Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02228:Ufl1'

285403

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ufl1

Ensembl Gene

ENSMUSG00000040359

Gene Name

UFM1 specific ligase 1

Synonyms

1810074P20Rik, Maxer, Rcad

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.932) question?

Stock #

IGL02228

Quality Score

Status

Chromosome

Chromosomal Location

25248600-25281821 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25281686 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 23 (S23T)

Ref Sequence

ENSEMBL: ENSMUSP00000100059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038705] [ENSMUST00000102994]

AlphaFold

Q8CCJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000038705

SMART Domains

Protein: ENSMUSP00000042118
Gene: ENSMUSG00000040359

Domain	Start	End	E-Value	Type
Pfam:DUF2042	2	205	1.5e-70	PFAM
low complexity region	334	344	N/A	INTRINSIC
low complexity region	348	358	N/A	INTRINSIC
low complexity region	364	374	N/A	INTRINSIC
low complexity region	375	385	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102994
AA Change: S23T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100059
Gene: ENSMUSG00000040359
AA Change: S23T

Domain	Start	End	E-Value	Type
Pfam:DUF2042	7	284	4.8e-117	PFAM
low complexity region	414	424	N/A	INTRINSIC
low complexity region	428	438	N/A	INTRINSIC
low complexity region	444	454	N/A	INTRINSIC
low complexity region	455	465	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142949

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality during organogensis, anemia and decreased erythroid progenitor cell number. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	T	C	12: 84,016,964	V282A	probably benign	Het
Acsm5	A	G	7: 119,531,866	D169G	probably damaging	Het
Adam8	C	T	7: 139,988,806		probably null	Het
Agpat1	T	C	17: 34,610,562	F37L	possibly damaging	Het
Asah2	A	T	19: 32,016,714	D410E	probably benign	Het
Atg2a	T	A	19: 6,246,800	V378D	probably benign	Het
Atp1a4	T	C	1: 172,254,885	Y130C	possibly damaging	Het
B020004J07Rik	T	C	4: 101,836,858	Y276C	probably benign	Het
Bnc2	T	C	4: 84,293,076	H419R	possibly damaging	Het
Capza3	A	G	6: 140,041,915	D80G	probably benign	Het
Col6a4	C	T	9: 106,068,078	D946N	probably benign	Het
Crat	T	C	2: 30,413,182	H31R	probably damaging	Het
Dsc2	A	G	18: 20,043,733	V419A	probably damaging	Het
Ebf1	T	C	11: 44,972,912	V363A	probably damaging	Het
Gm13119	A	G	4: 144,362,661	K183R	probably damaging	Het
Lcp2	T	C	11: 34,047,424	F24S	probably damaging	Het
Lgmn	G	A	12: 102,395,714	T376I	probably benign	Het
Lrrc8d	C	T	5: 105,811,864	L47F	probably benign	Het
Mier1	T	A	4: 103,131,062	M44K	possibly damaging	Het
Ogfod1	C	A	8: 94,062,987	Q439K	probably benign	Het
Olfr303	A	C	7: 86,395,078	I140S	possibly damaging	Het
Pcgf6	A	C	19: 47,047,982	F216C	probably damaging	Het
Pcnt	C	T	10: 76,389,474	R1732K	probably benign	Het
Rbbp4	A	T	4: 129,317,750	H370Q	probably damaging	Het
Reln	A	G	5: 21,904,731	V3127A	probably damaging	Het
Rttn	T	A	18: 89,042,231	V1019E	probably damaging	Het
Serpina9	C	T	12: 104,008,600	R98Q	probably benign	Het
Slc16a7	C	A	10: 125,230,798	G324V	probably damaging	Het
Slc22a3	A	G	17: 12,459,810	L209P	probably damaging	Het
Tet1	T	A	10: 62,813,734	T1695S	probably damaging	Het
Tulp3	G	A	6: 128,334,485	T74M	probably damaging	Het
Ube3a	A	G	7: 59,288,396		probably benign	Het
Unc80	A	G	1: 66,608,428	E1509G	possibly damaging	Het
Wnk2	A	T	13: 49,056,940	I1801N	probably damaging	Het

Other mutations in Ufl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00703:Ufl1	APN	4	25280631	missense	possibly damaging	0.67
IGL00899:Ufl1	APN	4	25262238	missense	probably damaging	1.00
IGL00928:Ufl1	APN	4	25267790	missense	probably damaging	1.00
IGL00949:Ufl1	APN	4	25275822	missense	probably damaging	0.99
IGL02179:Ufl1	APN	4	25254896	missense	probably damaging	0.99
IGL02237:Ufl1	APN	4	25269082	missense	probably benign	0.01
IGL02294:Ufl1	APN	4	25259281	nonsense	probably null
IGL02331:Ufl1	APN	4	25251971	missense	probably damaging	1.00
IGL02374:Ufl1	APN	4	25259237	missense	probably benign	0.01
IGL02541:Ufl1	APN	4	25250534	missense	possibly damaging	0.56
IGL03053:Ufl1	APN	4	25275833	missense	probably damaging	0.99
R0054:Ufl1	UTSW	4	25269087	missense	probably damaging	0.96
R0054:Ufl1	UTSW	4	25269087	missense	probably damaging	0.96
R0164:Ufl1	UTSW	4	25256008	missense	probably benign	0.00
R0164:Ufl1	UTSW	4	25256008	missense	probably benign	0.00
R0172:Ufl1	UTSW	4	25280685	missense	probably benign	0.32
R2069:Ufl1	UTSW	4	25269036	missense	possibly damaging	0.75
R4320:Ufl1	UTSW	4	25278601	splice site	probably null
R4467:Ufl1	UTSW	4	25254806	missense	probably damaging	1.00
R4993:Ufl1	UTSW	4	25267832	missense	possibly damaging	0.70
R5049:Ufl1	UTSW	4	25254773	missense	probably benign	0.17
R5071:Ufl1	UTSW	4	25254780	missense	probably benign
R5072:Ufl1	UTSW	4	25254780	missense	probably benign
R5073:Ufl1	UTSW	4	25254780	missense	probably benign
R5099:Ufl1	UTSW	4	25275914	missense	probably damaging	0.99
R5108:Ufl1	UTSW	4	25269026	critical splice donor site	probably null
R5127:Ufl1	UTSW	4	25256010	missense	probably benign	0.05
R5262:Ufl1	UTSW	4	25251294	intron	probably benign
R5409:Ufl1	UTSW	4	25280706	missense	probably damaging	1.00
R5942:Ufl1	UTSW	4	25250619	missense	probably benign
R6031:Ufl1	UTSW	4	25278038	missense	probably benign	0.09
R6031:Ufl1	UTSW	4	25278038	missense	probably benign	0.09
R6107:Ufl1	UTSW	4	25251999	missense	possibly damaging	0.88
R6157:Ufl1	UTSW	4	25279350	missense	possibly damaging	0.83
R6296:Ufl1	UTSW	4	25270572	missense	probably benign
R6360:Ufl1	UTSW	4	25265476	missense	probably benign
R6514:Ufl1	UTSW	4	25262238	missense	probably damaging	1.00
R6754:Ufl1	UTSW	4	25267796	nonsense	probably null
R6755:Ufl1	UTSW	4	25262316	missense	probably damaging	0.96
R7196:Ufl1	UTSW	4	25250669	missense	probably benign	0.05
R7247:Ufl1	UTSW	4	25254637	missense	probably damaging	1.00
R7287:Ufl1	UTSW	4	25254852	missense	probably benign	0.04
R7755:Ufl1	UTSW	4	25262274	missense	probably benign
R8156:Ufl1	UTSW	4	25269057	missense	probably damaging	1.00
R8235:Ufl1	UTSW	4	25278656	missense	probably benign	0.31
R8247:Ufl1	UTSW	4	25250606	missense	probably benign
R8933:Ufl1	UTSW	4	25262258	missense	possibly damaging	0.62
R9008:Ufl1	UTSW	4	25254778	nonsense	probably null
R9147:Ufl1	UTSW	4	25278712	splice site	probably benign
R9197:Ufl1	UTSW	4	25250519	missense	possibly damaging	0.50
R9404:Ufl1	UTSW	4	25275912	missense	probably benign	0.00
R9601:Ufl1	UTSW	4	25275807	missense	probably benign	0.22
RF037:Ufl1	UTSW	4	25280628	missense	possibly damaging	0.67
RF039:Ufl1	UTSW	4	25280628	missense	possibly damaging	0.67
V7732:Ufl1	UTSW	4	25251368	missense	probably damaging	0.98

Posted On

2015-04-16