Incidental Mutation 'R7007:Ubap2'
| ID |
544760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubap2
|
| Ensembl Gene |
ENSMUSG00000028433 |
| Gene Name |
ubiquitin-associated protein 2 |
| Synonyms |
1190005K07Rik |
| MMRRC Submission |
045109-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.225)
|
| Stock # |
R7007 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
41194313-41275144 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 41206221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 549
(F549L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030143]
[ENSMUST00000108068]
[ENSMUST00000135323]
|
| AlphaFold |
Q91VX2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030143
AA Change: F550L
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000030143
Gene: ENSMUSG00000028433
AA Change: F550L
| Domain | Start | End | E-Value | Type |
|---|
|
UBA
|
53 |
91 |
9.62e-8 |
SMART |
|
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
166 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
436 |
448 |
N/A |
INTRINSIC |
|
Pfam:DUF3697
|
512 |
544 |
1.5e-18 |
PFAM |
|
low complexity region
|
583 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
631 |
644 |
N/A |
INTRINSIC |
|
low complexity region
|
696 |
722 |
N/A |
INTRINSIC |
|
low complexity region
|
744 |
768 |
N/A |
INTRINSIC |
|
low complexity region
|
787 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
888 |
914 |
N/A |
INTRINSIC |
|
low complexity region
|
1007 |
1024 |
N/A |
INTRINSIC |
|
low complexity region
|
1057 |
1078 |
N/A |
INTRINSIC |
|
low complexity region
|
1084 |
1098 |
N/A |
INTRINSIC |
|
low complexity region
|
1101 |
1115 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108068
AA Change: F549L
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103703
Gene: ENSMUSG00000028433
AA Change: F549L
| Domain | Start | End | E-Value | Type |
|---|
|
UBA
|
52 |
90 |
9.62e-8 |
SMART |
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
165 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
447 |
N/A |
INTRINSIC |
|
Pfam:DUF3697
|
511 |
543 |
1.2e-20 |
PFAM |
|
low complexity region
|
582 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
695 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
743 |
767 |
N/A |
INTRINSIC |
|
low complexity region
|
786 |
799 |
N/A |
INTRINSIC |
|
low complexity region
|
887 |
913 |
N/A |
INTRINSIC |
|
low complexity region
|
1006 |
1023 |
N/A |
INTRINSIC |
|
low complexity region
|
1056 |
1077 |
N/A |
INTRINSIC |
|
low complexity region
|
1083 |
1097 |
N/A |
INTRINSIC |
|
low complexity region
|
1100 |
1114 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135323
|
| SMART Domains |
Protein: ENSMUSP00000122256
Gene: ENSMUSG00000028433
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
74 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
181 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
95% (63/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a UBA (ubiquitin associated) domain, which is characteristic of proteins that function in the ubiquitination pathway. This gene may show increased expression in the adrenal gland and lymphatic tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
C |
T |
14: 35,817,121 (GRCm39) |
T57I |
probably benign |
Het |
| Adcy8 |
T |
C |
15: 64,576,565 (GRCm39) |
N999S |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,684,483 (GRCm39) |
I1073F |
possibly damaging |
Het |
| Akap3 |
A |
G |
6: 126,843,439 (GRCm39) |
D686G |
probably damaging |
Het |
| Alg2 |
A |
T |
4: 47,471,881 (GRCm39) |
I309N |
probably benign |
Het |
| Ankrd36 |
A |
G |
11: 5,639,168 (GRCm39) |
E1360G |
probably benign |
Het |
| Aox1 |
C |
A |
1: 58,370,051 (GRCm39) |
Q788K |
probably damaging |
Het |
| Apoc2 |
A |
T |
7: 19,407,282 (GRCm39) |
D26E |
possibly damaging |
Het |
| Bbx |
G |
A |
16: 50,022,851 (GRCm39) |
T703I |
possibly damaging |
Het |
| C2cd4d |
T |
C |
3: 94,271,378 (GRCm39) |
Y215H |
probably benign |
Het |
| C3 |
C |
T |
17: 57,525,809 (GRCm39) |
E858K |
probably benign |
Het |
| Ciita |
T |
C |
16: 10,329,171 (GRCm39) |
L482P |
probably damaging |
Het |
| Cldn9 |
T |
C |
17: 23,902,052 (GRCm39) |
E191G |
probably benign |
Het |
| Cnst |
T |
A |
1: 179,438,133 (GRCm39) |
S566T |
probably damaging |
Het |
| Col5a2 |
A |
G |
1: 45,417,609 (GRCm39) |
I1322T |
possibly damaging |
Het |
| Cp |
G |
A |
3: 20,024,137 (GRCm39) |
V326M |
probably damaging |
Het |
| Cyp7b1 |
G |
A |
3: 18,151,782 (GRCm39) |
Q144* |
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,864,490 (GRCm39) |
S2232P |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,009,697 (GRCm39) |
E625G |
possibly damaging |
Het |
| Dnah7c |
T |
A |
1: 46,571,910 (GRCm39) |
D794E |
probably benign |
Het |
| Dusp10 |
G |
A |
1: 183,769,414 (GRCm39) |
V127M |
probably benign |
Het |
| Dysf |
G |
C |
6: 84,090,962 (GRCm39) |
W1015C |
probably damaging |
Het |
| Fbxw17 |
T |
C |
13: 50,577,808 (GRCm39) |
Y104H |
probably damaging |
Het |
| Gm6408 |
G |
A |
5: 146,420,647 (GRCm39) |
E176K |
probably damaging |
Het |
| Gp1bb |
T |
A |
16: 18,439,689 (GRCm39) |
D135V |
possibly damaging |
Het |
| Gprin1 |
C |
T |
13: 54,886,069 (GRCm39) |
C735Y |
probably damaging |
Het |
| Heatr9 |
T |
A |
11: 83,411,446 (GRCm39) |
M30L |
possibly damaging |
Het |
| Hhat |
G |
A |
1: 192,376,134 (GRCm39) |
T333I |
possibly damaging |
Het |
| Htr5b |
A |
G |
1: 121,438,223 (GRCm39) |
F336S |
probably damaging |
Het |
| Ippk |
T |
G |
13: 49,590,181 (GRCm39) |
|
probably null |
Het |
| Jph1 |
T |
A |
1: 17,074,410 (GRCm39) |
H11L |
possibly damaging |
Het |
| Kif12 |
T |
A |
4: 63,084,717 (GRCm39) |
I534L |
probably benign |
Het |
| Lemd3 |
A |
T |
10: 120,788,137 (GRCm39) |
F523I |
probably benign |
Het |
| Lgsn |
C |
A |
1: 31,229,508 (GRCm39) |
H76Q |
probably benign |
Het |
| Lipm |
T |
A |
19: 34,089,497 (GRCm39) |
W152R |
probably damaging |
Het |
| Mei1 |
A |
T |
15: 81,978,200 (GRCm39) |
R216W |
probably damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,389,274 (GRCm39) |
G379S |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,179,142 (GRCm39) |
T512A |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,337,849 (GRCm39) |
|
probably null |
Het |
| Npc1 |
T |
C |
18: 12,343,605 (GRCm39) |
T463A |
probably benign |
Het |
| Or12e10 |
A |
G |
2: 87,640,230 (GRCm39) |
N22S |
probably damaging |
Het |
| Or2y13 |
G |
A |
11: 49,415,011 (GRCm39) |
V154M |
probably benign |
Het |
| Or6c7 |
A |
T |
10: 129,323,277 (GRCm39) |
I133F |
probably damaging |
Het |
| Osbpl11 |
T |
G |
16: 33,047,309 (GRCm39) |
I424R |
possibly damaging |
Het |
| Pnma8b |
A |
T |
7: 16,680,181 (GRCm39) |
K388N |
possibly damaging |
Het |
| Ppp1r26 |
A |
T |
2: 28,341,171 (GRCm39) |
K267I |
probably damaging |
Het |
| Psmb5 |
A |
T |
14: 54,854,166 (GRCm39) |
M104K |
probably damaging |
Het |
| Ptges2 |
T |
C |
2: 32,292,318 (GRCm39) |
V378A |
probably benign |
Het |
| Rcan2 |
C |
T |
17: 44,147,216 (GRCm39) |
S18F |
probably benign |
Het |
| Saxo5 |
A |
T |
8: 3,526,309 (GRCm39) |
D154V |
probably damaging |
Het |
| Sf3b2 |
C |
T |
19: 5,324,545 (GRCm39) |
R859Q |
probably benign |
Het |
| Slc7a1 |
G |
A |
5: 148,289,256 (GRCm39) |
|
|
Het |
| Spata31d1a |
T |
A |
13: 59,851,448 (GRCm39) |
T227S |
probably benign |
Het |
| Sptbn2 |
T |
A |
19: 4,794,173 (GRCm39) |
V1459E |
possibly damaging |
Het |
| Srgap2 |
T |
C |
1: 131,247,275 (GRCm39) |
I586V |
probably benign |
Het |
| St6galnac1 |
G |
A |
11: 116,657,833 (GRCm39) |
R356* |
probably null |
Het |
| Taf5 |
T |
A |
19: 47,059,650 (GRCm39) |
F265I |
probably damaging |
Het |
| Tkfc |
T |
A |
19: 10,573,727 (GRCm39) |
I229L |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,436,679 (GRCm39) |
L56Q |
probably damaging |
Het |
| Togaram2 |
C |
T |
17: 72,016,638 (GRCm39) |
A665V |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,537,390 (GRCm39) |
T34846I |
probably benign |
Het |
| Tyr |
G |
A |
7: 87,142,548 (GRCm39) |
A4V |
probably benign |
Het |
| Usp2 |
T |
C |
9: 44,001,339 (GRCm39) |
S294P |
probably damaging |
Het |
| Vrk3 |
A |
G |
7: 44,407,187 (GRCm39) |
N53D |
probably damaging |
Het |
| Zfp324 |
T |
C |
7: 12,705,142 (GRCm39) |
S444P |
probably damaging |
Het |
| Zfp597 |
T |
C |
16: 3,683,791 (GRCm39) |
I322V |
probably benign |
Het |
|
| Other mutations in Ubap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01011:Ubap2
|
APN |
4 |
41,195,328 (GRCm39) |
splice site |
probably benign |
|
|
IGL01109:Ubap2
|
APN |
4 |
41,195,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01354:Ubap2
|
APN |
4 |
41,207,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01563:Ubap2
|
APN |
4 |
41,195,998 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01602:Ubap2
|
APN |
4 |
41,227,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01605:Ubap2
|
APN |
4 |
41,227,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01688:Ubap2
|
APN |
4 |
41,226,308 (GRCm39) |
missense |
probably benign |
|
|
IGL01733:Ubap2
|
APN |
4 |
41,195,862 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01896:Ubap2
|
APN |
4 |
41,202,362 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01942:Ubap2
|
APN |
4 |
41,251,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02095:Ubap2
|
APN |
4 |
41,229,709 (GRCm39) |
missense |
probably benign |
|
|
R0608:Ubap2
|
UTSW |
4 |
41,218,319 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0938:Ubap2
|
UTSW |
4 |
41,202,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1449:Ubap2
|
UTSW |
4 |
41,209,351 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1484:Ubap2
|
UTSW |
4 |
41,235,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1548:Ubap2
|
UTSW |
4 |
41,199,872 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1549:Ubap2
|
UTSW |
4 |
41,199,872 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1604:Ubap2
|
UTSW |
4 |
41,199,872 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1607:Ubap2
|
UTSW |
4 |
41,199,872 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1739:Ubap2
|
UTSW |
4 |
41,206,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1772:Ubap2
|
UTSW |
4 |
41,202,380 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1862:Ubap2
|
UTSW |
4 |
41,221,607 (GRCm39) |
missense |
probably benign |
|
|
R1869:Ubap2
|
UTSW |
4 |
41,233,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1886:Ubap2
|
UTSW |
4 |
41,199,872 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1887:Ubap2
|
UTSW |
4 |
41,199,872 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2063:Ubap2
|
UTSW |
4 |
41,199,872 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2064:Ubap2
|
UTSW |
4 |
41,199,872 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2065:Ubap2
|
UTSW |
4 |
41,199,872 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2066:Ubap2
|
UTSW |
4 |
41,199,872 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2095:Ubap2
|
UTSW |
4 |
41,206,901 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2214:Ubap2
|
UTSW |
4 |
41,199,714 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2215:Ubap2
|
UTSW |
4 |
41,196,483 (GRCm39) |
splice site |
probably null |
|
|
R2318:Ubap2
|
UTSW |
4 |
41,251,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3755:Ubap2
|
UTSW |
4 |
41,195,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4620:Ubap2
|
UTSW |
4 |
41,233,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Ubap2
|
UTSW |
4 |
41,218,333 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4756:Ubap2
|
UTSW |
4 |
41,211,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4942:Ubap2
|
UTSW |
4 |
41,245,461 (GRCm39) |
intron |
probably benign |
|
|
R5344:Ubap2
|
UTSW |
4 |
41,251,578 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5763:Ubap2
|
UTSW |
4 |
41,195,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5851:Ubap2
|
UTSW |
4 |
41,206,268 (GRCm39) |
nonsense |
probably null |
|
|
R5951:Ubap2
|
UTSW |
4 |
41,205,753 (GRCm39) |
splice site |
probably null |
|
|
R6178:Ubap2
|
UTSW |
4 |
41,206,981 (GRCm39) |
missense |
probably benign |
|
|
R6489:Ubap2
|
UTSW |
4 |
41,203,574 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6520:Ubap2
|
UTSW |
4 |
41,195,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6652:Ubap2
|
UTSW |
4 |
41,196,743 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6702:Ubap2
|
UTSW |
4 |
41,227,210 (GRCm39) |
small insertion |
probably benign |
|
|
R6736:Ubap2
|
UTSW |
4 |
41,227,224 (GRCm39) |
small insertion |
probably benign |
|
|
R6736:Ubap2
|
UTSW |
4 |
41,227,210 (GRCm39) |
small insertion |
probably benign |
|
|
R6860:Ubap2
|
UTSW |
4 |
41,233,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Ubap2
|
UTSW |
4 |
41,196,033 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7121:Ubap2
|
UTSW |
4 |
41,205,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7371:Ubap2
|
UTSW |
4 |
41,195,779 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7378:Ubap2
|
UTSW |
4 |
41,235,515 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7695:Ubap2
|
UTSW |
4 |
41,211,740 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7811:Ubap2
|
UTSW |
4 |
41,211,710 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7828:Ubap2
|
UTSW |
4 |
41,221,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7838:Ubap2
|
UTSW |
4 |
41,233,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8016:Ubap2
|
UTSW |
4 |
41,195,201 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8790:Ubap2
|
UTSW |
4 |
41,209,351 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8817:Ubap2
|
UTSW |
4 |
41,223,425 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9379:Ubap2
|
UTSW |
4 |
41,216,630 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9470:Ubap2
|
UTSW |
4 |
41,195,434 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9536:Ubap2
|
UTSW |
4 |
41,195,661 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0061:Ubap2
|
UTSW |
4 |
41,196,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTTGTCAGAGGGTAGCAAGG -3'
(R):5'- ACGTCTTTTATAAGCCCGTGAG -3'
Sequencing Primer
(F):5'- GAGCTGCACTAAAGCACTTCTCATG -3'
(R):5'- TGAGGGCTGAAGTCCCTGTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation