Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00703:Ufl1'

8432

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ufl1

Ensembl Gene

ENSMUSG00000040359

Gene Name

UFM1 specific ligase 1

Synonyms

Rcad, 1810074P20Rik, Maxer

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

IGL00703

Quality Score

Status

Chromosome

Chromosomal Location

25248600-25281821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25280631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 72 (V72A)

Ref Sequence

ENSEMBL: ENSMUSP00000100059 (fasta)

Gene Model

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

AlphaFold

Q8CCJ3

Predicted Effect

unknown
Transcript: ENSMUST00000038705
AA Change: S2P

SMART Domains

Protein: ENSMUSP00000042118
Gene: ENSMUSG00000040359
AA Change: S2P

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

possibly damaging
Transcript: ENSMUST00000102994
AA Change: V72A

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000100059
Gene: ENSMUSG00000040359
AA Change: V72A

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	A	T	8: 43,973,216 (GRCm39)	D595E	probably damaging	Het
Bdkrb2	T	C	12: 105,558,614 (GRCm39)	V285A	probably benign	Het
Cdc42se1	A	G	3: 95,139,856 (GRCm39)		probably benign	Het
Dimt1	T	C	13: 107,089,938 (GRCm39)		probably benign	Het
Gpx8	T	C	13: 113,182,047 (GRCm39)	N129D	possibly damaging	Het
Ikbke	A	T	1: 131,183,039 (GRCm39)		probably benign	Het
Mast4	C	A	13: 102,907,275 (GRCm39)	E558*	probably null	Het
Mybpc1	T	C	10: 88,360,970 (GRCm39)		probably null	Het
Nrg3	T	A	14: 38,092,758 (GRCm39)	D609V	probably damaging	Het
Palmd	A	G	3: 116,721,040 (GRCm39)		probably benign	Het
Ppp1r3a	T	C	6: 14,718,407 (GRCm39)	T836A	probably benign	Het
Ptms	T	C	6: 124,891,919 (GRCm39)		probably benign	Het
Rnf170	A	G	8: 26,615,946 (GRCm39)	N79S	probably damaging	Het
Slc15a2	T	C	16: 36,578,153 (GRCm39)	I379V	probably benign	Het
Slco1b2	A	T	6: 141,601,078 (GRCm39)	T134S	probably damaging	Het
Tg	G	A	15: 66,568,338 (GRCm39)	V1342I	probably benign	Het
Tsc22d1	A	G	14: 76,742,268 (GRCm39)	R38G	possibly damaging	Het
Ugt2b35	A	T	5: 87,156,051 (GRCm39)	Y381F	probably benign	Het
Vil1	T	C	1: 74,463,119 (GRCm39)	L434P	possibly damaging	Het

Other mutations in Ufl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Ufl1	APN	4	25,262,238 (GRCm39)	missense	probably damaging	1.00
IGL00928:Ufl1	APN	4	25,267,790 (GRCm39)	missense	probably damaging	1.00
IGL00949:Ufl1	APN	4	25,275,822 (GRCm39)	missense	probably damaging	0.99
IGL02179:Ufl1	APN	4	25,254,896 (GRCm39)	missense	probably damaging	0.99
IGL02228:Ufl1	APN	4	25,281,686 (GRCm39)	missense	probably benign
IGL02237:Ufl1	APN	4	25,269,082 (GRCm39)	missense	probably benign	0.01
IGL02294:Ufl1	APN	4	25,259,281 (GRCm39)	nonsense	probably null
IGL02331:Ufl1	APN	4	25,251,971 (GRCm39)	missense	probably damaging	1.00
IGL02374:Ufl1	APN	4	25,259,237 (GRCm39)	missense	probably benign	0.01
IGL02541:Ufl1	APN	4	25,250,534 (GRCm39)	missense	possibly damaging	0.56
IGL03053:Ufl1	APN	4	25,275,833 (GRCm39)	missense	probably damaging	0.99
R0054:Ufl1	UTSW	4	25,269,087 (GRCm39)	missense	probably damaging	0.96
R0054:Ufl1	UTSW	4	25,269,087 (GRCm39)	missense	probably damaging	0.96
R0164:Ufl1	UTSW	4	25,256,008 (GRCm39)	missense	probably benign	0.00
R0164:Ufl1	UTSW	4	25,256,008 (GRCm39)	missense	probably benign	0.00
R0172:Ufl1	UTSW	4	25,280,685 (GRCm39)	missense	probably benign	0.32
R2069:Ufl1	UTSW	4	25,269,036 (GRCm39)	missense	possibly damaging	0.75
R4320:Ufl1	UTSW	4	25,278,601 (GRCm39)	splice site	probably null
R4467:Ufl1	UTSW	4	25,254,806 (GRCm39)	missense	probably damaging	1.00
R4993:Ufl1	UTSW	4	25,267,832 (GRCm39)	missense	possibly damaging	0.70
R5049:Ufl1	UTSW	4	25,254,773 (GRCm39)	missense	probably benign	0.17
R5071:Ufl1	UTSW	4	25,254,780 (GRCm39)	missense	probably benign
R5072:Ufl1	UTSW	4	25,254,780 (GRCm39)	missense	probably benign
R5073:Ufl1	UTSW	4	25,254,780 (GRCm39)	missense	probably benign
R5099:Ufl1	UTSW	4	25,275,914 (GRCm39)	missense	probably damaging	0.99
R5108:Ufl1	UTSW	4	25,269,026 (GRCm39)	critical splice donor site	probably null
R5127:Ufl1	UTSW	4	25,256,010 (GRCm39)	missense	probably benign	0.05
R5262:Ufl1	UTSW	4	25,251,294 (GRCm39)	intron	probably benign
R5409:Ufl1	UTSW	4	25,280,706 (GRCm39)	missense	probably damaging	1.00
R5942:Ufl1	UTSW	4	25,250,619 (GRCm39)	missense	probably benign
R6031:Ufl1	UTSW	4	25,278,038 (GRCm39)	missense	probably benign	0.09
R6031:Ufl1	UTSW	4	25,278,038 (GRCm39)	missense	probably benign	0.09
R6107:Ufl1	UTSW	4	25,251,999 (GRCm39)	missense	possibly damaging	0.88
R6157:Ufl1	UTSW	4	25,279,350 (GRCm39)	missense	possibly damaging	0.83
R6296:Ufl1	UTSW	4	25,270,572 (GRCm39)	missense	probably benign
R6360:Ufl1	UTSW	4	25,265,476 (GRCm39)	missense	probably benign
R6514:Ufl1	UTSW	4	25,262,238 (GRCm39)	missense	probably damaging	1.00
R6754:Ufl1	UTSW	4	25,267,796 (GRCm39)	nonsense	probably null
R6755:Ufl1	UTSW	4	25,262,316 (GRCm39)	missense	probably damaging	0.96
R7196:Ufl1	UTSW	4	25,250,669 (GRCm39)	missense	probably benign	0.05
R7247:Ufl1	UTSW	4	25,254,637 (GRCm39)	missense	probably damaging	1.00
R7287:Ufl1	UTSW	4	25,254,852 (GRCm39)	missense	probably benign	0.04
R7755:Ufl1	UTSW	4	25,262,274 (GRCm39)	missense	probably benign
R8156:Ufl1	UTSW	4	25,269,057 (GRCm39)	missense	probably damaging	1.00
R8235:Ufl1	UTSW	4	25,278,656 (GRCm39)	missense	probably benign	0.31
R8247:Ufl1	UTSW	4	25,250,606 (GRCm39)	missense	probably benign
R8933:Ufl1	UTSW	4	25,262,258 (GRCm39)	missense	possibly damaging	0.62
R9008:Ufl1	UTSW	4	25,254,778 (GRCm39)	nonsense	probably null
R9147:Ufl1	UTSW	4	25,278,712 (GRCm39)	splice site	probably benign
R9197:Ufl1	UTSW	4	25,250,519 (GRCm39)	missense	possibly damaging	0.50
R9404:Ufl1	UTSW	4	25,275,912 (GRCm39)	missense	probably benign	0.00
R9601:Ufl1	UTSW	4	25,275,807 (GRCm39)	missense	probably benign	0.22
RF037:Ufl1	UTSW	4	25,280,628 (GRCm39)	missense	possibly damaging	0.67
RF039:Ufl1	UTSW	4	25,280,628 (GRCm39)	missense	possibly damaging	0.67
V7732:Ufl1	UTSW	4	25,251,368 (GRCm39)	missense	probably damaging	0.98

Posted On

2012-12-06