Mutagenetix > Incidental Mutation

Incidental Mutation 'R0900:Usf3'

83862

Institutional Source

Beutler Lab

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: 0.309) question?

Stock #

R0900 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43993609-44047828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44036321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 267 (P267L)

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 benign
Transcript: ENSMUST00000119746
AA Change: P267L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: P267L

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 benign
Transcript: ENSMUST00000169582
AA Change: P267L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: P267L

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: 99.5%
3x: 99.1%
10x: 98.0%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,904,359 (GRCm39)	F144I	probably damaging	Het
Als2cl	A	G	9: 110,719,496 (GRCm39)	R468G	possibly damaging	Het
Arsk	C	A	13: 76,246,576 (GRCm39)		probably benign	Het
Cacna1d	T	C	14: 29,833,039 (GRCm39)	H912R	probably damaging	Het
Ccr1	A	T	9: 123,764,371 (GRCm39)	V53D	possibly damaging	Het
Cfap91	G	A	16: 38,156,764 (GRCm39)	S47L	possibly damaging	Het
Clec2d	G	A	6: 129,160,076 (GRCm39)	R30K	probably benign	Het
Col12a1	A	G	9: 79,591,535 (GRCm39)	V975A	possibly damaging	Het
Col4a1	AGCCAGGGATGCCAGG	AGCCAGG	8: 11,268,014 (GRCm39)		probably benign	Het
Cul7	T	C	17: 46,969,263 (GRCm39)	S907P	probably benign	Het
Depdc1b	A	T	13: 108,498,794 (GRCm39)	H159L	possibly damaging	Het
Dhx57	T	C	17: 80,583,011 (GRCm39)	H198R	probably benign	Het
Dpp7	T	C	2: 25,246,311 (GRCm39)	D10G	probably damaging	Het
Esp18	G	A	17: 39,719,023 (GRCm39)	M7I	possibly damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Fam167a	A	G	14: 63,689,828 (GRCm39)	T42A	probably damaging	Het
Gm973	A	G	1: 59,605,827 (GRCm39)	R553G	probably benign	Het
Ift140	T	A	17: 25,254,786 (GRCm39)	I422N	probably benign	Het
Jag1	CTTT	CTTTT	2: 136,932,802 (GRCm39)		probably null	Het
Limk2	A	G	11: 3,300,731 (GRCm39)	F204L	probably damaging	Het
Lmo7	A	G	14: 102,124,624 (GRCm39)	D361G	probably damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Nup98	T	A	7: 101,809,923 (GRCm39)	T536S	probably damaging	Het
Or52e2	T	A	7: 102,804,520 (GRCm39)	M145L	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pcdh18	A	T	3: 49,711,252 (GRCm39)	F21Y	probably benign	Het
Pcna-ps2	T	A	19: 9,261,487 (GRCm39)	Y249N	probably damaging	Het
Prkce	A	T	17: 86,932,886 (GRCm39)	D622V	probably damaging	Het
Prss47	A	C	13: 65,197,208 (GRCm39)	V176G	possibly damaging	Het
Prss55	C	T	14: 64,314,627 (GRCm39)	R181H	probably benign	Het
Prtg	A	T	9: 72,752,225 (GRCm39)	I204L	probably benign	Het
Pura	T	C	18: 36,420,720 (GRCm39)	I169T	probably damaging	Het
Rttn	C	T	18: 89,119,815 (GRCm39)	T1750I	probably benign	Het
Slc25a26	T	A	6: 94,484,639 (GRCm39)	S60T	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tmem94	T	A	11: 115,682,804 (GRCm39)	C614S	probably benign	Het
Trim12a	T	C	7: 103,953,469 (GRCm39)	N214S	probably benign	Het
Ube3c	T	C	5: 29,806,344 (GRCm39)	Y329H	probably benign	Het
Ubxn2a	T	C	12: 4,952,257 (GRCm39)	K2E	probably damaging	Het
Unc80	A	T	1: 66,710,757 (GRCm39)	E2675D	probably benign	Het
Vmn1r129	A	T	7: 21,094,635 (GRCm39)	Y194*	probably null	Het
Zfp750	T	C	11: 121,403,807 (GRCm39)	E356G	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TCGTTTATTCCAACGGGAGCCAGC -3'
(R):5'- AATCTGCACTGGAGCCCTGCATTG -3'

Sequencing Primer
(F):5'- AACCTTTAATGTTGGTCACGGC -3'
(R):5'- ATTGCCGGGCTGGACTTG -3'

Posted On

2013-11-08