Incidental Mutation 'IGL00771:Ica1l'
ID |
11392 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ica1l
|
Ensembl Gene |
ENSMUSG00000026018 |
Gene Name |
islet cell autoantigen 1-like |
Synonyms |
Als2cr15, b2b3465Clo, 1700030B17Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00771
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
60024955-60082646 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 60053106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 144
(D144G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140520
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027172]
[ENSMUST00000189776]
[ENSMUST00000191251]
|
AlphaFold |
Q3TY65 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027172
AA Change: D144G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027172 Gene: ENSMUSG00000026018 AA Change: D144G
Domain | Start | End | E-Value | Type |
Arfaptin
|
15 |
242 |
1.03e-112 |
SMART |
ICA69
|
254 |
431 |
1.35e-75 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187364
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189776
AA Change: D144G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141103 Gene: ENSMUSG00000026018 AA Change: D144G
Domain | Start | End | E-Value | Type |
Arfaptin
|
15 |
242 |
7.8e-117 |
SMART |
ICA69
|
254 |
439 |
2.7e-64 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000191251
AA Change: D144G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140520 Gene: ENSMUSG00000026018 AA Change: D144G
Domain | Start | End | E-Value | Type |
Arfaptin
|
15 |
242 |
1.03e-112 |
SMART |
ICA69
|
254 |
431 |
1.35e-75 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit reduced male fertility with oligospermia, globospermia, and abnormal spermiogenesis, sperm nucleus and mitochondrial sheath morphology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9830107B12Rik |
A |
G |
17: 48,452,855 (GRCm39) |
L28S |
possibly damaging |
Het |
Abca13 |
T |
A |
11: 9,240,870 (GRCm39) |
L911Q |
probably damaging |
Het |
Armc9 |
C |
A |
1: 86,127,557 (GRCm39) |
|
probably null |
Het |
Asxl2 |
A |
G |
12: 3,524,560 (GRCm39) |
H196R |
probably damaging |
Het |
Atm |
T |
C |
9: 53,404,354 (GRCm39) |
D1329G |
probably benign |
Het |
Cds2 |
T |
C |
2: 132,146,272 (GRCm39) |
|
probably benign |
Het |
Cep295 |
A |
T |
9: 15,233,861 (GRCm39) |
C2184S |
probably damaging |
Het |
Cpeb2 |
T |
C |
5: 43,394,890 (GRCm39) |
F623L |
possibly damaging |
Het |
Dmd |
G |
A |
X: 82,951,978 (GRCm39) |
|
probably null |
Het |
F11r |
T |
A |
1: 171,290,510 (GRCm39) |
|
probably null |
Het |
Gbp3 |
C |
T |
3: 142,271,005 (GRCm39) |
|
probably benign |
Het |
Gpc4 |
A |
G |
X: 51,163,527 (GRCm39) |
S119P |
possibly damaging |
Het |
H2-M10.2 |
A |
G |
17: 36,597,288 (GRCm39) |
L9P |
probably damaging |
Het |
Jaml |
A |
G |
9: 45,005,105 (GRCm39) |
K124E |
possibly damaging |
Het |
Lamc2 |
T |
C |
1: 153,005,802 (GRCm39) |
N950S |
probably benign |
Het |
Ltbp1 |
A |
T |
17: 75,669,511 (GRCm39) |
D1099V |
probably damaging |
Het |
Mlxipl |
C |
T |
5: 135,161,632 (GRCm39) |
T517I |
probably damaging |
Het |
Nbeal1 |
C |
T |
1: 60,274,512 (GRCm39) |
R308C |
probably benign |
Het |
Nlrp1a |
A |
T |
11: 71,013,567 (GRCm39) |
L561* |
probably null |
Het |
Prom1 |
A |
T |
5: 44,187,118 (GRCm39) |
|
probably benign |
Het |
Ptprc |
T |
A |
1: 138,041,415 (GRCm39) |
E148V |
probably benign |
Het |
Rap1gap |
T |
C |
4: 137,443,835 (GRCm39) |
V224A |
probably damaging |
Het |
Slc7a6 |
T |
C |
8: 106,905,872 (GRCm39) |
S35P |
probably benign |
Het |
Snx17 |
C |
T |
5: 31,354,679 (GRCm39) |
R314C |
probably damaging |
Het |
Spats2l |
T |
C |
1: 57,982,231 (GRCm39) |
L371P |
probably damaging |
Het |
Spsb1 |
C |
T |
4: 149,991,564 (GRCm39) |
M1I |
probably null |
Het |
Sv2a |
G |
A |
3: 96,100,600 (GRCm39) |
V661I |
probably benign |
Het |
Taar7b |
T |
A |
10: 23,876,096 (GRCm39) |
V87E |
probably benign |
Het |
Tcf7l2 |
G |
A |
19: 55,905,853 (GRCm39) |
V292I |
probably damaging |
Het |
Teddm1b |
T |
A |
1: 153,750,340 (GRCm39) |
C50S |
possibly damaging |
Het |
Trmt10a |
A |
G |
3: 137,856,216 (GRCm39) |
D159G |
probably benign |
Het |
Urod |
T |
C |
4: 116,847,581 (GRCm39) |
N336S |
probably damaging |
Het |
Usp8 |
A |
G |
2: 126,567,353 (GRCm39) |
|
probably null |
Het |
Zfp182 |
A |
G |
X: 20,896,896 (GRCm39) |
Y467H |
probably damaging |
Het |
|
Other mutations in Ica1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01526:Ica1l
|
APN |
1 |
60,054,916 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02538:Ica1l
|
APN |
1 |
60,049,345 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02966:Ica1l
|
APN |
1 |
60,049,298 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03379:Ica1l
|
APN |
1 |
60,036,780 (GRCm39) |
missense |
probably benign |
0.07 |
PIT4466001:Ica1l
|
UTSW |
1 |
60,054,995 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0278:Ica1l
|
UTSW |
1 |
60,053,155 (GRCm39) |
missense |
probably benign |
0.05 |
R0780:Ica1l
|
UTSW |
1 |
60,036,608 (GRCm39) |
critical splice donor site |
probably null |
|
R0926:Ica1l
|
UTSW |
1 |
60,045,456 (GRCm39) |
missense |
probably benign |
0.09 |
R1834:Ica1l
|
UTSW |
1 |
60,067,395 (GRCm39) |
utr 5 prime |
probably benign |
|
R2402:Ica1l
|
UTSW |
1 |
60,045,451 (GRCm39) |
missense |
probably benign |
0.00 |
R4155:Ica1l
|
UTSW |
1 |
60,053,052 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4545:Ica1l
|
UTSW |
1 |
60,052,977 (GRCm39) |
critical splice donor site |
probably null |
|
R4754:Ica1l
|
UTSW |
1 |
60,067,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R4791:Ica1l
|
UTSW |
1 |
60,049,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R5096:Ica1l
|
UTSW |
1 |
60,067,313 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5217:Ica1l
|
UTSW |
1 |
60,054,917 (GRCm39) |
missense |
probably benign |
0.03 |
R5461:Ica1l
|
UTSW |
1 |
60,053,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R5780:Ica1l
|
UTSW |
1 |
60,067,374 (GRCm39) |
missense |
probably benign |
0.04 |
R6557:Ica1l
|
UTSW |
1 |
60,036,784 (GRCm39) |
missense |
probably benign |
0.28 |
R7400:Ica1l
|
UTSW |
1 |
60,081,801 (GRCm39) |
splice site |
probably null |
|
R7560:Ica1l
|
UTSW |
1 |
60,049,369 (GRCm39) |
nonsense |
probably null |
|
R7819:Ica1l
|
UTSW |
1 |
60,054,953 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7824:Ica1l
|
UTSW |
1 |
60,047,029 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2012-12-06 |