Mutagenetix > Incidental Mutations

Incidental Mutation 'R5808:Sfi1'

501569

Institutional Source

Beutler Lab

Gene Symbol

Sfi1

Ensembl Gene

ENSMUSG00000023764

Gene Name

Sfi1 homolog, spindle assembly associated (yeast)

Synonyms

Accession Numbers

Is this an essential gene?

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

Stock #

R5808 (G1)

Quality Score

192

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: 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

noncoding transcript
Transcript: ENSMUST00000156655

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	T	10: 76,450,648	R6W	probably damaging	Het
9130019O22Rik	A	T	7: 127,384,913		probably benign	Het
Ahnak	T	A	19: 9,010,235	V2961E	possibly damaging	Het
Aldh1a7	A	T	19: 20,708,197	Y330N	possibly damaging	Het
Bag6	A	G	17: 35,146,322	Y1041C	probably damaging	Het
Baz1b	T	A	5: 135,221,958	V866E	probably benign	Het
Bmpr2	A	T	1: 59,867,401	Y551F	probably benign	Het
Cage1	A	G	13: 38,022,325		probably benign	Het
Caskin2	G	T	11: 115,801,763	P732Q	probably damaging	Het
Cbfa2t2	T	C	2: 154,517,826		probably null	Het
Ccdc162	A	T	10: 41,655,504	M502K	possibly damaging	Het
Cfap157	T	C	2: 32,780,645	D197G	probably damaging	Het
CN725425	T	A	15: 91,245,644	S237T	probably benign	Het
Defb40	T	C	8: 18,975,079	H37R	probably benign	Het
Dis3l2	A	C	1: 87,049,638	S836R	possibly damaging	Het
Dnah14	T	C	1: 181,741,159	I2818T	possibly damaging	Het
Dpysl2	T	A	14: 66,865,172		probably null	Het
Dsc1	A	T	18: 20,086,829	C761*	probably null	Het
Dsg1b	A	T	18: 20,408,725	D763V	probably damaging	Het
Eif2ak1	C	T	5: 143,883,994	P251L	probably benign	Het
Epha6	A	T	16: 59,682,742	I934K	probably damaging	Het
Fbxo40	T	C	16: 36,970,382	E122G	probably damaging	Het
Filip1	C	T	9: 79,818,701	G879R	possibly damaging	Het
Frem2	A	T	3: 53,652,563	F1508I	probably damaging	Het
Gja1	A	G	10: 56,388,498	N318D	probably benign	Het
Gm11564	T	C	11: 99,815,041	S188G	unknown	Het
Hlcs	A	G	16: 94,262,632	V523A	probably benign	Het
Kif1a	C	A	1: 93,042,698	E1041D	probably damaging	Het
Lamtor1	A	G	7: 101,910,082	Y81C	possibly damaging	Het
Loxl1	A	G	9: 58,294,449	L453S	probably damaging	Het
Mcf2l	A	G	8: 12,993,937	M1V	probably null	Het
Megf6	A	G	4: 154,267,662	Q1208R	probably benign	Het
Morc2a	T	A	11: 3,683,781	I631N	probably benign	Het
Muc6	T	C	7: 141,640,093		probably benign	Het
Mybpc1	T	C	10: 88,570,566	S139G	possibly damaging	Het
Myo18a	T	C	11: 77,829,301	F1017L	probably benign	Het
Nup62	A	C	7: 44,829,992	Q477P	possibly damaging	Het
P2ry13	T	A	3: 59,210,232	I42F	probably benign	Het
Ptprb	G	A	10: 116,339,487	R1129K	probably benign	Het
Rexo4	T	A	2: 26,964,185	K45I	probably damaging	Het
Rnf213	G	A	11: 119,436,295	V1703I	probably benign	Het
Sec23ip	C	A	7: 128,772,184	A710E	probably benign	Het
Slc41a2	T	C	10: 83,313,498	T194A	probably benign	Het
Slc4a10	G	A	2: 62,250,472	A348T	probably damaging	Het
Soat2	G	A	15: 102,154,025		probably null	Het
Srms	T	C	2: 181,208,755	S204G	probably benign	Het
Szt2	G	A	4: 118,372,613	R2774C	unknown	Het
Tcf7l2	T	C	19: 55,908,541	V182A	probably damaging	Het
Tmem167b	C	T	3: 108,560,243	R29H	probably benign	Het
Trappc12	T	A	12: 28,746,864	D223V	probably damaging	Het
Ttc6	T	A	12: 57,617,611	S383R	possibly damaging	Het
Ubr1	C	T	2: 120,961,092	R137H	possibly damaging	Het
Vmn2r24	T	A	6: 123,815,638	C641*	probably null	Het
Vrk3	A	G	7: 44,759,874	D155G	probably damaging	Het
Xxylt1	T	C	16: 31,050,685	Y199C	probably damaging	Het
Zbtb46	A	T	2: 181,423,570	D262E	probably benign	Het
Zcchc9	A	T	13: 91,800,647	S58T	probably benign	Het
Zfyve16	A	T	13: 92,495,055	L1344*	probably null	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
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
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'- TCAACATAGTACAGGGTCTAAGGC -3'
(R):5'- GCGTGAAACCTGGCAGTATTG -3'

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

Posted On

2017-12-01