Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02454:Usf3'

293748

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 #

IGL02454

Quality Score

Status

Chromosome

Chromosomal Location

43993609-44047828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44037545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 675 (V675A)

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: V675A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: V675A

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: V675A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: V675A

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amz2	T	G	11: 109,324,887 (GRCm39)		probably benign	Het
Atp13a5	A	G	16: 29,051,560 (GRCm39)	F1104S	probably benign	Het
Cacna1c	T	C	6: 118,579,141 (GRCm39)	N1610S	probably damaging	Het
Ccnl1	A	T	3: 65,864,318 (GRCm39)	D122E	probably damaging	Het
Crtc2	G	A	3: 90,166,474 (GRCm39)	G65S	probably benign	Het
Dnah17	T	C	11: 117,971,593 (GRCm39)	T2160A	probably damaging	Het
Fads3	T	G	19: 10,032,483 (GRCm39)	L278R	probably damaging	Het
Foxp4	A	T	17: 48,186,507 (GRCm39)	L424*	probably null	Het
Gm10392	A	T	11: 77,409,216 (GRCm39)	E310V	probably damaging	Het
Gm11554	T	A	11: 99,694,815 (GRCm39)	S133C	unknown	Het
Hacd2	T	A	16: 34,926,761 (GRCm39)	F253L	probably benign	Het
Il3ra	T	C	14: 14,351,113 (GRCm38)	S212P	probably benign	Het
Mdn1	T	C	4: 32,694,674 (GRCm39)		probably null	Het
Mtfr1l	A	T	4: 134,257,696 (GRCm39)	L111H	probably damaging	Het
Mysm1	A	G	4: 94,858,741 (GRCm39)		probably benign	Het
Or10j2	C	A	1: 173,098,507 (GRCm39)	S255Y	probably damaging	Het
Or52d1	T	C	7: 103,755,819 (GRCm39)	V111A	probably damaging	Het
Plec	A	T	15: 76,075,231 (GRCm39)	F357I	probably damaging	Het
Polr3a	C	A	14: 24,525,891 (GRCm39)	V450L	possibly damaging	Het
Prkd1	T	C	12: 50,411,456 (GRCm39)	K764R	probably benign	Het
Pxn	C	T	5: 115,690,325 (GRCm39)	P256S	probably damaging	Het
Rbm25	T	A	12: 83,707,096 (GRCm39)	F247L	probably benign	Het
Rfx4	C	T	10: 84,675,970 (GRCm39)	T62M	possibly damaging	Het
Rps4l-ps	T	C	7: 114,526,499 (GRCm39)		noncoding transcript	Het
Scn11a	A	G	9: 119,587,610 (GRCm39)	I1378T	probably benign	Het
Siglecg	T	C	7: 43,058,319 (GRCm39)	S69P	probably benign	Het
Stox1	T	C	10: 62,503,605 (GRCm39)	Y61C	probably damaging	Het
Tex55	T	A	16: 38,648,309 (GRCm39)	T267S	probably benign	Het
Tnks	C	T	8: 35,298,882 (GRCm39)		probably benign	Het
Tpr	A	G	1: 150,306,943 (GRCm39)	S1587G	probably benign	Het
Trappc6b	A	G	12: 59,090,433 (GRCm39)	*97Q	probably null	Het
Wdr7	C	T	18: 63,929,299 (GRCm39)	T1045M	probably benign	Het
Zc3h11a	A	T	1: 133,552,254 (GRCm39)	C618S	probably benign	Het
Zfp398	T	C	6: 47,817,301 (GRCm39)	V47A	possibly damaging	Het
Zzz3	A	G	3: 152,134,211 (GRCm39)	N423S	probably benign	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
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
IGL03223:Usf3	APN	16	44,036,813 (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

2015-04-16