Mutagenetix > Incidental Mutation

Incidental Mutation 'R0164:Ufl1'

24023

Institutional Source

Beutler Lab

Gene Symbol

Ufl1

Ensembl Gene

ENSMUSG00000040359

Gene Name

UFM1 specific ligase 1

Synonyms

Rcad, 1810074P20Rik, Maxer

MMRRC Submission

038440-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

R0164 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

25248600-25281821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25256008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 504 (Y504N)

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: Y424N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000042118
Gene: ENSMUSG00000040359
AA Change: Y424N

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: Y504N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000100059
Gene: ENSMUSG00000040359
AA Change: Y504N

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

0.0594

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

98% (85/87)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	10: 95,630,440 (GRCm39)		probably null	Het
4930522L14Rik	T	C	5: 109,884,713 (GRCm39)	K382E	probably damaging	Het
Adck1	A	G	12: 88,422,280 (GRCm39)	E297G	probably damaging	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Aldh3a2	C	T	11: 61,139,714 (GRCm39)	V473I	probably benign	Het
Arfgef3	A	T	10: 18,523,663 (GRCm39)	I369K	possibly damaging	Het
Atl2	A	G	17: 80,161,260 (GRCm39)		probably benign	Het
Atp1b3	T	C	9: 96,220,762 (GRCm39)	I178V	possibly damaging	Het
Axdnd1	T	C	1: 156,205,956 (GRCm39)	E520G	possibly damaging	Het
Bahcc1	A	T	11: 120,175,900 (GRCm39)		probably benign	Het
BB019430	A	T	10: 58,540,093 (GRCm39)		noncoding transcript	Het
BC028528	A	T	3: 95,794,646 (GRCm39)		probably benign	Het
Btbd1	T	A	7: 81,450,751 (GRCm39)	Q343L	probably benign	Het
Catsper1	A	G	19: 5,389,503 (GRCm39)	T473A	possibly damaging	Het
Ccn4	T	C	15: 66,791,059 (GRCm39)	L287P	probably damaging	Het
Chmp6	G	A	11: 119,806,349 (GRCm39)		probably null	Het
Cstdc7	T	A	18: 42,306,608 (GRCm39)	D58E	probably damaging	Het
D130040H23Rik	T	C	8: 69,755,195 (GRCm39)	V200A	possibly damaging	Het
D830013O20Rik	C	T	12: 73,411,105 (GRCm39)		noncoding transcript	Het
Dcaf1	T	A	9: 106,721,344 (GRCm39)	S379T	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dhx58	T	C	11: 100,586,150 (GRCm39)	I624V	probably benign	Het
Disp3	T	C	4: 148,338,708 (GRCm39)	E821G	probably damaging	Het
Dlc1	T	A	8: 37,066,594 (GRCm39)	E464V	probably damaging	Het
Dnah10	G	A	5: 124,860,898 (GRCm39)	V2151I	probably damaging	Het
Dnah6	C	T	6: 73,165,518 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 30,967,639 (GRCm39)	G2617D	probably benign	Het
Dnah9	C	A	11: 65,809,630 (GRCm39)	E872*	probably null	Het
Dock9	T	C	14: 121,835,077 (GRCm39)	Y99C	probably damaging	Het
Dpy19l3	T	A	7: 35,416,071 (GRCm39)	I310F	probably damaging	Het
Fggy	A	T	4: 95,725,891 (GRCm39)	I137F	probably damaging	Het
Gli2	A	G	1: 118,818,013 (GRCm39)		probably benign	Het
Gm14421	A	T	2: 176,748,515 (GRCm39)		noncoding transcript	Het
Grin2a	A	G	16: 9,812,685 (GRCm39)		probably null	Het
Grin2b	A	G	6: 135,755,646 (GRCm39)		probably benign	Het
Incenp	A	G	19: 9,872,243 (GRCm39)	S72P	probably benign	Het
Ipo11	A	G	13: 107,046,702 (GRCm39)		probably benign	Het
Klc3	T	A	7: 19,128,851 (GRCm39)	N469Y	possibly damaging	Het
Lrrc42	A	G	4: 107,104,702 (GRCm39)	S88P	probably benign	Het
Lrrc49	G	A	9: 60,587,883 (GRCm39)	T93I	probably benign	Het
Ltn1	G	A	16: 87,202,407 (GRCm39)		probably benign	Het
Mlycd	A	T	8: 120,134,380 (GRCm39)	Q294L	probably damaging	Het
Mmrn1	T	A	6: 60,952,799 (GRCm39)		probably benign	Het
Mrpl22	T	A	11: 58,062,647 (GRCm39)	I19N	probably benign	Het
Msh3	T	A	13: 92,485,717 (GRCm39)	K202N	probably damaging	Het
N4bp2	T	C	5: 65,960,916 (GRCm39)		probably benign	Het
Ncam1	C	T	9: 49,479,709 (GRCm39)	D90N	probably damaging	Het
Nckap5	A	T	1: 125,952,144 (GRCm39)	D1405E	possibly damaging	Het
Ncoa2	A	G	1: 13,256,955 (GRCm39)		probably null	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nlrp1b	A	T	11: 71,054,925 (GRCm39)	W844R	probably damaging	Het
Nmnat1	G	T	4: 149,553,607 (GRCm39)	N168K	possibly damaging	Het
Or5b96	A	G	19: 12,867,809 (GRCm39)	L44P	probably damaging	Het
Ost4	T	C	5: 31,064,803 (GRCm39)	H26R	probably damaging	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Otogl	A	T	10: 107,710,391 (GRCm39)	I566N	probably damaging	Het
Pcyt1a	T	C	16: 32,289,004 (GRCm39)	S282P	probably damaging	Het
Prkcg	G	A	7: 3,377,635 (GRCm39)	E581K	probably damaging	Het
Ralgps2	A	G	1: 156,714,659 (GRCm39)		probably null	Het
Rnf157	A	G	11: 116,245,636 (GRCm39)		probably benign	Het
Scmh1	T	C	4: 120,387,062 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,391,417 (GRCm39)	H150R	possibly damaging	Het
Sh2b3	T	G	5: 121,967,100 (GRCm39)	T5P	probably damaging	Het
Skint6	A	T	4: 112,848,433 (GRCm39)		probably benign	Het
Slfn10-ps	T	C	11: 82,926,128 (GRCm39)		noncoding transcript	Het
Sspo	T	A	6: 48,471,128 (GRCm39)		probably benign	Het
Tcp1	T	A	17: 13,141,634 (GRCm39)		probably benign	Het
Tdp2	A	G	13: 25,022,222 (GRCm39)	M214V	probably damaging	Het
Tenm4	T	G	7: 96,378,547 (GRCm39)		probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem204	A	G	17: 25,277,324 (GRCm39)	I187T	probably damaging	Het
Tmem208	T	G	8: 106,061,326 (GRCm39)	D117E	probably benign	Het
Tnks1bp1	C	T	2: 84,889,565 (GRCm39)	P631S	possibly damaging	Het
Tomm70a	T	C	16: 56,968,184 (GRCm39)	V517A	probably damaging	Het
Ttc7	T	C	17: 87,687,323 (GRCm39)	V801A	probably damaging	Het
Txndc5	A	T	13: 38,691,929 (GRCm39)	C146S	probably damaging	Het
Ubac2	A	G	14: 122,246,329 (GRCm39)		probably benign	Het
Ube4b	G	T	4: 149,444,781 (GRCm39)	T493K	probably damaging	Het
Ugt1a6a	T	C	1: 88,066,992 (GRCm39)	V266A	possibly damaging	Het
Ugt1a6b	T	A	1: 88,035,189 (GRCm39)	C176S	probably damaging	Het
Ulk3	T	A	9: 57,497,969 (GRCm39)	I90N	probably damaging	Het
Unc13c	T	C	9: 73,602,174 (GRCm39)	I1357M	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vmn2r114	A	G	17: 23,528,800 (GRCm39)		probably null	Het
Vmn2r91	A	C	17: 18,326,399 (GRCm39)	N228T	probably benign	Het
Wdr43	T	G	17: 71,938,992 (GRCm39)		probably benign	Het
Zbtb6	G	T	2: 37,319,600 (GRCm39)	Y109*	probably null	Het
Zfp980	A	G	4: 145,428,567 (GRCm39)	D432G	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GTTTTGAGGTCAGTTGTACCCCTCC -3'
(R):5'- CCTGGTGAGGTATGCATTCTCTGC -3'

Sequencing Primer
(F):5'- ACGTCAGTGAGCACTTCAG -3'
(R):5'- GTATGCATTCTCTGCCTGGTC -3'

Posted On

2013-04-16