Mutagenetix > Incidental Mutation

Incidental Mutation 'R4088:Ubtfl1'

317469

Institutional Source

Beutler Lab

Gene Symbol

Ubtfl1

Ensembl Gene

ENSMUSG00000074502

Gene Name

upstream binding transcription factor, RNA polymerase I-like 1

Synonyms

B020006M18Rik, Hmgpi

MMRRC Submission

040981-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R4088 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18315714-18322798 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18321264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 264 (V264A)

Ref Sequence

ENSEMBL: ENSMUSP00000126540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098973] [ENSMUST00000164441] [ENSMUST00000169398]

AlphaFold

Q3USZ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000098973
AA Change: V264A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096572
Gene: ENSMUSG00000074502
AA Change: V264A

Domain	Start	End	E-Value	Type
Blast:SANT	6	64	1e-17	BLAST
HMG	100	170	5.61e-16	SMART
HMG	224	292	3.79e-4	SMART
low complexity region	297	307	N/A	INTRINSIC
low complexity region	373	394	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000164441
AA Change: V264A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129611
Gene: ENSMUSG00000074502
AA Change: V264A

Domain	Start	End	E-Value	Type
Blast:SANT	6	64	1e-17	BLAST
HMG	100	170	5.61e-16	SMART
HMG	224	292	3.79e-4	SMART
low complexity region	297	307	N/A	INTRINSIC
low complexity region	373	394	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169398
AA Change: V264A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126540
Gene: ENSMUSG00000074502
AA Change: V264A

Domain	Start	End	E-Value	Type
Blast:SANT	6	64	1e-17	BLAST
HMG	100	170	5.61e-16	SMART
HMG	224	292	3.79e-4	SMART
low complexity region	297	307	N/A	INTRINSIC
low complexity region	373	394	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430110L20Rik	T	C	1: 181,055,274 (GRCm39)		noncoding transcript	Het
Alox12b	G	T	11: 69,049,211 (GRCm39)	V87L	probably benign	Het
Arsk	T	G	13: 76,246,533 (GRCm39)	N32T	probably benign	Het
Baz1b	T	A	5: 135,245,794 (GRCm39)	N414K	probably damaging	Het
Cacna1e	A	T	1: 154,287,929 (GRCm39)		probably null	Het
Cdc73	A	G	1: 143,484,252 (GRCm39)		probably benign	Het
Cdhr2	A	G	13: 54,865,701 (GRCm39)	D233G	probably null	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Col4a4	T	A	1: 82,501,643 (GRCm39)	Y370F	unknown	Het
Cyp2b9	T	C	7: 25,872,881 (GRCm39)	L8P	probably damaging	Het
Ddx4	A	G	13: 112,750,295 (GRCm39)	V386A	probably benign	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Dnajc6	T	A	4: 101,496,593 (GRCm39)	V920E	probably damaging	Het
Eef2kmt	A	T	16: 5,070,899 (GRCm39)	I50N	probably damaging	Het
Esyt3	T	C	9: 99,206,290 (GRCm39)	M40V	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gpr26	G	T	7: 131,568,805 (GRCm39)	C50F	probably benign	Het
Hmcn1	A	G	1: 150,578,967 (GRCm39)	I1993T	possibly damaging	Het
Hsdl2	T	A	4: 59,610,636 (GRCm39)	L211Q	unknown	Het
Khdrbs2	A	G	1: 32,372,605 (GRCm39)	E93G	probably damaging	Het
Kif13b	T	C	14: 65,004,904 (GRCm39)		probably null	Het
Kif15	T	A	9: 122,815,254 (GRCm39)	L423I	probably benign	Het
Kmt2c	A	G	5: 25,492,711 (GRCm39)	V834A	probably benign	Het
Lama3	T	A	18: 12,637,365 (GRCm39)	Y28*	probably null	Het
Map4k2	A	T	19: 6,403,186 (GRCm39)	H763L	probably damaging	Het
Mrtfb	T	C	16: 13,202,064 (GRCm39)	F120S	probably damaging	Het
Ndufs3	C	T	2: 90,728,689 (GRCm39)		probably benign	Het
Nfasc	A	T	1: 132,523,329 (GRCm39)	V887E	probably damaging	Het
Npsr1	G	A	9: 24,225,065 (GRCm39)	E358K	possibly damaging	Het
Nrcam	T	C	12: 44,618,985 (GRCm39)	L828P	possibly damaging	Het
Oprm1	T	C	10: 6,780,234 (GRCm39)	Y299H	probably damaging	Het
Or1j15	T	A	2: 36,459,030 (GRCm39)	L140H	probably damaging	Het
Osbpl8	T	C	10: 111,125,651 (GRCm39)	V777A	possibly damaging	Het
Pcnt	T	C	10: 76,263,848 (GRCm39)	E372G	probably damaging	Het
Plekhh2	T	C	17: 84,925,427 (GRCm39)	V1408A	probably benign	Het
Sbk2	T	C	7: 4,960,627 (GRCm39)	Y181C	probably damaging	Het
Sf1	G	A	19: 6,418,470 (GRCm39)		probably null	Het
Slc26a9	A	G	1: 131,695,587 (GRCm39)	E765G	possibly damaging	Het
Stab2	A	G	10: 86,758,049 (GRCm39)	L1073P	probably damaging	Het
Sypl2	A	G	3: 108,124,992 (GRCm39)	I123T	possibly damaging	Het
Taar3	A	G	10: 23,825,757 (GRCm39)	D101G	possibly damaging	Het
Thsd4	T	C	9: 59,904,505 (GRCm39)	R204G	probably benign	Het
Traf3ip3	A	G	1: 192,863,628 (GRCm39)	V414A	probably damaging	Het
Trim14	T	A	4: 46,523,709 (GRCm39)	T110S	probably benign	Het
Trim65	G	A	11: 116,017,305 (GRCm39)	Q386*	probably null	Het
Ttn	G	A	2: 76,748,114 (GRCm39)	Q4312*	probably null	Het
Vmn1r58	C	A	7: 5,413,654 (GRCm39)	W192L	probably damaging	Het
Washc5	C	A	15: 59,211,711 (GRCm39)	C969F	probably damaging	Het
Zdhhc14	A	G	17: 5,777,131 (GRCm39)	K296R	probably benign	Het
Zfp281	T	A	1: 136,553,859 (GRCm39)	I279N	probably damaging	Het
Zfp9	G	T	6: 118,441,730 (GRCm39)	P311T	probably damaging	Het

Other mutations in Ubtfl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01886:Ubtfl1	APN	9	18,321,017 (GRCm39)	missense	possibly damaging	0.93
IGL02028:Ubtfl1	APN	9	18,320,849 (GRCm39)	missense	possibly damaging	0.83
R0112:Ubtfl1	UTSW	9	18,321,083 (GRCm39)	missense	probably benign	0.24
R0600:Ubtfl1	UTSW	9	18,320,660 (GRCm39)	missense	probably damaging	1.00
R1450:Ubtfl1	UTSW	9	18,321,209 (GRCm39)	missense	possibly damaging	0.54
R1511:Ubtfl1	UTSW	9	18,321,489 (GRCm39)	missense	probably benign	0.00
R2007:Ubtfl1	UTSW	9	18,320,547 (GRCm39)	missense	possibly damaging	0.93
R3611:Ubtfl1	UTSW	9	18,320,661 (GRCm39)	missense	probably damaging	1.00
R3836:Ubtfl1	UTSW	9	18,320,533 (GRCm39)	missense	possibly damaging	0.67
R4577:Ubtfl1	UTSW	9	18,320,789 (GRCm39)	missense	probably damaging	1.00
R5057:Ubtfl1	UTSW	9	18,320,487 (GRCm39)	missense	possibly damaging	0.83
R5224:Ubtfl1	UTSW	9	18,321,326 (GRCm39)	missense	probably benign	0.34
R5284:Ubtfl1	UTSW	9	18,320,741 (GRCm39)	nonsense	probably null
R5965:Ubtfl1	UTSW	9	18,320,838 (GRCm39)	missense	probably benign	0.04
R6261:Ubtfl1	UTSW	9	18,320,592 (GRCm39)	missense	possibly damaging	0.65
R6449:Ubtfl1	UTSW	9	18,320,925 (GRCm39)	missense	possibly damaging	0.88
R6951:Ubtfl1	UTSW	9	18,320,873 (GRCm39)	missense	probably benign	0.03
R7130:Ubtfl1	UTSW	9	18,321,143 (GRCm39)	missense	probably damaging	1.00
R7133:Ubtfl1	UTSW	9	18,320,931 (GRCm39)	missense	probably damaging	1.00
R7664:Ubtfl1	UTSW	9	18,320,782 (GRCm39)	missense	possibly damaging	0.66
R7718:Ubtfl1	UTSW	9	18,320,527 (GRCm39)	missense	possibly damaging	0.77
R8171:Ubtfl1	UTSW	9	18,320,523 (GRCm39)	missense	probably benign	0.09
R8789:Ubtfl1	UTSW	9	18,321,609 (GRCm39)	missense	unknown
R8811:Ubtfl1	UTSW	9	18,321,459 (GRCm39)	missense	probably benign
R8993:Ubtfl1	UTSW	9	18,321,637 (GRCm39)	missense
R9536:Ubtfl1	UTSW	9	18,320,537 (GRCm39)	missense	probably benign	0.10
Z1177:Ubtfl1	UTSW	9	18,320,963 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCTACGAAGTCACAAGGAG -3'
(R):5'- AAACTTGGAGCTTCTGCCTCC -3'

Sequencing Primer
(F):5'- GTCTCTTGTAAAAACAGAATCTCCC -3'
(R):5'- GCCTCCAGACATGCTCATG -3'

Posted On

2015-05-15