05Rik

MMRRC Submission

040226-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2225 (G1)

Quality Score

225

Status

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: 97.2%
20x: 94.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	C	6: 88,813,349 (GRCm39)	L439R	probably damaging	Het
Adcy10	A	G	1: 165,345,829 (GRCm39)	T293A	probably 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
Akap9	A	T	5: 4,127,271 (GRCm39)	R3706S	probably damaging	Het
Btd	A	G	14: 31,389,017 (GRCm39)	D246G	probably benign	Het
Ccdc33	A	G	9: 57,989,305 (GRCm39)	S123P	probably damaging	Het
Cep152	T	C	2: 125,423,704 (GRCm39)	E899G	probably damaging	Het
Cpsf6	A	T	10: 117,198,941 (GRCm39)		probably benign	Het
Crybg3	A	G	16: 59,375,041 (GRCm39)	I2071T	probably damaging	Het
Cwc22	T	A	2: 77,738,495 (GRCm39)		probably benign	Het
Ddah2	T	A	17: 35,279,187 (GRCm39)	I16N	probably damaging	Het
Dld	T	G	12: 31,391,448 (GRCm39)	M123L	probably benign	Het
Eif5b	A	T	1: 38,058,304 (GRCm39)	K202I	unknown	Het
Gm6430	T	C	1: 96,953,441 (GRCm39)		noncoding transcript	Het
Hdac9	C	T	12: 34,457,801 (GRCm39)	V251I	probably benign	Het
Hoxa10	T	C	6: 52,209,616 (GRCm39)	E52G	probably damaging	Het
Hspa4	C	T	11: 53,177,760 (GRCm39)	V117M	probably benign	Het
Htra4	T	C	8: 25,515,736 (GRCm39)	D434G	probably benign	Het
Itgb3	A	G	11: 104,556,336 (GRCm39)	M726V	probably benign	Het
Itih1	A	G	14: 30,651,534 (GRCm39)	V886A	possibly damaging	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,217,564 (GRCm39)		probably null	Het
Kpna1	G	A	16: 35,851,591 (GRCm39)	A392T	probably damaging	Het
Limk1	G	T	5: 134,690,410 (GRCm39)		probably null	Het
Lonrf1	T	C	8: 36,703,252 (GRCm39)	D308G	probably damaging	Het
Muc4	A	T	16: 32,576,265 (GRCm39)		probably benign	Het
Muc4	G	A	16: 32,587,316 (GRCm39)	C2719Y	possibly damaging	Het
Mvb12b	G	A	2: 33,730,211 (GRCm39)	T60I	possibly damaging	Het
Myh2	C	T	11: 67,084,555 (GRCm39)	T1698M	probably benign	Het
Naalad2	A	T	9: 18,287,829 (GRCm39)	V267E	possibly damaging	Het
Nkpd1	A	T	7: 19,253,745 (GRCm39)	Y37F	probably benign	Het
Or10d5	T	C	9: 39,861,833 (GRCm39)	K78R	possibly damaging	Het
Or2l5	T	C	16: 19,333,996 (GRCm39)	H130R	probably benign	Het
Or8g33	T	C	9: 39,337,915 (GRCm39)	I151V	probably benign	Het
Plekhg2	G	A	7: 28,059,760 (GRCm39)	P1190S	probably benign	Het
Reck	A	G	4: 43,922,837 (GRCm39)	T371A	probably benign	Het
Rnf185	T	C	11: 3,382,445 (GRCm39)	D44G	probably damaging	Het
Rpgrip1l	T	C	8: 91,948,095 (GRCm39)	E1196G	probably benign	Het
Rundc1	A	G	11: 101,322,170 (GRCm39)		probably benign	Het
Sf3b3	T	C	8: 111,541,205 (GRCm39)	Y970C	probably damaging	Het
Shprh	T	C	10: 11,037,979 (GRCm39)		probably benign	Het
Spata31d1a	T	A	13: 59,851,529 (GRCm39)	I200L	probably benign	Het
Srsf6	G	A	2: 162,773,619 (GRCm39)	S10N	probably damaging	Het
Tbxa2r	A	G	10: 81,168,983 (GRCm39)	Y224C	probably benign	Het
Tlr5	A	G	1: 182,799,941 (GRCm39)		probably benign	Het
Tmem270	A	G	5: 134,935,492 (GRCm39)	L21P	probably damaging	Het
Tmtc2	T	C	10: 105,206,218 (GRCm39)	E359G	probably benign	Het
Tnn	A	T	1: 159,975,035 (GRCm39)	C131S	probably damaging	Het
Tnnt2	A	G	1: 135,771,529 (GRCm39)		probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tph1	A	G	7: 46,314,598 (GRCm39)		probably null	Het
Wiz	C	T	17: 32,575,899 (GRCm39)	V836M	probably damaging	Het
Zfp451	T	A	1: 33,809,988 (GRCm39)		probably benign	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
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

Predicted Primers

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

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

Posted On

2014-10-15