Incidental Mutation 'R0052:Ubap2l'
ID |
15378 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ubap2l
|
Ensembl Gene |
ENSMUSG00000042520 |
Gene Name |
ubiquitin-associated protein 2-like |
Synonyms |
4932431F02Rik, A430103N23Rik, NICE-4, 3110083O19Rik |
MMRRC Submission |
038346-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0052 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
89907447-89959935 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89946235 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 123
(N123S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142524
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029553]
[ENSMUST00000064639]
[ENSMUST00000090908]
[ENSMUST00000195995]
[ENSMUST00000196633]
[ENSMUST00000196843]
[ENSMUST00000199834]
[ENSMUST00000198322]
[ENSMUST00000197903]
[ENSMUST00000199929]
|
AlphaFold |
Q80X50 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029553
AA Change: N123S
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000029553 Gene: ENSMUSG00000042520 AA Change: N123S
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
UBA
|
50 |
88 |
1.31e-9 |
SMART |
low complexity region
|
124 |
152 |
N/A |
INTRINSIC |
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
low complexity region
|
213 |
226 |
N/A |
INTRINSIC |
low complexity region
|
389 |
398 |
N/A |
INTRINSIC |
low complexity region
|
400 |
409 |
N/A |
INTRINSIC |
low complexity region
|
459 |
484 |
N/A |
INTRINSIC |
Pfam:DUF3697
|
514 |
546 |
4e-22 |
PFAM |
low complexity region
|
554 |
589 |
N/A |
INTRINSIC |
low complexity region
|
665 |
675 |
N/A |
INTRINSIC |
low complexity region
|
714 |
745 |
N/A |
INTRINSIC |
low complexity region
|
748 |
804 |
N/A |
INTRINSIC |
low complexity region
|
808 |
822 |
N/A |
INTRINSIC |
low complexity region
|
893 |
916 |
N/A |
INTRINSIC |
low complexity region
|
1038 |
1051 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064639
AA Change: N123S
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000066138 Gene: ENSMUSG00000042520 AA Change: N123S
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
UBA
|
50 |
88 |
1.31e-9 |
SMART |
low complexity region
|
124 |
152 |
N/A |
INTRINSIC |
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
low complexity region
|
213 |
226 |
N/A |
INTRINSIC |
low complexity region
|
394 |
403 |
N/A |
INTRINSIC |
low complexity region
|
405 |
414 |
N/A |
INTRINSIC |
low complexity region
|
464 |
489 |
N/A |
INTRINSIC |
Pfam:DUF3697
|
520 |
551 |
4.1e-18 |
PFAM |
low complexity region
|
559 |
594 |
N/A |
INTRINSIC |
low complexity region
|
670 |
680 |
N/A |
INTRINSIC |
low complexity region
|
719 |
750 |
N/A |
INTRINSIC |
low complexity region
|
753 |
809 |
N/A |
INTRINSIC |
low complexity region
|
813 |
827 |
N/A |
INTRINSIC |
low complexity region
|
898 |
921 |
N/A |
INTRINSIC |
low complexity region
|
1043 |
1056 |
N/A |
INTRINSIC |
low complexity region
|
1077 |
1092 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090908
AA Change: N123S
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000088424 Gene: ENSMUSG00000042520 AA Change: N123S
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
UBA
|
50 |
88 |
1.31e-9 |
SMART |
low complexity region
|
124 |
148 |
N/A |
INTRINSIC |
low complexity region
|
173 |
201 |
N/A |
INTRINSIC |
low complexity region
|
224 |
237 |
N/A |
INTRINSIC |
low complexity region
|
400 |
409 |
N/A |
INTRINSIC |
low complexity region
|
411 |
420 |
N/A |
INTRINSIC |
low complexity region
|
470 |
495 |
N/A |
INTRINSIC |
Pfam:DUF3697
|
525 |
557 |
3.6e-22 |
PFAM |
low complexity region
|
565 |
600 |
N/A |
INTRINSIC |
low complexity region
|
676 |
686 |
N/A |
INTRINSIC |
low complexity region
|
725 |
756 |
N/A |
INTRINSIC |
low complexity region
|
759 |
815 |
N/A |
INTRINSIC |
low complexity region
|
819 |
833 |
N/A |
INTRINSIC |
low complexity region
|
904 |
927 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195995
AA Change: N123S
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000143638 Gene: ENSMUSG00000042520 AA Change: N123S
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
UBA
|
50 |
88 |
1.31e-9 |
SMART |
low complexity region
|
124 |
148 |
N/A |
INTRINSIC |
low complexity region
|
173 |
201 |
N/A |
INTRINSIC |
low complexity region
|
224 |
237 |
N/A |
INTRINSIC |
low complexity region
|
400 |
409 |
N/A |
INTRINSIC |
low complexity region
|
411 |
420 |
N/A |
INTRINSIC |
low complexity region
|
470 |
495 |
N/A |
INTRINSIC |
Pfam:DUF3697
|
526 |
557 |
3.7e-18 |
PFAM |
low complexity region
|
565 |
600 |
N/A |
INTRINSIC |
low complexity region
|
676 |
686 |
N/A |
INTRINSIC |
low complexity region
|
725 |
756 |
N/A |
INTRINSIC |
low complexity region
|
759 |
815 |
N/A |
INTRINSIC |
low complexity region
|
819 |
833 |
N/A |
INTRINSIC |
low complexity region
|
904 |
927 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196568
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196633
|
SMART Domains |
Protein: ENSMUSP00000143423 Gene: ENSMUSG00000042520
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
UBA
|
50 |
88 |
6.3e-12 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196843
AA Change: N123S
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000143459 Gene: ENSMUSG00000042520 AA Change: N123S
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
UBA
|
50 |
88 |
1.31e-9 |
SMART |
low complexity region
|
124 |
152 |
N/A |
INTRINSIC |
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
low complexity region
|
213 |
226 |
N/A |
INTRINSIC |
low complexity region
|
389 |
398 |
N/A |
INTRINSIC |
low complexity region
|
400 |
409 |
N/A |
INTRINSIC |
low complexity region
|
459 |
484 |
N/A |
INTRINSIC |
Pfam:DUF3697
|
514 |
546 |
4e-22 |
PFAM |
low complexity region
|
554 |
589 |
N/A |
INTRINSIC |
low complexity region
|
665 |
675 |
N/A |
INTRINSIC |
low complexity region
|
714 |
745 |
N/A |
INTRINSIC |
low complexity region
|
748 |
804 |
N/A |
INTRINSIC |
low complexity region
|
808 |
822 |
N/A |
INTRINSIC |
low complexity region
|
893 |
916 |
N/A |
INTRINSIC |
low complexity region
|
1038 |
1051 |
N/A |
INTRINSIC |
low complexity region
|
1072 |
1087 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199834
AA Change: N123S
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000143254 Gene: ENSMUSG00000042520 AA Change: N123S
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
UBA
|
50 |
88 |
1.31e-9 |
SMART |
low complexity region
|
124 |
148 |
N/A |
INTRINSIC |
low complexity region
|
173 |
201 |
N/A |
INTRINSIC |
low complexity region
|
224 |
237 |
N/A |
INTRINSIC |
low complexity region
|
400 |
409 |
N/A |
INTRINSIC |
low complexity region
|
411 |
420 |
N/A |
INTRINSIC |
low complexity region
|
470 |
495 |
N/A |
INTRINSIC |
Pfam:DUF3697
|
525 |
557 |
3.6e-22 |
PFAM |
low complexity region
|
565 |
600 |
N/A |
INTRINSIC |
low complexity region
|
676 |
686 |
N/A |
INTRINSIC |
low complexity region
|
725 |
756 |
N/A |
INTRINSIC |
low complexity region
|
759 |
815 |
N/A |
INTRINSIC |
low complexity region
|
819 |
833 |
N/A |
INTRINSIC |
low complexity region
|
904 |
927 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198322
AA Change: N123S
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000142524 Gene: ENSMUSG00000042520 AA Change: N123S
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
UBA
|
50 |
88 |
1.31e-9 |
SMART |
low complexity region
|
124 |
152 |
N/A |
INTRINSIC |
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
low complexity region
|
213 |
226 |
N/A |
INTRINSIC |
low complexity region
|
369 |
378 |
N/A |
INTRINSIC |
low complexity region
|
380 |
389 |
N/A |
INTRINSIC |
low complexity region
|
439 |
464 |
N/A |
INTRINSIC |
Pfam:DUF3697
|
494 |
526 |
4.1e-22 |
PFAM |
low complexity region
|
534 |
569 |
N/A |
INTRINSIC |
low complexity region
|
645 |
655 |
N/A |
INTRINSIC |
low complexity region
|
694 |
725 |
N/A |
INTRINSIC |
low complexity region
|
728 |
784 |
N/A |
INTRINSIC |
low complexity region
|
788 |
802 |
N/A |
INTRINSIC |
low complexity region
|
873 |
896 |
N/A |
INTRINSIC |
low complexity region
|
1017 |
1030 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198282
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199016
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197903
|
SMART Domains |
Protein: ENSMUSP00000143519 Gene: ENSMUSG00000042520
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
PDB:1WJ7|A
|
31 |
81 |
7e-32 |
PDB |
Blast:UBA
|
50 |
81 |
7e-16 |
BLAST |
SCOP:d1efub3
|
51 |
81 |
3e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199929
|
SMART Domains |
Protein: ENSMUSP00000142488 Gene: ENSMUSG00000042520
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
PDB:1WJ7|A
|
31 |
57 |
2e-12 |
PDB |
|
Meta Mutation Damage Score |
0.0745 |
Coding Region Coverage |
- 1x: 85.5%
- 3x: 78.2%
- 10x: 46.7%
- 20x: 12.5%
|
Validation Efficiency |
90% (62/69) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit decreased female body size and reduced female fertility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apba1 |
T |
C |
19: 23,893,315 (GRCm39) |
S438P |
possibly damaging |
Het |
Atosa |
A |
G |
9: 74,926,265 (GRCm39) |
|
probably benign |
Het |
Atp2a1 |
A |
G |
7: 126,057,069 (GRCm39) |
|
probably benign |
Het |
Bicd2 |
T |
A |
13: 49,528,790 (GRCm39) |
L184Q |
probably damaging |
Het |
Bub1 |
G |
A |
2: 127,650,959 (GRCm39) |
T618I |
probably benign |
Het |
Dsp |
A |
G |
13: 38,381,340 (GRCm39) |
D2096G |
possibly damaging |
Het |
Eno4 |
A |
G |
19: 58,956,985 (GRCm39) |
D357G |
probably damaging |
Het |
Fcrl2 |
A |
T |
3: 87,164,085 (GRCm39) |
I348N |
possibly damaging |
Het |
Fgl2 |
A |
T |
5: 21,580,347 (GRCm39) |
S230C |
probably damaging |
Het |
Ginm1 |
T |
A |
10: 7,655,070 (GRCm39) |
E57D |
possibly damaging |
Het |
Itga9 |
T |
A |
9: 118,465,617 (GRCm39) |
I157N |
probably damaging |
Het |
Kif21a |
T |
C |
15: 90,855,060 (GRCm39) |
E700G |
probably damaging |
Het |
Mmd |
C |
T |
11: 90,150,824 (GRCm39) |
|
probably benign |
Het |
Morn3 |
T |
C |
5: 123,184,726 (GRCm39) |
Y38C |
probably damaging |
Het |
Prex2 |
T |
A |
1: 11,230,380 (GRCm39) |
L802Q |
probably damaging |
Het |
Psd3 |
A |
G |
8: 68,335,631 (GRCm39) |
|
probably null |
Het |
Ralgds |
T |
A |
2: 28,434,400 (GRCm39) |
|
probably null |
Het |
Rmdn2 |
A |
G |
17: 79,957,760 (GRCm39) |
E16G |
probably damaging |
Het |
Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
Slc4a4 |
A |
C |
5: 89,304,195 (GRCm39) |
H502P |
possibly damaging |
Het |
Slco3a1 |
A |
T |
7: 74,154,074 (GRCm39) |
I166N |
probably benign |
Het |
Snx5 |
A |
T |
2: 144,101,112 (GRCm39) |
|
probably null |
Het |
Srgap1 |
T |
C |
10: 121,636,732 (GRCm39) |
D741G |
possibly damaging |
Het |
St8sia2 |
G |
T |
7: 73,593,038 (GRCm39) |
Y339* |
probably null |
Het |
Tdo2 |
T |
A |
3: 81,874,332 (GRCm39) |
N210I |
probably benign |
Het |
Thada |
A |
T |
17: 84,762,586 (GRCm39) |
N104K |
probably damaging |
Het |
Timm8b |
A |
T |
9: 50,516,330 (GRCm39) |
D61V |
possibly damaging |
Het |
Trbv12-1 |
T |
C |
6: 41,090,850 (GRCm39) |
F74S |
possibly damaging |
Het |
Tshz1 |
G |
A |
18: 84,033,070 (GRCm39) |
T446I |
possibly damaging |
Het |
Usp12 |
A |
G |
5: 146,675,914 (GRCm39) |
V336A |
possibly damaging |
Het |
Xrn2 |
T |
A |
2: 146,882,885 (GRCm39) |
|
probably benign |
Het |
Zfp14 |
G |
T |
7: 29,737,753 (GRCm39) |
Q411K |
probably damaging |
Het |
|
Other mutations in Ubap2l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01011:Ubap2l
|
APN |
3 |
89,916,563 (GRCm39) |
nonsense |
probably null |
|
IGL02606:Ubap2l
|
APN |
3 |
89,945,735 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02809:Ubap2l
|
APN |
3 |
89,928,553 (GRCm39) |
missense |
probably damaging |
1.00 |
Panhandle
|
UTSW |
3 |
89,938,683 (GRCm39) |
splice site |
probably benign |
|
plainview
|
UTSW |
3 |
89,946,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R0052:Ubap2l
|
UTSW |
3 |
89,946,235 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0128:Ubap2l
|
UTSW |
3 |
89,928,680 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0130:Ubap2l
|
UTSW |
3 |
89,928,680 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0502:Ubap2l
|
UTSW |
3 |
89,916,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R0619:Ubap2l
|
UTSW |
3 |
89,924,527 (GRCm39) |
missense |
probably benign |
0.01 |
R0726:Ubap2l
|
UTSW |
3 |
89,928,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R1023:Ubap2l
|
UTSW |
3 |
89,955,180 (GRCm39) |
utr 5 prime |
probably benign |
|
R1172:Ubap2l
|
UTSW |
3 |
89,930,807 (GRCm39) |
missense |
probably benign |
0.24 |
R1174:Ubap2l
|
UTSW |
3 |
89,930,807 (GRCm39) |
missense |
probably benign |
0.24 |
R1175:Ubap2l
|
UTSW |
3 |
89,930,807 (GRCm39) |
missense |
probably benign |
0.24 |
R1191:Ubap2l
|
UTSW |
3 |
89,930,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R1432:Ubap2l
|
UTSW |
3 |
89,926,635 (GRCm39) |
missense |
probably benign |
0.11 |
R1582:Ubap2l
|
UTSW |
3 |
89,941,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R1771:Ubap2l
|
UTSW |
3 |
89,926,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R2058:Ubap2l
|
UTSW |
3 |
89,938,683 (GRCm39) |
splice site |
probably benign |
|
R2059:Ubap2l
|
UTSW |
3 |
89,938,683 (GRCm39) |
splice site |
probably benign |
|
R2081:Ubap2l
|
UTSW |
3 |
89,946,271 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2408:Ubap2l
|
UTSW |
3 |
89,916,439 (GRCm39) |
missense |
probably null |
0.99 |
R3404:Ubap2l
|
UTSW |
3 |
89,946,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R3551:Ubap2l
|
UTSW |
3 |
89,922,758 (GRCm39) |
missense |
unknown |
|
R4132:Ubap2l
|
UTSW |
3 |
89,916,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R4782:Ubap2l
|
UTSW |
3 |
89,928,210 (GRCm39) |
missense |
probably damaging |
0.98 |
R4798:Ubap2l
|
UTSW |
3 |
89,928,210 (GRCm39) |
missense |
probably damaging |
0.98 |
R5173:Ubap2l
|
UTSW |
3 |
89,928,337 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5274:Ubap2l
|
UTSW |
3 |
89,920,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R5387:Ubap2l
|
UTSW |
3 |
89,913,903 (GRCm39) |
missense |
probably benign |
0.10 |
R6548:Ubap2l
|
UTSW |
3 |
89,930,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R6912:Ubap2l
|
UTSW |
3 |
89,946,155 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6995:Ubap2l
|
UTSW |
3 |
89,916,548 (GRCm39) |
missense |
probably damaging |
0.98 |
R7039:Ubap2l
|
UTSW |
3 |
89,909,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R7323:Ubap2l
|
UTSW |
3 |
89,922,713 (GRCm39) |
missense |
unknown |
|
R7512:Ubap2l
|
UTSW |
3 |
89,917,803 (GRCm39) |
missense |
unknown |
|
R7815:Ubap2l
|
UTSW |
3 |
89,951,071 (GRCm39) |
nonsense |
probably null |
|
R7975:Ubap2l
|
UTSW |
3 |
89,946,076 (GRCm39) |
splice site |
probably null |
|
R8200:Ubap2l
|
UTSW |
3 |
89,930,933 (GRCm39) |
missense |
probably benign |
0.34 |
R8291:Ubap2l
|
UTSW |
3 |
89,915,538 (GRCm39) |
makesense |
probably null |
|
R8424:Ubap2l
|
UTSW |
3 |
89,928,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R8441:Ubap2l
|
UTSW |
3 |
89,920,007 (GRCm39) |
missense |
unknown |
|
R9098:Ubap2l
|
UTSW |
3 |
89,909,756 (GRCm39) |
missense |
unknown |
|
R9373:Ubap2l
|
UTSW |
3 |
89,915,587 (GRCm39) |
missense |
unknown |
|
R9421:Ubap2l
|
UTSW |
3 |
89,955,108 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9488:Ubap2l
|
UTSW |
3 |
89,928,656 (GRCm39) |
missense |
probably benign |
0.02 |
Z1176:Ubap2l
|
UTSW |
3 |
89,926,511 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Ubap2l
|
UTSW |
3 |
89,909,124 (GRCm39) |
critical splice donor site |
probably null |
|
Z1186:Ubap2l
|
UTSW |
3 |
89,916,543 (GRCm39) |
missense |
unknown |
|
Z1191:Ubap2l
|
UTSW |
3 |
89,916,543 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2012-12-17 |