Mutagenetix > Incidental Mutation

Incidental Mutation 'R1282:Sfr1'

151080

Institutional Source

Beutler Lab

Gene Symbol

Sfr1

Ensembl Gene

ENSMUSG00000025066

Gene Name

SWI5 dependent recombination repair 1

Synonyms

6330577E15Rik

MMRRC Submission

039348-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1282 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47720159-47724027 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47721407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 118 (S118P)

Ref Sequence

ENSEMBL: ENSMUSP00000096954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099353] [ENSMUST00000160247]

AlphaFold

Q8BP27

Predicted Effect

probably damaging
Transcript: ENSMUST00000099353
AA Change: S118P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096954
Gene: ENSMUSG00000025066
AA Change: S118P

Domain	Start	End	E-Value	Type
low complexity region	16	61	N/A	INTRINSIC
Pfam:Mei5	104	310	4.8e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160247

SMART Domains

Protein: ENSMUSP00000125007
Gene: ENSMUSG00000044948

Domain	Start	End	E-Value	Type
low complexity region	12	36	N/A	INTRINSIC
Blast:WD40	70	111	6e-7	BLAST
Blast:WD40	115	156	1e-5	BLAST
Blast:WD40	162	197	8e-10	BLAST
WD40	349	388	1.07e0	SMART
Blast:WD40	392	432	3e-13	BLAST
WD40	435	473	3.96e1	SMART
WD40	479	518	3.82e1	SMART
Blast:WD40	638	683	8e-17	BLAST
Blast:WD40	689	728	1e-17	BLAST
low complexity region	766	781	N/A	INTRINSIC
coiled coil region	855	886	N/A	INTRINSIC
coiled coil region	925	961	N/A	INTRINSIC
low complexity region	971	981	N/A	INTRINSIC
coiled coil region	1170	1224	N/A	INTRINSIC
low complexity region	1248	1259	N/A	INTRINSIC
low complexity region	1268	1279	N/A	INTRINSIC
low complexity region	1524	1529	N/A	INTRINSIC
coiled coil region	1652	1671	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161832

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162657

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	T	C	1: 127,666,297 (GRCm39)	Y23H	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Atp2a2	G	T	5: 122,629,817 (GRCm39)	T84K	probably benign	Het
Cfap65	T	A	1: 74,964,263 (GRCm39)	T562S	probably benign	Het
Cyp2b10	G	A	7: 25,625,505 (GRCm39)	C436Y	probably damaging	Het
Dnajc7	T	C	11: 100,475,467 (GRCm39)	D381G	probably damaging	Het
Dnase1l3	T	C	14: 7,983,117 (GRCm38)	D129G	probably benign	Het
Espl1	A	G	15: 102,223,826 (GRCm39)	T1126A	probably benign	Het
Exoc3	T	C	13: 74,330,411 (GRCm39)	N506S	probably benign	Het
Fastkd3	C	A	13: 68,732,676 (GRCm39)	N332K	possibly damaging	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Foxp4	G	A	17: 48,186,568 (GRCm39)	P404S	unknown	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Gm12789	T	A	4: 101,845,487 (GRCm39)	W59R	probably damaging	Het
Greb1l	T	A	18: 10,547,289 (GRCm39)	N1502K	probably benign	Het
H2-K2	A	C	17: 34,218,421 (GRCm39)	I165S	probably damaging	Het
Ipo9	A	G	1: 135,330,030 (GRCm39)	I470T	possibly damaging	Het
Kcnu1	A	T	8: 26,395,985 (GRCm39)	I657F	probably benign	Het
Lrp1b	A	T	2: 40,750,773 (GRCm39)	N2930K	probably damaging	Het
Or56a5	T	A	7: 104,792,859 (GRCm39)	I220F	probably benign	Het
Prag1	T	C	8: 36,567,068 (GRCm39)	V73A	probably damaging	Het
Prrc2b	T	C	2: 32,113,456 (GRCm39)	I1963T	probably damaging	Het
Rep15	C	T	6: 146,934,727 (GRCm39)	R189*	probably null	Het
Resf1	C	T	6: 149,230,670 (GRCm39)	Q1239*	probably null	Het
Rtp3	T	C	9: 110,815,988 (GRCm39)	K188E	probably benign	Het
Scd2	T	C	19: 44,283,620 (GRCm39)	L101P	probably damaging	Het
Scn7a	A	T	2: 66,531,193 (GRCm39)	H561Q	probably damaging	Het
Slf1	C	T	13: 77,191,959 (GRCm39)	M958I	probably damaging	Het
Snrk	G	T	9: 121,989,586 (GRCm39)	R310L	possibly damaging	Het
Snx11	T	C	11: 96,663,987 (GRCm39)	Y35C	probably damaging	Het
Supt6	T	C	11: 78,119,594 (GRCm39)	T404A	possibly damaging	Het
Svep1	C	A	4: 58,100,032 (GRCm39)	L1337F	possibly damaging	Het
Traf3ip2	C	T	10: 39,502,401 (GRCm39)	T183M	probably damaging	Het
Vmn2r28	A	T	7: 5,484,301 (GRCm39)	M633K	probably damaging	Het
Vmn2r67	A	G	7: 84,785,932 (GRCm39)	V691A	probably benign	Het

Other mutations in Sfr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02483:Sfr1	APN	19	47,721,227 (GRCm39)	unclassified	probably benign
IGL02516:Sfr1	APN	19	47,721,429 (GRCm39)	critical splice donor site	probably null
R0128:Sfr1	UTSW	19	47,723,457 (GRCm39)	makesense	probably null
R1373:Sfr1	UTSW	19	47,723,355 (GRCm39)	missense	possibly damaging	0.84
R1396:Sfr1	UTSW	19	47,722,129 (GRCm39)	missense	probably benign	0.37
R1709:Sfr1	UTSW	19	47,723,442 (GRCm39)	missense	possibly damaging	0.76
R2306:Sfr1	UTSW	19	47,723,291 (GRCm39)	missense	probably damaging	1.00
R5634:Sfr1	UTSW	19	47,722,310 (GRCm39)	missense	probably damaging	1.00
R6714:Sfr1	UTSW	19	47,723,405 (GRCm39)	missense	probably damaging	1.00
R9526:Sfr1	UTSW	19	47,723,453 (GRCm39)	missense	probably damaging	1.00
R9772:Sfr1	UTSW	19	47,722,019 (GRCm39)	missense	probably benign	0.17
RF041:Sfr1	UTSW	19	47,721,307 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCCTCAGACCAGGGAGAATCCAC -3'
(R):5'- ATAGGACTGAGACACTTCGCCTGC -3'

Sequencing Primer
(F):5'- ATCACCACCGACTTCACCTG -3'
(R):5'- TTTGGAGCATCGCAGTAACC -3'

Posted On

2014-01-29