Mutagenetix > Incidental Mutation

Incidental Mutation 'R5805:Usf3'

448471

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

043212-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.309) question?

Stock #

R5805 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43993609-44047828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44041109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1863 (N1863S)

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: N1863S

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: N1863S

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

possibly damaging
Transcript: ENSMUST00000169582
AA Change: N1863S

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: N1863S

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	C	T	11: 110,170,216 (GRCm39)	C1293Y	probably benign	Het
Adam8	T	A	7: 139,565,794 (GRCm39)	D611V	probably damaging	Het
Arhgap33	T	C	7: 30,225,839 (GRCm39)	T576A	probably benign	Het
Atf7	A	T	15: 102,466,022 (GRCm39)		probably null	Het
Baiap3	T	A	17: 25,466,489 (GRCm39)	T464S	probably benign	Het
Ccdc40	T	C	11: 119,136,906 (GRCm39)		probably null	Het
Celf2	T	C	2: 6,558,598 (GRCm39)	E430G	probably damaging	Het
Chia1	A	G	3: 106,035,792 (GRCm39)	T211A	probably damaging	Het
Ciz1	T	C	2: 32,257,408 (GRCm39)	F151S	probably damaging	Het
Dnm2	A	G	9: 21,378,965 (GRCm39)	T175A	probably damaging	Het
Doc2b	A	G	11: 75,663,364 (GRCm39)	S363P	probably damaging	Het
Garem1	C	T	18: 21,281,492 (GRCm39)	R288H	probably benign	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Helz2	C	A	2: 180,882,301 (GRCm39)	C164F	probably damaging	Het
Itfg1	A	T	8: 86,493,601 (GRCm39)	S293T	probably benign	Het
Kcnn2	T	A	18: 45,816,198 (GRCm39)	D336E	probably damaging	Het
Kifc2	C	T	15: 76,546,353 (GRCm39)	A245V	probably benign	Het
Krt18	T	A	15: 101,939,735 (GRCm39)	I311N	probably benign	Het
Lypla1	T	C	1: 4,900,517 (GRCm39)	M7T	possibly damaging	Het
Mef2a	T	C	7: 66,901,416 (GRCm39)	M285V	possibly damaging	Het
Micu1	A	C	10: 59,663,128 (GRCm39)	K353Q	possibly damaging	Het
Mpv17l	A	G	16: 13,760,013 (GRCm39)		probably benign	Het
Ntrk1	G	A	3: 87,687,479 (GRCm39)	R652W	probably damaging	Het
Or13a28	T	A	7: 140,218,384 (GRCm39)	F257I	probably benign	Het
Or13c7	T	C	4: 43,855,152 (GRCm39)	I281T	probably benign	Het
Or4c107	G	A	2: 88,788,985 (GRCm39)	M58I	possibly damaging	Het
Pcdh15	C	A	10: 74,066,091 (GRCm39)	T252K	probably damaging	Het
Pcsk5	T	C	19: 17,434,193 (GRCm39)	M1392V	probably benign	Het
Phf20	T	A	2: 156,149,214 (GRCm39)	V964E	probably damaging	Het
Pira13	G	A	7: 3,825,622 (GRCm39)	L416F	probably benign	Het
Plcg2	T	C	8: 118,325,234 (GRCm39)		probably null	Het
Rnf10	A	T	5: 115,382,127 (GRCm39)	C693S	probably benign	Het
Rnf19b	A	G	4: 128,952,617 (GRCm39)	Y185C	probably damaging	Het
Ros1	G	T	10: 51,999,385 (GRCm39)	D1167E	probably damaging	Het
Sidt2	G	A	9: 45,853,497 (GRCm39)	S701L	probably damaging	Het
Slc66a2	C	T	18: 80,306,658 (GRCm39)	P76L	probably damaging	Het
Spag1	T	C	15: 36,200,430 (GRCm39)	I345T	probably damaging	Het
Srcap	T	A	7: 127,141,211 (GRCm39)	S1603T	possibly damaging	Het
Stag1	T	A	9: 100,678,831 (GRCm39)	Y251N	probably damaging	Het
Stxbp5	T	C	10: 9,776,330 (GRCm39)	N33S	probably benign	Het
Tnrc6a	T	C	7: 122,769,299 (GRCm39)	L363P	probably damaging	Het
U2surp	C	T	9: 95,361,357 (GRCm39)	R591H	possibly damaging	Het
Vmn2r15	T	C	5: 109,434,806 (GRCm39)	I633V	possibly damaging	Het
Zfp979	T	C	4: 147,698,067 (GRCm39)	D214G	probably 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
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
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'- CACCAAAGTTTCATGCAGAGCC -3'
(R):5'- AAAGTTGGCCTTGCAACCCC -3'

Sequencing Primer
(F):5'- CCTCACCTTGGTGATCAGG -3'
(R):5'- AACCCCATGCATGTTGGATG -3'

Posted On

2016-12-15