Incidental Mutation 'R0130:Ubap2l'
| ID |
50101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubap2l
|
| Ensembl Gene |
ENSMUSG00000042520 |
| Gene Name |
ubiquitin-associated protein 2-like |
| Synonyms |
A430103N23Rik, NICE-4, 3110083O19Rik, 4932431F02Rik |
| MMRRC Submission |
038415-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0130 (G1)
|
| Quality Score |
205 |
|
Status
|
Validated
(trace)
|
| Chromosome |
3 |
| Chromosomal Location |
90000140-90052628 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90021373 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 478
(S478T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029553]
[ENSMUST00000064639]
[ENSMUST00000090908]
[ENSMUST00000195995]
[ENSMUST00000196843]
[ENSMUST00000198322]
[ENSMUST00000199834]
|
| AlphaFold |
Q80X50 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029553
AA Change: S473T
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520
AA Change: S473T
| 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: S478T
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520
AA Change: S478T
| 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 |
unknown
Transcript: ENSMUST00000090908
AA Change: S453T
|
| SMART Domains |
Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520
AA Change: S453T
| 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 |
probably benign
Transcript: ENSMUST00000195995
AA Change: S484T
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520
AA Change: S484T
| 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: ENSMUST00000196843
AA Change: S473T
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520
AA Change: S473T
| 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 |
noncoding transcript
Transcript: ENSMUST00000196952
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197177
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197633
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198322
AA Change: S453T
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520
AA Change: S453T
| 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: ENSMUST00000199301
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199834
AA Change: S484T
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520
AA Change: S484T
| 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 |
noncoding transcript
Transcript: ENSMUST00000200195
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200320
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199612
|
| Meta Mutation Damage Score |
0.0728 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.7%
- 10x: 93.4%
- 20x: 80.2%
|
| Validation Efficiency |
99% (84/85) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
T |
17: 84,686,666 (GRCm38) |
Y37F |
probably damaging |
Het |
| Ablim2 |
G |
A |
5: 35,809,176 (GRCm38) |
|
probably benign |
Het |
| Anxa9 |
A |
G |
3: 95,302,422 (GRCm38) |
S129P |
probably benign |
Het |
| Apol7c |
A |
G |
15: 77,526,362 (GRCm38) |
I128T |
possibly damaging |
Het |
| Arfgef2 |
T |
G |
2: 166,835,719 (GRCm38) |
I88S |
probably damaging |
Het |
| Arfip2 |
A |
G |
7: 105,638,998 (GRCm38) |
|
probably benign |
Het |
| Atp5j2 |
A |
T |
5: 145,188,182 (GRCm38) |
|
probably benign |
Het |
| Atp7b |
C |
T |
8: 22,028,172 (GRCm38) |
E205K |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,369,715 (GRCm38) |
|
probably null |
Het |
| Cd22 |
A |
G |
7: 30,869,964 (GRCm38) |
Y402H |
possibly damaging |
Het |
| Cd248 |
A |
G |
19: 5,069,962 (GRCm38) |
T613A |
probably benign |
Het |
| Cdcp2 |
C |
T |
4: 107,106,707 (GRCm38) |
|
probably benign |
Het |
| Cenpc1 |
A |
T |
5: 86,046,546 (GRCm38) |
D120E |
probably benign |
Het |
| Chd3 |
T |
A |
11: 69,359,830 (GRCm38) |
H691L |
probably damaging |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm38) |
P568L |
unknown |
Het |
| Cped1 |
T |
A |
6: 22,121,039 (GRCm38) |
Y373N |
probably benign |
Het |
| Cr2 |
A |
T |
1: 195,166,231 (GRCm38) |
V328D |
probably damaging |
Het |
| Ctnnd2 |
A |
T |
15: 30,921,913 (GRCm38) |
E895V |
probably damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,149,771 (GRCm38) |
|
probably benign |
Het |
| Dcdc2a |
A |
T |
13: 25,187,672 (GRCm38) |
|
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,618,674 (GRCm38) |
T837K |
probably benign |
Het |
| Eif2ak3 |
C |
A |
6: 70,881,732 (GRCm38) |
|
probably benign |
Het |
| Epb41l5 |
A |
C |
1: 119,549,902 (GRCm38) |
V705G |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,252,118 (GRCm38) |
M4302L |
probably benign |
Het |
| Flnb |
T |
C |
14: 7,901,951 (GRCm38) |
V938A |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,604,092 (GRCm38) |
Y928H |
probably damaging |
Het |
| Fyn |
C |
T |
10: 39,511,982 (GRCm38) |
T78M |
probably benign |
Het |
| Gdap2 |
A |
G |
3: 100,201,995 (GRCm38) |
T443A |
probably damaging |
Het |
| Gde1 |
A |
T |
7: 118,695,060 (GRCm38) |
F63L |
probably benign |
Het |
| Gjc3 |
A |
G |
5: 137,957,940 (GRCm38) |
S28P |
probably benign |
Het |
| Gm10250 |
G |
A |
15: 5,120,991 (GRCm38) |
|
probably null |
Het |
| Gm1141 |
T |
C |
X: 71,939,555 (GRCm38) |
C378R |
possibly damaging |
Het |
| Hp1bp3 |
C |
T |
4: 138,237,209 (GRCm38) |
S348F |
probably damaging |
Het |
| Klhl23 |
T |
C |
2: 69,833,966 (GRCm38) |
V553A |
probably damaging |
Het |
| Lman2l |
G |
T |
1: 36,424,864 (GRCm38) |
S171* |
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,511,508 (GRCm38) |
D378G |
probably damaging |
Het |
| Map3k11 |
T |
C |
19: 5,690,815 (GRCm38) |
L190P |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,696,459 (GRCm38) |
Q2282L |
probably damaging |
Het |
| Mthfd2 |
T |
A |
6: 83,309,008 (GRCm38) |
I272F |
probably damaging |
Het |
| Myom1 |
A |
T |
17: 71,045,755 (GRCm38) |
D358V |
probably damaging |
Het |
| Nebl |
T |
C |
2: 17,390,926 (GRCm38) |
|
probably benign |
Het |
| Nebl |
T |
A |
2: 17,393,023 (GRCm38) |
Q487H |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,322,418 (GRCm38) |
N14Y |
possibly damaging |
Het |
| Olfr1090 |
T |
C |
2: 86,753,887 (GRCm38) |
M284V |
probably benign |
Het |
| Olfr304 |
T |
C |
7: 86,386,306 (GRCm38) |
Y118C |
probably damaging |
Het |
| Olfr339 |
T |
A |
2: 36,422,287 (GRCm38) |
D296E |
probably benign |
Het |
| Olfr372 |
C |
T |
8: 72,058,400 (GRCm38) |
T240M |
probably damaging |
Het |
| Olfr992 |
T |
A |
2: 85,399,961 (GRCm38) |
S191C |
probably damaging |
Het |
| Paxip1 |
C |
T |
5: 27,744,185 (GRCm38) |
|
probably benign |
Het |
| Pclo |
A |
G |
5: 14,679,797 (GRCm38) |
|
probably benign |
Het |
| Pld2 |
T |
G |
11: 70,554,348 (GRCm38) |
N591K |
probably benign |
Het |
| Plekha7 |
A |
G |
7: 116,170,704 (GRCm38) |
M276T |
probably damaging |
Het |
| Prss39 |
T |
A |
1: 34,502,200 (GRCm38) |
|
probably benign |
Het |
| Prtg |
A |
G |
9: 72,809,716 (GRCm38) |
Y113C |
probably damaging |
Het |
| Rab38 |
T |
A |
7: 88,450,541 (GRCm38) |
I88N |
probably damaging |
Het |
| Rbfox2 |
A |
G |
15: 77,091,857 (GRCm38) |
|
probably benign |
Het |
| Samd5 |
A |
G |
10: 9,674,939 (GRCm38) |
W9R |
probably damaging |
Het |
| Sec14l1 |
A |
T |
11: 117,156,407 (GRCm38) |
K637I |
possibly damaging |
Het |
| Sh2b1 |
A |
T |
7: 126,471,448 (GRCm38) |
D360E |
possibly damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,145,314 (GRCm38) |
N628S |
possibly damaging |
Het |
| Sim1 |
A |
T |
10: 50,907,961 (GRCm38) |
I104F |
probably damaging |
Het |
| Smcp |
T |
A |
3: 92,584,520 (GRCm38) |
T7S |
unknown |
Het |
| Sp4 |
A |
G |
12: 118,300,816 (GRCm38) |
|
probably benign |
Het |
| Tectb |
G |
T |
19: 55,181,961 (GRCm38) |
K81N |
probably damaging |
Het |
| Thbs4 |
G |
T |
13: 92,754,410 (GRCm38) |
H850N |
probably benign |
Het |
| Tiam1 |
T |
C |
16: 89,897,754 (GRCm38) |
M272V |
probably benign |
Het |
| Trav13-3 |
T |
A |
14: 53,729,776 (GRCm38) |
|
noncoding transcript |
Het |
| Vmn2r85 |
A |
G |
10: 130,419,185 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Ubap2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01011:Ubap2l
|
APN |
3 |
90,009,256 (GRCm38) |
nonsense |
probably null |
|
|
IGL02606:Ubap2l
|
APN |
3 |
90,038,428 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02809:Ubap2l
|
APN |
3 |
90,021,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Panhandle
|
UTSW |
3 |
90,031,376 (GRCm38) |
splice site |
probably benign |
|
|
plainview
|
UTSW |
3 |
90,038,850 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0052:Ubap2l
|
UTSW |
3 |
90,038,928 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0052:Ubap2l
|
UTSW |
3 |
90,038,928 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0128:Ubap2l
|
UTSW |
3 |
90,021,373 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0502:Ubap2l
|
UTSW |
3 |
90,009,213 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0619:Ubap2l
|
UTSW |
3 |
90,017,220 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0726:Ubap2l
|
UTSW |
3 |
90,021,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1023:Ubap2l
|
UTSW |
3 |
90,047,873 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R1172:Ubap2l
|
UTSW |
3 |
90,023,500 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1174:Ubap2l
|
UTSW |
3 |
90,023,500 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1175:Ubap2l
|
UTSW |
3 |
90,023,500 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1191:Ubap2l
|
UTSW |
3 |
90,023,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1432:Ubap2l
|
UTSW |
3 |
90,019,328 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1582:Ubap2l
|
UTSW |
3 |
90,034,671 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1771:Ubap2l
|
UTSW |
3 |
90,019,231 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2058:Ubap2l
|
UTSW |
3 |
90,031,376 (GRCm38) |
splice site |
probably benign |
|
|
R2059:Ubap2l
|
UTSW |
3 |
90,031,376 (GRCm38) |
splice site |
probably benign |
|
|
R2081:Ubap2l
|
UTSW |
3 |
90,038,964 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2408:Ubap2l
|
UTSW |
3 |
90,009,132 (GRCm38) |
missense |
probably null |
0.99 |
|
R3404:Ubap2l
|
UTSW |
3 |
90,038,850 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3551:Ubap2l
|
UTSW |
3 |
90,015,451 (GRCm38) |
missense |
unknown |
|
|
R4132:Ubap2l
|
UTSW |
3 |
90,009,184 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4782:Ubap2l
|
UTSW |
3 |
90,020,903 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4798:Ubap2l
|
UTSW |
3 |
90,020,903 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5173:Ubap2l
|
UTSW |
3 |
90,021,030 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5274:Ubap2l
|
UTSW |
3 |
90,012,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5387:Ubap2l
|
UTSW |
3 |
90,006,596 (GRCm38) |
missense |
probably benign |
0.10 |
|
R6548:Ubap2l
|
UTSW |
3 |
90,023,560 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6912:Ubap2l
|
UTSW |
3 |
90,038,848 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R6995:Ubap2l
|
UTSW |
3 |
90,009,241 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7039:Ubap2l
|
UTSW |
3 |
90,002,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7323:Ubap2l
|
UTSW |
3 |
90,015,406 (GRCm38) |
missense |
unknown |
|
|
R7512:Ubap2l
|
UTSW |
3 |
90,010,496 (GRCm38) |
missense |
unknown |
|
|
R7815:Ubap2l
|
UTSW |
3 |
90,043,764 (GRCm38) |
nonsense |
probably null |
|
|
R7975:Ubap2l
|
UTSW |
3 |
90,038,769 (GRCm38) |
splice site |
probably null |
|
|
R8200:Ubap2l
|
UTSW |
3 |
90,023,626 (GRCm38) |
missense |
probably benign |
0.34 |
|
R8291:Ubap2l
|
UTSW |
3 |
90,008,231 (GRCm38) |
makesense |
probably null |
|
|
R8424:Ubap2l
|
UTSW |
3 |
90,021,031 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8441:Ubap2l
|
UTSW |
3 |
90,012,700 (GRCm38) |
missense |
unknown |
|
|
R9098:Ubap2l
|
UTSW |
3 |
90,002,449 (GRCm38) |
missense |
unknown |
|
|
R9373:Ubap2l
|
UTSW |
3 |
90,008,280 (GRCm38) |
missense |
unknown |
|
|
R9421:Ubap2l
|
UTSW |
3 |
90,047,801 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9488:Ubap2l
|
UTSW |
3 |
90,021,349 (GRCm38) |
missense |
probably benign |
0.02 |
|
Z1176:Ubap2l
|
UTSW |
3 |
90,019,204 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Ubap2l
|
UTSW |
3 |
90,001,817 (GRCm38) |
critical splice donor site |
probably null |
|
|
Z1186:Ubap2l
|
UTSW |
3 |
90,009,236 (GRCm38) |
missense |
unknown |
|
|
Z1191:Ubap2l
|
UTSW |
3 |
90,009,236 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCACAGCCAGAGCAGGAATCTATG -3'
(R):5'- TGGCAAGAATCTTTATGCACTGAGAGC -3'
Sequencing Primer
(F):5'- ATAAACCCTTAGACTATCTCATCCTG -3'
(R):5'- ATGCACTGAGAGCCATTTTGC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation