Mutagenetix > Incidental Mutation

Incidental Mutation 'R9385:Sfi1'

710272

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 #

R9385 (G1)

Quality Score

207.468

Status

Not validated

Chromosome

Chromosomal Location

3131850-3193463 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

ACA to ACATCTTCCCAAAGCCAGTCA at 3153382 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121719 (fasta)

Gene Model

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

AlphaFold

Q3UZY0

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,161,192	I554T	possibly damaging	Het
4930435E12Rik	T	G	16: 38,828,045	D234A	probably benign	Het
Adamts7	C	A	9: 90,195,205	C1308*	probably null	Het
Ank2	A	G	3: 126,959,717	V305A	probably benign	Het
Apob	A	G	12: 8,006,399	N1627S	possibly damaging	Het
Atp10a	A	T	7: 58,828,139	Q1310L	probably benign	Het
Atp8b4	A	T	2: 126,480,631	Y29*	probably null	Het
Card11	C	A	5: 140,885,521	R742S	probably benign	Het
Ccdc88a	A	G	11: 29,455,422	D365G	probably benign	Het
Ccdc88b	G	A	19: 6,856,165	R211W	probably benign	Het
Cda	T	G	4: 138,351,287	I55L	probably benign	Het
Cdkl3	A	C	11: 52,035,952	E577D	probably benign	Het
Cel	T	C	2: 28,560,575	D146G	probably damaging	Het
Cmya5	A	G	13: 93,094,372	S1403P	probably damaging	Het
Cntn2	G	A	1: 132,528,174	S202L	probably damaging	Het
Col15a1	C	T	4: 47,300,473	Q1045*	probably null	Het
Csmd1	T	C	8: 15,984,756	T2472A	probably benign	Het
Ctbp2	G	A	7: 132,999,340	R22C	probably benign	Het
Ddit4	A	G	10: 59,951,356	S53P	probably damaging	Het
Ddx52	G	T	11: 83,952,270	C365F	probably damaging	Het
Dnhd1	C	A	7: 105,712,765	L3677I	probably damaging	Het
Dscam	T	C	16: 97,039,003	T135A	probably benign	Het
Espl1	T	A	15: 102,298,750	D216E	probably damaging	Het
Fsip2	T	A	2: 82,989,449	D5175E	possibly damaging	Het
Fxr1	A	G	3: 34,019,971		probably benign	Het
Fyb	A	G	15: 6,634,816	D460G	probably benign	Het
Gm3264	T	C	14: 4,871,178	I8T	possibly damaging	Het
Gm35339	A	G	15: 76,356,167	T352A		Het
Gsdmc	A	T	15: 63,803,637	Y110N	possibly damaging	Het
H13	A	G	2: 152,695,493	N286S	probably benign	Het
Heatr1	A	G	13: 12,406,542	D441G	probably damaging	Het
Hist1h2aa	A	T	13: 23,934,696	I79F	probably damaging	Het
Hps6	A	G	19: 46,005,910	D762G	probably damaging	Het
Hyou1	C	A	9: 44,381,515	Q141K	probably benign	Het
Lpin3	T	C	2: 160,897,073	I267T	probably benign	Het
Mdc1	A	G	17: 35,850,504	K770E	probably benign	Het
Mlh3	C	T	12: 85,269,370	R14H	probably damaging	Het
Nfxl1	C	A	5: 72,537,407	V478F	probably benign	Het
Nhlrc3	A	G	3: 53,453,594	W247R	probably damaging	Het
Nlrc3	C	T	16: 3,964,012	G527D	probably damaging	Het
Nop9	A	G	14: 55,751,127	E342G	probably benign	Het
Ntn1	C	A	11: 68,385,187	G312C	probably damaging	Het
Olfr288	C	T	15: 98,187,605	S64N	probably damaging	Het
Olfr474	T	A	7: 107,955,573	*311K	probably null	Het
Opcml	T	C	9: 28,675,163	V59A	possibly damaging	Het
Opn1sw	T	G	6: 29,379,426	Y193S	probably damaging	Het
Pabpc4l	A	T	3: 46,446,702	V169E	probably damaging	Het
Pde3a	A	G	6: 141,492,256	D1017G	probably benign	Het
Plagl2	C	T	2: 153,232,318	C221Y	probably damaging	Het
Plppr4	G	T	3: 117,322,728	N493K	possibly damaging	Het
Plxna2	T	C	1: 194,749,416	V571A	possibly damaging	Het
Pnma2	A	G	14: 66,915,922		probably benign	Het
Rnf123	T	A	9: 108,052,268	E1234D	probably benign	Het
Slc22a23	T	C	13: 34,344,578	S74G	probably benign	Het
Slc36a4	T	C	9: 15,734,267	I330T	probably damaging	Het
Snrk	A	T	9: 122,166,397	D414V	probably benign	Het
Snrnp200	G	A	2: 127,238,058		probably null	Het
Spata31d1b	T	C	13: 59,715,589	S184P	probably damaging	Het
Tas2r140	A	T	6: 133,055,278	N172K	probably benign	Het
Tbc1d4	G	T	14: 101,462,920	Q858K	probably damaging	Het
Tial1	A	G	7: 128,442,485	C102R	unknown	Het
Ugt8a	A	T	3: 125,871,614	D411E	probably benign	Het
Usp34	A	G	11: 23,449,223	D2404G		Het
Vmn1r10	A	C	6: 57,113,848	I142L	probably benign	Het
Wdr66	T	C	5: 123,288,815	L919S	probably damaging	Het
Xpo7	A	T	14: 70,688,293	D435E	probably damaging	Het
Zmym1	A	G	4: 127,058,890	S33P	probably 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
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
R8891:Sfi1	UTSW	11	3153384	intron	probably benign
R8977:Sfi1	UTSW	11	3153382	intron	probably benign
R9118:Sfi1	UTSW	11	3153382	intron	probably benign
R9170:Sfi1	UTSW	11	3153384	intron	probably benign
R9559:Sfi1	UTSW	11	3153382	intron	probably benign
R9560:Sfi1	UTSW	11	3153382	intron	probably benign
R9715:Sfi1	UTSW	11	3153382	intron	probably benign
Z1186:Sfi1	UTSW	11	3153382	intron	probably benign

Predicted Primers

Posted On

2022-04-18