Incidental Mutation 'IGL01479:Mab21l1'
| ID |
88549 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mab21l1
|
| Ensembl Gene |
ENSMUSG00000056947 |
| Gene Name |
mab-21-like 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01479
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
55689931-55692422 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55691253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 280
(Y280C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029374]
[ENSMUST00000075422]
|
| AlphaFold |
O70299 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029374
|
| SMART Domains |
Protein: ENSMUSP00000029374
Gene: ENSMUSG00000027799
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
40 |
N/A |
INTRINSIC |
|
Pfam:Laminin_G_3
|
228 |
393 |
2.8e-13 |
PFAM |
|
Pfam:DUF4704
|
462 |
733 |
4e-113 |
PFAM |
|
low complexity region
|
792 |
802 |
N/A |
INTRINSIC |
|
low complexity region
|
964 |
969 |
N/A |
INTRINSIC |
|
low complexity region
|
1781 |
1790 |
N/A |
INTRINSIC |
|
low complexity region
|
1791 |
1807 |
N/A |
INTRINSIC |
|
low complexity region
|
1835 |
1845 |
N/A |
INTRINSIC |
|
Pfam:DUF1088
|
1956 |
2122 |
3.5e-91 |
PFAM |
|
Pfam:PH_BEACH
|
2148 |
2245 |
2.6e-32 |
PFAM |
|
Beach
|
2276 |
2553 |
1.3e-205 |
SMART |
|
WD40
|
2659 |
2696 |
2.12e2 |
SMART |
|
WD40
|
2699 |
2742 |
2.22e0 |
SMART |
|
WD40
|
2759 |
2798 |
9.21e0 |
SMART |
|
WD40
|
2842 |
2880 |
2.88e-1 |
SMART |
|
WD40
|
2883 |
2922 |
8.91e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075422
AA Change: Y280C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074878
Gene: ENSMUSG00000056947
AA Change: Y280C
| Domain | Start | End | E-Value | Type |
|---|
|
Mab-21
|
61 |
347 |
3.59e-94 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199126
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199535
|
| 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 MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutation of this gene results in male infertility and eye developmental anomalies. Mutant eyes are small, absent of lens and iris, and display malformations of the retina. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
C |
13: 4,322,934 (GRCm39) |
K225R |
probably benign |
Het |
| Amn |
C |
A |
12: 111,238,227 (GRCm39) |
A47E |
probably damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,612,028 (GRCm39) |
I137T |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,604,635 (GRCm39) |
K165E |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,292,859 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,846,543 (GRCm39) |
V2923A |
probably benign |
Het |
| Dnaja2 |
T |
C |
8: 86,280,580 (GRCm39) |
Y35C |
probably damaging |
Het |
| Dnajc2 |
T |
C |
5: 21,962,891 (GRCm39) |
T481A |
probably damaging |
Het |
| Foxred2 |
A |
G |
15: 77,836,489 (GRCm39) |
|
probably null |
Het |
| Gin1 |
C |
T |
1: 97,720,097 (GRCm39) |
T364I |
possibly damaging |
Het |
| Glt8d2 |
C |
T |
10: 82,496,570 (GRCm39) |
V163I |
probably damaging |
Het |
| Gm10118 |
T |
C |
10: 63,762,599 (GRCm39) |
|
probably benign |
Het |
| Hps5 |
C |
T |
7: 46,412,366 (GRCm39) |
|
probably null |
Het |
| Kdm4c |
A |
G |
4: 74,261,738 (GRCm39) |
K638E |
probably benign |
Het |
| L3mbtl2 |
A |
G |
15: 81,560,593 (GRCm39) |
T285A |
probably benign |
Het |
| Mcoln2 |
T |
A |
3: 145,881,407 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
G |
T |
8: 71,811,986 (GRCm39) |
R1926L |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,853,641 (GRCm39) |
V1251A |
probably benign |
Het |
| Rtn4rl1 |
A |
G |
11: 75,156,168 (GRCm39) |
D200G |
probably damaging |
Het |
| Sbsn |
G |
A |
7: 30,451,782 (GRCm39) |
A266T |
possibly damaging |
Het |
| Sgca |
A |
T |
11: 94,854,204 (GRCm39) |
C335* |
probably null |
Het |
| Spag1 |
T |
C |
15: 36,233,345 (GRCm39) |
|
probably benign |
Het |
| Sult6b1 |
A |
T |
17: 79,213,005 (GRCm39) |
V82D |
probably benign |
Het |
| Tigit |
T |
C |
16: 43,479,885 (GRCm39) |
T137A |
probably benign |
Het |
| Tmem125 |
G |
A |
4: 118,398,820 (GRCm39) |
Q204* |
probably null |
Het |
| Tmem59l |
C |
T |
8: 70,938,748 (GRCm39) |
R111Q |
probably benign |
Het |
| Vmn2r95 |
G |
A |
17: 18,664,124 (GRCm39) |
G448R |
probably damaging |
Het |
| Zfp64 |
T |
C |
2: 168,793,599 (GRCm39) |
H49R |
probably damaging |
Het |
|
| Other mutations in Mab21l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:Mab21l1
|
APN |
3 |
55,690,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02127:Mab21l1
|
APN |
3 |
55,691,016 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02707:Mab21l1
|
APN |
3 |
55,690,505 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
vermin
|
UTSW |
3 |
55,691,307 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1529:Mab21l1
|
UTSW |
3 |
55,691,254 (GRCm39) |
nonsense |
probably null |
|
|
R1911:Mab21l1
|
UTSW |
3 |
55,691,048 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5578:Mab21l1
|
UTSW |
3 |
55,691,435 (GRCm39) |
nonsense |
probably null |
|
|
R5973:Mab21l1
|
UTSW |
3 |
55,690,533 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6008:Mab21l1
|
UTSW |
3 |
55,690,518 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6373:Mab21l1
|
UTSW |
3 |
55,690,505 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7471:Mab21l1
|
UTSW |
3 |
55,691,307 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7779:Mab21l1
|
UTSW |
3 |
55,690,796 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7878:Mab21l1
|
UTSW |
3 |
55,691,438 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8122:Mab21l1
|
UTSW |
3 |
55,690,905 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8405:Mab21l1
|
UTSW |
3 |
55,690,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8430:Mab21l1
|
UTSW |
3 |
55,690,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8503:Mab21l1
|
UTSW |
3 |
55,690,604 (GRCm39) |
nonsense |
probably null |
|
|
R8963:Mab21l1
|
UTSW |
3 |
55,690,348 (GRCm39) |
start gained |
probably benign |
|
|
R9420:Mab21l1
|
UTSW |
3 |
55,690,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation