Mutagenetix > Incidental Mutation

Incidental Mutation 'R7398:Usb1'

573967

Institutional Source

Beutler Lab

Gene Symbol

Usb1

Ensembl Gene

ENSMUSG00000031792

Gene Name

U6 snRNA biogenesis 1

Synonyms

AA960436

MMRRC Submission

045480-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R7398 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96058912-96074135 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96071931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 210 (H210Q)

Ref Sequence

ENSEMBL: ENSMUSP00000034245 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034245
AA Change: H210Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034245
Gene: ENSMUSG00000031792
AA Change: H210Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126180

SMART Domains

Protein: ENSMUSP00000122529
Gene: ENSMUSG00000031792

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	A	2: 31,680,811 (GRCm39)	S368T	probably damaging	Het
Acmsd	A	G	1: 127,657,172 (GRCm39)		probably benign	Het
Arid3b	A	T	9: 57,703,495 (GRCm39)	S445T	probably benign	Het
Brinp1	A	G	4: 68,759,591 (GRCm39)	V91A	probably benign	Het
Ccne1	A	G	7: 37,805,702 (GRCm39)		probably null	Het
Col3a1	A	T	1: 45,366,973 (GRCm39)	I249F	unknown	Het
Crybg3	T	C	16: 59,377,688 (GRCm39)	I1189V	probably benign	Het
Cyp2d34	A	T	15: 82,500,964 (GRCm39)	D389E	probably benign	Het
D130043K22Rik	A	C	13: 25,077,360 (GRCm39)	I998L	probably damaging	Het
Dgkq	A	G	5: 108,803,056 (GRCm39)	I298T	possibly damaging	Het
Dnah17	T	C	11: 117,971,550 (GRCm39)	E2161G	probably damaging	Het
Dnajc25	T	C	4: 59,017,824 (GRCm39)		probably null	Het
Dpp9	G	A	17: 56,496,405 (GRCm39)	R768*	probably null	Het
Dusp6	T	A	10: 99,100,740 (GRCm39)	N245K	probably damaging	Het
Eea1	C	A	10: 95,831,493 (GRCm39)	H195N	probably benign	Het
Efhc1	A	G	1: 21,059,744 (GRCm39)	E598G	probably benign	Het
Epb41l1	T	C	2: 156,376,682 (GRCm39)	V809A	probably damaging	Het
Gas8	T	A	8: 124,245,690 (GRCm39)	M1K	probably null	Het
Gcm1	G	A	9: 77,971,961 (GRCm39)	V301I	probably benign	Het
Gm11554	T	A	11: 99,695,085 (GRCm39)	S43C	unknown	Het
Gm7298	A	G	6: 121,758,912 (GRCm39)	I1177V	probably benign	Het
Gm8011	A	G	14: 42,285,918 (GRCm39)	T27A		Het
Hmcn1	A	G	1: 150,522,421 (GRCm39)	I3493T	probably benign	Het
Insrr	T	G	3: 87,716,039 (GRCm39)	I578S	probably damaging	Het
Kif13b	A	G	14: 64,994,972 (GRCm39)	D908G	probably null	Het
Lhcgr	G	C	17: 89,079,474 (GRCm39)	Q71E	probably benign	Het
Lrrc34	T	C	3: 30,697,491 (GRCm39)	D80G	probably damaging	Het
Lrrc7	C	A	3: 157,997,595 (GRCm39)	E156*	probably null	Het
Lrrc9	A	G	12: 72,547,590 (GRCm39)	D1255G	probably damaging	Het
Mcidas	A	G	13: 113,133,416 (GRCm39)	N116D	probably benign	Het
Mmp7	A	G	9: 7,697,594 (GRCm39)	N210D	probably damaging	Het
Morc3	A	G	16: 93,671,748 (GRCm39)	D926G	probably damaging	Het
Mrgpra9	A	G	7: 46,885,385 (GRCm39)	I94T	possibly damaging	Het
Muc16	C	A	9: 18,549,038 (GRCm39)	V5752F	possibly damaging	Het
Myo16	A	T	8: 10,612,183 (GRCm39)	D1276V	unknown	Het
Nlrc4	T	G	17: 74,753,537 (GRCm39)	E282A	probably damaging	Het
Nos2	T	A	11: 78,827,297 (GRCm39)	Y227*	probably null	Het
Obox5	A	C	7: 15,492,713 (GRCm39)	M223L	probably benign	Het
Or10ak13	C	A	4: 118,638,896 (GRCm39)	L295F	possibly damaging	Het
Pygm	G	A	19: 6,435,966 (GRCm39)	R139H	probably damaging	Het
Ranbp2	C	A	10: 58,303,099 (GRCm39)	P789T	probably damaging	Het
Riok2	T	G	17: 17,607,501 (GRCm39)	S350A	probably benign	Het
Rnf214	C	T	9: 45,778,845 (GRCm39)	V445I	possibly damaging	Het
Skida1	C	T	2: 18,051,083 (GRCm39)	V603I	unknown	Het
Skint6	T	A	4: 112,755,335 (GRCm39)	R747S	probably benign	Het
Slc24a5	G	A	2: 124,927,694 (GRCm39)	W331*	probably null	Het
Slc5a10	A	T	11: 61,564,405 (GRCm39)	C525S	probably benign	Het
Styxl2	A	G	1: 165,928,044 (GRCm39)	S523P	probably damaging	Het
Sult2b1	T	C	7: 45,380,718 (GRCm39)	Y288C	probably damaging	Het
Tagln3	G	T	16: 45,543,440 (GRCm39)	N67K	probably damaging	Het
Trav21-dv12	A	T	14: 54,114,162 (GRCm39)	H94L	probably benign	Het
Tshz2	A	G	2: 169,726,094 (GRCm39)	E230G	probably damaging	Het
Vill	C	T	9: 118,899,716 (GRCm39)	P767L	probably benign	Het
Vmn2r94	A	T	17: 18,477,603 (GRCm39)	N269K	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
R5834:Usb1	UTSW	8	96,060,161 (GRCm39)	utr 3 prime	probably benign
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'- GGCACCAGCTATTATGTCTGTG -3'
(R):5'- CTCACAGGACAGGGTTGTAAGG -3'

Sequencing Primer
(F):5'- ACCAGCTATTATGTCTGTGTGGGC -3'
(R):5'- CACACGGAGCCATAGAGATTTTGC -3'

Posted On

2019-09-13