Incidental Mutation 'IGL02570:Mab21l2'
| ID |
298976 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mab21l2
|
| Ensembl Gene |
ENSMUSG00000057777 |
| Gene Name |
mab-21-like 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.868)
|
| Stock # |
IGL02570
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
86453357-86455590 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86454531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 156
(S156R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077524]
[ENSMUST00000107635]
[ENSMUST00000192145]
[ENSMUST00000194759]
[ENSMUST00000212390]
[ENSMUST00000195524]
|
| AlphaFold |
Q8BPP1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077524
AA Change: S156R
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000076729
Gene: ENSMUSG00000057777
AA Change: S156R
| Domain | Start | End | E-Value | Type |
|---|
|
Mab-21
|
61 |
347 |
1.61e-96 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107635
|
| SMART Domains |
Protein: ENSMUSP00000103261
Gene: ENSMUSG00000028080
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
31 |
N/A |
INTRINSIC |
|
Pfam:Laminin_G_3
|
211 |
377 |
4.6e-13 |
PFAM |
|
Pfam:DUF4704
|
446 |
717 |
2.5e-109 |
PFAM |
|
coiled coil region
|
1019 |
1037 |
N/A |
INTRINSIC |
|
low complexity region
|
1073 |
1089 |
N/A |
INTRINSIC |
|
low complexity region
|
1100 |
1113 |
N/A |
INTRINSIC |
|
low complexity region
|
1585 |
1600 |
N/A |
INTRINSIC |
|
low complexity region
|
1614 |
1630 |
N/A |
INTRINSIC |
|
low complexity region
|
1698 |
1713 |
N/A |
INTRINSIC |
|
low complexity region
|
1738 |
1757 |
N/A |
INTRINSIC |
|
low complexity region
|
1848 |
1861 |
N/A |
INTRINSIC |
|
Pfam:DUF1088
|
1882 |
2049 |
7e-88 |
PFAM |
|
Pfam:PH_BEACH
|
2075 |
2172 |
9.1e-31 |
PFAM |
|
Beach
|
2203 |
2480 |
2.87e-207 |
SMART |
|
WD40
|
2578 |
2615 |
7.4e0 |
SMART |
|
WD40
|
2618 |
2661 |
1.72e0 |
SMART |
|
WD40
|
2677 |
2716 |
3.99e-1 |
SMART |
|
WD40
|
2760 |
2798 |
1.79e-1 |
SMART |
|
WD40
|
2801 |
2840 |
4.28e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191695
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192145
|
| SMART Domains |
Protein: ENSMUSP00000142179
Gene: ENSMUSG00000028080
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
31 |
N/A |
INTRINSIC |
|
Pfam:Laminin_G_3
|
205 |
377 |
7.4e-18 |
PFAM |
|
coiled coil region
|
1019 |
1037 |
N/A |
INTRINSIC |
|
low complexity region
|
1073 |
1089 |
N/A |
INTRINSIC |
|
low complexity region
|
1100 |
1113 |
N/A |
INTRINSIC |
|
low complexity region
|
1585 |
1600 |
N/A |
INTRINSIC |
|
low complexity region
|
1614 |
1630 |
N/A |
INTRINSIC |
|
low complexity region
|
1698 |
1713 |
N/A |
INTRINSIC |
|
low complexity region
|
1738 |
1757 |
N/A |
INTRINSIC |
|
low complexity region
|
1848 |
1861 |
N/A |
INTRINSIC |
|
Pfam:DUF1088
|
1882 |
2050 |
1.5e-92 |
PFAM |
|
Pfam:PH_BEACH
|
2068 |
2172 |
7.5e-32 |
PFAM |
|
Beach
|
2203 |
2480 |
2.87e-207 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194674
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194759
|
| SMART Domains |
Protein: ENSMUSP00000142043
Gene: ENSMUSG00000028080
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
31 |
N/A |
INTRINSIC |
|
Pfam:Laminin_G_3
|
205 |
377 |
8.1e-18 |
PFAM |
|
coiled coil region
|
1019 |
1037 |
N/A |
INTRINSIC |
|
low complexity region
|
1073 |
1089 |
N/A |
INTRINSIC |
|
low complexity region
|
1100 |
1113 |
N/A |
INTRINSIC |
|
low complexity region
|
1585 |
1600 |
N/A |
INTRINSIC |
|
low complexity region
|
1614 |
1630 |
N/A |
INTRINSIC |
|
low complexity region
|
1698 |
1713 |
N/A |
INTRINSIC |
|
low complexity region
|
1738 |
1757 |
N/A |
INTRINSIC |
|
low complexity region
|
1848 |
1861 |
N/A |
INTRINSIC |
|
Pfam:DUF1088
|
1882 |
2050 |
1.6e-92 |
PFAM |
|
Pfam:PH_BEACH
|
2068 |
2172 |
8.3e-32 |
PFAM |
|
Beach
|
2203 |
2480 |
2.87e-207 |
SMART |
|
WD40
|
2578 |
2615 |
7.4e0 |
SMART |
|
WD40
|
2618 |
2661 |
1.72e0 |
SMART |
|
WD40
|
2677 |
2716 |
3.99e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195398
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212390
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195524
|
| SMART Domains |
Protein: ENSMUSP00000141734
Gene: ENSMUSG00000028080
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PH_BEACH
|
3 |
76 |
3.6e-20 |
PFAM |
|
Beach
|
107 |
384 |
2.87e-207 |
SMART |
|
WD40
|
482 |
519 |
7.4e0 |
SMART |
|
WD40
|
522 |
565 |
1.72e0 |
SMART |
|
WD40
|
581 |
620 |
3.99e-1 |
SMART |
|
WD40
|
664 |
702 |
1.79e-1 |
SMART |
|
WD40
|
705 |
744 |
4.28e0 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in omphalocele and defects in ventral body wall formation resulting in death at mid-gestation. Mutants have impaired development of the retina and lens. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
T |
C |
17: 13,159,181 (GRCm39) |
T3A |
probably benign |
Het |
| Anapc1 |
A |
C |
2: 128,487,120 (GRCm39) |
F1087V |
probably damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,796,885 (GRCm39) |
T484A |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,187,862 (GRCm39) |
|
probably benign |
Het |
| Fscb |
A |
G |
12: 64,518,952 (GRCm39) |
I838T |
unknown |
Het |
| Gdap1 |
A |
G |
1: 17,215,709 (GRCm39) |
Q5R |
probably benign |
Het |
| Gmds |
A |
G |
13: 32,418,390 (GRCm39) |
|
probably benign |
Het |
| Gmfb |
A |
T |
14: 47,054,904 (GRCm39) |
D13E |
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,389,605 (GRCm39) |
V250D |
probably benign |
Het |
| Grin2b |
T |
C |
6: 135,899,996 (GRCm39) |
D295G |
probably damaging |
Het |
| Igkv1-135 |
A |
T |
6: 67,586,732 (GRCm39) |
M2L |
probably benign |
Het |
| Impdh1 |
T |
C |
6: 29,203,197 (GRCm39) |
Y375C |
probably damaging |
Het |
| Lrpprc |
A |
G |
17: 85,057,981 (GRCm39) |
Y750H |
probably damaging |
Het |
| Map4k4 |
T |
C |
1: 40,019,739 (GRCm39) |
I146T |
probably benign |
Het |
| Pcdh18 |
A |
T |
3: 49,711,074 (GRCm39) |
N80K |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,590,480 (GRCm39) |
F1756L |
probably damaging |
Het |
| Plekhg3 |
A |
G |
12: 76,625,019 (GRCm39) |
E1287G |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,724,009 (GRCm39) |
V2647E |
possibly damaging |
Het |
| Rxfp4 |
A |
C |
3: 88,560,149 (GRCm39) |
S101A |
probably damaging |
Het |
| Spag4 |
A |
T |
2: 155,910,364 (GRCm39) |
H330L |
possibly damaging |
Het |
| Spef2 |
G |
A |
15: 9,717,584 (GRCm39) |
R254* |
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Usp16 |
A |
G |
16: 87,277,781 (GRCm39) |
Y677C |
probably damaging |
Het |
| Vmn2r71 |
T |
A |
7: 85,264,748 (GRCm39) |
W27R |
possibly damaging |
Het |
| Vwa5a |
T |
C |
9: 38,646,167 (GRCm39) |
|
probably benign |
Het |
| Zfp935 |
A |
G |
13: 62,604,792 (GRCm39) |
Y29H |
probably damaging |
Het |
|
| Other mutations in Mab21l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02127:Mab21l2
|
APN |
3 |
86,454,124 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02143:Mab21l2
|
APN |
3 |
86,454,562 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0401:Mab21l2
|
UTSW |
3 |
86,454,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1744:Mab21l2
|
UTSW |
3 |
86,454,211 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2088:Mab21l2
|
UTSW |
3 |
86,454,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Mab21l2
|
UTSW |
3 |
86,454,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3825:Mab21l2
|
UTSW |
3 |
86,454,211 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4361:Mab21l2
|
UTSW |
3 |
86,454,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4664:Mab21l2
|
UTSW |
3 |
86,454,811 (GRCm39) |
missense |
probably benign |
|
|
R5245:Mab21l2
|
UTSW |
3 |
86,454,799 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5791:Mab21l2
|
UTSW |
3 |
86,454,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5878:Mab21l2
|
UTSW |
3 |
86,454,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6187:Mab21l2
|
UTSW |
3 |
86,454,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6880:Mab21l2
|
UTSW |
3 |
86,454,463 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7021:Mab21l2
|
UTSW |
3 |
86,454,793 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8085:Mab21l2
|
UTSW |
3 |
86,455,393 (GRCm39) |
unclassified |
probably benign |
|
|
R8095:Mab21l2
|
UTSW |
3 |
86,454,769 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8736:Mab21l2
|
UTSW |
3 |
86,454,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation