Mutagenetix > Incidental Mutations

Incidental Mutation 'R5343:Sfi1'

500952

Institutional Source

Beutler Lab

Gene Symbol

Sfi1

Ensembl Gene

ENSMUSG00000023764

Gene Name

Sfi1 homolog, spindle assembly associated (yeast)

Synonyms

MMRRC Submission

042922-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5343 (G1)

Quality Score

179

Status

Not validated

Chromosome

Chromosomal Location

3131850-3193463 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to ATCTTCCCAAAGCCAGTGC at 3153384 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121719 (fasta)

Gene Model

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

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

noncoding transcript
Transcript: ENSMUST00000120853

Predicted Effect

probably benign
Transcript: ENSMUST00000126746

SMART Domains

Protein: ENSMUSP00000122002
Gene: ENSMUSG00000023764

Domain	Start	End	E-Value	Type
low complexity region	73	89	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

noncoding transcript
Transcript: ENSMUST00000144359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156655

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310039H08Rik	C	A	17: 46,773,036	A75E	probably damaging	Het
5730559C18Rik	G	T	1: 136,225,442	H237Q	probably benign	Het
Adck5	G	A	15: 76,595,580	R560H	probably damaging	Het
Ahctf1	A	T	1: 179,770,634	Y964*	probably null	Het
Alg8	T	C	7: 97,386,919	I339T	possibly damaging	Het
Alox5	T	C	6: 116,413,507	D503G	possibly damaging	Het
Camk4	A	G	18: 33,078,069	T76A	probably damaging	Het
Cdh3	T	C	8: 106,552,936	V728A	probably benign	Het
Chd4	T	A	6: 125,120,363	N1326K	probably damaging	Het
Cnn1	A	T	9: 22,105,410	Y48F	probably benign	Het
Dnah6	T	A	6: 73,212,616	E16D	probably benign	Het
Ezh2	A	G	6: 47,576,615	L56S	probably damaging	Het
F13b	T	C	1: 139,510,544	V299A	possibly damaging	Het
Hydin	T	C	8: 110,485,419	S1279P	probably benign	Het
Ift172	T	C	5: 31,263,812	M981V	probably benign	Het
Lpl	T	A	8: 68,895,737	V206E	probably damaging	Het
Mre11a	A	G	9: 14,811,834	D368G	probably damaging	Het
Mreg	G	A	1: 72,160,958	P191L	probably damaging	Het
Mtif2	G	T	11: 29,536,964	A134S	probably damaging	Het
Mxd4	T	C	5: 34,177,730	S114G	probably benign	Het
Myo1b	T	C	1: 51,778,537	Q522R	probably benign	Het
Ncapd3	GGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTG	9: 27,088,053		probably benign	Het
Ninl	T	C	2: 150,971,190	E182G	probably benign	Het
Notch3	T	C	17: 32,143,283	N1456S	probably benign	Het
Npr1	G	T	3: 90,458,208	N648K	possibly damaging	Het
Oas3	A	G	5: 120,756,238	S1016P	possibly damaging	Het
Olfr1499	T	C	19: 13,814,960	N210S	probably damaging	Het
Olfr518	C	T	7: 108,880,998	V203M	possibly damaging	Het
Palld	A	G	8: 61,549,815		probably benign	Het
Patj	T	G	4: 98,676,193	I1021S	probably damaging	Het
Pfpl	T	A	19: 12,428,688	L101Q	probably damaging	Het
Pilrb2	T	A	5: 137,870,966	E124V	possibly damaging	Het
Pomk	A	G	8: 25,983,016	F303S	probably benign	Het
Rap1gap2	A	T	11: 74,441,785	S65T	probably damaging	Het
Sema3a	G	A	5: 13,473,406	C114Y	probably damaging	Het
Spry4	A	T	18: 38,589,975	V245E	probably damaging	Het
Srrt	T	C	5: 137,297,165	Y271C	probably damaging	Het
Tas2r136	A	G	6: 132,778,080	V28A	probably benign	Het
Tenm2	A	G	11: 36,069,503	V998A	probably benign	Het
Trim37	A	G	11: 87,137,603	E46G	probably damaging	Het
Ubiad1	A	G	4: 148,436,435	V244A	possibly damaging	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
R1148:Sfi1	UTSW	11	3177419	critical splice donor site	probably benign
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
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

PCR Primer
(F):5'- CAACATAGTACAGGGTCTAAGGC -3'
(R):5'- ATGAGCGTGAAACCTGGCAG -3'

Sequencing Primer
(F):5'- CAAAGCCGGTGTGTAGTAAGTCTC -3'
(R):5'- CGTGAAACCTGGCAGTATTGATC -3'

Posted On

2017-12-01