Mutagenetix > Incidental Mutation

Incidental Mutation 'R3718:Ubac1'

258777

Institutional Source

Beutler Lab

Gene Symbol

Ubac1

Ensembl Gene

ENSMUSG00000036352

Gene Name

ubiquitin associated domain containing 1

Synonyms

Kpc2, 1110033G07Rik, Ubadc1

MMRRC Submission

040710-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R3718 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25888555-25911759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25904953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 95 (R95H)

Ref Sequence

ENSEMBL: ENSMUSP00000040220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036509]

AlphaFold

Q8VDI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000036509
AA Change: R95H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040220
Gene: ENSMUSG00000036352
AA Change: R95H

Domain	Start	End	E-Value	Type
Blast:UBQ	14	94	2e-38	BLAST
low complexity region	108	123	N/A	INTRINSIC
UBA	193	230	2e-5	SMART
low complexity region	245	269	N/A	INTRINSIC
low complexity region	280	292	N/A	INTRINSIC
UBA	294	331	5.92e-8	SMART
STI1	357	396	1.85e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134990

Predicted Effect

probably benign
Transcript: ENSMUST00000136750

SMART Domains

Protein: ENSMUSP00000123115
Gene: ENSMUSG00000036352

Domain	Start	End	E-Value	Type
internal_repeat_1	10	37	4.39e-5	PROSPERO
UBA	128	165	2e-5	SMART
low complexity region	180	204	N/A	INTRINSIC
low complexity region	215	227	N/A	INTRINSIC
UBA	229	258	5.2e-1	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000146363
AA Change: R14H

SMART Domains

Protein: ENSMUSP00000117683
Gene: ENSMUSG00000036352
AA Change: R14H

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC
low complexity region	119	131	N/A	INTRINSIC
UBA	133	170	5.92e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146898

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148725

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150608

Meta Mutation Damage Score

0.1738

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	T	C	15: 41,729,689 (GRCm39)	D237G	probably benign	Het
Alas2	T	C	X: 149,343,726 (GRCm39)		probably benign	Het
Ano6	A	G	15: 95,811,260 (GRCm39)	D120G	probably damaging	Het
Aspm	T	C	1: 139,408,627 (GRCm39)	Y2505H	probably benign	Het
Aspm	G	A	1: 139,418,165 (GRCm39)	V2965I	probably benign	Het
Ccna2	A	T	3: 36,620,387 (GRCm39)	V285E	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnajc10	A	G	2: 80,155,089 (GRCm39)		probably benign	Het
Dpp3	A	G	19: 4,973,093 (GRCm39)		probably null	Het
Gng11	G	A	6: 4,008,078 (GRCm39)	R47H	probably benign	Het
Hivep1	C	T	13: 42,311,971 (GRCm39)	H1404Y	probably damaging	Het
Il18r1	A	G	1: 40,534,948 (GRCm39)	E381G	probably benign	Het
Il9	G	A	13: 56,627,264 (GRCm39)	T116I	probably damaging	Het
Kcnh1	A	G	1: 191,921,107 (GRCm39)	T129A	probably damaging	Het
Mroh7	T	C	4: 106,561,407 (GRCm39)	E612G	probably benign	Het
Nav1	A	T	1: 135,378,368 (GRCm39)	I1653K	probably damaging	Het
Neb	T	C	2: 52,167,482 (GRCm39)	E1948G	probably damaging	Het
Ntsr1	T	C	2: 180,184,499 (GRCm39)	F401L	probably benign	Het
Nup210	A	T	6: 90,997,162 (GRCm39)	D1626E	probably benign	Het
Or10q12	A	G	19: 13,746,428 (GRCm39)	R241G	probably damaging	Het
Or4k35	A	G	2: 111,100,571 (GRCm39)	V47A	probably benign	Het
Or8g26	A	G	9: 39,096,361 (GRCm39)	R293G	probably damaging	Het
Pign	A	G	1: 105,577,006 (GRCm39)		probably null	Het
Rad54l2	A	G	9: 106,570,726 (GRCm39)	V1198A	probably benign	Het
Sh3tc2	T	C	18: 62,123,414 (GRCm39)	V725A	probably benign	Het
Skint10	A	T	4: 112,603,936 (GRCm39)	W84R	probably damaging	Het
Slc40a1	G	T	1: 45,950,151 (GRCm39)	H434N	probably benign	Het
Trdv2-1	T	C	14: 54,183,995 (GRCm39)	Y76H	probably benign	Het
Trim43c	T	C	9: 88,727,030 (GRCm39)	S286P	probably benign	Het
Ttn	G	A	2: 76,575,558 (GRCm39)	P25112S	probably damaging	Het
Vps13d	A	G	4: 144,802,296 (GRCm39)	I405T	probably damaging	Het
Zc3hav1l	G	T	6: 38,272,060 (GRCm39)	S236R	probably damaging	Het

Other mutations in Ubac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01142:Ubac1	APN	2	25,896,580 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Ubac1	UTSW	2	25,896,609 (GRCm39)	missense	probably benign	0.16
R0029:Ubac1	UTSW	2	25,911,455 (GRCm39)	missense	probably benign	0.15
R0121:Ubac1	UTSW	2	25,898,871 (GRCm39)	critical splice donor site	probably null
R0178:Ubac1	UTSW	2	25,911,440 (GRCm39)	missense	possibly damaging	0.87
R1839:Ubac1	UTSW	2	25,897,750 (GRCm39)	missense	possibly damaging	0.70
R1891:Ubac1	UTSW	2	25,904,974 (GRCm39)	missense	probably benign	0.10
R3716:Ubac1	UTSW	2	25,904,953 (GRCm39)	missense	probably damaging	1.00
R3717:Ubac1	UTSW	2	25,904,953 (GRCm39)	missense	probably damaging	1.00
R4602:Ubac1	UTSW	2	25,888,989 (GRCm39)	missense	probably damaging	1.00
R6742:Ubac1	UTSW	2	25,895,418 (GRCm39)	missense	possibly damaging	0.89
R7134:Ubac1	UTSW	2	25,904,974 (GRCm39)	missense	probably benign	0.10
R8056:Ubac1	UTSW	2	25,897,909 (GRCm39)	missense	probably benign	0.06
R8922:Ubac1	UTSW	2	25,896,621 (GRCm39)	missense	probably damaging	1.00
R9469:Ubac1	UTSW	2	25,897,763 (GRCm39)	missense	probably damaging	1.00
RF022:Ubac1	UTSW	2	25,895,470 (GRCm39)	missense	probably damaging	1.00
Z1177:Ubac1	UTSW	2	25,911,565 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGATGAAGGGCCCCTTATAC -3'
(R):5'- GGAAGTCTGGGGTTGACATC -3'

Sequencing Primer
(F):5'- GATGAAGGGCCCCTTATACCACAC -3'
(R):5'- GAGGCAGAGTCTCTTGTTAAACCC -3'

Posted On

2015-01-23