Mutagenetix > Incidental Mutation

Incidental Mutation 'R3730:Usf3'

270947

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: 0.271) question?

Stock #

R3730 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43993609-44047828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44038938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 1139 (L1139F)

Ref Sequence

ENSEMBL: ENSMUSP00000128627 (fasta)

Gene Model

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

AlphaFold

B2RUQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000119746
AA Change: L1139F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: L1139F

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: L1139F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: L1139F

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: 99.0%
3x: 98.3%
10x: 96.2%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	G	1: 11,615,450 (GRCm39)	N141S	probably damaging	Het
Acbd6	T	A	1: 155,434,471 (GRCm39)	S30T	probably benign	Het
Acot12	T	A	13: 91,908,145 (GRCm39)	F109Y	possibly damaging	Het
Adamts19	G	A	18: 59,033,982 (GRCm39)	R319Q	probably damaging	Het
Akap1	T	C	11: 88,736,008 (GRCm39)	E218G	possibly damaging	Het
Atg4b	T	A	1: 93,695,997 (GRCm39)	D45E	probably damaging	Het
Atoh1	A	G	6: 64,706,557 (GRCm39)	E84G	probably benign	Het
Cemip2	A	G	19: 21,803,481 (GRCm39)	Y838C	probably damaging	Het
Cfap251	A	T	5: 123,464,631 (GRCm39)	I1280L	possibly damaging	Het
Cfap54	A	T	10: 92,847,335 (GRCm39)	Y951*	probably null	Het
Col4a4	T	A	1: 82,433,472 (GRCm39)		probably null	Het
Crlf1	A	G	8: 70,952,092 (GRCm39)	T95A	probably benign	Het
Cyp3a25	G	A	5: 145,939,891 (GRCm39)	P39S	probably damaging	Het
Dhx9	C	A	1: 153,353,866 (GRCm39)	A186S	probably benign	Het
Dusp16	A	G	6: 134,695,824 (GRCm39)	S336P	probably benign	Het
Fcgbp	T	C	7: 27,784,882 (GRCm39)	V314A	possibly damaging	Het
Focad	T	C	4: 88,327,162 (GRCm39)	I157T	possibly damaging	Het
Frem3	A	T	8: 81,342,545 (GRCm39)	T1613S	probably damaging	Het
Fshr	C	T	17: 89,309,143 (GRCm39)	V222I	probably benign	Het
Galnt13	A	G	2: 54,823,519 (GRCm39)	N365S	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ice1	A	T	13: 70,751,359 (GRCm39)	S1576T	probably damaging	Het
Ighv1-19	C	A	12: 114,672,497 (GRCm39)	C40F	probably damaging	Het
Itga8	T	C	2: 12,198,321 (GRCm39)	T555A	possibly damaging	Het
Kctd5	T	C	17: 24,278,212 (GRCm39)	D146G	probably benign	Het
Ktn1	A	G	14: 47,938,606 (GRCm39)	E766G	probably damaging	Het
Ldlr	C	G	9: 21,643,097 (GRCm39)	A41G	probably benign	Het
Lrp2	G	A	2: 69,294,923 (GRCm39)	P3465L	probably damaging	Het
Lrp2	A	T	2: 69,365,251 (GRCm39)		probably null	Het
Mapk11	G	A	15: 89,029,318 (GRCm39)	A248V	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Npr2	T	C	4: 43,640,999 (GRCm39)	S402P	possibly damaging	Het
Olfm2	T	C	9: 20,584,063 (GRCm39)	N76D	probably damaging	Het
Or7g33	T	A	9: 19,448,447 (GRCm39)	I260F	probably benign	Het
Or8k3	A	G	2: 86,059,195 (GRCm39)	I40T	probably benign	Het
Pias4	A	T	10: 80,999,888 (GRCm39)	F55Y	probably damaging	Het
Rgs12	G	A	5: 35,189,595 (GRCm39)	E658K	probably damaging	Het
Ripor3	C	G	2: 167,834,739 (GRCm39)	E251Q	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slc35e4	A	G	11: 3,862,577 (GRCm39)	V204A	possibly damaging	Het
Syt4	T	C	18: 31,577,189 (GRCm39)	H55R	probably damaging	Het
Trim46	T	A	3: 89,142,256 (GRCm39)	T721S	probably benign	Het
Xrn2	A	T	2: 146,866,729 (GRCm39)	M100L	probably benign	Het
Zbtb33	C	A	X: 37,281,822 (GRCm39)	N243K	probably benign	Het
Zfp960	T	A	17: 17,308,633 (GRCm39)	L449H	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
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'- GGTCTTTGCTCACCAGTAGAC -3'
(R):5'- AGAGGCCTATCGACTGTCAC -3'

Sequencing Primer
(F):5'- TTTGCTCACCAGTAGACAGGCTG -3'
(R):5'- TGTCACTTCCACAGAATCCTGAGAG -3'

Posted On

2015-03-18