Mutagenetix > Incidental Mutations

Incidental Mutation 'R1160:Usf3'

100359

Institutional Source

Beutler Lab

Gene Symbol

Usf3

Ensembl Gene

ENSMUSG00000068284

Gene Name

upstream transcription factor family member 3

Synonyms

LOC207806, Gm608, LOC385650, 5530400K22Rik

MMRRC Submission

039233-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

R1160 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44173246-44227465 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44218547 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1130 (I1130N)

Ref Sequence

ENSEMBL: ENSMUSP00000128627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119746] [ENSMUST00000169582]

Predicted Effect

probably damaging
Transcript: ENSMUST00000119746
AA Change: I1130N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: I1130N

Domain	Start	End	E-Value	Type
HLH	24	75	4.26e-9	SMART
low complexity region	151	162	N/A	INTRINSIC
low complexity region	246	262	N/A	INTRINSIC
low complexity region	367	379	N/A	INTRINSIC
low complexity region	399	413	N/A	INTRINSIC
low complexity region	571	587	N/A	INTRINSIC
low complexity region	765	782	N/A	INTRINSIC
low complexity region	950	969	N/A	INTRINSIC
low complexity region	1084	1100	N/A	INTRINSIC
low complexity region	1370	1382	N/A	INTRINSIC
low complexity region	1419	1437	N/A	INTRINSIC
low complexity region	1527	1555	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141015

Predicted Effect

probably damaging
Transcript: ENSMUST00000169582
AA Change: I1130N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: I1130N

Domain	Start	End	E-Value	Type
HLH	24	75	4.26e-9	SMART
low complexity region	151	162	N/A	INTRINSIC
low complexity region	246	262	N/A	INTRINSIC
low complexity region	367	379	N/A	INTRINSIC
low complexity region	399	413	N/A	INTRINSIC
low complexity region	571	587	N/A	INTRINSIC
low complexity region	765	782	N/A	INTRINSIC
low complexity region	950	969	N/A	INTRINSIC
low complexity region	1084	1100	N/A	INTRINSIC
low complexity region	1370	1382	N/A	INTRINSIC
low complexity region	1419	1437	N/A	INTRINSIC
low complexity region	1527	1555	N/A	INTRINSIC

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.7%
20x: 81.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	C	A	3: 88,708,862	P452Q	probably damaging	Het
Agap1	G	T	1: 89,843,154	K622N	probably damaging	Het
Ap3b2	A	T	7: 81,466,169		probably null	Het
Arl5b	T	C	2: 15,069,837	V43A	probably benign	Het
Astn1	T	C	1: 158,600,365	V702A	possibly damaging	Het
Bach1	T	C	16: 87,715,434	V15A	probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Ccar2	C	T	14: 70,139,769	V774M	probably benign	Het
Dcaf5	T	C	12: 80,340,215	D379G	possibly damaging	Het
Dcpp1	T	A	17: 23,881,431	I45K	possibly damaging	Het
Ddx17	T	A	15: 79,541,087	S128C	probably damaging	Het
Eml3	A	G	19: 8,933,250	N192S	probably benign	Het
Epha3	T	G	16: 63,773,068	D219A	probably damaging	Het
Fhod3	C	T	18: 24,985,236	A210V	probably damaging	Het
Klhl5	A	G	5: 65,141,340	N154S	probably benign	Het
Lrif1	A	G	3: 106,732,717	N373D	possibly damaging	Het
Map3k20	A	G	2: 72,441,520	N664S	probably benign	Het
Olfr625-ps1	A	G	7: 103,682,861	N38D	possibly damaging	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Pglyrp4	T	A	3: 90,728,831		probably null	Het
Pole	A	G	5: 110,295,253	E349G	possibly damaging	Het
Ptprj	A	G	2: 90,444,524	Y1165H	probably damaging	Het
Rasd1	T	A	11: 59,964,721	I29F	possibly damaging	Het
Scamp3	T	C	3: 89,181,198	F237S	probably damaging	Het
Sccpdh	T	G	1: 179,684,210	D82E	probably benign	Het
Slc19a3	A	C	1: 83,022,692	H201Q	possibly damaging	Het
Slc5a4a	G	A	10: 76,178,161	A401T	possibly damaging	Het
Snupn	T	G	9: 56,957,105	C29W	probably benign	Het
Sorbs2	A	G	8: 45,770,576	Y222C	probably damaging	Het
Sox17	A	T	1: 4,491,852	V310E	probably damaging	Het
Srgap1	T	A	10: 121,855,477	Y284F	probably benign	Het
Srpk1	C	A	17: 28,599,774	V363F	probably benign	Het
Syt13	T	A	2: 92,943,042		probably null	Het
Taf2	A	G	15: 55,071,397	V45A	probably benign	Het
Tal1	A	T	4: 115,068,616	D294V	probably damaging	Het
Tbl2	A	G	5: 135,159,392	T347A	probably benign	Het
Tet3	A	G	6: 83,404,452	S110P	probably benign	Het
Tmem132a	A	G	19: 10,858,574	V864A	probably damaging	Het
Trak1	T	C	9: 121,392,007	I80T	probably benign	Het
Trappc6b	G	A	12: 59,050,278	T86I	probably damaging	Het
Xirp2	T	C	2: 67,509,887	V824A	possibly damaging	Het
Zfp810	T	C	9: 22,278,532	Y360C	possibly damaging	Het
Zmiz1	T	A	14: 25,654,512	V685E	probably damaging	Het
Zp2	A	T	7: 120,136,045	D368E	probably damaging	Het

Other mutations in Usf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01361:Usf3	APN	16	44212637	splice site	probably null
IGL01971:Usf3	APN	16	44217446	unclassified	probably null
IGL01982:Usf3	APN	16	44218817	missense	possibly damaging	0.89
IGL02124:Usf3	APN	16	44219656	missense	possibly damaging	0.82
IGL02309:Usf3	APN	16	44200663	missense	probably benign	0.20
IGL02454:Usf3	APN	16	44217182	missense	probably damaging	1.00
IGL02526:Usf3	APN	16	44220311	missense	possibly damaging	0.89
IGL02671:Usf3	APN	16	44221781	missense	probably damaging	1.00
IGL02800:Usf3	APN	16	44219096	missense	probably benign	0.00
IGL02899:Usf3	APN	16	44221226	missense	probably damaging	1.00
IGL03223:Usf3	APN	16	44216450	missense	probably damaging	1.00
I1329:Usf3	UTSW	16	44220530	missense	probably damaging	1.00
R0208:Usf3	UTSW	16	44216906	missense	probably damaging	0.98
R0900:Usf3	UTSW	16	44215958	missense	probably benign
R1417:Usf3	UTSW	16	44217449	missense	probably benign	0.00
R1512:Usf3	UTSW	16	44221198	missense	probably damaging	1.00
R1603:Usf3	UTSW	16	44218172	missense	probably benign
R1702:Usf3	UTSW	16	44219632	nonsense	probably null
R1774:Usf3	UTSW	16	44215670	missense	probably damaging	1.00
R2344:Usf3	UTSW	16	44216051	missense	probably benign
R2400:Usf3	UTSW	16	44215747	missense	probably benign	0.04
R2484:Usf3	UTSW	16	44220682	missense	probably damaging	0.99
R2570:Usf3	UTSW	16	44216381	missense	probably benign	0.00
R3730:Usf3	UTSW	16	44218575	missense	probably benign	0.00
R4024:Usf3	UTSW	16	44216165	missense	possibly damaging	0.76
R4451:Usf3	UTSW	16	44217888	missense	possibly damaging	0.76
R4883:Usf3	UTSW	16	44219579	missense	probably damaging	1.00
R4895:Usf3	UTSW	16	44221096	missense	possibly damaging	0.93
R4924:Usf3	UTSW	16	44217355	missense	probably benign
R5020:Usf3	UTSW	16	44215526	missense	probably damaging	1.00
R5034:Usf3	UTSW	16	44216399	missense	probably damaging	1.00
R5053:Usf3	UTSW	16	44217187	missense	probably benign	0.01
R5058:Usf3	UTSW	16	44212707	missense	probably damaging	1.00
R5164:Usf3	UTSW	16	44218180	missense	probably damaging	1.00
R5391:Usf3	UTSW	16	44217463	missense	probably benign	0.01
R5407:Usf3	UTSW	16	44217406	missense	probably benign	0.01
R5536:Usf3	UTSW	16	44217370	missense	probably benign	0.16
R5805:Usf3	UTSW	16	44220746	missense	possibly damaging	0.50
R5966:Usf3	UTSW	16	44220859	missense	probably benign	0.14
R6024:Usf3	UTSW	16	44219840	missense	probably damaging	1.00
R6122:Usf3	UTSW	16	44217307	missense	probably damaging	0.99
R6180:Usf3	UTSW	16	44221105	missense	probably damaging	1.00
R6362:Usf3	UTSW	16	44218577	missense	probably benign	0.01
R6579:Usf3	UTSW	16	44218834	missense	possibly damaging	0.54
R6874:Usf3	UTSW	16	44219740	missense	probably benign	0.00
R7226:Usf3	UTSW	16	44220005	missense	possibly damaging	0.54
R7379:Usf3	UTSW	16	44220576	missense	probably benign	0.33
R7389:Usf3	UTSW	16	44217941	missense	probably benign	0.09
R7452:Usf3	UTSW	16	44220034	missense	probably benign	0.00
R7606:Usf3	UTSW	16	44218943	missense	probably damaging	1.00
R7750:Usf3	UTSW	16	44220521	missense	probably benign	0.15
R7765:Usf3	UTSW	16	44219063	missense	probably benign	0.28
R7830:Usf3	UTSW	16	44219779	nonsense	probably null
R7895:Usf3	UTSW	16	44216202	missense	possibly damaging	0.67
R7978:Usf3	UTSW	16	44216202	missense	possibly damaging	0.67
X0057:Usf3	UTSW	16	44220784	missense	probably benign	0.32
X0066:Usf3	UTSW	16	44220427	missense	probably benign	0.00
Z1176:Usf3	UTSW	16	44220431	missense	not run

Predicted Primers

Posted On

2014-01-15