Incidental Mutation 'R9098:Ubap2l'
| ID |
691460 |
| 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 |
068913-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9098 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89907447-89959935 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89909756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1025
(S1025P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029553]
[ENSMUST00000064639]
[ENSMUST00000079724]
[ENSMUST00000090908]
[ENSMUST00000195995]
[ENSMUST00000196843]
[ENSMUST00000197725]
[ENSMUST00000197767]
[ENSMUST00000197786]
[ENSMUST00000198322]
[ENSMUST00000198782]
[ENSMUST00000199050]
[ENSMUST00000199163]
[ENSMUST00000199740]
[ENSMUST00000199834]
|
| AlphaFold |
Q80X50 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029553
AA Change: S1020P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520
AA Change: S1020P
| 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 |
unknown
Transcript: ENSMUST00000064639
AA Change: S1025P
|
| SMART Domains |
Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520
AA Change: S1025P
| 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: ENSMUST00000079724
|
| SMART Domains |
Protein: ENSMUSP00000078661
Gene: ENSMUSG00000027944
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090908
|
| SMART Domains |
Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520
| 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
|
| SMART Domains |
Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520
| 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 |
unknown
Transcript: ENSMUST00000196843
AA Change: S1020P
|
| SMART Domains |
Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520
AA Change: S1020P
| 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 |
probably benign
Transcript: ENSMUST00000197177
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197725
|
| SMART Domains |
Protein: ENSMUSP00000142741
Gene: ENSMUSG00000027944
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
119 |
131 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197767
|
| SMART Domains |
Protein: ENSMUSP00000142445
Gene: ENSMUSG00000027944
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
257 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197786
|
| SMART Domains |
Protein: ENSMUSP00000142627
Gene: ENSMUSG00000027944
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
176 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000198322
AA Change: S999P
|
| SMART Domains |
Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520
AA Change: S999P
| 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 |
probably benign
Transcript: ENSMUST00000198782
|
| SMART Domains |
Protein: ENSMUSP00000143155
Gene: ENSMUSG00000027944
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
234 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199050
AA Change: S25P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142719
Gene: ENSMUSG00000042520
AA Change: S25P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199163
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199740
|
| SMART Domains |
Protein: ENSMUSP00000143557
Gene: ENSMUSG00000027944
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qbkb_
|
4 |
18 |
4e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199834
|
| SMART Domains |
Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
97% (72/74) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
T |
1: 11,633,211 (GRCm39) |
D168V |
probably damaging |
Het |
| Abcb4 |
A |
T |
5: 9,008,441 (GRCm39) |
D1203V |
probably damaging |
Het |
| Acat2 |
G |
A |
17: 13,178,979 (GRCm39) |
|
probably benign |
Het |
| Adam3 |
C |
T |
8: 25,179,484 (GRCm39) |
C611Y |
probably damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,415,189 (GRCm39) |
D638G |
probably damaging |
Het |
| Adra1b |
T |
C |
11: 43,667,218 (GRCm39) |
N340D |
probably damaging |
Het |
| Ankrd31 |
A |
G |
13: 96,916,879 (GRCm39) |
H131R |
probably damaging |
Het |
| Aoc2 |
T |
C |
11: 101,217,164 (GRCm39) |
S416P |
possibly damaging |
Het |
| Armc8 |
G |
A |
9: 99,387,362 (GRCm39) |
R419* |
probably null |
Het |
| Atp6v1h |
T |
G |
1: 5,163,638 (GRCm39) |
V90G |
probably damaging |
Het |
| Avl9 |
T |
C |
6: 56,707,628 (GRCm39) |
V191A |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,990,173 (GRCm39) |
P1860S |
possibly damaging |
Het |
| Btd |
A |
G |
14: 31,384,233 (GRCm39) |
K73R |
probably benign |
Het |
| Cd22 |
T |
C |
7: 30,567,391 (GRCm39) |
K731R |
probably benign |
Het |
| Chmp7 |
C |
A |
14: 69,956,911 (GRCm39) |
L332F |
probably damaging |
Het |
| Cirop |
T |
G |
14: 54,932,686 (GRCm39) |
S393R |
probably damaging |
Het |
| Cldn11 |
A |
G |
3: 31,217,276 (GRCm39) |
E148G |
probably damaging |
Het |
| Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
| Cnbd1 |
A |
T |
4: 18,886,061 (GRCm39) |
Y319* |
probably null |
Het |
| Cnnm4 |
A |
G |
1: 36,511,170 (GRCm39) |
T133A |
probably benign |
Het |
| Cpeb4 |
A |
T |
11: 31,822,679 (GRCm39) |
E131V |
probably benign |
Het |
| Ctns |
A |
G |
11: 73,078,561 (GRCm39) |
|
probably null |
Het |
| Dhx36 |
C |
A |
3: 62,414,142 (GRCm39) |
Q73H |
probably benign |
Het |
| Dhx36 |
C |
A |
3: 62,414,141 (GRCm39) |
E74* |
probably null |
Het |
| Dnah5 |
A |
G |
15: 28,420,107 (GRCm39) |
T3802A |
|
Het |
| Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
| Flnc |
C |
T |
6: 29,455,518 (GRCm39) |
Q2056* |
probably null |
Het |
| Fmo9 |
T |
C |
1: 166,492,199 (GRCm39) |
D408G |
possibly damaging |
Het |
| Gipr |
C |
T |
7: 18,897,495 (GRCm39) |
S117N |
unknown |
Het |
| Gm14412 |
T |
A |
2: 177,006,356 (GRCm39) |
H513L |
probably damaging |
Het |
| Gm21663 |
G |
C |
5: 26,147,167 (GRCm39) |
C46W |
probably benign |
Het |
| Gucy1a2 |
A |
T |
9: 3,634,489 (GRCm39) |
I178L |
probably benign |
Het |
| Htr1b |
A |
T |
9: 81,514,481 (GRCm39) |
L42Q |
|
Het |
| Htr2b |
T |
C |
1: 86,027,481 (GRCm39) |
T342A |
probably damaging |
Het |
| Jkampl |
T |
C |
6: 73,446,517 (GRCm39) |
T11A |
probably benign |
Het |
| Jph2 |
C |
T |
2: 163,181,473 (GRCm39) |
V564M |
probably damaging |
Het |
| Kcnmb1 |
A |
G |
11: 33,914,806 (GRCm39) |
T36A |
probably damaging |
Het |
| Krit1 |
A |
C |
5: 3,863,135 (GRCm39) |
K310N |
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,111,508 (GRCm39) |
T2253M |
|
Het |
| Lpar6 |
C |
T |
14: 73,476,233 (GRCm39) |
L65F |
probably damaging |
Het |
| Megf6 |
G |
A |
4: 154,354,160 (GRCm39) |
G1355R |
probably damaging |
Het |
| Mmp3 |
T |
A |
9: 7,446,936 (GRCm39) |
Y39N |
probably damaging |
Het |
| Mrtfb |
A |
G |
16: 13,221,053 (GRCm39) |
H743R |
probably benign |
Het |
| Ms4a18 |
C |
A |
19: 10,990,741 (GRCm39) |
V118F |
|
Het |
| Mthfr |
G |
A |
4: 148,126,082 (GRCm39) |
S51N |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,554,975 (GRCm39) |
T3773S |
unknown |
Het |
| Mus81 |
T |
A |
19: 5,534,032 (GRCm39) |
K400* |
probably null |
Het |
| Naaladl2 |
A |
T |
3: 24,487,344 (GRCm39) |
D192E |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,366,127 (GRCm39) |
D329G |
possibly damaging |
Het |
| Nek11 |
T |
A |
9: 105,170,856 (GRCm39) |
H393L |
probably benign |
Het |
| Nmt2 |
T |
A |
2: 3,306,315 (GRCm39) |
|
probably benign |
Het |
| Nmur2 |
T |
C |
11: 55,920,408 (GRCm39) |
D279G |
possibly damaging |
Het |
| Nol4l |
C |
A |
2: 153,312,630 (GRCm39) |
R226L |
probably damaging |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or10d4c |
A |
G |
9: 39,558,379 (GRCm39) |
D119G |
probably damaging |
Het |
| Or1o2 |
T |
C |
17: 37,542,961 (GRCm39) |
Y100C |
probably benign |
Het |
| Or5ak22 |
T |
C |
2: 85,229,995 (GRCm39) |
N294S |
probably damaging |
Het |
| Palm |
A |
G |
10: 79,654,988 (GRCm39) |
T249A |
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,381,097 (GRCm39) |
Y309N |
probably benign |
Het |
| Rhobtb3 |
A |
G |
13: 76,087,702 (GRCm39) |
I95T |
probably damaging |
Het |
| Rnpep |
A |
T |
1: 135,206,559 (GRCm39) |
F178L |
possibly damaging |
Het |
| Rsl1d1 |
A |
G |
16: 11,019,227 (GRCm39) |
S105P |
probably damaging |
Het |
| Rxra |
C |
T |
2: 27,638,756 (GRCm39) |
T253I |
possibly damaging |
Het |
| Schip1 |
A |
G |
3: 67,972,318 (GRCm39) |
D15G |
|
Het |
| Sis |
T |
A |
3: 72,844,578 (GRCm39) |
I719F |
possibly damaging |
Het |
| Snx18 |
A |
G |
13: 113,754,310 (GRCm39) |
S208P |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,151,816 (GRCm39) |
V2125A |
probably damaging |
Het |
| Stx7 |
C |
T |
10: 24,058,724 (GRCm39) |
Q199* |
probably null |
Het |
| Syt6 |
T |
C |
3: 103,492,895 (GRCm39) |
I134T |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,510,870 (GRCm39) |
M460T |
probably benign |
Het |
| Tnni3k |
T |
C |
3: 154,647,314 (GRCm39) |
T398A |
possibly damaging |
Het |
| Tspan4 |
T |
C |
7: 141,071,816 (GRCm39) |
S188P |
probably benign |
Het |
| Ubl7 |
A |
G |
9: 57,829,035 (GRCm39) |
D219G |
probably benign |
Het |
| Vmn2r115 |
C |
A |
17: 23,564,803 (GRCm39) |
T230K |
probably benign |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,167 (GRCm39) |
M193K |
possibly damaging |
Het |
| Zfp639 |
A |
G |
3: 32,573,885 (GRCm39) |
E170G |
probably damaging |
Het |
| Zfy1 |
A |
G |
Y: 725,987 (GRCm39) |
S593P |
possibly damaging |
Het |
| Zscan4-ps1 |
T |
A |
7: 10,799,495 (GRCm39) |
T465S |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTACCTGGCCATCCTGCTG -3'
(R):5'- GGCGTGCTCTAACAGTCATC -3'
Sequencing Primer
(F):5'- CTGCAGGTGATGGTGAAGGATC -3'
(R):5'- TAATTTGCCTAGGATCACGGAGC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation