Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4810001:Uba5'

556857

Institutional Source

Beutler Lab

Gene Symbol

Uba5

Ensembl Gene

ENSMUSG00000032557

Gene Name

ubiquitin-like modifier activating enzyme 5

Synonyms

5730525G14Rik, Ube1dc1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4810001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103923798-103940333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103932396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 189 (I189K)

Ref Sequence

ENSEMBL: ENSMUSP00000035166 (fasta)

Gene Model

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

AlphaFold

Q8VE47

Predicted Effect

probably damaging
Transcript: ENSMUST00000035166
AA Change: I189K

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

SMART Domains

Protein: ENSMUSP00000035166
Gene: ENSMUSG00000032557
AA Change: I189K

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: ENSMUST00000140768

SMART Domains

Protein: ENSMUSP00000118734
Gene: ENSMUSG00000032557

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144195

SMART Domains

Protein: ENSMUSP00000118535
Gene: ENSMUSG00000032557

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

probably benign
Transcript: ENSMUST00000214222

Coding Region Coverage

1x: 93.8%
3x: 91.1%
10x: 85.1%
20x: 72.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,852,822 (GRCm39)	S105P	probably damaging	Het
Adtrp	C	T	13: 41,981,724 (GRCm39)	W48*	probably null	Het
Agxt2	A	T	15: 10,399,151 (GRCm39)	M413L	probably benign	Het
Ahnak2	T	A	12: 112,749,214 (GRCm39)	D211V		Het
Aplnr	T	A	2: 84,967,628 (GRCm39)	C218S	probably damaging	Het
Arhgdib	T	A	6: 136,901,162 (GRCm39)	E189V	probably damaging	Het
Atp10a	T	C	7: 58,463,596 (GRCm39)	I1043T	probably damaging	Het
Atp13a5	C	T	16: 29,133,382 (GRCm39)	C468Y	probably damaging	Het
Cars2	A	T	8: 11,564,699 (GRCm39)	C459S	probably benign	Het
Ccr3	T	A	9: 123,829,645 (GRCm39)	Y327N	probably benign	Het
Ceacam1	T	A	7: 25,171,400 (GRCm39)	I355F	probably damaging	Het
Celsr3	T	C	9: 108,722,932 (GRCm39)	L2773P	probably damaging	Het
Ces2g	A	T	8: 105,691,521 (GRCm39)	H192L	possibly damaging	Het
Cfap157	A	G	2: 32,671,444 (GRCm39)	F121L	probably damaging	Het
Champ1	G	A	8: 13,929,234 (GRCm39)	S464N	probably benign	Het
Clasp2	T	A	9: 113,735,135 (GRCm39)	L990Q	probably damaging	Het
Col6a3	A	T	1: 90,706,516 (GRCm39)	L2806Q	unknown	Het
Cpz	T	C	5: 35,665,536 (GRCm39)	E435G	possibly damaging	Het
Crbn	T	A	6: 106,761,440 (GRCm39)	R233*	probably null	Het
Ctc1	C	T	11: 68,913,352 (GRCm39)	T116I	probably benign	Het
Cyp4f17	T	C	17: 32,743,574 (GRCm39)	S314P	possibly damaging	Het
Dmxl1	A	G	18: 50,065,030 (GRCm39)	E2625G	probably damaging	Het
Dock7	T	A	4: 98,833,796 (GRCm39)	R1874*	probably null	Het
E130311K13Rik	A	T	3: 63,823,122 (GRCm39)	L174*	probably null	Het
Etnppl	A	G	3: 130,414,363 (GRCm39)	D86G	probably benign	Het
Fbxw18	C	A	9: 109,505,958 (GRCm39)	E438*	probably null	Het
Gpatch8	T	C	11: 102,372,668 (GRCm39)	N290S	unknown	Het
Gpr155	A	C	2: 73,178,607 (GRCm39)	L727R	probably benign	Het
Gpr158	C	G	2: 21,831,682 (GRCm39)	D927E	probably benign	Het
Igsf10	T	C	3: 59,225,903 (GRCm39)	Y2590C	probably damaging	Het
Ints7	A	G	1: 191,328,348 (GRCm39)	D207G	probably damaging	Het
Iqsec1	A	G	6: 90,647,473 (GRCm39)	L743P	probably damaging	Het
Kansl1l	A	T	1: 66,801,308 (GRCm39)	S553T	probably damaging	Het
Klhl14	G	T	18: 21,690,880 (GRCm39)	Y523*	probably null	Het
Krtap14	A	G	16: 88,622,515 (GRCm39)	S155P	probably damaging	Het
Lrrc3b	A	G	14: 15,358,273 (GRCm38)	V111A	probably benign	Het
Maml2	A	G	9: 13,531,320 (GRCm39)	N178S		Het
Megf8	G	A	7: 25,041,710 (GRCm39)	C1208Y	probably damaging	Het
Mocos	A	G	18: 24,819,759 (GRCm39)	D667G	probably damaging	Het
Nid2	A	G	14: 19,860,158 (GRCm39)	T1359A	possibly damaging	Het
Nup210	T	C	6: 91,007,106 (GRCm39)	E1357G	probably damaging	Het
Or2d2	A	T	7: 106,727,766 (GRCm39)	M278K	probably benign	Het
Or4a2	A	T	2: 89,248,297 (GRCm39)	H153Q	probably damaging	Het
Or9s15	T	A	1: 92,524,876 (GRCm39)	F212I	probably benign	Het
Pign	A	G	1: 105,525,487 (GRCm39)	V447A	possibly damaging	Het
Pomp	T	C	5: 147,806,229 (GRCm39)	L57P	probably benign	Het
Pou2af2	C	T	9: 51,202,992 (GRCm39)	G54D	possibly damaging	Het
Rbms3	T	A	9: 116,885,861 (GRCm39)	Y128F	probably damaging	Het
Slc12a4	A	G	8: 106,678,228 (GRCm39)	F322L	probably benign	Het
Slc16a9	T	A	10: 70,119,762 (GRCm39)	C468*	probably null	Het
Slc22a18	A	G	7: 143,046,668 (GRCm39)	I271V	probably benign	Het
Slc25a41	A	G	17: 57,346,933 (GRCm39)	V20A	possibly damaging	Het
Smim7	A	T	8: 73,324,857 (GRCm39)	L6Q	probably damaging	Het
Snx29	T	C	16: 11,218,845 (GRCm39)	V227A	probably damaging	Het
Sowaha	A	T	11: 53,369,290 (GRCm39)	L482Q	probably damaging	Het
Srp19	A	G	18: 34,467,523 (GRCm39)	Y68C	probably damaging	Het
Tecr	A	G	8: 84,298,884 (GRCm39)	S298P	probably damaging	Het
Terb2	T	A	2: 122,035,379 (GRCm39)	I200N	probably damaging	Het
Togaram1	G	A	12: 65,030,286 (GRCm39)	S1030N	probably damaging	Het
Trav7n-4	A	G	14: 53,329,193 (GRCm39)	M68V	probably benign	Het
Tshz1	A	C	18: 84,031,375 (GRCm39)	L1011R	possibly damaging	Het
Tubb3	A	G	8: 124,148,396 (GRCm39)	E443G	possibly damaging	Het
Vasn	A	G	16: 4,467,909 (GRCm39)	T619A	probably benign	Het
Wbp1l	A	G	19: 46,642,761 (GRCm39)	D254G	probably benign	Het
Zzef1	T	C	11: 72,741,571 (GRCm39)	F738L	probably 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
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
R2164:Uba5	UTSW	9	103,937,442 (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'- CTTTATCATAAGCAAGCGGGAC -3'
(R):5'- CTTCACAAATAGCATGACAATGTGC -3'

Sequencing Primer
(F):5'- TATCATAAGCAAGCGGGACACTGG -3'
(R):5'- GAGTGCCTCTGATGCCAACATTTG -3'

Posted On

2019-06-07