Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01886:Ubtfl1'

179130

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: 0.156) question?

Stock #

IGL01886

Quality Score

Status

Chromosome

Chromosomal Location

18315714-18322798 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18321017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 182 (V182M)

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: V182M

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096572
Gene: ENSMUSG00000074502
AA Change: V182M

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: V182M

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129611
Gene: ENSMUSG00000074502
AA Change: V182M

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: V182M

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126540
Gene: ENSMUSG00000074502
AA Change: V182M

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	C	T	12: 112,625,592 (GRCm39)	V136M	probably benign	Het
Ankrd34c	A	T	9: 89,612,318 (GRCm39)	L8M	possibly damaging	Het
Anks6	C	A	4: 47,044,850 (GRCm39)	W352L	probably damaging	Het
Arhgap12	A	T	18: 6,027,613 (GRCm39)	N768K	probably damaging	Het
Clec7a	A	T	6: 129,440,140 (GRCm39)		probably benign	Het
Cyp3a13	G	A	5: 137,897,082 (GRCm39)	P411S	probably damaging	Het
Elavl2	A	G	4: 91,152,330 (GRCm39)	V129A	probably damaging	Het
Ercc6	T	A	14: 32,291,537 (GRCm39)	S994T	possibly damaging	Het
Esco1	T	A	18: 10,595,262 (GRCm39)	K8I	probably damaging	Het
Esr1	T	A	10: 4,806,861 (GRCm39)	I259K	probably damaging	Het
Filip1l	A	G	16: 57,391,613 (GRCm39)	I734V	possibly damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Grin3a	T	A	4: 49,702,814 (GRCm39)	I891F	probably damaging	Het
Kat7	T	C	11: 95,196,959 (GRCm39)	T27A	probably benign	Het
Kdm1a	A	G	4: 136,288,327 (GRCm39)		probably null	Het
Kifc5b	T	C	17: 27,151,091 (GRCm39)	V663A	probably damaging	Het
Lama1	T	G	17: 68,114,792 (GRCm39)	S2314A	probably benign	Het
Lrrc69	C	T	4: 14,703,984 (GRCm39)	V279I	probably benign	Het
Mast3	A	T	8: 71,234,783 (GRCm39)	L774Q	possibly damaging	Het
Med27	C	A	2: 29,303,494 (GRCm39)	P9Q	probably damaging	Het
Myo5a	C	A	9: 75,076,372 (GRCm39)		probably benign	Het
Myoz1	T	C	14: 20,705,377 (GRCm39)	K14E	probably damaging	Het
Neb	T	C	2: 52,073,857 (GRCm39)		probably benign	Het
Nlrp1a	T	C	11: 71,014,327 (GRCm39)	T308A	probably benign	Het
Or1l4b	A	G	2: 37,036,521 (GRCm39)	Y99C	probably damaging	Het
Or8d2b	G	T	9: 38,788,844 (GRCm39)	C124F	probably damaging	Het
Orc1	T	A	4: 108,461,154 (GRCm39)		probably null	Het
Pnkp	G	A	7: 44,511,631 (GRCm39)	A76T	probably damaging	Het
Polr3h	T	C	15: 81,801,591 (GRCm39)	E95G	probably damaging	Het
Prpf40b	T	A	15: 99,202,328 (GRCm39)	M62K	unknown	Het
Prpf8	C	A	11: 75,386,570 (GRCm39)	Q1075K	probably benign	Het
Ptprg	A	G	14: 12,179,280 (GRCm38)	K766E	probably benign	Het
Rabgap1l	A	T	1: 160,169,612 (GRCm39)	N778K	probably damaging	Het
Riok3	T	A	18: 12,272,442 (GRCm39)	N204K	probably damaging	Het
Shank3	A	G	15: 89,415,866 (GRCm39)	K650E	probably damaging	Het
Sim1	T	A	10: 50,860,411 (GRCm39)	S758T	probably damaging	Het
Slu7	T	G	11: 43,330,087 (GRCm39)	N171K	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Sult6b2	A	G	6: 142,735,852 (GRCm39)		probably null	Het
Taf6l	C	T	19: 8,755,450 (GRCm39)		probably null	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het

Other mutations in Ubtfl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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