Incidental Mutation 'R7983:Casd1'
| ID |
651311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casd1
|
| Ensembl Gene |
ENSMUSG00000015189 |
| Gene Name |
CAS1 domain containing 1 |
| Synonyms |
Cast1 |
| MMRRC Submission |
046024-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.306)
|
| Stock # |
R7983 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
4600911-4643355 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 4624472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 422
(E422*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015333]
[ENSMUST00000181734]
|
| AlphaFold |
Q7TN73 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000015333
AA Change: E422*
|
| SMART Domains |
Protein: ENSMUSP00000015333
Gene: ENSMUSG00000015189
AA Change: E422*
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
95% (39/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc7a |
T |
C |
8: 129,607,559 (GRCm39) |
T1007A |
possibly damaging |
Het |
| Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
G |
2: 132,105,430 (GRCm39) |
|
probably null |
Het |
| Cfap100 |
G |
A |
6: 90,392,687 (GRCm39) |
T141I |
|
Het |
| Chd7 |
T |
A |
4: 8,752,628 (GRCm39) |
M375K |
unknown |
Het |
| Chd7 |
T |
A |
4: 8,844,609 (GRCm39) |
S1573T |
possibly damaging |
Het |
| Cplane1 |
T |
A |
15: 8,251,299 (GRCm39) |
V1857E |
probably benign |
Het |
| Crybb2 |
T |
C |
5: 113,209,946 (GRCm39) |
E139G |
probably benign |
Het |
| Csn2 |
T |
C |
5: 87,842,356 (GRCm39) |
T224A |
probably benign |
Het |
| Csnk2b |
T |
C |
17: 35,335,304 (GRCm39) |
H231R |
possibly damaging |
Het |
| Cthrc1 |
A |
G |
15: 38,940,550 (GRCm39) |
D51G |
probably benign |
Het |
| Cyp2a5 |
A |
T |
7: 26,539,866 (GRCm39) |
T305S |
probably benign |
Het |
| Cyp4a29 |
A |
T |
4: 115,108,099 (GRCm39) |
D307V |
probably damaging |
Het |
| Dhrs7b |
T |
C |
11: 60,743,287 (GRCm39) |
V188A |
possibly damaging |
Het |
| Dna2 |
A |
G |
10: 62,791,173 (GRCm39) |
D224G |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,282,584 (GRCm39) |
L2906M |
probably damaging |
Het |
| Eif4g3 |
A |
T |
4: 137,878,904 (GRCm39) |
E545D |
probably benign |
Het |
| Foxq1 |
T |
C |
13: 31,743,972 (GRCm39) |
F358S |
possibly damaging |
Het |
| Galnt16 |
C |
T |
12: 80,648,598 (GRCm39) |
H557Y |
probably benign |
Het |
| Kcnb2 |
T |
C |
1: 15,383,004 (GRCm39) |
M110T |
probably damaging |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,830,409 (GRCm39) |
I144V |
probably benign |
Het |
| Napsa |
T |
A |
7: 44,234,751 (GRCm39) |
N295K |
possibly damaging |
Het |
| Nup50l |
C |
A |
6: 96,142,888 (GRCm39) |
G52V |
probably damaging |
Het |
| Or2ag20 |
T |
C |
7: 106,464,958 (GRCm39) |
V257A |
probably benign |
Het |
| Or5k1b |
G |
A |
16: 58,581,377 (GRCm39) |
S54F |
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,615,164 (GRCm39) |
D778G |
probably damaging |
Het |
| Pnlip |
G |
A |
19: 58,668,491 (GRCm39) |
V361I |
probably benign |
Het |
| Pou4f2 |
G |
T |
8: 79,161,568 (GRCm39) |
A345E |
probably benign |
Het |
| Prr11 |
C |
T |
11: 86,982,637 (GRCm39) |
D365N |
possibly damaging |
Het |
| Ptprq |
G |
T |
10: 107,444,272 (GRCm39) |
S1444* |
probably null |
Het |
| R3hdm4 |
A |
T |
10: 79,748,557 (GRCm39) |
V129E |
probably damaging |
Het |
| Retnlg |
T |
C |
16: 48,693,261 (GRCm39) |
S13P |
probably damaging |
Het |
| Rgmb |
T |
C |
17: 16,041,189 (GRCm39) |
T133A |
possibly damaging |
Het |
| Rin3 |
A |
C |
12: 102,335,418 (GRCm39) |
H443P |
probably benign |
Het |
| Rnf152 |
T |
C |
1: 105,212,089 (GRCm39) |
D156G |
probably benign |
Het |
| Sfmbt1 |
A |
G |
14: 30,519,673 (GRCm39) |
|
probably null |
Het |
| Slc25a46 |
G |
A |
18: 31,716,483 (GRCm39) |
R340C |
probably damaging |
Het |
| Sp4 |
A |
T |
12: 118,264,967 (GRCm39) |
M1K |
probably null |
Het |
| Ss18l2 |
T |
C |
9: 121,541,675 (GRCm39) |
I64T |
probably damaging |
Het |
| Sult2a4 |
G |
A |
7: 13,649,152 (GRCm39) |
S219F |
probably damaging |
Het |
| Tnip3 |
A |
C |
6: 65,515,630 (GRCm39) |
D25A |
probably damaging |
Het |
| Trac |
A |
G |
14: 54,458,214 (GRCm39) |
T79A |
|
Het |
| Vmn2r36 |
A |
G |
7: 7,905,415 (GRCm39) |
L16P |
probably damaging |
Het |
| Zswim2 |
A |
G |
2: 83,753,911 (GRCm39) |
|
probably null |
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 |
|
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'- AAACCATGTACTGATTTGGAGAGTGG -3'
(R):5'- CTCAAGCAGGCGAAATAACG -3'
Sequencing Primer
(F):5'- ACTGATTTGGAGAGTGGCGAGG -3'
(R):5'- GAGTCTACTAAGCAGAGGAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation