Mutagenetix > Incidental Mutation

Incidental Mutation 'R5384:Sfi1'

500958

Institutional Source

Beutler Lab

Gene Symbol

Sfi1

Ensembl Gene

ENSMUSG00000023764

Gene Name

Sfi1 homolog, spindle assembly associated (yeast)

Synonyms

2310047I15Rik

Accession Numbers

Essential gene?

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

Stock #

R5384 (G1)

Quality Score

195

Status

Not validated

Chromosome

Chromosomal Location

3081850-3143463 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

ACA to ACATCTTCCCAAAGCCAGTCA at 3103382 bp (GRCm39)

Zygosity

Homozygous

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,606,496 (GRCm39)	V246A	probably benign	Het
Abcc10	T	C	17: 46,615,361 (GRCm39)	S1343G	possibly damaging	Het
Abcd3	C	A	3: 121,555,059 (GRCm39)		probably null	Het
Actl6a	T	A	3: 32,774,642 (GRCm39)	M335K	probably damaging	Het
Adamts9	A	C	6: 92,774,999 (GRCm39)	C1090W	probably damaging	Het
Ajuba	T	C	14: 54,807,855 (GRCm39)	Y459C	probably damaging	Het
Aldh7a1	T	A	18: 56,667,325 (GRCm39)	N316Y	possibly damaging	Het
Ankhd1	A	G	18: 36,724,548 (GRCm39)	E402G	probably damaging	Het
Ankrd36	A	G	11: 5,639,340 (GRCm39)		probably benign	Het
Apeh	A	T	9: 107,963,662 (GRCm39)	L551H	probably damaging	Het
Avpr1a	T	A	10: 122,285,274 (GRCm39)	F189I	probably damaging	Het
BC034090	T	A	1: 155,117,773 (GRCm39)	H115L	possibly damaging	Het
C4b	A	T	17: 34,956,635 (GRCm39)	D654E	possibly damaging	Het
Carns1	T	A	19: 4,221,900 (GRCm39)		probably null	Het
Ccdc146	T	A	5: 21,513,711 (GRCm39)	E469V	probably benign	Het
Cdc27	A	G	11: 104,397,966 (GRCm39)	I804T	probably benign	Het
Cdh23	G	A	10: 60,173,541 (GRCm39)	T1651I	probably damaging	Het
Cenpo	G	A	12: 4,266,646 (GRCm39)	P154L	probably damaging	Het
Cenpu	G	A	8: 47,015,534 (GRCm39)	G150R	probably benign	Het
Chrna10	C	A	7: 101,763,560 (GRCm39)	L78F	probably damaging	Het
Chrne	A	T	11: 70,505,913 (GRCm39)	N457K	possibly damaging	Het
Cidea	A	T	18: 67,493,236 (GRCm39)	D85V	probably damaging	Het
Cldn18	T	C	9: 99,591,911 (GRCm39)	S31G	possibly damaging	Het
Clpb	T	A	7: 101,428,548 (GRCm39)	I436N	probably damaging	Het
Col11a2	T	C	17: 34,278,148 (GRCm39)		probably null	Het
Cul7	T	C	17: 46,965,403 (GRCm39)	V527A	probably benign	Het
Dchs1	A	C	7: 105,407,236 (GRCm39)	V2119G	probably damaging	Het
Dchs1	T	A	7: 105,421,262 (GRCm39)	D386V	probably damaging	Het
Dcstamp	A	C	15: 39,622,715 (GRCm39)	Q345H	probably damaging	Het
Dlgap3	A	G	4: 127,130,123 (GRCm39)	I955V	probably damaging	Het
Dvl1	A	G	4: 155,938,143 (GRCm39)	D97G	probably damaging	Het
Dync2h1	T	C	9: 7,016,791 (GRCm39)	D3573G	probably damaging	Het
Efr3b	G	T	12: 4,033,419 (GRCm39)	F129L	probably benign	Het
Etaa1	G	A	11: 17,897,539 (GRCm39)	L193F	probably damaging	Het
Fam13c	G	A	10: 70,388,899 (GRCm39)	S474N	probably benign	Het
Fam171a2	C	A	11: 102,328,693 (GRCm39)	V689L	possibly damaging	Het
Fastkd3	T	C	13: 68,732,704 (GRCm39)	F342L	probably benign	Het
Fat4	T	C	3: 39,050,095 (GRCm39)	S3986P	possibly damaging	Het
Fbxo38	A	G	18: 62,674,042 (GRCm39)	M13T	probably benign	Het
Fbxo48	G	T	11: 16,904,329 (GRCm39)	L160F	possibly damaging	Het
Fgr	G	A	4: 132,713,664 (GRCm39)		probably null	Het
Gbx2	T	C	1: 89,856,635 (GRCm39)	T252A	probably damaging	Het
Gm20671	A	G	5: 32,977,286 (GRCm39)	S1823P	probably damaging	Het
Gpatch8	A	T	11: 102,399,053 (GRCm39)		probably null	Het
Gsdma	A	T	11: 98,557,275 (GRCm39)		probably null	Het
Gucy2g	G	A	19: 55,203,548 (GRCm39)	A750V	probably damaging	Het
Hdac9	A	G	12: 34,479,557 (GRCm39)	Y223H	probably damaging	Het
Igsf5	C	A	16: 96,192,226 (GRCm39)	T275N	probably benign	Het
Il23r	G	A	6: 67,463,275 (GRCm39)	H73Y	probably benign	Het
Ipo4	G	T	14: 55,863,653 (GRCm39)	R1026S	probably benign	Het
Jade1	T	A	3: 41,546,137 (GRCm39)	I54N	probably damaging	Het
Khdrbs1	G	T	4: 129,635,729 (GRCm39)	D75E	possibly damaging	Het
Lrwd1	A	T	5: 136,152,728 (GRCm39)	D511E	possibly damaging	Het
Ly75	A	T	2: 60,164,831 (GRCm39)	C782*	probably null	Het
Mmp3	C	T	9: 7,451,759 (GRCm39)	R366*	probably null	Het
Mrgpra6	A	G	7: 46,838,629 (GRCm39)	C190R	probably damaging	Het
Mtcl3	A	G	10: 29,072,766 (GRCm39)	D686G	probably benign	Het
Myh10	T	A	11: 68,692,434 (GRCm39)	L1369Q	probably damaging	Het
Myof	C	T	19: 37,941,435 (GRCm39)	A792T	probably damaging	Het
Ncf1	A	G	5: 134,250,659 (GRCm39)	L373P	probably damaging	Het
Ncoa7	C	A	10: 30,598,813 (GRCm39)	A37S	probably benign	Het
Nfkb1	A	G	3: 135,318,303 (GRCm39)	V310A	possibly damaging	Het
Nmur2	T	A	11: 55,931,040 (GRCm39)	I224F	probably damaging	Het
Nr1d2	A	T	14: 18,211,922 (GRCm38)	S394T	probably benign	Het
Nudt12	A	G	17: 59,310,434 (GRCm39)	W390R	probably damaging	Het
Or11g24	T	A	14: 50,662,846 (GRCm39)	V290E	possibly damaging	Het
Or2m13	A	G	16: 19,226,547 (GRCm39)	L73P	probably damaging	Het
Or4a79	T	A	2: 89,551,649 (GRCm39)	I269F	possibly damaging	Het
Or4e1	T	A	14: 52,700,714 (GRCm39)	T251S	probably benign	Het
Or52a20	T	C	7: 103,366,562 (GRCm39)	F254L	probably benign	Het
Pate2	A	G	9: 35,581,837 (GRCm39)	M44V	probably damaging	Het
Pikfyve	T	C	1: 65,283,568 (GRCm39)	L735S	probably damaging	Het
Plce1	C	A	19: 38,748,535 (GRCm39)	N1755K	probably damaging	Het
Pld1	C	A	3: 28,079,469 (GRCm39)	R90S	probably damaging	Het
Pnpla7	C	A	2: 24,931,031 (GRCm39)	P882Q	probably damaging	Het
Pold2	A	G	11: 5,826,760 (GRCm39)	L58P	probably damaging	Het
Ppm1d	A	G	11: 85,202,609 (GRCm39)	E104G	probably damaging	Het
Ppm1e	A	T	11: 87,249,377 (GRCm39)	L118Q	possibly damaging	Het
Ppp1r42	A	G	1: 10,069,660 (GRCm39)	L134P	probably damaging	Het
Prpf8	A	G	11: 75,386,625 (GRCm39)	D1038G	probably damaging	Het
Prss36	C	A	7: 127,535,871 (GRCm39)	R288L	probably damaging	Het
Prss51	T	A	14: 64,334,543 (GRCm39)	V108E	probably damaging	Het
Psma3	G	T	12: 71,021,539 (GRCm39)	G7W	probably damaging	Het
Psmc3ip	A	T	11: 100,983,430 (GRCm39)		probably null	Het
Qser1	T	C	2: 104,616,987 (GRCm39)	E1275G	probably damaging	Het
Rai2	A	G	X: 160,561,636 (GRCm39)	N363S	probably benign	Het
Ranbp17	A	T	11: 33,169,241 (GRCm39)	V991D	possibly damaging	Het
Rcc2	A	T	4: 140,447,877 (GRCm39)	K468*	probably null	Het
S1pr2	T	C	9: 20,878,890 (GRCm39)	T313A	probably benign	Het
Sec1	C	A	7: 45,328,264 (GRCm39)	R261L	probably benign	Het
Sgip1	G	A	4: 102,791,763 (GRCm39)	V362I	possibly damaging	Het
Shroom4	T	A	X: 6,497,523 (GRCm39)	C894*	probably null	Het
Slc12a9	A	T	5: 137,329,276 (GRCm39)	L126Q	probably damaging	Het
Slx4	A	G	16: 3,808,669 (GRCm39)	S424P	probably damaging	Het
Smg5	T	C	3: 88,258,600 (GRCm39)	S524P	probably damaging	Het
Sncaip	A	G	18: 53,018,113 (GRCm39)	D418G	probably damaging	Het
Spata31d1b	C	A	13: 59,866,032 (GRCm39)	T1060K	possibly damaging	Het
Spink6	A	G	18: 44,215,347 (GRCm39)	T66A	probably damaging	Het
Sppl2c	T	A	11: 104,078,127 (GRCm39)	I309K	possibly damaging	Het
Stk39	T	A	2: 68,240,383 (GRCm39)	D116V	probably damaging	Het
Supv3l1	A	T	10: 62,266,375 (GRCm39)	N600K	possibly damaging	Het
Svep1	T	C	4: 58,104,545 (GRCm39)	K1226R	possibly damaging	Het
Syne1	C	T	10: 4,991,494 (GRCm39)	V557I	probably benign	Het
Tas2r117	G	T	6: 132,780,117 (GRCm39)	S85I	probably benign	Het
Tcf20	T	A	15: 82,740,400 (GRCm39)	Q350H	probably damaging	Het
Tep1	A	T	14: 51,105,774 (GRCm39)	L82Q	probably damaging	Het
Tfb2m	A	C	1: 179,373,437 (GRCm39)		probably null	Het
Tm9sf1	C	T	14: 55,880,301 (GRCm39)	G32D	possibly damaging	Het
Tpd52	A	T	3: 8,996,255 (GRCm39)		probably null	Het
Trappc8	A	T	18: 20,966,119 (GRCm39)		probably null	Het
Trbv30	A	G	6: 41,258,854 (GRCm39)	T88A	probably benign	Het
Trim40	T	A	17: 37,199,757 (GRCm39)	N107I	probably damaging	Het
Trim80	A	T	11: 115,338,843 (GRCm39)	T558S	probably benign	Het
Ttn	A	G	2: 76,708,692 (GRCm39)		probably benign	Het
Vav3	A	G	3: 109,434,791 (GRCm39)	M441V	possibly damaging	Het
Vmn1r42	T	A	6: 89,822,366 (GRCm39)	I68F	probably damaging	Het
Vmn2r118	C	T	17: 55,918,565 (GRCm39)	G109D	probably benign	Het
Vmn2r5	T	A	3: 64,416,931 (GRCm39)	M76L	probably benign	Het
Vwa7	G	T	17: 35,243,902 (GRCm39)		probably null	Het
Xndc1	T	C	7: 101,731,395 (GRCm39)	V378A	probably benign	Het
Zc3h12d	A	T	10: 7,729,014 (GRCm39)	D126V	probably damaging	Het
Zc3h13	A	G	14: 75,581,059 (GRCm39)	N1682S	probably benign	Het
Zc3h15	T	C	2: 83,490,574 (GRCm39)	I236T	possibly damaging	Het
Zfp13	A	T	17: 23,800,156 (GRCm39)	I34N	probably damaging	Het
Zfp169	A	T	13: 48,643,751 (GRCm39)	C459S	possibly damaging	Het
Zfyve28	A	G	5: 34,374,311 (GRCm39)	C568R	probably damaging	Het

Other mutations in Sfi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Sfi1	APN	11	3,093,689 (GRCm39)	splice site	probably benign
IGL00990:Sfi1	APN	11	3,084,337 (GRCm39)	missense	probably benign	0.05
IGL00990:Sfi1	APN	11	3,085,671 (GRCm39)	missense	probably damaging	0.99
IGL03147:Sfi1	UTSW	11	3,136,080 (GRCm39)	missense	possibly damaging	0.94
R0081:Sfi1	UTSW	11	3,096,254 (GRCm39)	frame shift	probably null
R0082:Sfi1	UTSW	11	3,096,254 (GRCm39)	frame shift	probably null
R0118:Sfi1	UTSW	11	3,127,419 (GRCm39)	critical splice donor site	probably benign
R0197:Sfi1	UTSW	11	3,096,254 (GRCm39)	frame shift	probably null
R0241:Sfi1	UTSW	11	3,127,419 (GRCm39)	critical splice donor site	probably benign
R0241:Sfi1	UTSW	11	3,127,419 (GRCm39)	critical splice donor site	probably benign
R0242:Sfi1	UTSW	11	3,127,419 (GRCm39)	critical splice donor site	probably benign
R0816:Sfi1	UTSW	11	3,096,254 (GRCm39)	frame shift	probably null
R1147:Sfi1	UTSW	11	3,127,419 (GRCm39)	critical splice donor site	probably benign
R1148:Sfi1	UTSW	11	3,127,419 (GRCm39)	critical splice donor site	probably benign
R1148:Sfi1	UTSW	11	3,096,254 (GRCm39)	frame shift	probably null
R1185:Sfi1	UTSW	11	3,127,419 (GRCm39)	critical splice donor site	probably benign
R1185:Sfi1	UTSW	11	3,096,254 (GRCm39)	frame shift	probably null
R1207:Sfi1	UTSW	11	3,127,419 (GRCm39)	critical splice donor site	probably benign
R1207:Sfi1	UTSW	11	3,096,254 (GRCm39)	frame shift	probably null
R1207:Sfi1	UTSW	11	3,096,255 (GRCm39)	frame shift	probably null
R1403:Sfi1	UTSW	11	3,127,419 (GRCm39)	critical splice donor site	probably benign
R1403:Sfi1	UTSW	11	3,096,254 (GRCm39)	frame shift	probably null
R1404:Sfi1	UTSW	11	3,127,419 (GRCm39)	critical splice donor site	probably benign
R1404:Sfi1	UTSW	11	3,096,254 (GRCm39)	frame shift	probably null
R1405:Sfi1	UTSW	11	3,127,419 (GRCm39)	critical splice donor site	probably benign
R1405:Sfi1	UTSW	11	3,096,254 (GRCm39)	frame shift	probably null
R1465:Sfi1	UTSW	11	3,096,254 (GRCm39)	frame shift	probably null
R1469:Sfi1	UTSW	11	3,127,419 (GRCm39)	critical splice donor site	probably benign
R1470:Sfi1	UTSW	11	3,096,254 (GRCm39)	frame shift	probably null
R1470:Sfi1	UTSW	11	3,096,255 (GRCm39)	frame shift	probably null
R1574:Sfi1	UTSW	11	3,096,254 (GRCm39)	frame shift	probably null
R2871:Sfi1	UTSW	11	3,127,419 (GRCm39)	critical splice donor site	probably benign
R5228:Sfi1	UTSW	11	3,103,384 (GRCm39)	intron	probably benign
R5276:Sfi1	UTSW	11	3,103,384 (GRCm39)	intron	probably benign
R5298:Sfi1	UTSW	11	3,103,384 (GRCm39)	intron	probably benign
R5343:Sfi1	UTSW	11	3,103,384 (GRCm39)	intron	probably benign
R5376:Sfi1	UTSW	11	3,103,384 (GRCm39)	intron	probably benign
R5385:Sfi1	UTSW	11	3,103,382 (GRCm39)	intron	probably benign
R5386:Sfi1	UTSW	11	3,103,384 (GRCm39)	intron	probably benign
R5411:Sfi1	UTSW	11	3,103,384 (GRCm39)	intron	probably benign
R5431:Sfi1	UTSW	11	3,103,384 (GRCm39)	intron	probably benign
R5795:Sfi1	UTSW	11	3,103,384 (GRCm39)	intron	probably benign
R5808:Sfi1	UTSW	11	3,103,384 (GRCm39)	intron	probably benign
R7536:Sfi1	UTSW	11	3,103,382 (GRCm39)	intron	probably benign
R7642:Sfi1	UTSW	11	3,103,382 (GRCm39)	intron	probably benign
R8111:Sfi1	UTSW	11	3,096,254 (GRCm39)	frame shift	probably null
R8891:Sfi1	UTSW	11	3,103,384 (GRCm39)	intron	probably benign
R8977:Sfi1	UTSW	11	3,103,382 (GRCm39)	intron	probably benign
R9118:Sfi1	UTSW	11	3,103,382 (GRCm39)	intron	probably benign
R9170:Sfi1	UTSW	11	3,103,384 (GRCm39)	intron	probably benign
R9385:Sfi1	UTSW	11	3,103,382 (GRCm39)	intron	probably benign
R9559:Sfi1	UTSW	11	3,103,382 (GRCm39)	intron	probably benign
R9560:Sfi1	UTSW	11	3,103,382 (GRCm39)	intron	probably benign
R9715:Sfi1	UTSW	11	3,103,382 (GRCm39)	intron	probably benign
Z1186:Sfi1	UTSW	11	3,103,382 (GRCm39)	intron	probably benign

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