Incidental Mutation 'PIT4466001:Ica1l'
| ID |
555761 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4466001 (G1)
|
| Quality Score |
193.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
60024955-60082646 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
C to T
at 60054995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027172]
[ENSMUST00000027172]
[ENSMUST00000027172]
[ENSMUST00000189776]
[ENSMUST00000189776]
[ENSMUST00000189776]
[ENSMUST00000191251]
[ENSMUST00000191251]
[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: 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: 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: 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: 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 |
|
| 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 |
|
| 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: 93.5%
- 3x: 90.9%
- 10x: 85.1%
- 20x: 72.5%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
C |
A |
9: 99,502,613 (GRCm39) |
P258T |
probably damaging |
Het |
| Adamts1 |
C |
A |
16: 85,593,579 (GRCm39) |
G719* |
probably null |
Het |
| Ano5 |
G |
T |
7: 51,194,599 (GRCm39) |
D111Y |
probably damaging |
Het |
| Arvcf |
T |
C |
16: 18,221,699 (GRCm39) |
V714A |
possibly damaging |
Het |
| AU021092 |
T |
A |
16: 5,038,253 (GRCm39) |
S85C |
probably damaging |
Het |
| Capn5 |
T |
C |
7: 97,773,195 (GRCm39) |
D603G |
probably benign |
Het |
| Cbr1 |
T |
A |
16: 93,406,692 (GRCm39) |
V136E |
probably damaging |
Het |
| Ccdc27 |
T |
C |
4: 154,126,184 (GRCm39) |
M102V |
unknown |
Het |
| Ccr1 |
T |
C |
9: 123,763,765 (GRCm39) |
Y255C |
probably damaging |
Het |
| Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,410,722 (GRCm39) |
T553A |
probably benign |
Het |
| Chd7 |
C |
T |
4: 8,753,101 (GRCm39) |
L533F |
unknown |
Het |
| Cntnap1 |
T |
C |
11: 101,068,131 (GRCm39) |
F48L |
probably benign |
Het |
| Cyb5r3 |
T |
C |
15: 83,046,064 (GRCm39) |
D84G |
probably damaging |
Het |
| Ddx47 |
T |
C |
6: 134,992,803 (GRCm39) |
I154T |
probably benign |
Het |
| Dennd2b |
G |
A |
7: 109,130,337 (GRCm39) |
A888V |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,185,624 (GRCm39) |
L99P |
probably benign |
Het |
| Dzank1 |
A |
G |
2: 144,325,293 (GRCm39) |
I558T |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,148,421 (GRCm39) |
D2609G |
possibly damaging |
Het |
| Fhl5 |
C |
A |
4: 25,211,194 (GRCm39) |
C166F |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 7,969,206 (GRCm39) |
L1553P |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,890,374 (GRCm39) |
T1035I |
probably benign |
Het |
| Gm3099 |
A |
G |
14: 15,346,517 (GRCm39) |
M128V |
probably benign |
Het |
| Gpaa1 |
C |
T |
15: 76,218,940 (GRCm39) |
T594I |
probably benign |
Het |
| Hck |
C |
T |
2: 152,966,191 (GRCm39) |
T55M |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,471,123 (GRCm39) |
|
probably null |
Het |
| Ilf3 |
T |
C |
9: 21,314,662 (GRCm39) |
Y765H |
unknown |
Het |
| Mast4 |
G |
A |
13: 102,941,226 (GRCm39) |
T277M |
probably damaging |
Het |
| Mfsd6 |
T |
C |
1: 52,748,056 (GRCm39) |
T270A |
probably benign |
Het |
| Mib1 |
G |
A |
18: 10,775,541 (GRCm39) |
D498N |
probably benign |
Het |
| Naaladl1 |
A |
T |
19: 6,164,663 (GRCm39) |
T576S |
possibly damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,247,577 (GRCm39) |
I1909N |
probably benign |
Het |
| Negr1 |
A |
G |
3: 156,565,235 (GRCm39) |
D107G |
probably benign |
Het |
| Nlrc4 |
A |
G |
17: 74,734,114 (GRCm39) |
M933T |
probably benign |
Het |
| Nmnat3 |
T |
G |
9: 98,292,306 (GRCm39) |
F184V |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,096,639 (GRCm39) |
V45E |
probably damaging |
Het |
| Or5p81 |
T |
C |
7: 108,266,743 (GRCm39) |
V40A |
possibly damaging |
Het |
| Or6c76 |
C |
T |
10: 129,612,142 (GRCm39) |
R120C |
probably benign |
Het |
| Or7a42 |
C |
A |
10: 78,791,676 (GRCm39) |
F212L |
probably benign |
Het |
| Pfkfb4 |
T |
C |
9: 108,828,222 (GRCm39) |
Y86H |
probably benign |
Het |
| Pgm5 |
T |
G |
19: 24,801,693 (GRCm39) |
Q178H |
probably damaging |
Het |
| Phrf1 |
C |
T |
7: 140,838,725 (GRCm39) |
T640M |
unknown |
Het |
| Pramel34 |
A |
C |
5: 93,784,147 (GRCm39) |
L439R |
probably damaging |
Het |
| Psg18 |
T |
G |
7: 18,083,241 (GRCm39) |
T305P |
probably benign |
Het |
| Skil |
T |
A |
3: 31,152,381 (GRCm39) |
V301D |
probably damaging |
Het |
| Slc36a1 |
C |
A |
11: 55,109,895 (GRCm39) |
P68T |
probably damaging |
Het |
| Smim6 |
T |
C |
11: 115,804,371 (GRCm39) |
F53L |
probably benign |
Het |
| Tpgs2 |
G |
A |
18: 25,301,652 (GRCm39) |
T5M |
possibly damaging |
Het |
| Trrap |
T |
A |
5: 144,765,410 (GRCm39) |
V2523D |
probably benign |
Het |
| Usp9y |
A |
T |
Y: 1,432,197 (GRCm39) |
D429E |
probably damaging |
Het |
| Vmn1r125 |
A |
G |
7: 21,006,818 (GRCm39) |
T239A |
probably benign |
Het |
| Vmn1r168 |
T |
C |
7: 23,240,421 (GRCm39) |
F93L |
probably damaging |
Het |
| Vmn1r88 |
A |
G |
7: 12,912,403 (GRCm39) |
N253S |
possibly damaging |
Het |
| Zfp644 |
C |
T |
5: 106,784,343 (GRCm39) |
A735T |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACATCAGGAGGGTCACATG -3'
(R):5'- ACACATGAGACTGTTTCTTCCC -3'
Sequencing Primer
(F):5'- GTCACATGACTACAATCCAAGGGTG -3'
(R):5'- GTGTTTACCCACGTGCCACAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation