Mutagenetix > Incidental Mutation

Incidental Mutation 'R9560:Ubac2'

720977

Institutional Source

Beutler Lab

Gene Symbol

Ubac2

Ensembl Gene

ENSMUSG00000041765

Gene Name

ubiquitin associated domain containing 2

Synonyms

Phgdhl1, 1190008A14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9560 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122116032-122258446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122145636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 98 (G98D)

Ref Sequence

ENSEMBL: ENSMUSP00000043245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039803] [ENSMUST00000055475] [ENSMUST00000226998]

AlphaFold

Q8R1K1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039803
AA Change: G98D

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043245
Gene: ENSMUSG00000041765
AA Change: G98D

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	92	114	N/A	INTRINSIC
transmembrane domain	129	151	N/A	INTRINSIC
transmembrane domain	164	186	N/A	INTRINSIC
low complexity region	261	269	N/A	INTRINSIC
UBA	307	344	1.11e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000055475

SMART Domains

Protein: ENSMUSP00000061410
Gene: ENSMUSG00000050350

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	286	4.3e-35	PFAM
low complexity region	307	324	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000226998
AA Change: V12I

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,839,082 (GRCm39)	R502G	probably damaging	Het
A930004D18Rik	G	A	2: 18,032,218 (GRCm39)		probably benign	Het
Abhd16b	T	A	2: 181,135,103 (GRCm39)	C2S	probably damaging	Het
Adam2	T	C	14: 66,275,102 (GRCm39)	M544V	probably benign	Het
Agbl3	T	A	6: 34,823,843 (GRCm39)	V841E	possibly damaging	Het
Aldh1l1	A	G	6: 90,536,825 (GRCm39)	D127G	probably damaging	Het
Ap1b1	G	A	11: 4,976,363 (GRCm39)	E464K	probably benign	Het
Cdh19	T	A	1: 110,821,004 (GRCm39)	E578V	possibly damaging	Het
Chat	G	A	14: 32,170,942 (GRCm39)	Q186*	probably null	Het
Cited4	A	G	4: 120,524,165 (GRCm39)	T56A	probably benign	Het
Cpt1a	T	C	19: 3,402,531 (GRCm39)	L63P	possibly damaging	Het
Havcr2	C	A	11: 46,347,164 (GRCm39)	A47E	probably benign	Het
Hdgfl1	C	T	13: 26,953,239 (GRCm39)	G278E	probably damaging	Het
Klf5	A	T	14: 99,539,034 (GRCm39)	Q149L	probably benign	Het
Klk10	A	G	7: 43,433,746 (GRCm39)	Y186C	probably damaging	Het
Krt79	C	T	15: 101,846,277 (GRCm39)	E224K	probably damaging	Het
Llgl2	A	G	11: 115,725,682 (GRCm39)	D10G	probably damaging	Het
Lrrc37a	C	T	11: 103,347,420 (GRCm39)	V3092I	unknown	Het
Minar1	G	T	9: 89,484,531 (GRCm39)	Q289K	probably benign	Het
Nbeal1	A	G	1: 60,368,544 (GRCm39)	T2630A	probably damaging	Het
Ncor1	T	C	11: 62,263,948 (GRCm39)	T485A	possibly damaging	Het
Olfr908	G	A	9: 38,427,385 (GRCm39)	S19N	probably benign	Het
Or10h1b	C	T	17: 33,395,868 (GRCm39)	T164M	probably damaging	Het
Or10h5	G	A	17: 33,434,986 (GRCm39)	H111Y	probably damaging	Het
Or4c104	A	C	2: 88,586,290 (GRCm39)	I243S	possibly damaging	Het
Patj	G	A	4: 98,570,289 (GRCm39)	E1705K	probably benign	Het
Pcdh17	T	A	14: 84,770,898 (GRCm39)	D1125E	probably benign	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Pnliprp2	T	C	19: 58,762,523 (GRCm39)	V376A	possibly damaging	Het
Pramel42	A	T	5: 94,685,640 (GRCm39)	R433S	possibly damaging	Het
Scn1a	A	T	2: 66,158,131 (GRCm39)	L414Q	probably damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Slc22a23	A	G	13: 34,381,851 (GRCm39)	V411A	possibly damaging	Het
Slco1c1	T	C	6: 141,515,076 (GRCm39)	V657A	probably benign	Het
Slco3a1	A	T	7: 74,153,931 (GRCm39)	Y214N	probably damaging	Het
Sned1	A	G	1: 93,202,110 (GRCm39)	T633A	probably damaging	Het
Tmem175	T	C	5: 108,789,693 (GRCm39)	F96S	probably damaging	Het
Tmf1	C	T	6: 97,147,293 (GRCm39)	E558K	possibly damaging	Het
Tsbp1	A	T	17: 34,663,016 (GRCm39)	Q103H	probably damaging	Het
Unc50	T	A	1: 37,476,248 (GRCm39)	V136D	possibly damaging	Het
Vmn1r49	T	A	6: 90,049,382 (GRCm39)	M207L	probably benign	Het
Zfp853	T	C	5: 143,275,080 (GRCm39)	E195G	unknown	Het
Zfyve9	A	T	4: 108,575,334 (GRCm39)	N582K	possibly damaging	Het

Other mutations in Ubac2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02573:Ubac2	APN	14	122,144,802 (GRCm39)	missense	possibly damaging	0.95
P0045:Ubac2	UTSW	14	122,211,008 (GRCm39)	splice site	probably benign
R0164:Ubac2	UTSW	14	122,246,329 (GRCm39)	splice site	probably benign
R0466:Ubac2	UTSW	14	122,211,031 (GRCm39)	missense	probably damaging	0.99
R0520:Ubac2	UTSW	14	122,231,754 (GRCm39)	missense	probably damaging	0.98
R1703:Ubac2	UTSW	14	122,142,582 (GRCm39)	missense	probably benign	0.13
R1840:Ubac2	UTSW	14	122,231,674 (GRCm39)	missense	probably benign	0.02
R2068:Ubac2	UTSW	14	122,145,691 (GRCm39)	nonsense	probably null
R4903:Ubac2	UTSW	14	122,231,650 (GRCm39)	missense	probably benign	0.01
R7192:Ubac2	UTSW	14	122,211,128 (GRCm39)	missense	probably damaging	1.00
R7300:Ubac2	UTSW	14	122,142,586 (GRCm39)	missense	probably damaging	0.99
R8084:Ubac2	UTSW	14	122,220,717 (GRCm39)	missense	probably benign
R9047:Ubac2	UTSW	14	122,145,626 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- CAGTTACGGCTCATTTCCCAG -3'
(R):5'- GCCAAACCGATCAGTTGGAG -3'

Sequencing Primer
(F):5'- CGGCTCATTTCCCAGTTTTGAAAAG -3'
(R):5'- GCTGGCCTGAAACTCACTATGTAG -3'

Posted On

2022-08-09