Incidental Mutation 'R4819:Casd1'
| ID |
370047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casd1
|
| Ensembl Gene |
ENSMUSG00000015189 |
| Gene Name |
CAS1 domain containing 1 |
| Synonyms |
Cast1 |
| MMRRC Submission |
042000-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
R4819 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
4600911-4643355 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4621225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 261
(A261V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015333]
[ENSMUST00000181734]
|
| AlphaFold |
Q7TN73 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015333
AA Change: A261V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000015333
Gene: ENSMUSG00000015189
AA Change: A261V
| 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 |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,240,421 (GRCm39) |
N761K |
possibly damaging |
Het |
| Adgrf3 |
T |
A |
5: 30,403,442 (GRCm39) |
L444F |
possibly damaging |
Het |
| Akap8 |
G |
A |
17: 32,531,279 (GRCm39) |
R378W |
probably damaging |
Het |
| Amotl2 |
C |
T |
9: 102,607,270 (GRCm39) |
R693W |
probably damaging |
Het |
| As3mt |
G |
T |
19: 46,695,968 (GRCm39) |
|
probably benign |
Het |
| Atp6v1e2 |
A |
G |
17: 87,251,966 (GRCm39) |
V144A |
probably benign |
Het |
| Bfar |
C |
T |
16: 13,505,331 (GRCm39) |
Q114* |
probably null |
Het |
| Cd177 |
A |
T |
7: 24,451,696 (GRCm39) |
I440K |
probably damaging |
Het |
| Cfap54 |
G |
T |
10: 92,672,339 (GRCm39) |
Y2910* |
probably null |
Het |
| Csl |
A |
G |
10: 99,593,944 (GRCm39) |
F374L |
possibly damaging |
Het |
| Dctn1 |
G |
A |
6: 83,167,501 (GRCm39) |
R275H |
probably damaging |
Het |
| Derl3 |
A |
G |
10: 75,729,713 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,007,916 (GRCm39) |
I117V |
probably benign |
Het |
| Edc3 |
T |
A |
9: 57,655,680 (GRCm39) |
C477S |
possibly damaging |
Het |
| Efs |
T |
C |
14: 55,154,610 (GRCm39) |
E450G |
probably damaging |
Het |
| Fcrla |
T |
A |
1: 170,748,508 (GRCm39) |
I212F |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,818,786 (GRCm39) |
I4840V |
probably benign |
Het |
| Gpam |
T |
A |
19: 55,066,773 (GRCm39) |
I581F |
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,458,358 (GRCm39) |
D45G |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,783,820 (GRCm39) |
Y478H |
probably damaging |
Het |
| Hspa9 |
C |
T |
18: 35,072,441 (GRCm39) |
M561I |
probably damaging |
Het |
| Hyal6 |
T |
A |
6: 24,734,965 (GRCm39) |
Y299* |
probably null |
Het |
| Iho1 |
A |
G |
9: 108,283,877 (GRCm39) |
V189A |
probably benign |
Het |
| Ik |
T |
A |
18: 36,886,310 (GRCm39) |
|
probably null |
Het |
| Khsrp |
A |
G |
17: 57,330,360 (GRCm39) |
S582P |
possibly damaging |
Het |
| Kif18a |
A |
G |
2: 109,122,471 (GRCm39) |
D182G |
probably damaging |
Het |
| Krt1c |
T |
C |
15: 101,719,979 (GRCm39) |
T564A |
unknown |
Het |
| Lig4 |
A |
G |
8: 10,021,885 (GRCm39) |
S632P |
probably benign |
Het |
| Med1 |
C |
T |
11: 98,046,258 (GRCm39) |
|
probably benign |
Het |
| Mgat3 |
T |
A |
15: 80,096,550 (GRCm39) |
I459N |
probably damaging |
Het |
| Mkln1 |
A |
T |
6: 31,451,421 (GRCm39) |
Q454L |
probably benign |
Het |
| Mn1 |
A |
G |
5: 111,567,803 (GRCm39) |
E591G |
possibly damaging |
Het |
| Myo5c |
T |
A |
9: 75,199,484 (GRCm39) |
L1364Q |
probably damaging |
Het |
| Oas1d |
T |
C |
5: 121,053,780 (GRCm39) |
V80A |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,929,674 (GRCm39) |
D5180E |
probably damaging |
Het |
| Pax6 |
G |
A |
2: 105,522,622 (GRCm39) |
|
probably null |
Het |
| Pcdh15 |
A |
C |
10: 74,160,221 (GRCm39) |
N446T |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,581,969 (GRCm39) |
F922L |
probably benign |
Het |
| Ptpn4 |
G |
T |
1: 119,587,580 (GRCm39) |
T921K |
probably benign |
Het |
| Selenov |
A |
G |
7: 27,989,746 (GRCm39) |
|
probably null |
Het |
| Tmem100 |
A |
G |
11: 89,926,271 (GRCm39) |
T33A |
probably benign |
Het |
| Tmem59 |
C |
T |
4: 107,044,878 (GRCm39) |
Q66* |
probably null |
Het |
| Trav21-dv12 |
T |
A |
14: 54,114,070 (GRCm39) |
Y63* |
probably null |
Het |
| Trim66 |
G |
T |
7: 109,056,793 (GRCm39) |
H1121Q |
probably damaging |
Het |
| Trim80 |
A |
G |
11: 115,338,769 (GRCm39) |
Y533C |
probably damaging |
Het |
| Ttc17 |
G |
A |
2: 94,194,955 (GRCm39) |
P520L |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,622,093 (GRCm39) |
V15483E |
probably damaging |
Het |
| Vinac1 |
G |
T |
2: 128,882,721 (GRCm39) |
N98K |
probably damaging |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
C |
A |
3: 5,468,974 (GRCm39) |
T3069K |
probably benign |
Het |
| Zfp281 |
A |
G |
1: 136,553,448 (GRCm39) |
H142R |
probably benign |
Het |
| Zfp462 |
G |
T |
4: 55,060,044 (GRCm39) |
R1190L |
probably damaging |
Het |
| Zfp935 |
T |
A |
13: 62,602,231 (GRCm39) |
H323L |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAGACGCGTGGACCTTTATTC -3'
(R):5'- CATCAGTTAGGTGACAGAAAGC -3'
Sequencing Primer
(F):5'- ACGCGTGGACCTTTATTCTAAGTG -3'
(R):5'- ATTAGCACCTGAGTCCAG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation