Incidental Mutation 'R4155:Ica1l'
| ID |
315068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ica1l
|
| Ensembl Gene |
ENSMUSG00000026018 |
| Gene Name |
islet cell autoantigen 1-like |
| Synonyms |
Als2cr15, b2b3465Clo, 1700030B17Rik |
| MMRRC Submission |
040999-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4155 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
60024955-60082646 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 60053052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 162
(A162V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027172]
[ENSMUST00000189776]
[ENSMUST00000191251]
|
| AlphaFold |
Q3TY65 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027172
AA Change: A162V
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000027172
Gene: ENSMUSG00000026018
AA Change: A162V
| 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 |
possibly damaging
Transcript: ENSMUST00000189776
AA Change: A162V
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000141103
Gene: ENSMUSG00000026018
AA Change: A162V
| Domain | Start | End | E-Value | Type |
|---|
|
Arfaptin
|
15 |
242 |
7.8e-117 |
SMART |
|
ICA69
|
254 |
439 |
2.7e-64 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191251
AA Change: A162V
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000140520
Gene: ENSMUSG00000026018
AA Change: A162V
| Domain | Start | End | E-Value | Type |
|---|
|
Arfaptin
|
15 |
242 |
1.03e-112 |
SMART |
|
ICA69
|
254 |
431 |
1.35e-75 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
T |
A |
3: 145,644,018 (GRCm39) |
F69I |
possibly damaging |
Het |
| Akt3 |
A |
G |
1: 176,924,543 (GRCm39) |
I184T |
possibly damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Armc2 |
A |
G |
10: 41,887,863 (GRCm39) |
V40A |
probably damaging |
Het |
| Ash2l |
A |
G |
8: 26,307,482 (GRCm39) |
Y485H |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,770,177 (GRCm39) |
C1202* |
probably null |
Het |
| Bcl11b |
A |
T |
12: 107,883,684 (GRCm39) |
|
probably null |
Het |
| Birc6 |
C |
A |
17: 74,903,934 (GRCm39) |
S1242R |
probably benign |
Het |
| Blm |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCCTCCTCC |
7: 80,162,652 (GRCm39) |
|
probably benign |
Het |
| Bsx |
A |
G |
9: 40,787,632 (GRCm39) |
E102G |
probably benign |
Het |
| Casq2 |
A |
T |
3: 102,040,418 (GRCm39) |
|
probably null |
Het |
| Ccpg1 |
C |
A |
9: 72,919,449 (GRCm39) |
Q355K |
probably benign |
Het |
| Copa |
T |
G |
1: 171,928,992 (GRCm39) |
N251K |
probably damaging |
Het |
| Cst8 |
C |
A |
2: 148,641,996 (GRCm39) |
A31E |
possibly damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Ecd |
A |
G |
14: 20,374,632 (GRCm39) |
S503P |
probably damaging |
Het |
| Fbn2 |
C |
A |
18: 58,156,359 (GRCm39) |
E2487* |
probably null |
Het |
| Hoxd9 |
A |
G |
2: 74,529,667 (GRCm39) |
I308V |
probably benign |
Het |
| Kcnj15 |
A |
T |
16: 95,097,166 (GRCm39) |
K263* |
probably null |
Het |
| Mettl4 |
T |
C |
17: 95,048,003 (GRCm39) |
M213V |
probably benign |
Het |
| Nalf1 |
T |
A |
8: 9,283,023 (GRCm39) |
Y342F |
possibly damaging |
Het |
| Ncan |
C |
A |
8: 70,562,727 (GRCm39) |
E510D |
possibly damaging |
Het |
| Ndufs4 |
A |
T |
13: 114,444,390 (GRCm39) |
S129R |
probably benign |
Het |
| Or14a259 |
T |
A |
7: 86,013,270 (GRCm39) |
I92L |
probably benign |
Het |
| Or4c127 |
A |
G |
2: 89,833,004 (GRCm39) |
S85G |
probably benign |
Het |
| Or52s19 |
T |
C |
7: 103,008,363 (GRCm39) |
T13A |
probably benign |
Het |
| Or8d1b |
A |
T |
9: 38,887,451 (GRCm39) |
T160S |
probably damaging |
Het |
| P2rx5 |
A |
G |
11: 73,062,655 (GRCm39) |
T455A |
probably damaging |
Het |
| Pcdh1 |
T |
A |
18: 38,336,159 (GRCm39) |
T159S |
probably damaging |
Het |
| Poln |
A |
G |
5: 34,166,993 (GRCm39) |
V755A |
possibly damaging |
Het |
| Pou4f1 |
C |
T |
14: 104,705,153 (GRCm39) |
S6N |
possibly damaging |
Het |
| Rpap1 |
C |
T |
2: 119,604,660 (GRCm39) |
R416H |
probably damaging |
Het |
| Samd4 |
T |
A |
14: 47,290,403 (GRCm39) |
M170K |
possibly damaging |
Het |
| Srgn |
A |
G |
10: 62,333,613 (GRCm39) |
F55L |
possibly damaging |
Het |
| Tmcc1 |
C |
T |
6: 116,110,765 (GRCm39) |
G176D |
probably benign |
Het |
| Tmem232 |
A |
T |
17: 65,743,328 (GRCm39) |
M321K |
probably damaging |
Het |
| Tnfsf11 |
A |
G |
14: 78,537,309 (GRCm39) |
M118T |
probably benign |
Het |
| Tns1 |
T |
A |
1: 73,953,790 (GRCm39) |
N1848Y |
probably damaging |
Het |
| Ttc27 |
T |
G |
17: 75,147,455 (GRCm39) |
I669S |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,779,035 (GRCm39) |
S1141G |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,367,676 (GRCm39) |
V1671E |
probably damaging |
Het |
| Wdr64 |
T |
A |
1: 175,597,172 (GRCm39) |
L73H |
probably benign |
Het |
| Zfp410 |
G |
A |
12: 84,374,206 (GRCm39) |
R181H |
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 |
|
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 |
|
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'- TCTGCCGAAATATCCAAGCAAC -3'
(R):5'- AGCTCCACGATAAATACATGTTGCA -3'
Sequencing Primer
(F):5'- CTGGGCTATACAGTGAGATCCAATC -3'
(R):5'- CCACGATAAATACATGTTGCAATGTG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation