Mutagenetix > Incidental Mutation

Incidental Mutation 'R6579:Usf3'

523960

Institutional Source

Beutler Lab

Gene Symbol

Usf3

Ensembl Gene

ENSMUSG00000068284

Gene Name

upstream transcription factor family member 3

Synonyms

LOC207806, 5530400K22Rik, Gm608, LOC385650

MMRRC Submission

044703-MU

Accession Numbers

Essential gene?

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

Stock #

R6579 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43993609-44047828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44039197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1226 (S1226T)

Ref Sequence

ENSEMBL: ENSMUSP00000128627 (fasta)

Gene Model

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

AlphaFold

B2RUQ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119746
AA Change: S1226T

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: S1226T

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

possibly damaging
Transcript: ENSMUST00000169582
AA Change: S1226T

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: S1226T

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

Meta Mutation Damage Score

0.0757

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,161,507 (GRCm39)	V80D	possibly damaging	Het
6330409D20Rik	T	C	2: 32,630,663 (GRCm39)		probably benign	Het
Adam15	C	T	3: 89,252,936 (GRCm39)	V261M	probably damaging	Het
Adam29	G	T	8: 56,325,779 (GRCm39)	T225K	probably damaging	Het
Ankrd52	A	G	10: 128,223,011 (GRCm39)	T654A	probably damaging	Het
AU021092	T	A	16: 5,040,020 (GRCm39)	I35F	probably damaging	Het
Cdk20	G	T	13: 64,584,348 (GRCm39)	Q114H	probably benign	Het
Col22a1	A	C	15: 71,753,502 (GRCm39)	S133A	probably benign	Het
Cyp3a44	A	T	5: 145,727,516 (GRCm39)	F271Y	probably damaging	Het
Dchs1	A	T	7: 105,412,120 (GRCm39)	V1332E	probably benign	Het
Dhrs7l	A	T	12: 72,668,658 (GRCm39)	D117E	probably benign	Het
Dnai7	A	T	6: 145,124,744 (GRCm39)	M527K	probably benign	Het
Dnajc5	A	G	2: 181,189,209 (GRCm39)	N62D	possibly damaging	Het
Gm3045	C	T	13: 56,578,103 (GRCm39)	S180L	probably damaging	Het
Hycc1	A	T	5: 24,171,381 (GRCm39)	V347D	possibly damaging	Het
Igkv14-130	T	A	6: 67,768,421 (GRCm39)	Y93*	probably null	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nell2	A	T	15: 95,282,957 (GRCm39)	Y362N	possibly damaging	Het
Or5an1c	C	T	19: 12,218,726 (GRCm39)	V100I	probably benign	Het
Peli1	A	T	11: 21,097,059 (GRCm39)	T150S	probably benign	Het
Pkhd1	T	C	1: 20,271,047 (GRCm39)	T3169A	probably benign	Het
Polr2m	T	A	9: 71,393,002 (GRCm39)	E26V	probably damaging	Het
Rhbdf2	A	G	11: 116,495,289 (GRCm39)	V238A	probably benign	Het
Rims1	G	T	1: 22,496,166 (GRCm39)	P820H	probably damaging	Het
Rnf213	A	G	11: 119,327,106 (GRCm39)	T1698A	probably damaging	Het
Scgn	C	T	13: 24,143,717 (GRCm39)	A216T	probably damaging	Het
Serpina11	T	A	12: 103,951,007 (GRCm39)	D238V	probably damaging	Het
Setd2	A	T	9: 110,378,846 (GRCm39)	E887V	possibly damaging	Het
Tiam2	CGGG	CGGGG	17: 3,464,897 (GRCm39)		probably null	Het
Trak1	C	A	9: 121,272,704 (GRCm39)	N197K	probably benign	Het
Trpm2	C	T	10: 77,773,660 (GRCm39)	R585Q	probably benign	Het
Uchl5	T	A	1: 143,674,130 (GRCm39)	Y211N	probably damaging	Het
Utrn	T	C	10: 12,623,750 (GRCm39)	T163A	probably benign	Het
Ywhaz	T	C	15: 36,791,166 (GRCm39)	Y19C	probably damaging	Het
Zcchc14	T	C	8: 122,331,206 (GRCm39)		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
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
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'- GGAGACCAGCCCTTTAAACC -3'
(R):5'- TTGAAAGCGGTTCTTGAACCTG -3'

Sequencing Primer
(F):5'- CTTTAAACCACAGATCCACAAGG -3'
(R):5'- CGCTAGTCATGCTGGTCAG -3'

Posted On

2018-06-22