Incidental Mutation 'R5791:Mab21l2'
ID |
446962 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mab21l2
|
Ensembl Gene |
ENSMUSG00000057777 |
Gene Name |
mab-21-like 2 |
Synonyms |
|
MMRRC Submission |
043207-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.868)
|
Stock # |
R5791 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
86453357-86455590 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86454044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 319
(Y319H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076729
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077524]
[ENSMUST00000107635]
[ENSMUST00000192145]
[ENSMUST00000194759]
[ENSMUST00000212390]
[ENSMUST00000195524]
|
AlphaFold |
Q8BPP1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077524
AA Change: Y319H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000076729 Gene: ENSMUSG00000057777 AA Change: Y319H
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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
G |
C |
8: 41,207,257 (GRCm39) |
Q174H |
probably benign |
Het |
Adipor2 |
A |
T |
6: 119,338,866 (GRCm39) |
M129K |
possibly damaging |
Het |
Arhgap29 |
T |
A |
3: 121,807,894 (GRCm39) |
M616K |
probably damaging |
Het |
Calcrl |
A |
T |
2: 84,181,609 (GRCm39) |
F180I |
probably damaging |
Het |
Cdh4 |
T |
C |
2: 179,537,560 (GRCm39) |
V864A |
probably damaging |
Het |
Cep78 |
A |
G |
19: 15,938,436 (GRCm39) |
F504S |
probably benign |
Het |
Coasy |
A |
G |
11: 100,975,211 (GRCm39) |
|
probably null |
Het |
Dnah3 |
T |
C |
7: 119,530,696 (GRCm39) |
N751S |
probably benign |
Het |
Ecpas |
C |
T |
4: 58,814,027 (GRCm39) |
E1360K |
possibly damaging |
Het |
Ecpas |
T |
A |
4: 58,822,111 (GRCm39) |
D1152V |
probably damaging |
Het |
Eea1 |
T |
A |
10: 95,855,857 (GRCm39) |
N631K |
probably benign |
Het |
Fam149b |
A |
G |
14: 20,401,394 (GRCm39) |
K27R |
probably damaging |
Het |
Fbxw26 |
A |
G |
9: 109,574,221 (GRCm39) |
W42R |
probably damaging |
Het |
Gas6 |
A |
G |
8: 13,520,217 (GRCm39) |
|
probably null |
Het |
Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gmppa |
T |
C |
1: 75,418,899 (GRCm39) |
V324A |
possibly damaging |
Het |
Gstm2 |
C |
T |
3: 107,891,444 (GRCm39) |
|
probably null |
Het |
Kcng3 |
A |
G |
17: 83,895,639 (GRCm39) |
S276P |
probably benign |
Het |
Lrrd1 |
T |
C |
5: 3,901,254 (GRCm39) |
S520P |
probably benign |
Het |
Lrrn2 |
A |
G |
1: 132,865,505 (GRCm39) |
N190S |
probably benign |
Het |
Lrwd1 |
G |
C |
5: 136,159,887 (GRCm39) |
A392G |
probably benign |
Het |
Ndufv3 |
A |
G |
17: 31,746,382 (GRCm39) |
N91D |
probably benign |
Het |
Nfatc2 |
T |
A |
2: 168,378,313 (GRCm39) |
M451L |
probably benign |
Het |
Or10g9b |
A |
T |
9: 39,918,030 (GRCm39) |
S72T |
probably damaging |
Het |
Pcdhgb2 |
G |
T |
18: 37,825,393 (GRCm39) |
V795F |
possibly damaging |
Het |
Pdcd11 |
T |
A |
19: 47,099,430 (GRCm39) |
M843K |
possibly damaging |
Het |
Pla2g4c |
T |
A |
7: 13,073,617 (GRCm39) |
N221K |
probably benign |
Het |
Ppox |
T |
C |
1: 171,104,885 (GRCm39) |
Y422C |
probably damaging |
Het |
Retreg3 |
A |
G |
11: 100,991,769 (GRCm39) |
S55P |
probably damaging |
Het |
Rnf103 |
C |
A |
6: 71,485,909 (GRCm39) |
T180K |
probably damaging |
Het |
Tbl3 |
A |
T |
17: 24,923,408 (GRCm39) |
L307H |
probably damaging |
Het |
Tex26 |
A |
T |
5: 149,363,240 (GRCm39) |
|
probably null |
Het |
Tln2 |
A |
T |
9: 67,293,887 (GRCm39) |
I247K |
probably damaging |
Het |
Txlnb |
T |
C |
10: 17,674,876 (GRCm39) |
S10P |
probably benign |
Het |
Vwde |
C |
A |
6: 13,195,985 (GRCm39) |
E347* |
probably null |
Het |
Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
Zfp14 |
A |
G |
7: 29,737,687 (GRCm39) |
S433P |
probably damaging |
Het |
Zfp647 |
G |
T |
15: 76,802,206 (GRCm39) |
A2E |
unknown |
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 |
IGL02570:Mab21l2
|
APN |
3 |
86,454,531 (GRCm39) |
missense |
possibly damaging |
0.79 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGAGCATGCCCATTTATGTTGC -3'
(R):5'- TGATGGGCGGCTGTAGAAAC -3'
Sequencing Primer
(F):5'- GTTGCTTTCCACGCAGTCGG -3'
(R):5'- CTGTAGAAACAAGTGCCTCTCGG -3'
|
Posted On |
2016-12-15 |