Mutagenetix > Incidental Mutation

Incidental Mutation 'R8824:Usf3'

673354

Institutional Source

Beutler Lab

Gene Symbol

Usf3

Ensembl Gene

ENSMUSG00000068284

Gene Name

upstream transcription factor family member 3

Synonyms

LOC207806, Gm608, LOC385650, 5530400K22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.278) question?

Stock #

R8824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44173246-44227465 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44215613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 152 (N152S)

Ref Sequence

ENSEMBL: ENSMUSP00000112620 (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: N152S

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112620
Gene: ENSMUSG00000068284
AA Change: N152S

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

probably benign
Transcript: ENSMUST00000169582
AA Change: N152S

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128627
Gene: ENSMUSG00000068284
AA Change: N152S

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,862,850	V260D	probably damaging	Het
Adora2a	G	A	10: 75,326,179	A51T	probably damaging	Het
Afg1l	G	A	10: 42,438,387	P128S	possibly damaging	Het
Ago4	C	A	4: 126,507,184	V623L	probably benign	Het
Akap11	A	T	14: 78,516,347	N112K		Het
C1ra	A	T	6: 124,517,695	I306F	probably damaging	Het
Ccdc73	A	G	2: 104,991,877	N724D	possibly damaging	Het
Cd248	A	G	19: 5,069,617	I498V	probably benign	Het
Clrn1	A	T	3: 58,884,893	S50T	probably benign	Het
Col7a1	A	G	9: 108,967,025	K1553R	unknown	Het
Cxcr6	A	C	9: 123,810,941	T343P	probably benign	Het
Cyp11b2	T	A	15: 74,856,065	Q56L	probably damaging	Het
Dip2a	A	G	10: 76,278,486		probably null	Het
Dnmbp	A	G	19: 43,849,837	V742A	probably benign	Het
Dusp16	A	T	6: 134,739,769	S192T	probably benign	Het
Ehbp1	A	T	11: 22,232,053	D87E	probably damaging	Het
Fgl1	A	G	8: 41,199,711	V150A	probably benign	Het
Flt3	T	C	5: 147,334,863	D873G	probably damaging	Het
Gart	T	C	16: 91,630,703	D469G	possibly damaging	Het
Gm28168	T	G	1: 117,947,895	S85A	probably benign	Het
Golgb1	A	G	16: 36,915,689	D1807G	probably benign	Het
Grm8	A	G	6: 27,761,352	L291S	probably damaging	Het
Gucy2d	C	T	7: 98,443,469	P18S	possibly damaging	Het
Ifna15	C	T	4: 88,557,761	C162Y	probably damaging	Het
Iqub	C	A	6: 24,479,308	E412*	probably null	Het
Krt4	T	A	15: 101,920,642	D312V		Het
Krtap26-1	A	T	16: 88,647,415	I106N	probably damaging	Het
Krtap26-1	T	C	16: 88,647,436	Y99C	probably damaging	Het
Lipn	T	C	19: 34,084,716	I357T	probably benign	Het
Lrrc14b	A	G	13: 74,363,949	L4P	probably damaging	Het
Mrgpra9	A	T	7: 47,235,293	C209S	probably benign	Het
Myh7b	A	G	2: 155,630,381	N1291D	probably benign	Het
Myo5a	A	G	9: 75,167,046	T746A	probably damaging	Het
Myom2	A	C	8: 15,114,169	E1021D	possibly damaging	Het
Ncoa2	C	T	1: 13,177,185	R338H	probably benign	Het
Ncor2	A	G	5: 125,118,757	F91L		Het
Neb	C	G	2: 52,216,911	A4407P	probably damaging	Het
Olfr1135	T	C	2: 87,671,960	M136V	possibly damaging	Het
Olfr1272	A	G	2: 90,296,012	I283T	probably damaging	Het
Olfr347	A	T	2: 36,735,191	Y290F	probably damaging	Het
Olfr502	T	G	7: 108,523,143	Y269S	probably benign	Het
Olfr74	A	G	2: 87,974,003	F221L	probably benign	Het
Olfr819	C	T	10: 129,965,792	V297M	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451		probably benign	Het
Piwil4	C	A	9: 14,727,475	K298N	probably benign	Het
Prkcz	G	A	4: 155,344,828		probably benign	Het
Prkg2	G	A	5: 98,942,208	P691L	possibly damaging	Het
Ptprc	T	A	1: 138,113,708	K89*	probably null	Het
Rapgef3	C	T	15: 97,766,908	A25T	probably benign	Het
Rreb1	C	T	13: 37,930,516	T617I	probably damaging	Het
Rsph1	A	C	17: 31,273,376	V72G	possibly damaging	Het
Shc2	A	G	10: 79,637,702	V50A	probably benign	Het
Slc38a9	G	A	13: 112,701,487	R262H	probably benign	Het
Slco6c1	T	A	1: 97,128,159	N6Y	possibly damaging	Het
Smarca5	A	G	8: 80,705,332	F886L	probably benign	Het
Tas1r2	A	G	4: 139,653,763		probably benign	Het
Tnrc6c	T	A	11: 117,739,854		probably benign	Het
Trim30b	T	A	7: 104,357,906		probably benign	Het
Trim55	T	C	3: 19,672,962	S398P	probably benign	Het
Ttc39c	T	A	18: 12,686,946		probably benign	Het
Ubxn10	A	G	4: 138,735,867		probably null	Het
Vps13b	T	A	15: 35,533,299	V839E	probably damaging	Het
Zeb1	T	A	18: 5,748,680		probably benign	Het
Zfp780b	T	C	7: 27,963,468	Y554C	probably benign	Het
Zhx2	C	T	15: 57,821,280	T15I	probably damaging	Het

Other mutations in Usf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01361:Usf3	APN	16	44212637	splice site	probably null
IGL01971:Usf3	APN	16	44217446	splice site	probably null
IGL01982:Usf3	APN	16	44218817	missense	possibly damaging	0.89
IGL02124:Usf3	APN	16	44219656	missense	possibly damaging	0.82
IGL02309:Usf3	APN	16	44200663	missense	probably benign	0.20
IGL02454:Usf3	APN	16	44217182	missense	probably damaging	1.00
IGL02526:Usf3	APN	16	44220311	missense	possibly damaging	0.89
IGL02671:Usf3	APN	16	44221781	missense	probably damaging	1.00
IGL02800:Usf3	APN	16	44219096	missense	probably benign	0.00
IGL02899:Usf3	APN	16	44221226	missense	probably damaging	1.00
IGL03223:Usf3	APN	16	44216450	missense	probably damaging	1.00
I1329:Usf3	UTSW	16	44220530	missense	probably damaging	1.00
R0208:Usf3	UTSW	16	44216906	missense	probably damaging	0.98
R0900:Usf3	UTSW	16	44215958	missense	probably benign
R1160:Usf3	UTSW	16	44218547	missense	probably damaging	1.00
R1417:Usf3	UTSW	16	44217449	missense	probably benign	0.00
R1512:Usf3	UTSW	16	44221198	missense	probably damaging	1.00
R1603:Usf3	UTSW	16	44218172	missense	probably benign
R1702:Usf3	UTSW	16	44219632	nonsense	probably null
R1774:Usf3	UTSW	16	44215670	missense	probably damaging	1.00
R2344:Usf3	UTSW	16	44216051	missense	probably benign
R2400:Usf3	UTSW	16	44215747	missense	probably benign	0.04
R2484:Usf3	UTSW	16	44220682	missense	probably damaging	0.99
R2570:Usf3	UTSW	16	44216381	missense	probably benign	0.00
R3730:Usf3	UTSW	16	44218575	missense	probably benign	0.00
R4024:Usf3	UTSW	16	44216165	missense	possibly damaging	0.76
R4451:Usf3	UTSW	16	44217888	missense	possibly damaging	0.76
R4883:Usf3	UTSW	16	44219579	missense	probably damaging	1.00
R4895:Usf3	UTSW	16	44221096	missense	possibly damaging	0.93
R4924:Usf3	UTSW	16	44217355	missense	probably benign
R5020:Usf3	UTSW	16	44215526	missense	probably damaging	1.00
R5034:Usf3	UTSW	16	44216399	missense	probably damaging	1.00
R5053:Usf3	UTSW	16	44217187	missense	probably benign	0.01
R5058:Usf3	UTSW	16	44212707	missense	probably damaging	1.00
R5164:Usf3	UTSW	16	44218180	missense	probably damaging	1.00
R5391:Usf3	UTSW	16	44217463	missense	probably benign	0.01
R5407:Usf3	UTSW	16	44217406	missense	probably benign	0.01
R5536:Usf3	UTSW	16	44217370	missense	probably benign	0.16
R5805:Usf3	UTSW	16	44220746	missense	possibly damaging	0.50
R5966:Usf3	UTSW	16	44220859	missense	probably benign	0.14
R6024:Usf3	UTSW	16	44219840	missense	probably damaging	1.00
R6122:Usf3	UTSW	16	44217307	missense	probably damaging	0.99
R6180:Usf3	UTSW	16	44221105	missense	probably damaging	1.00
R6362:Usf3	UTSW	16	44218577	missense	probably benign	0.01
R6579:Usf3	UTSW	16	44218834	missense	possibly damaging	0.54
R6874:Usf3	UTSW	16	44219740	missense	probably benign	0.00
R7226:Usf3	UTSW	16	44220005	missense	possibly damaging	0.54
R7379:Usf3	UTSW	16	44220576	missense	probably benign	0.33
R7389:Usf3	UTSW	16	44217941	missense	probably benign	0.09
R7452:Usf3	UTSW	16	44220034	missense	probably benign	0.00
R7606:Usf3	UTSW	16	44218943	missense	probably damaging	1.00
R7750:Usf3	UTSW	16	44220521	missense	probably benign	0.15
R7765:Usf3	UTSW	16	44219063	missense	probably benign	0.28
R7830:Usf3	UTSW	16	44219779	nonsense	probably null
R7895:Usf3	UTSW	16	44216202	missense	possibly damaging	0.67
R7941:Usf3	UTSW	16	44215561	missense	probably damaging	1.00
R8280:Usf3	UTSW	16	44218501	missense	probably benign	0.00
R8285:Usf3	UTSW	16	44220844	missense	probably damaging	1.00
R8421:Usf3	UTSW	16	44217209	missense	possibly damaging	0.67
R8692:Usf3	UTSW	16	44219740	missense	probably benign	0.00
R8798:Usf3	UTSW	16	44220173	missense	probably damaging	0.99
R9123:Usf3	UTSW	16	44220667	missense	probably benign
R9266:Usf3	UTSW	16	44219732	missense	probably damaging	0.98
R9335:Usf3	UTSW	16	44221573	missense	probably damaging	1.00
R9610:Usf3	UTSW	16	44216573	missense	probably benign	0.00
R9643:Usf3	UTSW	16	44221807	missense	possibly damaging	0.47
R9780:Usf3	UTSW	16	44218818	missense	possibly damaging	0.89
R9785:Usf3	UTSW	16	44221607	missense	probably benign	0.33
X0057:Usf3	UTSW	16	44220784	missense	probably benign	0.32
X0066:Usf3	UTSW	16	44220427	missense	probably benign	0.00
Z1176:Usf3	UTSW	16	44220431	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- AGTGGCTTAGCACATATAGTTTTGC -3'
(R):5'- ACGGCTTGTTTTCAGAAGGG -3'

Sequencing Primer
(F):5'- GCTTAGCACATATAGTTTTGCTTAAG -3'
(R):5'- GCTTGTTTTCAGAAGGGTAAACTCC -3'

Posted On

2021-07-15