Incidental Mutation 'R5780:Ica1l'
ID |
446908 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ica1l
|
Ensembl Gene |
ENSMUSG00000026018 |
Gene Name |
islet cell autoantigen 1-like |
Synonyms |
Als2cr15, b2b3465Clo, 1700030B17Rik |
MMRRC Submission |
043205-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5780 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
60024955-60082646 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 60067374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 5
(E5D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140520
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027172]
[ENSMUST00000189776]
[ENSMUST00000191251]
|
AlphaFold |
Q3TY65 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027172
AA Change: E5D
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000027172 Gene: ENSMUSG00000026018 AA Change: E5D
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: ENSMUST00000186970
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189776
AA Change: E5D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000141103 Gene: ENSMUSG00000026018 AA Change: E5D
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: E5D
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000140520 Gene: ENSMUSG00000026018 AA Change: E5D
Domain | Start | End | E-Value | Type |
Arfaptin
|
15 |
242 |
1.03e-112 |
SMART |
ICA69
|
254 |
431 |
1.35e-75 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630001G21Rik |
C |
T |
1: 85,646,039 (GRCm39) |
A189T |
probably benign |
Het |
Acsm4 |
A |
G |
7: 119,293,068 (GRCm39) |
E66G |
possibly damaging |
Het |
Afm |
A |
G |
5: 90,699,290 (GRCm39) |
E578G |
possibly damaging |
Het |
Alox5 |
A |
T |
6: 116,397,310 (GRCm39) |
D291E |
probably benign |
Het |
Apoa4 |
A |
G |
9: 46,153,890 (GRCm39) |
M164V |
possibly damaging |
Het |
Atp6v1a |
A |
T |
16: 43,935,006 (GRCm39) |
M61K |
probably benign |
Het |
Avp |
A |
G |
2: 130,422,629 (GRCm39) |
S159P |
probably benign |
Het |
Bicra |
A |
T |
7: 15,713,679 (GRCm39) |
L841Q |
possibly damaging |
Het |
Cdk5rap1 |
CTT |
CT |
2: 154,187,788 (GRCm39) |
|
probably null |
Het |
Clasp2 |
T |
G |
9: 113,679,220 (GRCm39) |
L246R |
probably damaging |
Het |
Dhdds |
G |
A |
4: 133,724,141 (GRCm39) |
L58F |
probably damaging |
Het |
Dmkn |
A |
G |
7: 30,477,040 (GRCm39) |
D227G |
probably damaging |
Het |
Dnah7a |
G |
A |
1: 53,522,478 (GRCm39) |
A2920V |
probably benign |
Het |
Epb41l1 |
C |
T |
2: 156,338,445 (GRCm39) |
R163W |
probably damaging |
Het |
Etfbkmt |
T |
A |
6: 149,048,657 (GRCm39) |
Y99N |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,035,104 (GRCm39) |
Y2919H |
probably damaging |
Het |
Fcgbp |
T |
A |
7: 27,784,643 (GRCm39) |
D234E |
probably benign |
Het |
Frem1 |
T |
C |
4: 82,868,652 (GRCm39) |
D1443G |
probably benign |
Het |
Fscn2 |
A |
C |
11: 120,257,494 (GRCm39) |
E285A |
probably benign |
Het |
Hmga2 |
T |
A |
10: 120,298,583 (GRCm39) |
R79* |
probably null |
Het |
Hrh3 |
A |
T |
2: 179,742,608 (GRCm39) |
V308E |
probably damaging |
Het |
Hsd11b2 |
G |
A |
8: 106,248,787 (GRCm39) |
G93D |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,312,712 (GRCm39) |
F4151S |
probably damaging |
Het |
Kcnma1 |
C |
A |
14: 23,436,419 (GRCm39) |
E640* |
probably null |
Het |
Mdn1 |
C |
T |
4: 32,722,950 (GRCm39) |
H2422Y |
probably benign |
Het |
Mgarp |
T |
C |
3: 51,299,269 (GRCm39) |
T47A |
probably damaging |
Het |
Mmp13 |
T |
G |
9: 7,278,952 (GRCm39) |
F348V |
possibly damaging |
Het |
Mov10l1 |
A |
G |
15: 88,896,181 (GRCm39) |
D675G |
probably benign |
Het |
Mtcl2 |
A |
G |
2: 156,860,410 (GRCm39) |
C1610R |
probably damaging |
Het |
Nxpe3 |
T |
A |
16: 55,686,804 (GRCm39) |
Q68L |
probably damaging |
Het |
Or4k41 |
A |
T |
2: 111,280,178 (GRCm39) |
D231V |
probably benign |
Het |
Or6c208 |
T |
C |
10: 129,223,939 (GRCm39) |
S146P |
probably damaging |
Het |
Or7e175 |
T |
A |
9: 20,048,793 (GRCm39) |
M127K |
probably damaging |
Het |
Pald1 |
A |
T |
10: 61,174,997 (GRCm39) |
I751N |
probably damaging |
Het |
Pramel19 |
C |
T |
4: 101,798,724 (GRCm39) |
L232F |
probably damaging |
Het |
Prickle2 |
T |
C |
6: 92,435,593 (GRCm39) |
T3A |
probably benign |
Het |
Ros1 |
A |
T |
10: 52,070,953 (GRCm39) |
C34S |
probably damaging |
Het |
Sema3f |
A |
G |
9: 107,559,788 (GRCm39) |
L702P |
probably damaging |
Het |
Sptbn2 |
T |
A |
19: 4,774,695 (GRCm39) |
L116Q |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,533,877 (GRCm39) |
V3378A |
probably benign |
Het |
Sycp2l |
A |
G |
13: 41,282,976 (GRCm39) |
I158V |
possibly damaging |
Het |
Tbc1d10b |
G |
A |
7: 126,797,925 (GRCm39) |
R739W |
possibly damaging |
Het |
Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
Ube4b |
C |
T |
4: 149,415,821 (GRCm39) |
R1091Q |
probably benign |
Het |
Vwce |
C |
A |
19: 10,627,983 (GRCm39) |
P481Q |
probably damaging |
Het |
Zfp1005 |
T |
A |
2: 150,108,139 (GRCm39) |
M33K |
probably benign |
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 |
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'- TGCAGCACACAGAGCCTTC -3'
(R):5'- ATAGGTACAGAACAGCTTTGTAAAG -3'
Sequencing Primer
(F):5'- TCACACTTACCTCCAACTTAGCG -3'
(R):5'- TCTTCATTTTCCAGTATACTGCAAAG -3'
|
Posted On |
2016-12-15 |