Incidental Mutation 'IGL03113:Casd1'
| ID |
419255 |
| 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: 0.306)
|
| Stock # |
IGL03113
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
4600911-4643355 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4640951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 691
(Y691N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015333]
|
| AlphaFold |
Q7TN73 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015333
AA Change: Y691N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000015333
Gene: ENSMUSG00000015189
AA Change: Y691N
| 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 |
unknown
Transcript: ENSMUST00000204372
AA Change: Y125N
|
| Meta Mutation Damage Score |
0.2165 |
| 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 |
|---|
| Apof |
G |
A |
10: 128,105,568 (GRCm39) |
V241M |
probably benign |
Het |
| Arhgef10 |
T |
A |
8: 15,004,505 (GRCm39) |
I91N |
probably damaging |
Het |
| Arhgef17 |
G |
A |
7: 100,578,938 (GRCm39) |
T670I |
probably benign |
Het |
| Barhl1 |
T |
C |
2: 28,805,468 (GRCm39) |
D75G |
probably benign |
Het |
| Capn13 |
T |
C |
17: 73,638,108 (GRCm39) |
T432A |
probably benign |
Het |
| Ccdc175 |
C |
A |
12: 72,191,557 (GRCm39) |
V340L |
probably benign |
Het |
| Cdc5l |
A |
T |
17: 45,744,348 (GRCm39) |
M5K |
possibly damaging |
Het |
| Cgn |
A |
G |
3: 94,686,544 (GRCm39) |
F253L |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,078,712 (GRCm39) |
K2003R |
probably benign |
Het |
| Disp2 |
T |
A |
2: 118,621,259 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,472,163 (GRCm39) |
N3535D |
possibly damaging |
Het |
| Exoc3 |
G |
A |
13: 74,341,232 (GRCm39) |
Q191* |
probably null |
Het |
| Fstl5 |
T |
A |
3: 76,337,099 (GRCm39) |
Y219* |
probably null |
Het |
| Gad2 |
T |
A |
2: 22,571,367 (GRCm39) |
L435Q |
probably benign |
Het |
| Gcnt3 |
A |
G |
9: 69,941,983 (GRCm39) |
V195A |
probably damaging |
Het |
| Haus6 |
G |
A |
4: 86,501,343 (GRCm39) |
Q843* |
probably null |
Het |
| Hivep2 |
T |
A |
10: 14,006,395 (GRCm39) |
F998I |
probably damaging |
Het |
| Hsf5 |
A |
T |
11: 87,548,190 (GRCm39) |
E624D |
probably benign |
Het |
| Klb |
A |
G |
5: 65,540,813 (GRCm39) |
N969D |
probably benign |
Het |
| Klhl6 |
T |
A |
16: 19,776,001 (GRCm39) |
S186C |
possibly damaging |
Het |
| Klk15 |
T |
C |
7: 43,587,805 (GRCm39) |
F78L |
probably benign |
Het |
| Ldlr |
A |
G |
9: 21,651,124 (GRCm39) |
E514G |
possibly damaging |
Het |
| Map9 |
T |
A |
3: 82,267,285 (GRCm39) |
|
probably benign |
Het |
| Miga2 |
A |
T |
2: 30,274,022 (GRCm39) |
I99F |
possibly damaging |
Het |
| Morc4 |
T |
C |
X: 138,758,605 (GRCm39) |
E189G |
probably benign |
Het |
| Nhlrc3 |
A |
T |
3: 53,365,984 (GRCm39) |
Y170N |
possibly damaging |
Het |
| Or3a1b |
G |
A |
11: 74,012,529 (GRCm39) |
R138Q |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,844,379 (GRCm39) |
F10L |
probably damaging |
Het |
| Or51b6b |
A |
T |
7: 103,309,851 (GRCm39) |
V202D |
possibly damaging |
Het |
| Or52u1 |
A |
T |
7: 104,237,940 (GRCm39) |
R310W |
probably benign |
Het |
| Or5o1 |
T |
A |
X: 48,815,939 (GRCm39) |
N291Y |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,506 (GRCm39) |
Q54R |
probably benign |
Het |
| Or8g32 |
A |
C |
9: 39,305,981 (GRCm39) |
K295T |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,784,793 (GRCm39) |
T1997I |
probably benign |
Het |
| Poln |
A |
G |
5: 34,274,206 (GRCm39) |
S377P |
probably benign |
Het |
| Rab22a |
T |
A |
2: 173,503,265 (GRCm39) |
V26E |
probably damaging |
Het |
| Rhbdl3 |
T |
C |
11: 80,244,439 (GRCm39) |
V382A |
possibly damaging |
Het |
| Slitrk3 |
G |
T |
3: 72,957,723 (GRCm39) |
Q350K |
probably benign |
Het |
| Sult1d1 |
A |
T |
5: 87,707,738 (GRCm39) |
Y127* |
probably null |
Het |
| Vmn1r73 |
A |
T |
7: 11,490,527 (GRCm39) |
Y115F |
probably benign |
Het |
| Zfp128 |
T |
A |
7: 12,624,314 (GRCm39) |
D227E |
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 |
|
IGL02124:Casd1
|
APN |
6 |
4,624,142 (GRCm39) |
missense |
probably benign |
0.26 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation