Incidental Mutation 'R0780:Ica1l'
ID |
76570 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ica1l
|
Ensembl Gene |
ENSMUSG00000026018 |
Gene Name |
islet cell autoantigen 1-like |
Synonyms |
Als2cr15, b2b3465Clo, 1700030B17Rik |
MMRRC Submission |
038960-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0780 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
60024955-60082646 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 60036608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140520
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027172]
[ENSMUST00000189776]
[ENSMUST00000191251]
|
AlphaFold |
Q3TY65 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027172
|
SMART Domains |
Protein: ENSMUSP00000027172 Gene: ENSMUSG00000026018
Domain | Start | End | E-Value | Type |
Arfaptin
|
15 |
242 |
1.03e-112 |
SMART |
ICA69
|
254 |
431 |
1.35e-75 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000189776
|
SMART Domains |
Protein: ENSMUSP00000141103 Gene: ENSMUSG00000026018
Domain | Start | End | E-Value | Type |
Arfaptin
|
15 |
242 |
7.8e-117 |
SMART |
ICA69
|
254 |
439 |
2.7e-64 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000191251
|
SMART Domains |
Protein: ENSMUSP00000140520 Gene: ENSMUSG00000026018
Domain | Start | End | E-Value | Type |
Arfaptin
|
15 |
242 |
1.03e-112 |
SMART |
ICA69
|
254 |
431 |
1.35e-75 |
SMART |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ache |
C |
T |
5: 137,288,794 (GRCm39) |
R167C |
probably damaging |
Het |
Ahsa1 |
T |
C |
12: 87,315,102 (GRCm39) |
I85T |
probably benign |
Het |
Btaf1 |
T |
C |
19: 36,966,322 (GRCm39) |
L1030S |
probably damaging |
Het |
Ccdc163 |
A |
G |
4: 116,569,604 (GRCm39) |
K222E |
probably benign |
Het |
Cpsf1 |
A |
G |
15: 76,484,577 (GRCm39) |
F635L |
probably benign |
Het |
Cubn |
G |
A |
2: 13,461,424 (GRCm39) |
T701M |
probably damaging |
Het |
Cxcr2 |
T |
A |
1: 74,198,334 (GRCm39) |
M276K |
probably damaging |
Het |
Daam1 |
T |
A |
12: 71,993,824 (GRCm39) |
I409K |
unknown |
Het |
Dnah10 |
G |
T |
5: 124,827,876 (GRCm39) |
G741W |
possibly damaging |
Het |
Ifi208 |
A |
G |
1: 173,510,262 (GRCm39) |
D139G |
probably benign |
Het |
Kat2b |
T |
A |
17: 53,874,476 (GRCm39) |
V40E |
unknown |
Het |
Kmt2d |
G |
T |
15: 98,760,738 (GRCm39) |
P871T |
unknown |
Het |
Lats2 |
A |
T |
14: 57,928,753 (GRCm39) |
Y1041N |
probably damaging |
Het |
Lifr |
C |
T |
15: 7,206,947 (GRCm39) |
T486I |
probably benign |
Het |
Mtmr4 |
T |
A |
11: 87,502,266 (GRCm39) |
D773E |
probably benign |
Het |
Ptgds |
A |
G |
2: 25,358,104 (GRCm39) |
F143S |
possibly damaging |
Het |
Rp1l1 |
A |
G |
14: 64,267,800 (GRCm39) |
S1129G |
possibly damaging |
Het |
Sdk2 |
A |
G |
11: 113,784,334 (GRCm39) |
V135A |
probably benign |
Het |
Slc12a8 |
G |
A |
16: 33,467,035 (GRCm39) |
|
probably null |
Het |
Thsd7a |
A |
G |
6: 12,337,273 (GRCm39) |
V1248A |
probably damaging |
Het |
Tpr |
T |
A |
1: 150,307,092 (GRCm39) |
H1562Q |
probably benign |
Het |
Uba3 |
G |
A |
6: 97,163,666 (GRCm39) |
R294* |
probably null |
Het |
Vmn2r22 |
A |
T |
6: 123,614,933 (GRCm39) |
V219E |
probably damaging |
Het |
Zfand6 |
T |
A |
7: 84,265,042 (GRCm39) |
I220F |
probably damaging |
Het |
|
Other mutations in Ica1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00771:Ica1l
|
APN |
1 |
60,053,106 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGTGAGGTATTGAGGAGACACCC -3'
(R):5'- CATTTCTGAACAGCCTCCTAAGCCC -3'
Sequencing Primer
(F):5'- AGGAGACACCCCTTGTTTCAG -3'
(R):5'- CCACTTCTTCAAGTGCTAGTGAG -3'
|
Posted On |
2013-10-16 |