Incidental Mutation 'R6557:Ica1l'
| ID |
521883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ica1l
|
| Ensembl Gene |
ENSMUSG00000026018 |
| Gene Name |
islet cell autoantigen 1-like |
| Synonyms |
Als2cr15, b2b3465Clo, 1700030B17Rik |
| MMRRC Submission |
044681-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6557 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
60024955-60082646 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60036784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 336
(T336A)
|
| 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: T336A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000027172
Gene: ENSMUSG00000026018
AA Change: T336A
| Domain | Start | End | E-Value | Type |
|---|
|
Arfaptin
|
15 |
242 |
1.03e-112 |
SMART |
|
ICA69
|
254 |
431 |
1.35e-75 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189776
AA Change: T336A
PolyPhen 2
Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141103
Gene: ENSMUSG00000026018
AA Change: T336A
| 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: T336A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000140520
Gene: ENSMUSG00000026018
AA Change: T336A
| Domain | Start | End | E-Value | Type |
|---|
|
Arfaptin
|
15 |
242 |
1.03e-112 |
SMART |
|
ICA69
|
254 |
431 |
1.35e-75 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccn3 |
A |
T |
15: 54,611,323 (GRCm39) |
R153* |
probably null |
Het |
| Cxcl15 |
C |
T |
5: 90,942,425 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
G |
6: 84,163,366 (GRCm39) |
D1580G |
probably damaging |
Het |
| Gpc5 |
A |
T |
14: 115,329,966 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,760,384 (GRCm39) |
I575V |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,491,231 (GRCm39) |
E174G |
possibly damaging |
Het |
| Hip1 |
T |
C |
5: 135,457,573 (GRCm39) |
D300G |
possibly damaging |
Het |
| Ikzf3 |
C |
T |
11: 98,407,707 (GRCm39) |
A45T |
probably benign |
Het |
| Krtap16-1 |
T |
C |
11: 99,875,956 (GRCm39) |
S483G |
possibly damaging |
Het |
| Lamb2 |
T |
C |
9: 108,365,599 (GRCm39) |
L1394P |
probably damaging |
Het |
| Liph |
T |
A |
16: 21,802,670 (GRCm39) |
E133V |
possibly damaging |
Het |
| Mamdc2 |
A |
G |
19: 23,288,209 (GRCm39) |
S610P |
possibly damaging |
Het |
| Map10 |
T |
C |
8: 126,396,991 (GRCm39) |
V128A |
probably damaging |
Het |
| Mon2 |
C |
A |
10: 122,852,307 (GRCm39) |
C1022F |
probably damaging |
Het |
| Nfatc3 |
T |
C |
8: 106,845,986 (GRCm39) |
S1039P |
probably benign |
Het |
| Or4f52 |
T |
C |
2: 111,061,976 (GRCm39) |
H54R |
probably benign |
Het |
| Scaper |
T |
C |
9: 55,458,134 (GRCm39) |
N879S |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,136,736 (GRCm39) |
Y490H |
probably damaging |
Het |
| Tdrd5 |
T |
C |
1: 156,128,291 (GRCm39) |
K137R |
probably benign |
Het |
| Topaz1 |
A |
G |
9: 122,577,960 (GRCm39) |
N290S |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp638 |
C |
A |
6: 83,907,092 (GRCm39) |
P419Q |
probably damaging |
Het |
| Zzz3 |
T |
A |
3: 152,134,097 (GRCm39) |
L385Q |
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 |
|
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 |
|
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'- AACACTTACTGTTGAAAGCTCCATC -3'
(R):5'- TGGCCATTTGACCTAAATCCTGTC -3'
Sequencing Primer
(F):5'- TCCATCAGCGTGAAGGCCAAG -3'
(R):5'- CTGTTCTCAACCAGCAGTT -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation