Mutagenetix > Incidental Mutation

Incidental Mutation 'R5073:Ufl1'

388953

Institutional Source

Beutler Lab

Gene Symbol

Ufl1

Ensembl Gene

ENSMUSG00000040359

Gene Name

UFM1 specific ligase 1

Synonyms

Rcad, 1810074P20Rik, Maxer

MMRRC Submission

042662-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R5073 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25248600-25281821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25254780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 559 (Y559H)

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: Y479H

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

SMART Domains

Protein: ENSMUSP00000042118
Gene: ENSMUSG00000040359
AA Change: Y479H

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: Y559H

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

SMART Domains

Protein: ENSMUSP00000100059
Gene: ENSMUSG00000040359
AA Change: Y559H

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 92.6%

Validation Efficiency

100% (113/113)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Adcy8	A	T	15: 64,659,207 (GRCm39)	W528R	probably damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Ahnak	T	A	19: 8,980,595 (GRCm39)	H626Q	probably benign	Het
Ampd2	A	T	3: 107,986,549 (GRCm39)	M245K	probably damaging	Het
Apob	G	A	12: 8,055,219 (GRCm39)		probably null	Het
Apool	C	T	X: 111,259,540 (GRCm39)	Q60*	probably null	Het
Aqp1	A	T	6: 55,322,520 (GRCm39)	I172F	probably damaging	Het
Atp7a	A	G	X: 105,153,374 (GRCm39)	D1092G	probably benign	Het
Bcas3	A	G	11: 85,261,958 (GRCm39)	Y110C	probably damaging	Het
Brpf1	T	C	6: 113,287,215 (GRCm39)	S148P	probably damaging	Het
Capn3	A	G	2: 120,322,301 (GRCm39)	H339R	probably damaging	Het
Ccdc141	A	T	2: 76,954,722 (GRCm39)		probably null	Het
Ccl2	A	G	11: 81,927,984 (GRCm39)		probably benign	Het
Cct8l1	G	A	5: 25,721,881 (GRCm39)	V199I	probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cit	T	A	5: 116,084,902 (GRCm39)	M811K	probably benign	Het
Crim1	T	C	17: 78,588,776 (GRCm39)	C284R	possibly damaging	Het
Cyp2d10	C	T	15: 82,287,954 (GRCm39)	R383H	probably benign	Het
Cyp4a29	A	G	4: 115,104,860 (GRCm39)	T123A	probably benign	Het
Dbndd2	A	G	2: 164,332,224 (GRCm39)		probably benign	Het
Dnaja3	A	T	16: 4,514,289 (GRCm39)	T274S	probably damaging	Het
Dot1l	A	G	10: 80,620,480 (GRCm39)	D514G	possibly damaging	Het
Dysf	A	T	6: 84,114,254 (GRCm39)	K1226M	probably damaging	Het
Eef1akmt1	A	G	14: 57,803,464 (GRCm39)	L30P	probably damaging	Het
Elavl1	A	G	8: 4,351,741 (GRCm39)	M125T	possibly damaging	Het
Eml4	C	A	17: 83,771,006 (GRCm39)	S723R	probably damaging	Het
Fgf15	A	C	7: 144,450,576 (GRCm39)	Y54S	possibly damaging	Het
Fign	A	T	2: 63,810,037 (GRCm39)	L411*	probably null	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fryl	G	A	5: 73,232,110 (GRCm39)	P1550L	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gprasp2	C	T	X: 134,743,346 (GRCm39)	T235I	possibly damaging	Het
H2ab3	T	C	X: 119,222,543 (GRCm39)	T84A	probably damaging	Het
Hal	A	T	10: 93,349,904 (GRCm39)	I555F	probably damaging	Het
Hdac6	A	G	X: 7,811,036 (GRCm39)	F104L	probably damaging	Het
Hibadh	C	T	6: 52,597,079 (GRCm39)	V122M	possibly damaging	Het
Hmga1b	C	T	11: 120,654,012 (GRCm39)	Q100*	probably null	Het
Hydin	A	G	8: 111,265,105 (GRCm39)	N2763D	probably benign	Het
Ifi47	A	G	11: 48,986,361 (GRCm39)	T43A	probably benign	Het
Ifnlr1	A	G	4: 135,432,457 (GRCm39)	T298A	probably benign	Het
Impdh2	G	A	9: 108,440,535 (GRCm39)		probably null	Het
Insr	A	G	8: 3,209,475 (GRCm39)	F1203L	probably damaging	Het
Kcnq4	A	G	4: 120,574,714 (GRCm39)	S117P	probably damaging	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Kif1a	T	C	1: 92,950,227 (GRCm39)	H1400R	probably damaging	Het
Kiss1r	C	A	10: 79,754,596 (GRCm39)	S30*	probably null	Het
Krt222	T	A	11: 99,134,796 (GRCm39)		probably benign	Het
Lekr1	A	T	3: 65,727,215 (GRCm39)		noncoding transcript	Het
Ltn1	A	G	16: 87,224,628 (GRCm39)	V32A	probably damaging	Het
Marchf1	T	A	8: 66,839,020 (GRCm39)	W21R	probably benign	Het
Marchf5	A	G	19: 37,188,207 (GRCm39)	N58S	possibly damaging	Het
Mast4	G	A	13: 102,875,391 (GRCm39)	Q1158*	probably null	Het
Mib2	C	G	4: 155,741,233 (GRCm39)	A535P	probably damaging	Het
Mrtfa	A	G	15: 80,906,627 (GRCm39)	V91A	probably damaging	Het
Msc	C	T	1: 14,824,537 (GRCm39)	V178M	probably benign	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Muc5b	A	T	7: 141,412,999 (GRCm39)	T1982S	unknown	Het
Mvk	A	T	5: 114,591,013 (GRCm39)		probably benign	Het
Myo1a	T	C	10: 127,543,288 (GRCm39)		probably null	Het
Myo6	T	G	9: 80,195,290 (GRCm39)	S887A	probably benign	Het
Myo7a	G	A	7: 97,722,425 (GRCm39)	Q1167*	probably null	Het
Ncald	A	T	15: 37,397,478 (GRCm39)	H67Q	probably damaging	Het
Nmnat1	C	A	4: 149,553,595 (GRCm39)	M172I	probably benign	Het
Nudt1	G	T	5: 140,317,662 (GRCm39)		probably null	Het
Nudt5	T	A	2: 5,869,198 (GRCm39)	H141Q	probably benign	Het
Or1m1	T	C	9: 18,666,118 (GRCm39)	E271G	possibly damaging	Het
Or4e1	T	A	14: 52,701,032 (GRCm39)	M118L	probably damaging	Het
Or8h10	A	T	2: 86,808,666 (GRCm39)	V158D	possibly damaging	Het
Parp14	A	T	16: 35,655,077 (GRCm39)	I1798K	probably damaging	Het
Pcdhga7	A	G	18: 37,849,025 (GRCm39)	D344G	probably damaging	Het
Pck1	A	G	2: 172,998,770 (GRCm39)	T343A	probably benign	Het
Pik3c2g	T	A	6: 139,665,873 (GRCm39)	C65S	probably null	Het
Pilra	A	G	5: 137,833,674 (GRCm39)	F131L	probably damaging	Het
Ppl	A	T	16: 4,906,742 (GRCm39)	S1184R	probably benign	Het
Prmt2	C	T	10: 76,058,390 (GRCm39)	V140I	probably damaging	Het
Prpf38b	A	G	3: 108,818,484 (GRCm39)	F92S	probably damaging	Het
Psmc3	A	G	2: 90,884,915 (GRCm39)		probably benign	Het
Ptgs1	A	T	2: 36,141,272 (GRCm39)	N573I	probably damaging	Het
Rgs9	C	A	11: 109,118,157 (GRCm39)	A332S	probably benign	Het
Rptor	T	C	11: 119,787,305 (GRCm39)	I1290T	possibly damaging	Het
Slc38a7	C	A	8: 96,568,278 (GRCm39)	R369L	probably damaging	Het
Slc4a2	G	A	5: 24,643,760 (GRCm39)	S855N	probably benign	Het
Slco2a1	G	T	9: 102,923,925 (GRCm39)	L46F	probably damaging	Het
Snrpd3	G	T	10: 75,355,227 (GRCm39)	C20F	possibly damaging	Het
Stab2	A	T	10: 86,699,422 (GRCm39)	I481N	probably benign	Het
Tbc1d9	A	G	8: 83,960,176 (GRCm39)	E143G	probably damaging	Het
Tenm2	T	A	11: 35,959,208 (GRCm39)	T1114S	probably damaging	Het
Tg	A	C	15: 66,607,101 (GRCm39)	M213L	probably benign	Het
Tnc	A	G	4: 63,938,648 (GRCm39)	C64R	probably damaging	Het
Tpd52l1	A	G	10: 31,233,916 (GRCm39)	L79S	probably damaging	Het
Tpp2	C	A	1: 43,993,896 (GRCm39)	S260R	possibly damaging	Het
Tppp2	G	A	14: 52,157,912 (GRCm39)	R119Q	probably benign	Het
Tshz2	A	T	2: 169,804,493 (GRCm39)		probably benign	Het
Tuba8	T	C	6: 121,199,862 (GRCm39)	V182A	probably damaging	Het
Usp53	A	T	3: 122,727,595 (GRCm39)	S996T	probably benign	Het
Vcam1	A	G	3: 115,918,037 (GRCm39)	V308A	probably damaging	Het
Wdr17	T	A	8: 55,143,271 (GRCm39)		probably null	Het
Wdr6	G	A	9: 108,451,565 (GRCm39)	H773Y	probably damaging	Het
Wnk4	T	G	11: 101,152,014 (GRCm39)	F173V	probably damaging	Het
Xrcc5	T	C	1: 72,378,188 (GRCm39)	Y395H	probably damaging	Het
Zcwpw1	T	A	5: 137,793,781 (GRCm39)	M1K	probably null	Het
Zfp263	A	G	16: 3,564,704 (GRCm39)	R240G	possibly damaging	Het
Zfp652	A	G	11: 95,640,890 (GRCm39)	I272V	possibly damaging	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
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
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'- ACATCACTTGTAATGGCTGCAG -3'
(R):5'- AACCATATTTATCTTGTCCCAGGCC -3'

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

Posted On

2016-06-06