Mutagenetix > Incidental Mutation

Incidental Mutation 'R5164:Usf3'

395617

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

042745-MU

Accession Numbers

Essential gene?

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

Stock #

R5164 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43993609-44047828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44038543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1008 (S1008P)

Ref Sequence

ENSEMBL: ENSMUSP00000128627 (fasta)

Gene Model

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

AlphaFold

B2RUQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000119746
AA Change: S1008P

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

SMART Domains

Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: S1008P

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: S1008P

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

SMART Domains

Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: S1008P

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

0.1094

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,583,793 (GRCm39)	H4637Q	probably benign	Het
Akap6	A	G	12: 53,189,249 (GRCm39)	H2221R	probably benign	Het
Arsj	A	T	3: 126,231,808 (GRCm39)	M185L	probably benign	Het
Ccdc177	T	C	12: 80,805,336 (GRCm39)	T313A	unknown	Het
Cdkal1	A	T	13: 29,809,702 (GRCm39)	L214H	probably damaging	Het
Cfap44	T	A	16: 44,301,752 (GRCm39)	I1830N	probably damaging	Het
Cfap65	T	C	1: 74,965,675 (GRCm39)	K445R	probably damaging	Het
Chrnb3	T	A	8: 27,884,160 (GRCm39)	I299N	probably damaging	Het
Cse1l	C	A	2: 166,786,348 (GRCm39)	D826E	probably benign	Het
Cwf19l2	T	C	9: 3,475,511 (GRCm39)	V816A	probably damaging	Het
Dnah5	A	T	15: 28,408,438 (GRCm39)	E3474D	probably benign	Het
Dock5	A	T	14: 68,055,110 (GRCm39)	Y585*	probably null	Het
Ebf2	T	C	14: 67,627,970 (GRCm39)	S322P	possibly damaging	Het
Epha8	T	C	4: 136,672,983 (GRCm39)	E267G	possibly damaging	Het
Fkbp5	A	G	17: 28,656,964 (GRCm39)		probably null	Het
Gbp4	T	A	5: 105,284,743 (GRCm39)	K49*	probably null	Het
Gramd4	A	T	15: 85,985,032 (GRCm39)	T98S	probably benign	Het
Hectd1	C	A	12: 51,874,272 (GRCm39)	M1I	probably null	Het
Hsd17b8	A	G	17: 34,245,952 (GRCm39)		probably benign	Het
Hycc2	T	C	1: 58,574,597 (GRCm39)	T315A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Keg1	A	G	19: 12,692,044 (GRCm39)		probably benign	Het
Lilra6	A	T	7: 3,917,880 (GRCm39)	V88E	probably damaging	Het
Mast1	A	G	8: 85,640,147 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,759,011 (GRCm39)		probably null	Het
Nrdc	C	T	4: 108,896,914 (GRCm39)	T511I	probably damaging	Het
Odad4	G	A	11: 100,462,346 (GRCm39)	W506*	probably null	Het
Or4c106	T	A	2: 88,682,914 (GRCm39)	L207I	probably benign	Het
Or5p6	G	A	7: 107,631,487 (GRCm39)	T21I	possibly damaging	Het
Or8k24	T	C	2: 86,215,815 (GRCm39)	T316A	probably benign	Het
Pms1	A	G	1: 53,246,799 (GRCm39)	V301A	probably damaging	Het
Pnisr	A	T	4: 21,859,237 (GRCm39)	Q144L	possibly damaging	Het
Pp2d1	G	T	17: 53,815,098 (GRCm39)	T542K	probably benign	Het
Ppargc1b	A	T	18: 61,435,715 (GRCm39)	C922S	probably damaging	Het
Ptprd	T	C	4: 76,018,995 (GRCm39)		probably null	Het
Runx3	T	C	4: 134,848,441 (GRCm39)	S9P	possibly damaging	Het
Serpina1b	A	G	12: 103,698,346 (GRCm39)	S168P	probably benign	Het
Slc14a2	G	A	18: 78,200,487 (GRCm39)	A722V	probably damaging	Het
Slc23a2	T	A	2: 131,917,370 (GRCm39)		probably benign	Het
Slc47a1	A	G	11: 61,243,886 (GRCm39)		probably null	Het
Tcf20	A	G	15: 82,740,804 (GRCm39)	S216P	probably damaging	Het
Tpst1	T	A	5: 130,130,842 (GRCm39)	I104N	probably damaging	Het
Ufm1	A	C	3: 53,765,348 (GRCm39)		probably benign	Het
Unkl	A	G	17: 25,432,083 (GRCm39)		probably null	Het
Ythdf3	T	C	3: 16,237,677 (GRCm39)	V6A	possibly damaging	Het
Zc3h3	A	T	15: 75,648,875 (GRCm39)	S752R	probably benign	Het
Zfp268	T	C	4: 145,348,775 (GRCm39)	Y71H	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
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'- TCTCCTATCGAATCCCAGAGTTTG -3'
(R):5'- CTGGTGAGCAAAGACCCATG -3'

Sequencing Primer
(F):5'- CGAATCCCAGAGTTTGGTTTCTCAG -3'
(R):5'- GGAGAACCTCCTGATCAGGG -3'

Posted On

2016-06-21