Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02028:Ubtfl1'

184259

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubtfl1

Ensembl Gene

ENSMUSG00000074502

Gene Name

upstream binding transcription factor, RNA polymerase I-like 1

Synonyms

B020006M18Rik, Hmgpi

Accession Numbers

Essential gene?

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

Stock #

IGL02028

Quality Score

Status

Chromosome

Chromosomal Location

18315714-18322798 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18320849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 126 (Y126N)

Ref Sequence

ENSEMBL: ENSMUSP00000126540 (fasta)

Gene Model

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

AlphaFold

Q3USZ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098973
AA Change: Y126N

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096572
Gene: ENSMUSG00000074502
AA Change: Y126N

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

possibly damaging
Transcript: ENSMUST00000164441
AA Change: Y126N

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129611
Gene: ENSMUSG00000074502
AA Change: Y126N

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

possibly damaging
Transcript: ENSMUST00000169398
AA Change: Y126N

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126540
Gene: ENSMUSG00000074502
AA Change: Y126N

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	A	G	1: 60,473,442 (GRCm39)	Y53C	probably damaging	Het
Acacb	T	A	5: 114,304,076 (GRCm39)	D166E	probably damaging	Het
Akap8l	T	C	17: 32,557,495 (GRCm39)		probably null	Het
Arl6ip5	A	G	6: 97,206,611 (GRCm39)	Y97C	probably damaging	Het
Atad5	T	A	11: 80,024,936 (GRCm39)	S1772R	probably benign	Het
Ccdc106	A	G	7: 5,062,645 (GRCm39)	Q155R	probably damaging	Het
Ccdc33	T	C	9: 57,983,861 (GRCm39)	N446S	probably benign	Het
Cdh2	T	C	18: 16,783,477 (GRCm39)	D84G	probably benign	Het
Cntn6	A	G	6: 104,836,387 (GRCm39)	K918E	probably damaging	Het
Dock6	T	C	9: 21,750,122 (GRCm39)	D521G	probably damaging	Het
Dync2i1	C	A	12: 116,219,681 (GRCm39)	R87L	probably benign	Het
Etv6	C	T	6: 134,225,696 (GRCm39)	A309V	probably benign	Het
Ezh1	G	T	11: 101,090,166 (GRCm39)	H529Q	probably damaging	Het
Figla	T	C	6: 85,994,345 (GRCm39)	L40P	probably damaging	Het
Gabra4	T	A	5: 71,790,939 (GRCm39)	Q301L	probably damaging	Het
Glt1d1	G	A	5: 127,783,984 (GRCm39)	V313M	possibly damaging	Het
Gm28778	T	A	1: 53,357,120 (GRCm39)	I94K	possibly damaging	Het
Gm4847	T	C	1: 166,469,765 (GRCm39)	K103E	probably benign	Het
Gne	A	G	4: 44,066,852 (GRCm39)	S23P	probably damaging	Het
Hipk2	A	G	6: 38,795,691 (GRCm39)	C186R	possibly damaging	Het
Lrp1b	C	T	2: 41,401,464 (GRCm39)	V283I	probably damaging	Het
Mcm10	A	T	2: 5,013,511 (GRCm39)	D40E	possibly damaging	Het
Morc2b	T	A	17: 33,356,387 (GRCm39)	I462F	possibly damaging	Het
Myh1	T	A	11: 67,101,441 (GRCm39)	I711N	probably damaging	Het
Oit3	A	G	10: 59,274,477 (GRCm39)	F108L	probably damaging	Het
Or4f4b	T	C	2: 111,313,816 (GRCm39)	F14L	probably benign	Het
Or8b49	T	A	9: 38,505,715 (GRCm39)	L66*	probably null	Het
Polr1g	T	C	7: 19,091,003 (GRCm39)	K368R	probably damaging	Het
Rbm19	A	G	5: 120,258,301 (GRCm39)	D172G	probably damaging	Het
Ribc2	A	G	15: 85,027,536 (GRCm39)	D339G	possibly damaging	Het
Rras2	C	A	7: 113,659,597 (GRCm39)	V56L	probably benign	Het
Scn2a	A	G	2: 65,594,002 (GRCm39)	E1617G	probably damaging	Het
Slc13a1	T	A	6: 24,118,030 (GRCm39)	M236L	probably benign	Het
Snrnp27	C	T	6: 86,659,955 (GRCm39)	R13H	unknown	Het
Srgap2	T	C	1: 131,224,173 (GRCm39)	K92E	probably damaging	Het
Suco	T	C	1: 161,684,428 (GRCm39)	K231E	possibly damaging	Het
Tll2	C	A	19: 41,087,088 (GRCm39)	E588*	probably null	Het
Tmem215	A	T	4: 40,473,940 (GRCm39)	I6L	possibly damaging	Het
Tnc	A	C	4: 63,884,909 (GRCm39)		probably benign	Het
Tob1	G	A	11: 94,105,052 (GRCm39)	G196D	probably benign	Het
Uck1	G	T	2: 32,148,149 (GRCm39)	Q192K	probably damaging	Het
Vdac3-ps1	A	G	13: 18,205,469 (GRCm39)		noncoding transcript	Het
Vmn1r88	C	T	7: 12,911,719 (GRCm39)	S25L	probably benign	Het
Vmn2r109	T	G	17: 20,761,342 (GRCm39)	I672L	probably benign	Het
Vmn2r23	T	C	6: 123,718,819 (GRCm39)	F724S	probably damaging	Het
Vmn2r54	A	T	7: 12,366,088 (GRCm39)	F282Y	probably damaging	Het
Vmn2r82	A	T	10: 79,215,057 (GRCm39)	I347F	probably benign	Het
Wasf2	G	A	4: 132,923,112 (GRCm39)	R474H	probably damaging	Het
Zmym5	T	C	14: 57,041,617 (GRCm39)	H162R	possibly 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
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
R4088:Ubtfl1	UTSW	9	18,321,264 (GRCm39)	missense	probably damaging	0.98
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

Posted On

2014-05-07