Incidental Mutation 'IGL02124:Casd1'
ID |
280757 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Casd1
|
Ensembl Gene |
ENSMUSG00000015189 |
Gene Name |
CAS1 domain containing 1 |
Synonyms |
Cast1 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.298)
|
Stock # |
IGL02124
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
4600911-4643355 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 4624142 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 312
(I312F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000015333
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015333]
[ENSMUST00000181734]
|
AlphaFold |
Q7TN73 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000015333
AA Change: I312F
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000015333 Gene: ENSMUSG00000015189 AA Change: I312F
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
39 |
N/A |
INTRINSIC |
Pfam:PC-Esterase
|
71 |
292 |
6.3e-33 |
PFAM |
Pfam:Cas1_AcylT
|
295 |
776 |
9.4e-220 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141359
|
SMART Domains |
Protein: ENSMUSP00000115427 Gene: ENSMUSG00000015189
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
Pfam:PC-Esterase
|
60 |
113 |
1.5e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181734
|
SMART Domains |
Protein: ENSMUSP00000137822 Gene: ENSMUSG00000015189
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
39 |
N/A |
INTRINSIC |
Pfam:PC-Esterase
|
74 |
271 |
2.9e-18 |
PFAM |
Pfam:Cas1_AcylT
|
272 |
402 |
3.4e-45 |
PFAM |
Pfam:Cas1_AcylT
|
399 |
484 |
3.4e-37 |
PFAM |
Pfam:Cas1_AcylT
|
480 |
527 |
4.4e-11 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810024B03Rik |
T |
C |
2: 127,028,654 (GRCm39) |
R182G |
possibly damaging |
Het |
Cdc27 |
T |
C |
11: 104,413,557 (GRCm39) |
T395A |
probably damaging |
Het |
Cep152 |
A |
G |
2: 125,405,381 (GRCm39) |
I1717T |
probably benign |
Het |
Ces1f |
A |
T |
8: 93,992,488 (GRCm39) |
V321E |
possibly damaging |
Het |
Chrnb3 |
T |
C |
8: 27,886,832 (GRCm39) |
|
probably benign |
Het |
Col14a1 |
T |
A |
15: 55,327,099 (GRCm39) |
F1416L |
unknown |
Het |
Cplx4 |
T |
C |
18: 66,103,123 (GRCm39) |
|
probably benign |
Het |
Cubn |
A |
T |
2: 13,386,648 (GRCm39) |
I1539N |
probably damaging |
Het |
Dapk1 |
A |
G |
13: 60,878,696 (GRCm39) |
T562A |
probably benign |
Het |
Dnmt1 |
C |
A |
9: 20,819,845 (GRCm39) |
V1433F |
probably damaging |
Het |
Dytn |
A |
G |
1: 63,680,251 (GRCm39) |
L436P |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,117,841 (GRCm39) |
I783V |
probably benign |
Het |
Fat4 |
T |
A |
3: 38,942,553 (GRCm39) |
V482E |
probably damaging |
Het |
Fcrlb |
T |
A |
1: 170,734,927 (GRCm39) |
E400V |
probably benign |
Het |
Folh1 |
T |
C |
7: 86,374,626 (GRCm39) |
D656G |
probably damaging |
Het |
Frem3 |
A |
C |
8: 81,339,723 (GRCm39) |
D672A |
probably damaging |
Het |
G3bp2 |
A |
G |
5: 92,221,106 (GRCm39) |
M3T |
possibly damaging |
Het |
Gm973 |
C |
T |
1: 59,621,632 (GRCm39) |
Q26* |
probably null |
Het |
Hsp90b1 |
T |
C |
10: 86,541,222 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
G |
A |
4: 137,246,125 (GRCm39) |
|
probably null |
Het |
Lpin3 |
T |
C |
2: 160,737,753 (GRCm39) |
|
probably null |
Het |
Mtss2 |
G |
A |
8: 111,464,256 (GRCm39) |
R295Q |
probably damaging |
Het |
Muc5b |
G |
T |
7: 141,409,369 (GRCm39) |
W1151L |
unknown |
Het |
Myo3a |
A |
G |
2: 22,467,538 (GRCm39) |
Y264C |
probably benign |
Het |
Or4c123 |
A |
G |
2: 89,127,407 (GRCm39) |
V69A |
probably benign |
Het |
Or55b3 |
T |
C |
7: 102,126,742 (GRCm39) |
T112A |
possibly damaging |
Het |
Or5p60 |
T |
A |
7: 107,724,249 (GRCm39) |
I74L |
probably benign |
Het |
Pecam1 |
C |
T |
11: 106,581,807 (GRCm39) |
G380S |
probably damaging |
Het |
Phf21a |
C |
T |
2: 92,179,767 (GRCm39) |
T345I |
probably damaging |
Het |
Polg |
G |
A |
7: 79,109,485 (GRCm39) |
S444L |
probably damaging |
Het |
Prickle1 |
A |
G |
15: 93,401,027 (GRCm39) |
Y486H |
probably damaging |
Het |
Scg5 |
G |
A |
2: 113,622,382 (GRCm39) |
|
probably benign |
Het |
Septin5 |
G |
T |
16: 18,443,579 (GRCm39) |
D123E |
probably damaging |
Het |
Skint6 |
G |
A |
4: 112,944,993 (GRCm39) |
T483I |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,091,581 (GRCm39) |
|
probably benign |
Het |
Tepsin |
T |
C |
11: 119,982,547 (GRCm39) |
R440G |
probably benign |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Trpm4 |
A |
T |
7: 44,959,947 (GRCm39) |
V649E |
probably damaging |
Het |
Usf3 |
C |
A |
16: 44,040,019 (GRCm39) |
Q1500K |
possibly damaging |
Het |
Vmn1r231 |
T |
C |
17: 21,110,568 (GRCm39) |
S116G |
probably damaging |
Het |
Vmn1r45 |
T |
A |
6: 89,910,035 (GRCm39) |
I312L |
probably benign |
Het |
|
Other mutations in Casd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00704:Casd1
|
APN |
6 |
4,607,979 (GRCm39) |
splice site |
probably benign |
|
IGL00788:Casd1
|
APN |
6 |
4,624,400 (GRCm39) |
missense |
probably benign |
0.30 |
IGL01161:Casd1
|
APN |
6 |
4,619,833 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL01558:Casd1
|
APN |
6 |
4,624,143 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL02550:Casd1
|
APN |
6 |
4,642,009 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02822:Casd1
|
APN |
6 |
4,630,017 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02957:Casd1
|
APN |
6 |
4,634,068 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL03113:Casd1
|
APN |
6 |
4,640,951 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03138:Casd1
|
UTSW |
6 |
4,613,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R0653:Casd1
|
UTSW |
6 |
4,608,075 (GRCm39) |
missense |
probably benign |
0.00 |
R0673:Casd1
|
UTSW |
6 |
4,624,440 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0729:Casd1
|
UTSW |
6 |
4,619,753 (GRCm39) |
splice site |
probably benign |
|
R0742:Casd1
|
UTSW |
6 |
4,635,888 (GRCm39) |
critical splice donor site |
probably null |
|
R0941:Casd1
|
UTSW |
6 |
4,635,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R1056:Casd1
|
UTSW |
6 |
4,641,967 (GRCm39) |
missense |
probably benign |
0.03 |
R1390:Casd1
|
UTSW |
6 |
4,641,859 (GRCm39) |
missense |
probably benign |
0.04 |
R1394:Casd1
|
UTSW |
6 |
4,624,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R1643:Casd1
|
UTSW |
6 |
4,621,243 (GRCm39) |
missense |
probably benign |
0.06 |
R1653:Casd1
|
UTSW |
6 |
4,624,134 (GRCm39) |
missense |
probably benign |
0.00 |
R1713:Casd1
|
UTSW |
6 |
4,624,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R1861:Casd1
|
UTSW |
6 |
4,640,951 (GRCm39) |
missense |
probably damaging |
0.99 |
R1906:Casd1
|
UTSW |
6 |
4,641,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R2094:Casd1
|
UTSW |
6 |
4,608,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R3793:Casd1
|
UTSW |
6 |
4,619,876 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3896:Casd1
|
UTSW |
6 |
4,640,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R4519:Casd1
|
UTSW |
6 |
4,621,102 (GRCm39) |
missense |
probably benign |
0.00 |
R4610:Casd1
|
UTSW |
6 |
4,631,165 (GRCm39) |
critical splice donor site |
probably null |
|
R4673:Casd1
|
UTSW |
6 |
4,629,975 (GRCm39) |
missense |
probably damaging |
0.97 |
R4819:Casd1
|
UTSW |
6 |
4,621,225 (GRCm39) |
missense |
probably damaging |
0.99 |
R5920:Casd1
|
UTSW |
6 |
4,641,853 (GRCm39) |
missense |
probably null |
1.00 |
R5929:Casd1
|
UTSW |
6 |
4,629,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R6130:Casd1
|
UTSW |
6 |
4,641,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R6181:Casd1
|
UTSW |
6 |
4,619,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R6291:Casd1
|
UTSW |
6 |
4,619,834 (GRCm39) |
missense |
probably damaging |
0.96 |
R6305:Casd1
|
UTSW |
6 |
4,641,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R7147:Casd1
|
UTSW |
6 |
4,624,187 (GRCm39) |
missense |
probably benign |
0.07 |
R7150:Casd1
|
UTSW |
6 |
4,624,211 (GRCm39) |
missense |
probably benign |
0.01 |
R7657:Casd1
|
UTSW |
6 |
4,619,773 (GRCm39) |
missense |
probably benign |
0.00 |
R7983:Casd1
|
UTSW |
6 |
4,624,472 (GRCm39) |
nonsense |
probably null |
|
R8033:Casd1
|
UTSW |
6 |
4,619,773 (GRCm39) |
missense |
probably benign |
0.00 |
R8234:Casd1
|
UTSW |
6 |
4,601,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R8748:Casd1
|
UTSW |
6 |
4,608,634 (GRCm39) |
missense |
probably benign |
0.02 |
R8985:Casd1
|
UTSW |
6 |
4,624,399 (GRCm39) |
nonsense |
probably null |
|
X0021:Casd1
|
UTSW |
6 |
4,641,935 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Casd1
|
UTSW |
6 |
4,631,531 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Posted On |
2015-04-16 |