Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03223:Usf3'

413703

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usf3

Ensembl Gene

ENSMUSG00000068284

Gene Name

upstream transcription factor family member 3

Synonyms

LOC207806, 5530400K22Rik, Gm608, LOC385650

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.271) question?

Stock #

IGL03223

Quality Score

Status

Chromosome

Chromosomal Location

43993609-44047828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44036813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 431 (T431M)

Ref Sequence

ENSEMBL: ENSMUSP00000128627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088356] [ENSMUST00000119746] [ENSMUST00000169582]

AlphaFold

B2RUQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000088356

SMART Domains

Protein: ENSMUSP00000085694
Gene: ENSMUSG00000068284

Domain	Start	End	E-Value	Type
HLH	24	75	4.26e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119746
AA Change: T431M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: T431M

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: T431M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: T431M

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3b1	T	A	19: 3,965,329 (GRCm39)	H394L	probably damaging	Het
B430306N03Rik	G	A	17: 48,623,896 (GRCm39)	V66I	probably damaging	Het
Btbd10	T	C	7: 112,931,877 (GRCm39)	N175S	probably damaging	Het
Dock4	C	A	12: 40,867,593 (GRCm39)	Q1390K	probably damaging	Het
Eea1	A	C	10: 95,875,473 (GRCm39)	E1248A	probably damaging	Het
Farp2	T	A	1: 93,545,324 (GRCm39)	Y827*	probably null	Het
Gcc2	A	G	10: 58,134,556 (GRCm39)	Y1510C	probably damaging	Het
Igfbp7	A	C	5: 77,497,318 (GRCm39)		probably benign	Het
Il1rapl1	A	C	X: 86,344,341 (GRCm39)	C185G	probably damaging	Het
Itga7	A	G	10: 128,784,680 (GRCm39)		probably benign	Het
Itsn1	T	C	16: 91,702,194 (GRCm39)	V12A	probably benign	Het
Lrrc4	A	T	6: 28,831,469 (GRCm39)	C49S	probably damaging	Het
Lrrc49	T	A	9: 60,595,128 (GRCm39)	K5N	possibly damaging	Het
Myh13	T	C	11: 67,241,068 (GRCm39)	I815T	probably benign	Het
Myh8	T	C	11: 67,174,644 (GRCm39)	I253T	probably damaging	Het
Myo19	A	G	11: 84,801,297 (GRCm39)	T948A	possibly damaging	Het
Nhs	T	A	X: 160,624,902 (GRCm39)	I837F	probably damaging	Het
Or5b113	G	T	19: 13,342,645 (GRCm39)	V218L	probably benign	Het
Or5b98	T	C	19: 12,931,268 (GRCm39)	V105A	probably benign	Het
Pfpl	A	T	19: 12,407,438 (GRCm39)	Q563L	probably damaging	Het
Swt1	A	G	1: 151,255,170 (GRCm39)	M809T	possibly damaging	Het
Tbc1d13	T	A	2: 30,038,648 (GRCm39)	I311N	probably damaging	Het
Tgs1	T	C	4: 3,591,322 (GRCm39)		probably benign	Het
Vdac1	G	A	11: 52,267,482 (GRCm39)	R93H	probably benign	Het
Vmn1r234	G	A	17: 21,449,653 (GRCm39)	G189D	probably damaging	Het
Zfp14	A	G	7: 29,737,858 (GRCm39)	Y376H	probably damaging	Het
Zfp472	T	C	17: 33,196,248 (GRCm39)	C108R	probably benign	Het
Zfp658	A	G	7: 43,216,735 (GRCm39)	E35G	possibly damaging	Het

Other mutations in Usf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01361:Usf3	APN	16	44,033,000 (GRCm39)	splice site	probably null
IGL01971:Usf3	APN	16	44,037,809 (GRCm39)	splice site	probably null
IGL01982:Usf3	APN	16	44,039,180 (GRCm39)	missense	possibly damaging	0.89
IGL02124:Usf3	APN	16	44,040,019 (GRCm39)	missense	possibly damaging	0.82
IGL02309:Usf3	APN	16	44,021,026 (GRCm39)	missense	probably benign	0.20
IGL02454:Usf3	APN	16	44,037,545 (GRCm39)	missense	probably damaging	1.00
IGL02526:Usf3	APN	16	44,040,674 (GRCm39)	missense	possibly damaging	0.89
IGL02671:Usf3	APN	16	44,042,144 (GRCm39)	missense	probably damaging	1.00
IGL02800:Usf3	APN	16	44,039,459 (GRCm39)	missense	probably benign	0.00
IGL02899:Usf3	APN	16	44,041,589 (GRCm39)	missense	probably damaging	1.00
I1329:Usf3	UTSW	16	44,040,893 (GRCm39)	missense	probably damaging	1.00
R0208:Usf3	UTSW	16	44,037,269 (GRCm39)	missense	probably damaging	0.98
R0900:Usf3	UTSW	16	44,036,321 (GRCm39)	missense	probably benign
R1160:Usf3	UTSW	16	44,038,910 (GRCm39)	missense	probably damaging	1.00
R1417:Usf3	UTSW	16	44,037,812 (GRCm39)	missense	probably benign	0.00
R1512:Usf3	UTSW	16	44,041,561 (GRCm39)	missense	probably damaging	1.00
R1603:Usf3	UTSW	16	44,038,535 (GRCm39)	missense	probably benign
R1702:Usf3	UTSW	16	44,039,995 (GRCm39)	nonsense	probably null
R1774:Usf3	UTSW	16	44,036,033 (GRCm39)	missense	probably damaging	1.00
R2344:Usf3	UTSW	16	44,036,414 (GRCm39)	missense	probably benign
R2400:Usf3	UTSW	16	44,036,110 (GRCm39)	missense	probably benign	0.04
R2484:Usf3	UTSW	16	44,041,045 (GRCm39)	missense	probably damaging	0.99
R2570:Usf3	UTSW	16	44,036,744 (GRCm39)	missense	probably benign	0.00
R3730:Usf3	UTSW	16	44,038,938 (GRCm39)	missense	probably benign	0.00
R4024:Usf3	UTSW	16	44,036,528 (GRCm39)	missense	possibly damaging	0.76
R4451:Usf3	UTSW	16	44,038,251 (GRCm39)	missense	possibly damaging	0.76
R4883:Usf3	UTSW	16	44,039,942 (GRCm39)	missense	probably damaging	1.00
R4895:Usf3	UTSW	16	44,041,459 (GRCm39)	missense	possibly damaging	0.93
R4924:Usf3	UTSW	16	44,037,718 (GRCm39)	missense	probably benign
R5020:Usf3	UTSW	16	44,035,889 (GRCm39)	missense	probably damaging	1.00
R5034:Usf3	UTSW	16	44,036,762 (GRCm39)	missense	probably damaging	1.00
R5053:Usf3	UTSW	16	44,037,550 (GRCm39)	missense	probably benign	0.01
R5058:Usf3	UTSW	16	44,033,070 (GRCm39)	missense	probably damaging	1.00
R5164:Usf3	UTSW	16	44,038,543 (GRCm39)	missense	probably damaging	1.00
R5391:Usf3	UTSW	16	44,037,826 (GRCm39)	missense	probably benign	0.01
R5407:Usf3	UTSW	16	44,037,769 (GRCm39)	missense	probably benign	0.01
R5536:Usf3	UTSW	16	44,037,733 (GRCm39)	missense	probably benign	0.16
R5805:Usf3	UTSW	16	44,041,109 (GRCm39)	missense	possibly damaging	0.50
R5966:Usf3	UTSW	16	44,041,222 (GRCm39)	missense	probably benign	0.14
R6024:Usf3	UTSW	16	44,040,203 (GRCm39)	missense	probably damaging	1.00
R6122:Usf3	UTSW	16	44,037,670 (GRCm39)	missense	probably damaging	0.99
R6180:Usf3	UTSW	16	44,041,468 (GRCm39)	missense	probably damaging	1.00
R6362:Usf3	UTSW	16	44,038,940 (GRCm39)	missense	probably benign	0.01
R6579:Usf3	UTSW	16	44,039,197 (GRCm39)	missense	possibly damaging	0.54
R6874:Usf3	UTSW	16	44,040,103 (GRCm39)	missense	probably benign	0.00
R7226:Usf3	UTSW	16	44,040,368 (GRCm39)	missense	possibly damaging	0.54
R7379:Usf3	UTSW	16	44,040,939 (GRCm39)	missense	probably benign	0.33
R7389:Usf3	UTSW	16	44,038,304 (GRCm39)	missense	probably benign	0.09
R7452:Usf3	UTSW	16	44,040,397 (GRCm39)	missense	probably benign	0.00
R7606:Usf3	UTSW	16	44,039,306 (GRCm39)	missense	probably damaging	1.00
R7750:Usf3	UTSW	16	44,040,884 (GRCm39)	missense	probably benign	0.15
R7765:Usf3	UTSW	16	44,039,426 (GRCm39)	missense	probably benign	0.28
R7830:Usf3	UTSW	16	44,040,142 (GRCm39)	nonsense	probably null
R7895:Usf3	UTSW	16	44,036,565 (GRCm39)	missense	possibly damaging	0.67
R7941:Usf3	UTSW	16	44,035,924 (GRCm39)	missense	probably damaging	1.00
R8280:Usf3	UTSW	16	44,038,864 (GRCm39)	missense	probably benign	0.00
R8285:Usf3	UTSW	16	44,041,207 (GRCm39)	missense	probably damaging	1.00
R8421:Usf3	UTSW	16	44,037,572 (GRCm39)	missense	possibly damaging	0.67
R8692:Usf3	UTSW	16	44,040,103 (GRCm39)	missense	probably benign	0.00
R8798:Usf3	UTSW	16	44,040,536 (GRCm39)	missense	probably damaging	0.99
R8824:Usf3	UTSW	16	44,035,976 (GRCm39)	missense	probably benign	0.12
R9123:Usf3	UTSW	16	44,041,030 (GRCm39)	missense	probably benign
R9266:Usf3	UTSW	16	44,040,095 (GRCm39)	missense	probably damaging	0.98
R9335:Usf3	UTSW	16	44,041,936 (GRCm39)	missense	probably damaging	1.00
R9610:Usf3	UTSW	16	44,036,936 (GRCm39)	missense	probably benign	0.00
R9643:Usf3	UTSW	16	44,042,170 (GRCm39)	missense	possibly damaging	0.47
R9780:Usf3	UTSW	16	44,039,181 (GRCm39)	missense	possibly damaging	0.89
R9785:Usf3	UTSW	16	44,041,970 (GRCm39)	missense	probably benign	0.33
X0057:Usf3	UTSW	16	44,041,147 (GRCm39)	missense	probably benign	0.32
X0066:Usf3	UTSW	16	44,040,790 (GRCm39)	missense	probably benign	0.00
Z1176:Usf3	UTSW	16	44,040,794 (GRCm39)	missense	probably benign	0.23

Posted On

2016-08-02