Mutagenetix > Incidental Mutation

Incidental Mutation 'R7300:Ubac2'

566940

Institutional Source

Beutler Lab

Gene Symbol

Ubac2

Ensembl Gene

ENSMUSG00000041765

Gene Name

ubiquitin associated domain containing 2

Synonyms

Phgdhl1, 1190008A14Rik

MMRRC Submission

045404-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7300 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122116032-122258446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122142586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 28 (L28P)

Ref Sequence

ENSEMBL: ENSMUSP00000043245 (fasta)

Gene Model

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

AlphaFold

Q8R1K1

Predicted Effect

probably damaging
Transcript: ENSMUST00000039803
AA Change: L28P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043245
Gene: ENSMUSG00000041765
AA Change: L28P

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: ENSMUST00000226998

Meta Mutation Damage Score

0.4401

Coding Region Coverage

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

Validation Efficiency

94% (45/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Adgrd1	T	C	5: 129,174,411 (GRCm39)		probably null	Het
Atr	T	C	9: 95,747,423 (GRCm39)	I235T	probably benign	Het
Bpifb5	A	G	2: 154,070,066 (GRCm39)	E172G	possibly damaging	Het
Btbd2	A	T	10: 80,480,100 (GRCm39)	I420N	probably damaging	Het
Ccdc141	G	A	2: 76,845,038 (GRCm39)	T1343I	probably benign	Het
Cd59b	A	T	2: 103,914,795 (GRCm39)	K64N	possibly damaging	Het
Cd63	A	G	10: 128,748,034 (GRCm39)	N144S	probably benign	Het
Cip2a	A	G	16: 48,834,217 (GRCm39)	K631E	probably damaging	Het
Col4a4	C	T	1: 82,464,361 (GRCm39)	R989Q	unknown	Het
Cyp4a31	A	G	4: 115,427,468 (GRCm39)	T225A	probably benign	Het
Dnah1	T	G	14: 30,991,798 (GRCm39)	E3068A	probably benign	Het
Fpgt	C	T	3: 154,792,612 (GRCm39)	V472I	probably damaging	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Homer3	T	C	8: 70,737,953 (GRCm39)	M1T	probably null	Het
Ighv1-4	T	C	12: 114,450,908 (GRCm39)	I67V	probably benign	Het
Il17ra	A	G	6: 120,459,063 (GRCm39)	D738G	probably benign	Het
Il2ra	A	G	2: 11,681,721 (GRCm39)	T109A	not run	Het
Itgb6	T	C	2: 60,435,650 (GRCm39)	D700G	probably benign	Het
Krt31	T	C	11: 99,938,612 (GRCm39)	E327G	probably damaging	Het
Large1	A	C	8: 73,564,224 (GRCm39)	L514R	probably damaging	Het
Map3k8	C	T	18: 4,349,076 (GRCm39)	V81M	probably damaging	Het
Mstn	T	C	1: 53,103,239 (GRCm39)	S192P	probably benign	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or13a27	A	T	7: 139,925,268 (GRCm39)	N211K	probably damaging	Het
Or2n1c	A	C	17: 38,519,588 (GRCm39)	T151P	possibly damaging	Het
Or2y1c	C	T	11: 49,361,473 (GRCm39)	T165I	probably benign	Het
Or52i2	A	G	7: 102,319,417 (GRCm39)	S97G	probably benign	Het
Or7g17	T	C	9: 18,768,530 (GRCm39)	I194T	not run	Het
Or8k25	T	C	2: 86,244,330 (GRCm39)	E22G	probably null	Het
Pde4a	T	C	9: 21,117,618 (GRCm39)	S627P	probably damaging	Het
Pdxdc1	A	G	16: 13,697,374 (GRCm39)	I102T	probably damaging	Het
Phldb2	A	G	16: 45,645,925 (GRCm39)	S174P	probably damaging	Het
Pla2g4e	C	T	2: 120,021,680 (GRCm39)	V143I	probably damaging	Het
Pou4f2	C	T	8: 79,162,735 (GRCm39)		probably null	Het
Ppl	C	T	16: 4,920,235 (GRCm39)	V387M	possibly damaging	Het
Pramel43	A	T	5: 94,760,655 (GRCm39)	D340E	probably benign	Het
Rarg	A	T	15: 102,160,852 (GRCm39)		probably null	Het
Ryr1	T	C	7: 28,758,936 (GRCm39)	Y3414C	probably damaging	Het
Serpinb8	T	A	1: 107,535,053 (GRCm39)	*375K	probably null	Het
Sim1	C	T	10: 50,785,614 (GRCm39)	H228Y	probably benign	Het
Spag4	A	T	2: 155,907,541 (GRCm39)	H87L	probably benign	Het
Ttc17	A	T	2: 94,205,479 (GRCm39)	L289Q	probably damaging	Het
Vmn2r31	C	A	7: 7,387,775 (GRCm39)	A599S	possibly damaging	Het
Vps13c	T	C	9: 67,847,826 (GRCm39)	V2196A	probably benign	Het
Zswim5	A	T	4: 116,833,102 (GRCm39)	I612F	probably damaging	Het
Zzef1	T	A	11: 72,765,830 (GRCm39)	H1452Q	probably benign	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
R8084:Ubac2	UTSW	14	122,220,717 (GRCm39)	missense	probably benign
R9047:Ubac2	UTSW	14	122,145,626 (GRCm39)	missense	probably benign	0.18
R9560:Ubac2	UTSW	14	122,145,636 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AAGCCTTTCCAGAGAGTCGTG -3'
(R):5'- ACTTTAGGGGTTTTGAGAGACTAAG -3'

Sequencing Primer
(F):5'- TGTTTCAGGAAGAGCTAAATGCCTG -3'
(R):5'- TTTTGAGAGACTAAGGAACTGTAGG -3'

Posted On

2019-06-26