Mutagenetix > Incidental Mutation

Incidental Mutation 'R2306:Sfr1'

244607

Institutional Source

Beutler Lab

Gene Symbol

Sfr1

Ensembl Gene

ENSMUSG00000025066

Gene Name

SWI5 dependent recombination repair 1

Synonyms

6330577E15Rik

MMRRC Submission

040305-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2306 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47720159-47724027 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47723291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 265 (I265T)

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: I265T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096954
Gene: ENSMUSG00000025066
AA Change: I265T

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

Meta Mutation Damage Score

0.3700

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.2%
20x: 94.4%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	G	A	17: 43,024,010 (GRCm39)	H154Y	possibly damaging	Het
Arhgef7	T	A	8: 11,862,680 (GRCm39)	Y501*	probably null	Het
Atmin	T	C	8: 117,684,389 (GRCm39)	F683S	probably benign	Het
Bcat1	A	G	6: 144,953,379 (GRCm39)	V403A	probably damaging	Het
C4b	T	G	17: 34,947,492 (GRCm39)	M1729L	probably benign	Het
Cdh23	A	G	10: 60,159,224 (GRCm39)	S2185P	probably damaging	Het
Crispld2	T	G	8: 120,752,810 (GRCm39)	V286G	probably damaging	Het
Ctsw	T	C	19: 5,517,010 (GRCm39)		probably null	Het
Dnai1	T	C	4: 41,625,239 (GRCm39)	V401A	probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Ifitm2	T	A	7: 140,535,702 (GRCm39)	T43S	probably damaging	Het
Mark1	A	T	1: 184,633,058 (GRCm39)		probably benign	Het
Mme	A	G	3: 63,207,673 (GRCm39)	I40V	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Nfatc2	A	C	2: 168,432,023 (GRCm39)	F30C	probably damaging	Het
Npr2	T	A	4: 43,633,609 (GRCm39)	V251D	probably damaging	Het
Pax8	T	A	2: 24,333,057 (GRCm39)	Y96F	probably damaging	Het
Ppp1r13b	T	C	12: 111,811,327 (GRCm39)	E187G	probably damaging	Het
Rbp3	A	T	14: 33,684,520 (GRCm39)	D1183V	probably damaging	Het
Reln	T	G	5: 22,101,784 (GRCm39)	D3382A	probably damaging	Het
Rfc3	A	G	5: 151,567,243 (GRCm39)	L271P	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sdk1	C	T	5: 141,948,455 (GRCm39)	A600V	probably benign	Het
Syt13	G	A	2: 92,771,312 (GRCm39)	R133H	probably benign	Het
Tmem231	A	T	8: 112,645,503 (GRCm39)	V132D	probably damaging	Het
Tmem247	C	A	17: 87,225,869 (GRCm39)	A103E	probably benign	Het
Unc119b	A	T	5: 115,263,534 (GRCm39)	Y223*	probably null	Het
Vmn1r196	T	A	13: 22,477,473 (GRCm39)	F37L	probably benign	Het
Vps13c	T	A	9: 67,895,275 (GRCm39)	Y3627N	probably damaging	Het
Zfp292	C	A	4: 34,809,468 (GRCm39)	S1192I	probably damaging	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
R1282:Sfr1	UTSW	19	47,721,407 (GRCm39)	missense	probably damaging	1.00
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
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'- AAGGTTTGTCCAGAGCTTGTAC -3'
(R):5'- TGAGGCCCTAGGTATGATCAC -3'

Sequencing Primer
(F):5'- GTCCAGAGCTTGTACTGCCC -3'
(R):5'- GAGGCCCTAGGTATGATCACATCAC -3'

Posted On

2014-10-30