Mutagenetix > Incidental Mutation

Incidental Mutation 'R2164:Uba5'

235363

Institutional Source

Beutler Lab

Gene Symbol

Uba5

Ensembl Gene

ENSMUSG00000032557

Gene Name

ubiquitin-like modifier activating enzyme 5

Synonyms

5730525G14Rik, Ube1dc1

MMRRC Submission

040167-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103923798-103940333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103937442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 89 (M89K)

Ref Sequence

ENSEMBL: ENSMUSP00000035166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035166] [ENSMUST00000047799] [ENSMUST00000120854] [ENSMUST00000140768] [ENSMUST00000144195] [ENSMUST00000189998]

AlphaFold

Q8VE47

Predicted Effect

probably damaging
Transcript: ENSMUST00000035166
AA Change: M89K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035166
Gene: ENSMUSG00000032557
AA Change: M89K

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
Pfam:ThiF	51	309	2.8e-48	PFAM
low complexity region	317	332	N/A	INTRINSIC
low complexity region	343	353	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000047799

SMART Domains

Protein: ENSMUSP00000043424
Gene: ENSMUSG00000090150

Domain	Start	End	E-Value	Type
Pfam:APH	43	307	3.5e-45	PFAM
Pfam:Acyl-CoA_dh_N	376	498	1.5e-13	PFAM
Pfam:Acyl-CoA_dh_M	502	605	1.7e-21	PFAM
Pfam:Acyl-CoA_dh_1	617	768	2.7e-36	PFAM
Pfam:Acyl-CoA_dh_2	632	743	2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120854

SMART Domains

Protein: ENSMUSP00000112994
Gene: ENSMUSG00000090150

Domain	Start	End	E-Value	Type
Pfam:APH	1	188	1.1e-28	PFAM
Pfam:EcKinase	49	143	4.8e-9	PFAM
Pfam:Acyl-CoA_dh_N	257	380	8.7e-15	PFAM
Pfam:Acyl-CoA_dh_M	385	439	2.4e-19	PFAM
Pfam:Acyl-CoA_dh_1	499	650	1.3e-37	PFAM
Pfam:Acyl-CoA_dh_2	514	632	2.7e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000140768
AA Change: M89K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118734
Gene: ENSMUSG00000032557
AA Change: M89K

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
Pfam:ThiF	70	101	1.5e-8	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000144195
AA Change: M89K

SMART Domains

Protein: ENSMUSP00000118535
Gene: ENSMUSG00000032557
AA Change: M89K

Domain	Start	End	E-Value	Type
Pfam:ThiF	1	119	1.9e-22	PFAM
low complexity region	220	235	N/A	INTRINSIC
low complexity region	246	256	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147249

SMART Domains

Protein: ENSMUSP00000115381
Gene: ENSMUSG00000101152

Domain	Start	End	E-Value	Type
Pfam:TPR_12	1	48	3e-14	PFAM
Pfam:TPR_12	12	75	2.1e-14	PFAM
Pfam:TPR_10	15	56	7.8e-13	PFAM
Pfam:TPR_1	16	49	4.4e-9	PFAM
Pfam:TPR_7	18	58	7e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191568

Predicted Effect

unknown
Transcript: ENSMUST00000214222
AA Change: M75K

Predicted Effect

probably benign
Transcript: ENSMUST00000189998

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele die at E12.5. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Targeted, other(1)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	CTGTAGGAAATCTTCAATGT	CTGT	11: 110,101,019 (GRCm39)		probably null	Het
Adcy8	C	T	15: 64,792,783 (GRCm39)	G58S	probably benign	Het
Adgra2	T	A	8: 27,604,232 (GRCm39)	L24*	probably null	Het
Ampd2	C	A	3: 107,992,685 (GRCm39)		probably benign	Het
Ankrd26	T	G	6: 118,502,752 (GRCm39)	E806A	probably damaging	Het
Apol9b	A	G	15: 77,619,639 (GRCm39)	D145G	probably benign	Het
Ash1l	T	A	3: 88,892,726 (GRCm39)	M1535K	probably benign	Het
Atf6	A	G	1: 170,622,304 (GRCm39)	M439T	probably damaging	Het
B3glct	A	T	5: 149,677,621 (GRCm39)	M417L	probably damaging	Het
Cep192	A	T	18: 67,953,431 (GRCm39)	T483S	probably damaging	Het
Cep290	G	A	10: 100,354,657 (GRCm39)	E914K	probably damaging	Het
Chst15	C	T	7: 131,872,114 (GRCm39)	A56T	probably damaging	Het
Col27a1	A	T	4: 63,143,661 (GRCm39)	T450S	probably benign	Het
Cpsf2	A	G	12: 101,951,594 (GRCm39)	N177S	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Ctc1	C	T	11: 68,926,441 (GRCm39)	A859V	possibly damaging	Het
Dcakd	A	G	11: 102,888,183 (GRCm39)	Y134H	possibly damaging	Het
Dctn3	G	T	4: 41,723,065 (GRCm39)	Y22*	probably null	Het
Dync2h1	T	A	9: 7,124,797 (GRCm39)	D2025V	probably damaging	Het
Dync2li1	T	C	17: 84,943,702 (GRCm39)	S92P	probably damaging	Het
Eml5	A	G	12: 98,853,356 (GRCm39)	V81A	probably damaging	Het
Espl1	C	T	15: 102,228,023 (GRCm39)	R1625C	probably damaging	Het
Fam181a	T	C	12: 103,282,785 (GRCm39)	V230A	probably benign	Het
Fanci	T	A	7: 79,045,743 (GRCm39)	D28E	probably benign	Het
Fmn1	A	G	2: 113,195,962 (GRCm39)	N554S	unknown	Het
Frem2	T	C	3: 53,444,751 (GRCm39)	Y2460C	probably damaging	Het
Fscb	G	A	12: 64,520,567 (GRCm39)	P300S	probably damaging	Het
Gm28042	A	G	2: 119,867,229 (GRCm39)	D438G	probably benign	Het
Ldaf1	A	G	7: 119,719,462 (GRCm39)	E157G	possibly damaging	Het
Map1b	C	T	13: 99,565,846 (GRCm39)	V2292M	unknown	Het
Nbas	A	G	12: 13,380,647 (GRCm39)	D635G	possibly damaging	Het
Ncapg2	A	G	12: 116,414,095 (GRCm39)		probably null	Het
Nrp2	A	T	1: 62,783,514 (GRCm39)	E205V	probably damaging	Het
Pcdhb3	A	T	18: 37,435,239 (GRCm39)	T402S	possibly damaging	Het
Phc1	T	C	6: 122,299,296 (GRCm39)	N638D	possibly damaging	Het
Plcb1	A	G	2: 135,188,250 (GRCm39)	N781S	possibly damaging	Het
Prkdc	T	A	16: 15,523,071 (GRCm39)	D1164E	probably damaging	Het
Proser2	T	A	2: 6,105,506 (GRCm39)	R353W	possibly damaging	Het
Prxl2b	T	G	4: 154,982,606 (GRCm39)	Y56S	probably damaging	Het
Ptges	T	A	2: 30,782,708 (GRCm39)	T115S	probably benign	Het
Ptprk	A	T	10: 28,436,138 (GRCm39)	D833V	probably damaging	Het
Pum1	T	A	4: 130,455,394 (GRCm39)	L173*	probably null	Het
Pum1	G	T	4: 130,455,395 (GRCm39)	L269F	probably damaging	Het
Rasgrp4	A	G	7: 28,838,470 (GRCm39)	Y106C	probably damaging	Het
Rbbp6	T	A	7: 122,598,697 (GRCm39)		probably benign	Het
Rdh1	A	G	10: 127,596,041 (GRCm39)	T79A	possibly damaging	Het
Relb	A	C	7: 19,347,686 (GRCm39)		probably null	Het
Rnf122	G	A	8: 31,602,192 (GRCm39)	W6*	probably null	Het
Rnf31	A	G	14: 55,829,994 (GRCm39)	E138G	possibly damaging	Het
Scaf8	G	A	17: 3,247,485 (GRCm39)	R936Q	probably damaging	Het
Scube3	T	A	17: 28,385,108 (GRCm39)	V686D	possibly damaging	Het
Snrnp27	A	T	6: 86,653,196 (GRCm39)	C141S	probably benign	Het
Spns2	C	T	11: 72,349,497 (GRCm39)	V252M	possibly damaging	Het
Tomm40l	C	T	1: 171,047,703 (GRCm39)	S220N	probably damaging	Het
Trim17	A	G	11: 58,862,237 (GRCm39)	D423G	probably damaging	Het
Trpc6	A	AT	9: 8,610,466 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,360,226 (GRCm39)	R481Q	possibly damaging	Het
Vav2	T	C	2: 27,163,718 (GRCm39)	D628G	probably damaging	Het
Vmn2r107	T	C	17: 20,595,904 (GRCm39)	L819P	probably damaging	Het
Vmn2r25	A	T	6: 123,816,518 (GRCm39)	D354E	possibly damaging	Het
Xrn1	A	G	9: 95,888,873 (GRCm39)	E984G	possibly damaging	Het
Zbtb17	T	C	4: 141,191,557 (GRCm39)	V223A	probably benign	Het
Zfp592	T	C	7: 80,691,186 (GRCm39)	S1122P	possibly damaging	Het

Other mutations in Uba5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02238:Uba5	APN	9	103,931,259 (GRCm39)	splice site	probably benign
IGL02891:Uba5	APN	9	103,931,392 (GRCm39)	splice site	probably benign
IGL03182:Uba5	APN	9	103,931,328 (GRCm39)	missense	possibly damaging	0.78
3-1:Uba5	UTSW	9	103,937,591 (GRCm39)	critical splice donor site	probably null
PIT4810001:Uba5	UTSW	9	103,932,396 (GRCm39)	missense	probably damaging	1.00
R0033:Uba5	UTSW	9	103,931,347 (GRCm39)	missense	probably benign	0.01
R0033:Uba5	UTSW	9	103,931,347 (GRCm39)	missense	probably benign	0.01
R0745:Uba5	UTSW	9	103,926,710 (GRCm39)	unclassified	probably benign
R1018:Uba5	UTSW	9	103,927,102 (GRCm39)	missense	probably benign	0.00
R1163:Uba5	UTSW	9	103,933,025 (GRCm39)	missense	possibly damaging	0.70
R1771:Uba5	UTSW	9	103,927,107 (GRCm39)	missense	probably damaging	1.00
R3916:Uba5	UTSW	9	103,931,389 (GRCm39)	missense	probably damaging	1.00
R5072:Uba5	UTSW	9	103,931,626 (GRCm39)	missense	probably damaging	1.00
R5177:Uba5	UTSW	9	103,926,497 (GRCm39)	missense	probably benign
R5563:Uba5	UTSW	9	103,926,446 (GRCm39)	missense	probably benign	0.18
R6606:Uba5	UTSW	9	103,932,420 (GRCm39)	missense	probably damaging	1.00
R7258:Uba5	UTSW	9	103,940,132 (GRCm39)	missense	unknown
R7337:Uba5	UTSW	9	103,932,454 (GRCm39)	missense	possibly damaging	0.72
R9546:Uba5	UTSW	9	103,931,567 (GRCm39)	missense	probably damaging	0.99
R9547:Uba5	UTSW	9	103,931,567 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGAGCCTTTGTCTGGAGAAAG -3'
(R):5'- TTTCCTTTAAGCCGTCTGATGG -3'

Sequencing Primer
(F):5'- CTGGAGAAAGTTATGACTCGGCCTC -3'
(R):5'- CCGTCTGATGGCATTGAAAC -3'

Posted On

2014-10-01