Incidental Mutation 'R0742:Casd1'
| ID |
70722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casd1
|
| Ensembl Gene |
ENSMUSG00000015189 |
| Gene Name |
CAS1 domain containing 1 |
| Synonyms |
Cast1 |
| MMRRC Submission |
038923-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.306)
|
| Stock # |
R0742 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
4600911-4643355 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 4635888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015333]
[ENSMUST00000181734]
|
| AlphaFold |
Q7TN73 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000015333
|
| SMART Domains |
Protein: ENSMUSP00000015333
Gene: ENSMUSG00000015189
| 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 null
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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204372
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
T |
A |
6: 58,655,311 (GRCm39) |
D415E |
probably benign |
Het |
| Aff3 |
A |
G |
1: 38,666,189 (GRCm39) |
W12R |
probably damaging |
Het |
| Aldh3b2 |
G |
A |
19: 4,031,034 (GRCm39) |
G428S |
probably damaging |
Het |
| Arhgef10l |
A |
G |
4: 140,264,156 (GRCm39) |
L736P |
probably damaging |
Het |
| Baz2a |
G |
T |
10: 127,949,535 (GRCm39) |
E374* |
probably null |
Het |
| Cct2 |
A |
T |
10: 116,891,151 (GRCm39) |
|
probably null |
Het |
| Cdc42bpg |
G |
A |
19: 6,368,605 (GRCm39) |
|
probably null |
Het |
| Copg2 |
T |
C |
6: 30,840,548 (GRCm39) |
|
probably null |
Het |
| Fbxw15 |
C |
T |
9: 109,384,624 (GRCm39) |
|
probably null |
Het |
| Fyb1 |
A |
G |
15: 6,664,297 (GRCm39) |
D460G |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lyz1 |
A |
T |
10: 117,125,022 (GRCm39) |
|
probably null |
Het |
| Mroh3 |
A |
T |
1: 136,118,718 (GRCm39) |
I533N |
probably damaging |
Het |
| Otogl |
A |
G |
10: 107,702,601 (GRCm39) |
V684A |
possibly damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,457,129 (GRCm39) |
D1302G |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,056,983 (GRCm39) |
I4183N |
probably damaging |
Het |
| Rpe |
C |
T |
1: 66,754,300 (GRCm39) |
T124I |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,185,875 (GRCm39) |
I514T |
probably benign |
Het |
| Scap |
T |
A |
9: 110,210,327 (GRCm39) |
L912Q |
probably damaging |
Het |
| Sec61a2 |
T |
C |
2: 5,881,359 (GRCm39) |
D264G |
probably benign |
Het |
| Slc4a3 |
T |
A |
1: 75,532,725 (GRCm39) |
I995K |
probably damaging |
Het |
| Sptbn2 |
T |
C |
19: 4,769,011 (GRCm39) |
I48T |
possibly damaging |
Het |
| Steap3 |
C |
T |
1: 120,169,313 (GRCm39) |
R328H |
possibly damaging |
Het |
| Thoc2l |
G |
A |
5: 104,670,020 (GRCm39) |
S1514N |
probably benign |
Het |
| Tmprss13 |
T |
C |
9: 45,243,765 (GRCm39) |
F167S |
probably damaging |
Het |
| Ttc3 |
G |
A |
16: 94,260,739 (GRCm39) |
C1408Y |
probably benign |
Het |
| Twf1 |
A |
G |
15: 94,483,411 (GRCm39) |
M99T |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,567,052 (GRCm39) |
N886S |
possibly damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,234,281 (GRCm39) |
T644S |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,794,507 (GRCm39) |
S2306G |
probably benign |
Het |
| Xpo1 |
T |
C |
11: 23,244,682 (GRCm39) |
V1020A |
possibly damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,075,886 (GRCm39) |
N870K |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCACTCGCTTGATTAGACAGTCAAA -3'
(R):5'- TGGCTTTTCACATTCACGAGCACAT -3'
Sequencing Primer
(F):5'- AAGTCTTAAGCTTCTAGCCCAGG -3'
(R):5'- atccgcctgtctctgcc -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation