Mutagenetix > Incidental Mutation

Incidental Mutation 'R5049:Ufl1'

458159

Institutional Source

Beutler Lab

Gene Symbol

Ufl1

Ensembl Gene

ENSMUSG00000040359

Gene Name

UFM1 specific ligase 1

Synonyms

Rcad, 1810074P20Rik, Maxer

MMRRC Submission

042639-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R5049 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25248600-25281821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 25254773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 561 (A561E)

Ref Sequence

ENSEMBL: ENSMUSP00000100059 (fasta)

Gene Model

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

AlphaFold

Q8CCJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000038705
AA Change: A481E

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000042118
Gene: ENSMUSG00000040359
AA Change: A481E

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: A561E

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000100059
Gene: ENSMUSG00000040359
AA Change: A561E

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: ENSMUST00000124792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142949

Meta Mutation Damage Score

0.0948

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.8%
20x: 90.4%

Validation Efficiency

97% (89/92)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,321,698 (GRCm39)	S76P	probably damaging	Het
Acot8	A	G	2: 164,641,610 (GRCm39)		probably benign	Het
Angptl7	A	G	4: 148,582,468 (GRCm39)	F143L	probably benign	Het
Atxn7l1	A	G	12: 33,408,686 (GRCm39)	T283A	probably benign	Het
Bltp1	T	A	3: 37,094,655 (GRCm39)		probably benign	Het
Bltp1	T	C	3: 37,095,539 (GRCm39)	M1016T	probably damaging	Het
Brd3	G	T	2: 27,340,589 (GRCm39)		probably benign	Het
C130026L21Rik	T	A	5: 111,729,702 (GRCm39)		noncoding transcript	Het
Cbr4	T	G	8: 61,948,238 (GRCm39)		probably null	Het
Ccl19	A	G	4: 42,756,268 (GRCm39)		probably null	Het
Ccl2	G	T	11: 81,927,333 (GRCm39)	C34F	probably damaging	Het
Dnah12	A	T	14: 26,456,852 (GRCm39)	T873S	probably benign	Het
Dnah2	T	C	11: 69,338,992 (GRCm39)	N3118S	probably damaging	Het
Elapor2	A	G	5: 9,478,488 (GRCm39)	T451A	probably damaging	Het
Epb41l1	C	A	2: 156,366,859 (GRCm39)	P564Q	possibly damaging	Het
Extl3	A	T	14: 65,313,481 (GRCm39)	M567K	probably benign	Het
Fhip2a	T	C	19: 57,374,737 (GRCm39)	I704T	possibly damaging	Het
Foxf2	T	C	13: 31,811,158 (GRCm39)	S366P	probably benign	Het
Gamt	T	A	10: 80,094,788 (GRCm39)	T186S	probably benign	Het
Gcn1	T	A	5: 115,744,730 (GRCm39)	M1642K	probably damaging	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Golga1	A	T	2: 38,937,747 (GRCm39)	M115K	probably damaging	Het
Hapstr1	T	A	16: 8,661,073 (GRCm39)	D183E	probably damaging	Het
Herc3	A	G	6: 58,871,524 (GRCm39)		probably null	Het
Hes2	C	A	4: 152,244,331 (GRCm39)	L39I	possibly damaging	Het
Hopx	C	A	5: 77,242,899 (GRCm39)		probably benign	Het
Idi1	C	T	13: 8,938,078 (GRCm39)	P175S	probably damaging	Het
Ifit1bl1	A	T	19: 34,571,481 (GRCm39)	C325*	probably null	Het
Ighv7-3	T	C	12: 114,116,953 (GRCm39)	I70V	probably benign	Het
Kcnq3	T	C	15: 66,157,746 (GRCm39)	T110A	probably benign	Het
Kif5a	T	C	10: 127,075,708 (GRCm39)	D451G	possibly damaging	Het
Lama3	A	G	18: 12,715,668 (GRCm39)	E1708G	probably benign	Het
Lrriq4	T	A	3: 30,705,086 (GRCm39)	D371E	probably damaging	Het
Lyst	T	A	13: 13,810,649 (GRCm39)	V773E	probably damaging	Het
Map4	T	A	9: 109,908,882 (GRCm39)	L23*	probably null	Het
Mapkbp1	G	T	2: 119,845,982 (GRCm39)		probably benign	Het
Mrpl30	A	T	1: 37,936,791 (GRCm39)	D52V	possibly damaging	Het
Or10ag57	A	T	2: 87,219,002 (GRCm39)	T318S	probably benign	Het
Or13j1	A	T	4: 43,706,259 (GRCm39)	L103Q	probably damaging	Het
Pard3b	T	A	1: 62,200,320 (GRCm39)	H286Q	probably benign	Het
Parp4	A	G	14: 56,873,188 (GRCm39)	K1144R	possibly damaging	Het
Pdcd11	C	A	19: 47,095,554 (GRCm39)	S625R	probably benign	Het
Pkhd1l1	T	C	15: 44,321,012 (GRCm39)	S22P	probably benign	Het
Prss32	A	T	17: 24,078,221 (GRCm39)	E302D	possibly damaging	Het
Prss45	A	G	9: 110,669,538 (GRCm39)	K205E	probably damaging	Het
Puf60	T	A	15: 75,942,323 (GRCm39)	I500F	probably damaging	Het
Ryr3	A	T	2: 112,470,516 (GRCm39)	I4623N	probably damaging	Het
Sh3bp5l	T	A	11: 58,228,950 (GRCm39)		probably benign	Het
Slc3a1	T	G	17: 85,340,273 (GRCm39)	Y232D	probably damaging	Het
Slc8a3	A	G	12: 81,260,906 (GRCm39)	Y608H	probably damaging	Het
Socs7	G	T	11: 97,269,469 (GRCm39)	R429L	probably benign	Het
Sorcs3	C	A	19: 48,748,390 (GRCm39)	N786K	possibly damaging	Het
Sp4	A	T	12: 118,218,207 (GRCm39)	M680K	probably benign	Het
Tas2r131	T	C	6: 132,934,540 (GRCm39)	T90A	probably damaging	Het
Tasor2	A	T	13: 3,624,000 (GRCm39)	H1983Q	probably benign	Het
Tbx21	T	C	11: 97,005,536 (GRCm39)	H143R	probably benign	Het
Tg	T	A	15: 66,699,231 (GRCm39)	C833*	probably null	Het
Tmem245	A	G	4: 56,925,057 (GRCm39)	S355P	probably benign	Het
Tmem86b	G	A	7: 4,631,465 (GRCm39)	P191S	possibly damaging	Het
Tnc	A	G	4: 63,936,223 (GRCm39)	C238R	probably damaging	Het
Tnn	T	A	1: 159,968,308 (GRCm39)	E361D	probably benign	Het
Tpp2	T	C	1: 44,040,633 (GRCm39)	V298A	possibly damaging	Het
Trav7-6	A	G	14: 53,954,536 (GRCm39)	N22S	probably damaging	Het
Trim75	T	C	8: 65,435,091 (GRCm39)		probably null	Het
Trrap	T	A	5: 144,763,527 (GRCm39)	I2492N	probably damaging	Het
Uqcc1	A	G	2: 155,752,341 (GRCm39)	V86A	probably damaging	Het
Vmn1r184	A	G	7: 25,966,793 (GRCm39)	I180V	possibly damaging	Het
Vmn1r185	A	G	7: 26,310,920 (GRCm39)	F195S	possibly damaging	Het
Vmn2r4	A	C	3: 64,306,019 (GRCm39)		probably null	Het
Vmn2r87	T	C	10: 130,308,298 (GRCm39)	T647A	probably damaging	Het
Vps13d	A	T	4: 144,813,336 (GRCm39)	H198Q	probably damaging	Het
Wdfy4	T	C	14: 32,874,627 (GRCm39)	T154A	possibly damaging	Het
Xirp2	A	G	2: 67,347,478 (GRCm39)	M3240V	probably benign	Het
Zfp101	T	C	17: 33,600,872 (GRCm39)	R295G	possibly damaging	Het
Zfp619	G	A	7: 39,184,938 (GRCm39)	V323I	probably benign	Het
Zfy1	A	T	Y: 726,004 (GRCm39)	I587N	possibly damaging	Het
Zswim6	C	T	13: 107,863,110 (GRCm39)		noncoding transcript	Het

Other mutations in Ufl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00703:Ufl1	APN	4	25,280,631 (GRCm39)	missense	possibly damaging	0.67
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
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

Predicted Primers

PCR Primer
(F):5'- CATCACTTGTAATGGCTGCAGG -3'
(R):5'- TAACCATATTTATCTTGTCCCAGGC -3'

Sequencing Primer
(F):5'- TCCACTGCCATGAGGAAATCTGAG -3'
(R):5'- GTCCCAGGCCTCTTAATAAAATG -3'

Posted On

2017-02-17