Incidental Mutation 'R8033:Casd1'
| ID |
618081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casd1
|
| Ensembl Gene |
ENSMUSG00000015189 |
| Gene Name |
CAS1 domain containing 1 |
| Synonyms |
Cast1 |
| MMRRC Submission |
067470-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
R8033 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
4600911-4643355 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4619773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 173
(I173F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015333]
[ENSMUST00000181734]
|
| AlphaFold |
Q7TN73 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015333
AA Change: I173F
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000015333
Gene: ENSMUSG00000015189
AA Change: I173F
| 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: I125F
| 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
AA Change: I173F
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000137822
Gene: ENSMUSG00000015189
AA Change: I173F
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,927,348 (GRCm39) |
I1335K |
probably damaging |
Het |
| Adgrb2 |
A |
G |
4: 129,912,805 (GRCm39) |
E1277G |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,816,429 (GRCm39) |
T785A |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,981,074 (GRCm39) |
V786A |
probably benign |
Het |
| Armc2 |
A |
G |
10: 41,884,680 (GRCm39) |
I87T |
possibly damaging |
Het |
| Asap2 |
T |
C |
12: 21,274,390 (GRCm39) |
S373P |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,085,628 (GRCm39) |
Y1669H |
probably damaging |
Het |
| Clic3 |
A |
G |
2: 25,348,617 (GRCm39) |
E199G |
probably benign |
Het |
| Cpa4 |
G |
A |
6: 30,590,799 (GRCm39) |
V366I |
probably benign |
Het |
| Creg2 |
T |
C |
1: 39,689,795 (GRCm39) |
Y105C |
probably damaging |
Het |
| Cyp20a1 |
T |
C |
1: 60,411,750 (GRCm39) |
I266T |
probably benign |
Het |
| Dido1 |
T |
C |
2: 180,316,635 (GRCm39) |
D685G |
probably damaging |
Het |
| Dop1b |
C |
G |
16: 93,566,371 (GRCm39) |
R1051G |
probably benign |
Het |
| Fam114a2 |
A |
G |
11: 57,398,333 (GRCm39) |
S202P |
probably damaging |
Het |
| Fance |
G |
T |
17: 28,532,659 (GRCm39) |
|
probably benign |
Het |
| Farsa |
T |
A |
8: 85,594,198 (GRCm39) |
L316Q |
probably benign |
Het |
| Fcrl6 |
T |
C |
1: 172,426,748 (GRCm39) |
D66G |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gh |
A |
T |
11: 106,191,381 (GRCm39) |
D154E |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,756,767 (GRCm39) |
V1160E |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,212,996 (GRCm39) |
T1886A |
probably benign |
Het |
| Lrwd1 |
G |
A |
5: 136,152,079 (GRCm39) |
L633F |
probably damaging |
Het |
| Mmp15 |
A |
T |
8: 96,094,590 (GRCm39) |
N155Y |
probably benign |
Het |
| Msantd5f6 |
T |
C |
4: 73,321,329 (GRCm39) |
N143D |
probably benign |
Het |
| Mtf2 |
T |
G |
5: 108,234,951 (GRCm39) |
C125G |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,547,902 (GRCm39) |
D6130E |
probably benign |
Het |
| Or5m9b |
T |
A |
2: 85,905,219 (GRCm39) |
I45N |
possibly damaging |
Het |
| Orc1 |
T |
A |
4: 108,462,761 (GRCm39) |
Y613N |
probably damaging |
Het |
| Pak1 |
A |
G |
7: 97,535,590 (GRCm39) |
N227S |
probably benign |
Het |
| Pex3 |
G |
A |
10: 13,407,024 (GRCm39) |
Q306* |
probably null |
Het |
| Pld1 |
A |
T |
3: 28,083,359 (GRCm39) |
M160L |
probably benign |
Het |
| Plekhh1 |
G |
A |
12: 79,117,710 (GRCm39) |
R902H |
probably benign |
Het |
| Prp2 |
A |
G |
6: 132,577,391 (GRCm39) |
H226R |
unknown |
Het |
| Rad21 |
T |
G |
15: 51,827,628 (GRCm39) |
T578P |
probably damaging |
Het |
| Sp140 |
G |
A |
1: 85,547,815 (GRCm39) |
V181I |
probably benign |
Het |
| Spen |
A |
G |
4: 141,199,057 (GRCm39) |
V3190A |
probably benign |
Het |
| Spg11 |
A |
C |
2: 121,917,432 (GRCm39) |
C1011W |
probably damaging |
Het |
| Syngr3 |
G |
A |
17: 24,905,579 (GRCm39) |
R132* |
probably null |
Het |
| Tbc1d10c |
A |
G |
19: 4,238,013 (GRCm39) |
F254L |
possibly damaging |
Het |
| Tcea1 |
T |
A |
1: 4,962,141 (GRCm39) |
I176K |
probably damaging |
Het |
| Timm50 |
G |
A |
7: 28,006,258 (GRCm39) |
A281V |
possibly damaging |
Het |
| Tmem144 |
C |
T |
3: 79,732,624 (GRCm39) |
R218K |
probably benign |
Het |
| Upp2 |
A |
G |
2: 58,670,071 (GRCm39) |
Y259C |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,852,479 (GRCm39) |
V827A |
probably benign |
Het |
| Vps41 |
T |
A |
13: 18,994,635 (GRCm39) |
W161R |
possibly damaging |
Het |
| Zfp994 |
A |
T |
17: 22,419,665 (GRCm39) |
I428N |
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 |
|
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 |
|
|
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'- GTTTCACTCTTAAAGACATGCCAAG -3'
(R):5'- ACCGTAGTTTACAGCCATTCTGC -3'
Sequencing Primer
(F):5'- GGGCCTGAATGAACTAAGTAAATTTC -3'
(R):5'- AGCCATTCTGCTGCTGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation