Mutagenetix > Incidental Mutation

Incidental Mutation 'R1404:Sfi1'

160499

Institutional Source

Beutler Lab

Gene Symbol

Sfi1

Ensembl Gene

ENSMUSG00000023764

Gene Name

Sfi1 homolog, spindle assembly associated (yeast)

Synonyms

MMRRC Submission

039466-MU

Accession Numbers

Essential gene?

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

Stock #

R1404 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

3131850-3193463 bp(-) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

TCGC to TC at 3146254 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 null
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 null
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 null
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 null
Transcript: ENSMUST00000126746

SMART Domains

Protein: ENSMUSP00000122002
Gene: ENSMUSG00000023764

Domain	Start	End	E-Value	Type
low complexity region	73	89	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131021

Predicted Effect

probably null
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: ENSMUST00000133882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138126

Predicted Effect

probably null
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: ENSMUST00000144359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146888

Predicted Effect

probably null
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: 99.0%
3x: 96.4%
10x: 81.1%
20x: 48.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arrdc3	A	G	13: 80,883,854	T69A	probably damaging	Het
Bbs2	T	C	8: 94,081,999	K360R	probably null	Het
Cdh8	A	T	8: 99,279,618	N112K	probably damaging	Het
Ces5a	A	T	8: 93,502,181	F474I	probably damaging	Het
Doxl2	A	T	6: 48,975,833	T231S	probably benign	Het
Dync1i1	G	A	6: 5,915,876	D253N	probably damaging	Het
Fam151b	T	C	13: 92,473,972	D103G	probably damaging	Het
Fam227b	A	G	2: 126,003,839	L410P	probably damaging	Het
Gm17535	A	G	9: 3,035,804	Y224C	probably null	Het
Ihh	A	T	1: 74,951,213	M1K	probably null	Het
Itga6	A	G	2: 71,838,716	T617A	probably benign	Het
Itpr1	T	A	6: 108,386,648	C744S	probably benign	Het
Kif5a	T	C	10: 127,245,442	I208V	probably benign	Het
Lama4	A	G	10: 39,061,391	K659R	probably benign	Het
Lpin3	T	A	2: 160,892,390		probably null	Het
Macf1	T	A	4: 123,376,516	E6612V	probably damaging	Het
Ncdn	T	C	4: 126,750,040	K330E	probably benign	Het
Neb	C	T	2: 52,183,275	D1975N	possibly damaging	Het
Nell1	T	A	7: 50,853,873	N675K	possibly damaging	Het
Nlrp6	GAGAAGAAGAAGAAGAAGAAGA	GAGAAGAAGAAGAAGAAGA	7: 140,924,113		probably benign	Het
Olfr1317	G	A	2: 112,142,623	R226H	probably benign	Het
Rnf43	A	G	11: 87,734,177	E737G	possibly damaging	Het
Sardh	C	A	2: 27,239,461	W275L	probably damaging	Het
Sipa1l2	G	A	8: 125,449,973	H1185Y	probably damaging	Het
Skp2	G	A	15: 9,116,925	Q298*	probably null	Het
Stk4	C	T	2: 164,100,528	T360M	probably benign	Het
Stx12	T	A	4: 132,871,649	I43L	probably benign	Het
Tmc1	T	A	19: 20,816,184	I538F	possibly damaging	Het
Tollip	T	C	7: 141,884,555	M209V	probably benign	Het
Ttn	A	T	2: 76,812,968	S13202R	probably damaging	Het
Vmn2r60	T	A	7: 42,136,787	V338D	probably damaging	Het
Vwa8	T	C	14: 79,026,031	L767P	probably damaging	Het
Zfp202	C	T	9: 40,211,496	T518I	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	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
R9385:Sfi1	UTSW	11	3153382	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

PCR Primer
(F):5'- GTCCCAGGAGAAAGTACCGGCTAA -3'
(R):5'- ACCTAGCAAACTGGTGAAGATCAAACAT -3'

Sequencing Primer
(F):5'- TGAGATCAAAAGGCCCTCATTCTG -3'
(R):5'- CAAACATAACACTTCATTCTGTTCC -3'

Posted On

2014-03-14