Mutagenetix > Incidental Mutation

Incidental Mutation 'R7905:Ufc1'

610205

Institutional Source

Beutler Lab

Gene Symbol

Ufc1

Ensembl Gene

ENSMUSG00000062963

Gene Name

ubiquitin-fold modifier conjugating enzyme 1

Synonyms

ESTM29, 1110021H02Rik

MMRRC Submission

045957-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.785) question?

Stock #

R7905 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

171116137-171122575 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 171117508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 68 (K68N)

Ref Sequence

ENSEMBL: ENSMUSP00000078914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065941] [ENSMUST00000080001] [ENSMUST00000111302] [ENSMUST00000111305] [ENSMUST00000111306] [ENSMUST00000144576] [ENSMUST00000149187]

AlphaFold

Q9CR09

Predicted Effect

probably benign
Transcript: ENSMUST00000065941

SMART Domains

Protein: ENSMUSP00000064002
Gene: ENSMUSG00000053483

Domain	Start	End	E-Value	Type
low complexity region	49	63	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	150	160	N/A	INTRINSIC
Pfam:UCH	211	556	9.4e-66	PFAM
Pfam:UCH_1	212	538	9.6e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000080001
AA Change: K68N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078914
Gene: ENSMUSG00000062963
AA Change: K68N

Domain	Start	End	E-Value	Type
Pfam:UFC1	4	164	1.3e-93	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111302
AA Change: K68N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106933
Gene: ENSMUSG00000062963
AA Change: K68N

Domain	Start	End	E-Value	Type
Pfam:UFC1	6	160	1.3e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111305

SMART Domains

Protein: ENSMUSP00000106936
Gene: ENSMUSG00000053483

Domain	Start	End	E-Value	Type
low complexity region	49	63	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	150	160	N/A	INTRINSIC
Pfam:UCH	211	556	9.4e-66	PFAM
Pfam:UCH_1	212	538	9.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111306

SMART Domains

Protein: ENSMUSP00000106938
Gene: ENSMUSG00000053483

Domain	Start	End	E-Value	Type
low complexity region	49	63	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	150	160	N/A	INTRINSIC
Pfam:UCH	211	559	4.1e-60	PFAM
Pfam:UCH_1	215	541	3.6e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144576
AA Change: K68N

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137977
Gene: ENSMUSG00000062963
AA Change: K68N

Domain	Start	End	E-Value	Type
Pfam:UFC1	4	91	2e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149187

SMART Domains

Protein: ENSMUSP00000120161
Gene: ENSMUSG00000053483

Domain	Start	End	E-Value	Type
low complexity region	49	63	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	150	160	N/A	INTRINSIC
Pfam:UCH	211	438	1e-36	PFAM
Pfam:UCH_1	212	436	2.1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174720

SMART Domains

Protein: ENSMUSP00000133362
Gene: ENSMUSG00000053483

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
low complexity region	21	36	N/A	INTRINSIC
low complexity region	40	57	N/A	INTRINSIC
Pfam:UCH	77	162	4.6e-18	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (44/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	T	C	17: 33,652,801 (GRCm39)	V287A	possibly damaging	Het
Adcy10	T	A	1: 165,340,737 (GRCm39)		probably null	Het
Aox1	G	A	1: 58,143,557 (GRCm39)	S1225N	possibly damaging	Het
B430306N03Rik	T	A	17: 48,623,988 (GRCm39)	S96R	probably benign	Het
Bpifa5	T	C	2: 154,007,508 (GRCm39)	I150T	probably damaging	Het
Ccdc28a	A	T	10: 18,094,076 (GRCm39)	V181D	probably benign	Het
Cd40	T	C	2: 164,904,245 (GRCm39)	Y31H	probably damaging	Het
Cep290	A	G	10: 100,390,352 (GRCm39)	T2032A	probably benign	Het
Cnbd1	T	C	4: 18,907,100 (GRCm39)	K158R	possibly damaging	Het
Degs1	A	C	1: 182,106,601 (GRCm39)	N255K	possibly damaging	Het
Dll3	T	G	7: 28,000,960 (GRCm39)	I32L	possibly damaging	Het
Dsg4	A	T	18: 20,587,726 (GRCm39)	I278F	probably damaging	Het
Ets2	T	A	16: 95,507,304 (GRCm39)	I6N	probably damaging	Het
Gbp4	A	G	5: 105,268,953 (GRCm39)	F400S	probably damaging	Het
Golgb1	C	T	16: 36,734,047 (GRCm39)	A1139V	probably benign	Het
Hfm1	A	T	5: 107,046,419 (GRCm39)	L489H	probably damaging	Het
Kcna5	T	C	6: 126,511,831 (GRCm39)	D99G	probably benign	Het
Ldhc	A	G	7: 46,524,955 (GRCm39)		probably null	Het
Mief1	C	G	15: 80,133,599 (GRCm39)	P219A	probably damaging	Het
Myh11	A	T	16: 14,025,545 (GRCm39)	Y1408*	probably null	Het
Myo1b	A	G	1: 51,803,043 (GRCm39)		probably null	Het
Nedd4	A	T	9: 72,584,661 (GRCm39)	K121*	probably null	Het
Nek9	A	C	12: 85,352,370 (GRCm39)	M831R	probably damaging	Het
Nf1	G	A	11: 79,437,938 (GRCm39)	A83T	possibly damaging	Het
Or6c203	A	T	10: 129,010,056 (GRCm39)	I278N	probably damaging	Het
Osbpl10	T	C	9: 114,891,078 (GRCm39)		probably null	Het
Pcdhb6	T	C	18: 37,467,607 (GRCm39)	L176P	probably benign	Het
Plxnb1	G	A	9: 108,938,300 (GRCm39)	V1285M	probably damaging	Het
Psg26	T	A	7: 18,209,242 (GRCm39)	M389L	probably benign	Het
Slc49a4	G	A	16: 35,589,320 (GRCm39)	P98S	probably benign	Het
Slc4a10	A	G	2: 62,098,495 (GRCm39)	E543G	probably damaging	Het
Spata31h1	A	G	10: 82,131,936 (GRCm39)	I358T	probably benign	Het
Spink7	G	T	18: 62,725,487 (GRCm39)	C85*	probably null	Het
Stard9	T	C	2: 120,526,562 (GRCm39)	W940R	not run	Het
Susd2	A	T	10: 75,475,491 (GRCm39)	L471*	probably null	Het
Taf2	A	T	15: 54,910,828 (GRCm39)	D615E	possibly damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tfdp2	T	C	9: 96,192,659 (GRCm39)	S14P		Het
Tha1	A	C	11: 117,761,893 (GRCm39)	V116G	possibly damaging	Het
Trim46	T	C	3: 89,151,633 (GRCm39)	H50R	probably damaging	Het
Trit1	A	G	4: 122,910,508 (GRCm39)	K36E	probably damaging	Het
Ttc13	A	T	8: 125,415,335 (GRCm39)	M268K	probably benign	Het
Zbbx	T	C	3: 74,992,820 (GRCm39)	T225A	probably benign	Het
Zfp768	T	C	7: 126,943,831 (GRCm39)	E102G	probably damaging	Het

Other mutations in Ufc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02641:Ufc1	APN	1	171,117,764 (GRCm39)	missense	probably damaging	1.00
R0452:Ufc1	UTSW	1	171,117,527 (GRCm39)	unclassified	probably benign
R1226:Ufc1	UTSW	1	171,116,810 (GRCm39)	missense	probably benign
R2314:Ufc1	UTSW	1	171,116,821 (GRCm39)	missense	probably damaging	1.00
R3821:Ufc1	UTSW	1	171,117,172 (GRCm39)	unclassified	probably benign
R4642:Ufc1	UTSW	1	171,117,467 (GRCm39)	missense	probably benign	0.27
R4855:Ufc1	UTSW	1	171,122,375 (GRCm39)	utr 5 prime	probably benign
R5390:Ufc1	UTSW	1	171,117,746 (GRCm39)	missense	probably damaging	1.00
R6382:Ufc1	UTSW	1	171,122,248 (GRCm39)	missense	probably damaging	1.00
R6419:Ufc1	UTSW	1	171,116,529 (GRCm39)	missense	probably damaging	1.00
R8794:Ufc1	UTSW	1	171,117,095 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACACCAGGATTCTAGGCACAG -3'
(R):5'- GGCTTGAGCAATCTGGTATCTC -3'

Sequencing Primer
(F):5'- TTCTAGGCACAGAGATTAGCAACTC -3'
(R):5'- GCTTGAGCAATCTGGTATCTCATAAC -3'

Posted On

2019-12-20