Mutagenetix > Incidental Mutations

Incidental Mutation 'R1148:Sfi1'

102533

Institutional Source

Beutler Lab

Gene Symbol

Sfi1

Ensembl Gene

ENSMUSG00000023764

Gene Name

Sfi1 homolog, spindle assembly associated (yeast)

Synonyms

MMRRC Submission

039221-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R1148 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

3131850-3193463 bp(-) (GRCm38)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

CCTCTC to CCTCTCTC at 3177419 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066391] [ENSMUST00000081318] [ENSMUST00000101655] [ENSMUST00000132893] [ENSMUST00000140846] [ENSMUST00000142315] [ENSMUST00000153425] [ENSMUST00000155763]

Predicted Effect

probably benign
Transcript: ENSMUST00000066391

SMART Domains

Protein: ENSMUSP00000067261
Gene: ENSMUSG00000023764

Domain	Start	End	E-Value	Type
internal_repeat_2	34	236	4.95e-5	PROSPERO
internal_repeat_1	78	336	3.02e-14	PROSPERO
low complexity region	342	358	N/A	INTRINSIC
internal_repeat_1	372	636	3.02e-14	PROSPERO
internal_repeat_2	574	804	4.95e-5	PROSPERO
low complexity region	809	821	N/A	INTRINSIC
low complexity region	849	860	N/A	INTRINSIC
coiled coil region	1086	1112	N/A	INTRINSIC
coiled coil region	1138	1168	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081318

SMART Domains

Protein: ENSMUSP00000080066
Gene: ENSMUSG00000023764

Domain	Start	End	E-Value	Type
internal_repeat_3	55	275	2e-6	PROSPERO
internal_repeat_1	67	288	7.56e-9	PROSPERO
internal_repeat_2	93	401	1.18e-6	PROSPERO
internal_repeat_3	380	607	2e-6	PROSPERO
internal_repeat_1	428	651	7.56e-9	PROSPERO
internal_repeat_2	524	836	1.18e-6	PROSPERO
low complexity region	841	853	N/A	INTRINSIC
low complexity region	881	892	N/A	INTRINSIC
coiled coil region	1118	1144	N/A	INTRINSIC
coiled coil region	1170	1200	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101655

SMART Domains

Protein: ENSMUSP00000099178
Gene: ENSMUSG00000023764

Domain	Start	End	E-Value	Type
internal_repeat_3	55	275	1.77e-6	PROSPERO
internal_repeat_1	67	288	6.51e-9	PROSPERO
internal_repeat_2	93	401	1.04e-6	PROSPERO
internal_repeat_3	380	607	1.77e-6	PROSPERO
internal_repeat_1	428	651	6.51e-9	PROSPERO
internal_repeat_2	524	836	1.04e-6	PROSPERO
low complexity region	841	853	N/A	INTRINSIC
low complexity region	881	892	N/A	INTRINSIC
coiled coil region	1107	1133	N/A	INTRINSIC
coiled coil region	1159	1189	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132893

SMART Domains

Protein: ENSMUSP00000118419
Gene: ENSMUSG00000023764

Domain	Start	End	E-Value	Type
low complexity region	210	223	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138126

Predicted Effect

probably benign
Transcript: ENSMUST00000140846

SMART Domains

Protein: ENSMUSP00000119905
Gene: ENSMUSG00000023764

Domain	Start	End	E-Value	Type
internal_repeat_1	3	301	3.65e-15	PROSPERO
internal_repeat_2	12	320	8.53e-7	PROSPERO
internal_repeat_1	301	599	3.65e-15	PROSPERO
internal_repeat_2	443	755	8.53e-7	PROSPERO
low complexity region	760	772	N/A	INTRINSIC
low complexity region	800	811	N/A	INTRINSIC
coiled coil region	1026	1052	N/A	INTRINSIC
coiled coil region	1078	1108	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141422

Predicted Effect

probably benign
Transcript: ENSMUST00000142315

SMART Domains

Protein: ENSMUSP00000118364
Gene: ENSMUSG00000023764

Domain	Start	End	E-Value	Type
low complexity region	64	77	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144778

Predicted Effect

probably benign
Transcript: ENSMUST00000153425

SMART Domains

Protein: ENSMUSP00000121719
Gene: ENSMUSG00000023764

Domain	Start	End	E-Value	Type
internal_repeat_1	67	288	6.06e-9	PROSPERO
internal_repeat_3	69	314	2.4e-5	PROSPERO
internal_repeat_2	93	340	2.83e-6	PROSPERO
low complexity region	342	358	N/A	INTRINSIC
internal_repeat_1	397	620	6.06e-9	PROSPERO
internal_repeat_2	493	744	2.83e-6	PROSPERO
internal_repeat_3	531	799	2.4e-5	PROSPERO
low complexity region	810	822	N/A	INTRINSIC
low complexity region	850	861	N/A	INTRINSIC
coiled coil region	1076	1102	N/A	INTRINSIC
coiled coil region	1128	1158	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155763

Coding Region Coverage

1x: 99.4%
3x: 97.8%
10x: 90.3%
20x: 69.2%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,876,718	S14P	probably damaging	Het
Ablim2	T	C	5: 35,809,261	F178S	probably damaging	Het
Alg10b	T	C	15: 90,227,865	F304S	possibly damaging	Het
Ank3	C	T	10: 69,882,539	S540F	probably damaging	Het
Arhgef16	T	C	4: 154,280,889	N590D	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Cfap58	C	T	19: 47,988,504	H731Y	probably damaging	Het
Cilp	T	A	9: 65,280,316	L1231Q	possibly damaging	Het
Cyp4x1	A	G	4: 115,126,555		probably benign	Het
Disp2	G	A	2: 118,806,418		probably null	Het
Dnah5	T	C	15: 28,421,690	L3896P	probably damaging	Het
Dpp8	T	C	9: 65,053,832		probably null	Het
Esp4	A	C	17: 40,602,371	N43T	probably benign	Het
Fat3	T	C	9: 15,996,774	D2644G	probably damaging	Het
Fgd5	A	G	6: 91,987,631	K124E	probably benign	Het
Folh1	T	C	7: 86,761,730	D268G	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Hexdc	A	G	11: 121,221,267	I438V	probably benign	Het
Lonp2	A	G	8: 86,636,540	E262G	probably benign	Het
Ly6h	G	T	15: 75,565,172	S118R	unknown	Het
Mapk12	T	C	15: 89,134,623	Y203C	probably damaging	Het
Mapk15	A	G	15: 75,998,155	T375A	probably benign	Het
Morc2a	A	G	11: 3,678,557	N337D	probably benign	Het
Nsd3	A	G	8: 25,713,380	D1307G	probably benign	Het
Olfr1009	C	A	2: 85,722,276	Y290*	probably null	Het
Osbpl11	T	C	16: 33,227,212	F515S	probably damaging	Het
Pcdh15	T	C	10: 74,170,560	V90A	probably damaging	Het
Ptpn4	T	C	1: 119,684,540	D41G	probably damaging	Het
Ric1	T	C	19: 29,579,849	Y445H	probably benign	Het
Sez6l2	C	A	7: 126,961,812	P483Q	probably damaging	Het
Sgo2b	A	G	8: 63,926,855	L981P	probably damaging	Het
Sh3d19	A	G	3: 86,107,327	D475G	possibly damaging	Het
Shprh	T	C	10: 11,213,482	S1655P	possibly damaging	Het
Slc25a12	G	A	2: 71,312,568		probably benign	Het
Strc	A	G	2: 121,372,077		probably benign	Het
Ttc22	G	A	4: 106,623,031	V161M	probably damaging	Het
Unc79	T	C	12: 103,112,667	L1504P	probably damaging	Het
Vldlr	A	G	19: 27,241,291	N514S	probably benign	Het

Other mutations in Sfi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Sfi1	APN	11	3134337	missense	probably benign	0.05
IGL00990:Sfi1	APN	11	3135671	missense	probably damaging	0.99
IGL00990:Sfi1	APN	11	3143689	splice site	probably benign
IGL03147:Sfi1	UTSW	11	3186080	missense	possibly damaging	0.94
R0081:Sfi1	UTSW	11	3146254	frame shift	probably null
R0082:Sfi1	UTSW	11	3146254	frame shift	probably null
R0118:Sfi1	UTSW	11	3177419	critical splice donor site	probably benign
R0197:Sfi1	UTSW	11	3146254	frame shift	probably null
R0241:Sfi1	UTSW	11	3177419	critical splice donor site	probably benign
R0241:Sfi1	UTSW	11	3177419	critical splice donor site	probably benign
R0242:Sfi1	UTSW	11	3177419	critical splice donor site	probably benign
R0816:Sfi1	UTSW	11	3146254	frame shift	probably null
R1147:Sfi1	UTSW	11	3177419	critical splice donor site	probably benign
R1148:Sfi1	UTSW	11	3146254	frame shift	probably null
R1185:Sfi1	UTSW	11	3146254	frame shift	probably null
R1185:Sfi1	UTSW	11	3177419	critical splice donor site	probably benign
R1207:Sfi1	UTSW	11	3146254	frame shift	probably null
R1207:Sfi1	UTSW	11	3146255	frame shift	probably null
R1207:Sfi1	UTSW	11	3177419	critical splice donor site	probably benign
R1403:Sfi1	UTSW	11	3146254	frame shift	probably null
R1403:Sfi1	UTSW	11	3177419	critical splice donor site	probably benign
R1404:Sfi1	UTSW	11	3146254	frame shift	probably null
R1404:Sfi1	UTSW	11	3177419	critical splice donor site	probably benign
R1405:Sfi1	UTSW	11	3146254	frame shift	probably null
R1405:Sfi1	UTSW	11	3177419	critical splice donor site	probably benign
R1465:Sfi1	UTSW	11	3146254	frame shift	probably null
R1469:Sfi1	UTSW	11	3177419	critical splice donor site	probably benign
R1470:Sfi1	UTSW	11	3146254	frame shift	probably null
R1470:Sfi1	UTSW	11	3146255	frame shift	probably null
R1574:Sfi1	UTSW	11	3146254	frame shift	probably null
R2871:Sfi1	UTSW	11	3177419	critical splice donor site	probably benign
R5228:Sfi1	UTSW	11	3153384	intron	probably benign
R5276:Sfi1	UTSW	11	3153384	intron	probably benign
R5298:Sfi1	UTSW	11	3153384	intron	probably benign
R5343:Sfi1	UTSW	11	3153384	intron	probably benign
R5376:Sfi1	UTSW	11	3153384	intron	probably benign
R5384:Sfi1	UTSW	11	3153382	intron	probably benign
R5385:Sfi1	UTSW	11	3153382	intron	probably benign
R5386:Sfi1	UTSW	11	3153384	intron	probably benign
R5411:Sfi1	UTSW	11	3153384	intron	probably benign
R5431:Sfi1	UTSW	11	3153384	intron	probably benign
R5795:Sfi1	UTSW	11	3153384	intron	probably benign
R5808:Sfi1	UTSW	11	3153384	intron	probably benign
R7536:Sfi1	UTSW	11	3153382	intron	probably benign
R7642:Sfi1	UTSW	11	3153382	intron	probably benign
R8111:Sfi1	UTSW	11	3146254	frame shift	probably null

Predicted Primers

Posted On

2014-01-15