Incidental Mutation 'R8234:Casd1'
ID |
637263 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Casd1
|
Ensembl Gene |
ENSMUSG00000015189 |
Gene Name |
CAS1 domain containing 1 |
Synonyms |
Cast1 |
MMRRC Submission |
067666-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.298)
|
Stock # |
R8234 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
4600911-4643355 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4601209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 14
(N14S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000015333
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015333]
[ENSMUST00000153963]
[ENSMUST00000181734]
|
AlphaFold |
Q7TN73 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000015333
AA Change: N14S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000015333 Gene: ENSMUSG00000015189 AA Change: N14S
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 |
|
SMART Domains |
Protein: ENSMUSP00000115427 Gene: ENSMUSG00000015189 AA Change: N2S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
Pfam:PC-Esterase
|
60 |
113 |
1.5e-13 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000153963
AA Change: N14S
|
SMART Domains |
Protein: ENSMUSP00000145445 Gene: ENSMUSG00000015189 AA Change: N14S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000181734
AA Change: N14S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000137822 Gene: ENSMUSG00000015189 AA Change: N14S
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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.8%
|
Validation Efficiency |
100% (49/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd4 |
T |
A |
14: 54,499,133 (GRCm39) |
M38K |
probably benign |
Het |
Ackr1 |
T |
A |
1: 173,159,582 (GRCm39) |
R312S |
probably benign |
Het |
Akap9 |
T |
C |
5: 4,094,845 (GRCm39) |
V2213A |
probably benign |
Het |
Alox5 |
T |
A |
6: 116,390,835 (GRCm39) |
R439W |
probably damaging |
Het |
Atrn |
A |
T |
2: 130,864,920 (GRCm39) |
|
probably null |
Het |
Cry2 |
T |
C |
2: 92,242,974 (GRCm39) |
S542G |
probably benign |
Het |
Cyb5rl |
A |
G |
4: 106,925,935 (GRCm39) |
Y39C |
probably damaging |
Het |
Dmpk |
A |
T |
7: 18,822,048 (GRCm39) |
K335N |
probably benign |
Het |
Dnai1 |
A |
G |
4: 41,625,221 (GRCm39) |
D395G |
probably benign |
Het |
Dock4 |
C |
T |
12: 40,884,837 (GRCm39) |
|
probably null |
Het |
Eif1ad5 |
A |
T |
12: 87,940,508 (GRCm39) |
I71L |
noncoding transcript |
Het |
Fmo4 |
T |
C |
1: 162,632,757 (GRCm39) |
D198G |
probably damaging |
Het |
Foxc2 |
G |
A |
8: 121,844,777 (GRCm39) |
R475Q |
probably damaging |
Het |
Gipr |
C |
A |
7: 18,898,533 (GRCm39) |
G37V |
unknown |
Het |
Gpat3 |
T |
C |
5: 101,005,076 (GRCm39) |
|
probably null |
Het |
Hcn4 |
A |
G |
9: 58,751,433 (GRCm39) |
D353G |
unknown |
Het |
Hectd4 |
T |
A |
5: 121,477,607 (GRCm39) |
N2843K |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,469,761 (GRCm39) |
V4973M |
possibly damaging |
Het |
Il20rb |
C |
T |
9: 100,341,263 (GRCm39) |
S281N |
probably benign |
Het |
Kcnh4 |
A |
T |
11: 100,643,093 (GRCm39) |
N391K |
possibly damaging |
Het |
Kitl |
A |
G |
10: 99,887,708 (GRCm39) |
T6A |
probably damaging |
Het |
Krt36 |
A |
G |
11: 99,995,027 (GRCm39) |
Y182H |
probably damaging |
Het |
Lrp1b |
T |
G |
2: 41,202,668 (GRCm39) |
I1262L |
|
Het |
Mtf1 |
A |
G |
4: 124,738,039 (GRCm39) |
E644G |
probably benign |
Het |
Mtx2 |
A |
G |
2: 74,699,706 (GRCm39) |
Y159C |
probably damaging |
Het |
Nags |
C |
T |
11: 102,039,824 (GRCm39) |
S504F |
probably damaging |
Het |
Ncam1 |
A |
T |
9: 49,456,523 (GRCm39) |
F475L |
probably damaging |
Het |
Nipal2 |
G |
T |
15: 34,600,178 (GRCm39) |
T213N |
possibly damaging |
Het |
Or52m1 |
T |
A |
7: 102,289,678 (GRCm39) |
L75Q |
probably damaging |
Het |
Or8h8 |
A |
G |
2: 86,753,313 (GRCm39) |
S188P |
probably damaging |
Het |
Pkm |
T |
C |
9: 59,577,882 (GRCm39) |
V233A |
possibly damaging |
Het |
Pros1 |
T |
A |
16: 62,748,540 (GRCm39) |
I671N |
possibly damaging |
Het |
Rasd1 |
T |
C |
11: 59,855,118 (GRCm39) |
I121V |
probably damaging |
Het |
Relch |
T |
C |
1: 105,681,235 (GRCm39) |
S1180P |
possibly damaging |
Het |
Samhd1 |
A |
G |
2: 156,958,270 (GRCm39) |
|
probably null |
Het |
Serpinb9f |
A |
T |
13: 33,509,898 (GRCm39) |
Y30F |
probably benign |
Het |
Slc5a10 |
T |
C |
11: 61,564,107 (GRCm39) |
I543V |
probably benign |
Het |
Stat5a |
A |
G |
11: 100,770,129 (GRCm39) |
I469V |
possibly damaging |
Het |
Sugct |
T |
C |
13: 17,032,459 (GRCm39) |
E431G |
probably benign |
Het |
Tecr |
C |
A |
8: 84,299,880 (GRCm39) |
R133L |
possibly damaging |
Het |
Tiparp |
A |
G |
3: 65,439,002 (GRCm39) |
N106S |
probably benign |
Het |
Triml1 |
T |
C |
8: 43,594,285 (GRCm39) |
S49G |
probably benign |
Het |
Trpm3 |
T |
A |
19: 22,692,640 (GRCm39) |
S244T |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,553,324 (GRCm39) |
D31055G |
probably damaging |
Het |
Vcp |
A |
T |
4: 42,985,242 (GRCm39) |
I369N |
probably damaging |
Het |
Vmn2r110 |
A |
C |
17: 20,804,691 (GRCm39) |
N76K |
probably benign |
Het |
Vmn2r12 |
T |
C |
5: 109,234,074 (GRCm39) |
T713A |
probably benign |
Het |
Vmn2r17 |
A |
T |
5: 109,601,235 (GRCm39) |
K844N |
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 |
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 |
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'- CGCTATTAAGGCAGGAGGC -3'
(R):5'- AACCGTTGGGCCCTGAAGT -3'
Sequencing Primer
(F):5'- GCAGGAGGCTACCAGGG -3'
(R):5'- TTGGGCCCTGAAGTGGCAG -3'
|
Posted On |
2020-07-13 |