Incidental Mutation 'IGL00823:Baiap2l2'
| ID |
9196 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Baiap2l2
|
| Ensembl Gene |
ENSMUSG00000018126 |
| Gene Name |
BAI1-associated protein 2-like 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00823
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
79142395-79169737 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 79168765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047816]
[ENSMUST00000165408]
[ENSMUST00000166977]
[ENSMUST00000169462]
[ENSMUST00000170955]
[ENSMUST00000172403]
[ENSMUST00000173163]
[ENSMUST00000174021]
|
| AlphaFold |
Q80Y61 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047816
|
| SMART Domains |
Protein: ENSMUSP00000044234
Gene: ENSMUSG00000042632
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
|
ANK
|
151 |
181 |
2.97e-3 |
SMART |
|
ANK
|
185 |
215 |
4.6e0 |
SMART |
|
ANK
|
219 |
248 |
3.23e-4 |
SMART |
|
ANK
|
286 |
312 |
1.52e0 |
SMART |
|
ANK
|
316 |
345 |
6.46e-4 |
SMART |
|
ANK
|
349 |
378 |
2.02e-5 |
SMART |
|
Pfam:Patatin
|
427 |
611 |
6.7e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165408
|
| SMART Domains |
Protein: ENSMUSP00000127816
Gene: ENSMUSG00000018126
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMD
|
16 |
226 |
1e-90 |
PFAM |
|
low complexity region
|
232 |
244 |
N/A |
INTRINSIC |
|
SH3
|
327 |
386 |
2.54e-9 |
SMART |
|
low complexity region
|
389 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166977
|
| SMART Domains |
Protein: ENSMUSP00000132071
Gene: ENSMUSG00000042632
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
|
ANK
|
151 |
181 |
2.97e-3 |
SMART |
|
ANK
|
185 |
215 |
4.6e0 |
SMART |
|
ANK
|
219 |
248 |
3.23e-4 |
SMART |
|
ANK
|
286 |
312 |
1.52e0 |
SMART |
|
ANK
|
316 |
345 |
6.46e-4 |
SMART |
|
ANK
|
349 |
378 |
2.02e-5 |
SMART |
|
Pfam:Patatin
|
427 |
611 |
6.7e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169462
|
| SMART Domains |
Protein: ENSMUSP00000130698
Gene: ENSMUSG00000018126
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMD
|
16 |
226 |
3.8e-83 |
PFAM |
|
low complexity region
|
232 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
299 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170955
|
| SMART Domains |
Protein: ENSMUSP00000125946
Gene: ENSMUSG00000018126
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMD
|
16 |
211 |
1.4e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172403
|
| SMART Domains |
Protein: ENSMUSP00000131081
Gene: ENSMUSG00000042632
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
|
ANK
|
151 |
181 |
2.97e-3 |
SMART |
|
ANK
|
185 |
215 |
4.6e0 |
SMART |
|
ANK
|
219 |
248 |
3.23e-4 |
SMART |
|
ANK
|
286 |
312 |
1.52e0 |
SMART |
|
ANK
|
316 |
345 |
6.46e-4 |
SMART |
|
ANK
|
349 |
378 |
2.02e-5 |
SMART |
|
Pfam:Patatin
|
427 |
611 |
6.7e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173163
|
| SMART Domains |
Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
|
ANK
|
151 |
181 |
2.97e-3 |
SMART |
|
ANK
|
185 |
215 |
4.6e0 |
SMART |
|
ANK
|
219 |
248 |
3.23e-4 |
SMART |
|
ANK
|
286 |
312 |
1.52e0 |
SMART |
|
ANK
|
316 |
345 |
6.46e-4 |
SMART |
|
ANK
|
349 |
378 |
2.02e-5 |
SMART |
|
Pfam:Patatin
|
427 |
611 |
6.7e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229011
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174021
|
| SMART Domains |
Protein: ENSMUSP00000134672
Gene: ENSMUSG00000042632
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
|
ANK
|
151 |
181 |
2.97e-3 |
SMART |
|
ANK
|
185 |
215 |
4.6e0 |
SMART |
|
ANK
|
219 |
248 |
3.23e-4 |
SMART |
|
ANK
|
286 |
312 |
1.52e0 |
SMART |
|
ANK
|
316 |
345 |
6.46e-4 |
SMART |
|
ANK
|
349 |
378 |
2.02e-5 |
SMART |
|
Blast:ANK
|
382 |
411 |
2e-8 |
BLAST |
|
Pfam:Patatin
|
482 |
666 |
2.9e-18 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
C |
5: 77,026,381 (GRCm39) |
|
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,308,758 (GRCm39) |
E39G |
probably benign |
Het |
| Anapc7 |
G |
A |
5: 122,571,540 (GRCm39) |
W205* |
probably null |
Het |
| Arhgap5 |
C |
T |
12: 52,565,525 (GRCm39) |
T832I |
possibly damaging |
Het |
| Arhgef10 |
T |
A |
8: 14,990,378 (GRCm39) |
|
probably benign |
Het |
| Atg5 |
A |
G |
10: 44,239,040 (GRCm39) |
T274A |
probably benign |
Het |
| Brap |
T |
A |
5: 121,803,290 (GRCm39) |
M146K |
probably damaging |
Het |
| Brpf1 |
T |
C |
6: 113,298,847 (GRCm39) |
S1074P |
probably benign |
Het |
| Camta1 |
A |
C |
4: 151,169,058 (GRCm39) |
I231R |
probably benign |
Het |
| Ccdc15 |
C |
T |
9: 37,231,709 (GRCm39) |
G205D |
probably benign |
Het |
| Cd6 |
G |
T |
19: 10,773,758 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
T |
G |
4: 11,783,412 (GRCm39) |
S219R |
possibly damaging |
Het |
| Cgn |
G |
A |
3: 94,674,519 (GRCm39) |
R873W |
probably damaging |
Het |
| Ctnna3 |
C |
T |
10: 63,373,322 (GRCm39) |
P41L |
possibly damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,659,888 (GRCm39) |
W484R |
probably benign |
Het |
| Dmd |
A |
G |
X: 83,469,419 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
C |
T |
11: 117,937,987 (GRCm39) |
V3347I |
probably benign |
Het |
| Fgd5 |
T |
A |
6: 91,965,440 (GRCm39) |
S400T |
possibly damaging |
Het |
| Kitl |
C |
A |
10: 99,923,206 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
A |
T |
2: 31,808,533 (GRCm39) |
D763V |
probably damaging |
Het |
| Lgmn |
T |
C |
12: 102,364,435 (GRCm39) |
|
probably benign |
Het |
| Lpcat2 |
T |
G |
8: 93,591,598 (GRCm39) |
W81G |
possibly damaging |
Het |
| Myh13 |
A |
G |
11: 67,246,773 (GRCm39) |
I1165V |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,456,343 (GRCm39) |
D599G |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,061,567 (GRCm39) |
N2099S |
probably benign |
Het |
| Nlrc4 |
T |
C |
17: 74,754,985 (GRCm39) |
D77G |
probably benign |
Het |
| Otub1 |
A |
G |
19: 7,181,416 (GRCm39) |
|
probably benign |
Het |
| Pabir2 |
A |
T |
X: 52,334,208 (GRCm39) |
C222S |
probably damaging |
Het |
| Pah |
A |
G |
10: 87,406,193 (GRCm39) |
Y174C |
probably null |
Het |
| Rbbp5 |
G |
A |
1: 132,417,444 (GRCm39) |
V88I |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,155,279 (GRCm39) |
R560H |
probably benign |
Het |
| Snx5 |
T |
C |
2: 144,097,485 (GRCm39) |
I217V |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,036,016 (GRCm39) |
S3769P |
probably damaging |
Het |
| Tent2 |
T |
C |
13: 93,322,905 (GRCm39) |
T15A |
probably benign |
Het |
| Tmem255b |
T |
C |
8: 13,507,054 (GRCm39) |
M261T |
probably benign |
Het |
| Top3b |
T |
C |
16: 16,705,486 (GRCm39) |
I417T |
probably damaging |
Het |
| Tspan2 |
T |
C |
3: 102,665,549 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,540,057 (GRCm39) |
T34310A |
possibly damaging |
Het |
| Ush2a |
G |
A |
1: 188,643,640 (GRCm39) |
C4334Y |
possibly damaging |
Het |
| Wdpcp |
A |
G |
11: 21,609,995 (GRCm39) |
D21G |
probably damaging |
Het |
| Yy2 |
A |
C |
X: 156,351,207 (GRCm39) |
D186E |
probably benign |
Het |
|
| Other mutations in Baiap2l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03139:Baiap2l2
|
APN |
15 |
79,155,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0403:Baiap2l2
|
UTSW |
15 |
79,155,416 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0532:Baiap2l2
|
UTSW |
15 |
79,168,276 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1017:Baiap2l2
|
UTSW |
15 |
79,145,443 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2163:Baiap2l2
|
UTSW |
15 |
79,143,395 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2566:Baiap2l2
|
UTSW |
15 |
79,146,174 (GRCm39) |
splice site |
probably null |
|
|
R4687:Baiap2l2
|
UTSW |
15 |
79,143,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4740:Baiap2l2
|
UTSW |
15 |
79,143,951 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5217:Baiap2l2
|
UTSW |
15 |
79,154,687 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5571:Baiap2l2
|
UTSW |
15 |
79,155,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6159:Baiap2l2
|
UTSW |
15 |
79,143,930 (GRCm39) |
missense |
probably benign |
|
|
R6961:Baiap2l2
|
UTSW |
15 |
79,168,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7709:Baiap2l2
|
UTSW |
15 |
79,143,911 (GRCm39) |
missense |
probably benign |
|
|
R9091:Baiap2l2
|
UTSW |
15 |
79,168,205 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9270:Baiap2l2
|
UTSW |
15 |
79,168,205 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation