Mutagenetix > Incidental Mutation

Incidental Mutation 'R5834:Usb1'

501583

Institutional Source

Beutler Lab

Gene Symbol

Usb1

Ensembl Gene

ENSMUSG00000031792

Gene Name

U6 snRNA biogenesis 1

Synonyms

AA960436

MMRRC Submission

044055-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R5834 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96058912-96074135 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

G to A at 96060161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148673 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034245] [ENSMUST00000057717] [ENSMUST00000126180] [ENSMUST00000213059]

AlphaFold

no structure available at present

Predicted Effect

silent
Transcript: ENSMUST00000034245

SMART Domains

Protein: ENSMUSP00000034245
Gene: ENSMUSG00000031792

Domain	Start	End	E-Value	Type
Pfam:HVSL	45	265	6.3e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057717

SMART Domains

Protein: ENSMUSP00000053397
Gene: ENSMUSG00000046556

Domain	Start	End	E-Value	Type
low complexity region	6	29	N/A	INTRINSIC
low complexity region	53	64	N/A	INTRINSIC
Blast:ZnF_C2H2	75	99	6e-7	BLAST
ZnF_C2H2	103	123	7.57e1	SMART
ZnF_C2H2	131	153	8.67e-1	SMART
low complexity region	168	189	N/A	INTRINSIC
ZnF_C2H2	201	223	9.73e-4	SMART
ZnF_C2H2	229	251	1.47e-3	SMART
ZnF_C2H2	257	279	1.12e-3	SMART
ZnF_C2H2	314	336	6.42e-4	SMART
ZnF_C2H2	342	364	1.2e-3	SMART
ZnF_C2H2	370	392	8.81e-2	SMART
ZnF_C2H2	398	418	2.75e1	SMART
ZnF_C2H2	427	449	1.84e-4	SMART
ZnF_C2H2	457	477	1.27e2	SMART
ZnF_C2H2	485	507	2.79e-4	SMART
ZnF_C2H2	513	535	6.42e-4	SMART
ZnF_C2H2	541	563	4.11e-2	SMART

Predicted Effect

silent
Transcript: ENSMUST00000126180

SMART Domains

Protein: ENSMUSP00000122529
Gene: ENSMUSG00000031792

Domain	Start	End	E-Value	Type
Pfam:HVSL	1	113	6.4e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145060

Predicted Effect

probably benign
Transcript: ENSMUST00000213059

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,227,974 (GRCm39)		probably null	Het
Adamts20	A	C	15: 94,251,465 (GRCm39)	S441A	probably damaging	Het
Aen	T	A	7: 78,557,049 (GRCm39)	M299K	probably damaging	Het
Akap3	T	C	6: 126,842,796 (GRCm39)	S472P	probably benign	Het
Ank3	T	G	10: 69,658,087 (GRCm39)	V158G	probably damaging	Het
Arfgap1	A	G	2: 180,622,955 (GRCm39)	D324G	probably benign	Het
Aste1	A	T	9: 105,280,614 (GRCm39)	R448S	probably benign	Het
Atp10a	T	A	7: 58,308,366 (GRCm39)	L55Q	probably benign	Het
C1qtnf9	G	A	14: 61,016,899 (GRCm39)	G143D	probably damaging	Het
Camsap2	A	G	1: 136,208,126 (GRCm39)	V1122A	probably benign	Het
Cbl	T	C	9: 44,145,076 (GRCm39)	H37R	probably damaging	Het
Cfap61	A	C	2: 145,971,069 (GRCm39)	D893A	probably benign	Het
Chd2	T	A	7: 73,128,463 (GRCm39)	I841F	probably damaging	Het
Chd9	A	G	8: 91,723,792 (GRCm39)	T622A	probably damaging	Het
Cntnap3	A	G	13: 64,896,391 (GRCm39)	Y1028H	probably benign	Het
Crybg2	A	G	4: 133,801,434 (GRCm39)	T865A	probably benign	Het
Cyp2c55	A	G	19: 39,030,511 (GRCm39)	I448V	probably benign	Het
Cyth1	T	A	11: 118,083,289 (GRCm39)		probably null	Het
Dcaf13	C	T	15: 39,007,037 (GRCm39)	R324*	probably null	Het
Dhx37	C	A	5: 125,502,794 (GRCm39)	R42L	probably damaging	Het
Dock1	T	A	7: 134,365,662 (GRCm39)	V450E	probably damaging	Het
Ednrb	A	G	14: 104,058,313 (GRCm39)	L330P	probably damaging	Het
Eml4	T	A	17: 83,785,170 (GRCm39)	H778Q	probably damaging	Het
Evx1	T	A	6: 52,292,975 (GRCm39)	I227N	probably damaging	Het
G3bp1	T	A	11: 55,388,766 (GRCm39)	V326E	probably benign	Het
Gata2	T	C	6: 88,177,729 (GRCm39)	V253A	probably benign	Het
Gbp2	A	G	3: 142,339,138 (GRCm39)	N397D	probably damaging	Het
Gm14401	C	A	2: 176,778,696 (GRCm39)	H261N	probably benign	Het
Hacd4	A	T	4: 88,316,389 (GRCm39)	H243Q	probably benign	Het
Hsd3b1	C	A	3: 98,760,255 (GRCm39)	K245N	possibly damaging	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Ift27	A	T	15: 78,049,443 (GRCm39)	C86S	probably damaging	Het
Iqgap2	C	T	13: 95,811,880 (GRCm39)	R707H	probably damaging	Het
Irs3	T	A	5: 137,642,821 (GRCm39)	S206C	probably damaging	Het
Lefty2	C	T	1: 180,720,716 (GRCm39)		probably benign	Het
Mark3	A	G	12: 111,590,921 (GRCm39)	I162V	probably damaging	Het
Matcap1	G	A	8: 106,008,755 (GRCm39)	Q421*	probably null	Het
Mefv	A	C	16: 3,533,910 (GRCm39)	D120E	probably damaging	Het
Mep1a	G	A	17: 43,789,055 (GRCm39)	H574Y	probably benign	Het
Mre11a	A	G	9: 14,710,953 (GRCm39)	I45V	probably benign	Het
Mtor	A	G	4: 148,620,993 (GRCm39)	N1797S	possibly damaging	Het
Nav1	A	C	1: 135,460,144 (GRCm39)	M393R	probably benign	Het
Nod2	T	C	8: 89,391,267 (GRCm39)	S510P	possibly damaging	Het
Nos2	C	T	11: 78,819,405 (GRCm39)	T39I	probably benign	Het
Or2h1b	A	T	17: 37,462,690 (GRCm39)	Y58N	probably damaging	Het
Or5p54	T	A	7: 107,554,113 (GRCm39)	H88Q	probably benign	Het
Pcdh7	A	G	5: 57,878,970 (GRCm39)	S842G	possibly damaging	Het
Pcdha11	T	C	18: 37,145,676 (GRCm39)	V589A	probably damaging	Het
Plaa	A	C	4: 94,471,706 (GRCm39)	V10G	probably damaging	Het
Pprc1	T	A	19: 46,053,659 (GRCm39)		probably benign	Het
Ptprt	T	C	2: 161,402,189 (GRCm39)	Y994C	probably damaging	Het
Ripply2	T	A	9: 86,897,943 (GRCm39)	W37R	probably damaging	Het
Rpgrip1	A	G	14: 52,395,839 (GRCm39)	D1227G	probably damaging	Het
Scoc	C	T	8: 84,164,260 (GRCm39)	D10N	possibly damaging	Het
Sdk2	A	T	11: 113,745,099 (GRCm39)	I732N	probably damaging	Het
Six2	T	C	17: 85,995,092 (GRCm39)	K97E	probably damaging	Het
Slit2	A	C	5: 48,416,989 (GRCm39)	N1014H	probably damaging	Het
Smc1b	A	C	15: 84,973,866 (GRCm39)	L930R	probably damaging	Het
Spag16	T	A	1: 69,962,873 (GRCm39)	M340K	probably benign	Het
Spata31	C	T	13: 65,070,480 (GRCm39)	S876L	probably benign	Het
Spen	A	G	4: 141,199,154 (GRCm39)	Y3135H	possibly damaging	Het
Spta1	A	T	1: 174,012,363 (GRCm39)		probably null	Het
Stk3	G	A	15: 34,959,164 (GRCm39)	T336I	probably damaging	Het
Tas2r118	T	A	6: 23,969,876 (GRCm39)	T62S	probably benign	Het
Tmprss11d	A	G	5: 86,454,169 (GRCm39)	M212T	probably damaging	Het
Trpc7	A	G	13: 56,923,971 (GRCm39)	L738P	probably damaging	Het
Ttll8	A	G	15: 88,801,449 (GRCm39)	V413A	possibly damaging	Het
Vmn1r238	T	C	18: 3,123,168 (GRCm39)	E82G	probably benign	Het
Vmn2r114	T	C	17: 23,529,599 (GRCm39)	T168A	possibly damaging	Het
Vmn2r60	C	A	7: 41,765,932 (GRCm39)	P13H	probably benign	Het
Wdr26	A	G	1: 181,030,712 (GRCm39)	L194P	probably damaging	Het
Zfhx2	G	A	14: 55,310,787 (GRCm39)	Q636*	probably null	Het
Zfyve26	A	G	12: 79,313,311 (GRCm39)	Y25H	probably benign	Het

Other mutations in Usb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03164:Usb1	APN	8	96,060,112 (GRCm39)	missense	probably damaging	1.00
R0276:Usb1	UTSW	8	96,060,085 (GRCm39)	missense	probably damaging	1.00
R0385:Usb1	UTSW	8	96,071,946 (GRCm39)	missense	probably damaging	1.00
R0730:Usb1	UTSW	8	96,070,669 (GRCm39)	missense	probably damaging	1.00
R0801:Usb1	UTSW	8	96,060,168 (GRCm39)	splice site	probably null
R1497:Usb1	UTSW	8	96,065,325 (GRCm39)	missense	probably benign	0.00
R2230:Usb1	UTSW	8	96,070,674 (GRCm39)	missense	probably damaging	1.00
R2231:Usb1	UTSW	8	96,070,674 (GRCm39)	missense	probably damaging	1.00
R2232:Usb1	UTSW	8	96,070,674 (GRCm39)	missense	probably damaging	1.00
R2402:Usb1	UTSW	8	96,069,759 (GRCm39)	missense	probably benign	0.06
R2507:Usb1	UTSW	8	96,069,752 (GRCm39)	missense	probably damaging	1.00
R3821:Usb1	UTSW	8	96,060,061 (GRCm39)	missense	probably benign	0.35
R5085:Usb1	UTSW	8	96,070,679 (GRCm39)	missense	probably damaging	0.98
R7398:Usb1	UTSW	8	96,071,931 (GRCm39)	missense	probably damaging	1.00
R8039:Usb1	UTSW	8	96,060,041 (GRCm39)	missense	probably damaging	1.00
R8816:Usb1	UTSW	8	96,071,984 (GRCm39)	missense	probably benign	0.13
R9716:Usb1	UTSW	8	96,070,685 (GRCm39)	missense	probably damaging	1.00
R9732:Usb1	UTSW	8	96,065,375 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTTGCAGTGGCCAGAACC -3'
(R):5'- TGGTGATTATAATGTGGGCTCA -3'

Sequencing Primer
(F):5'- GAACCCCGTTCCCAGTGAGAAG -3'
(R):5'- CCCCACTTTAGAGGTGCAGAAATG -3'

Posted On

2017-12-01