Incidental Mutation 'IGL01635:Sdad1'
| ID |
92965 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sdad1
|
| Ensembl Gene |
ENSMUSG00000029415 |
| Gene Name |
SDA1 domain containing 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
IGL01635
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
92431869-92457883 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92445019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 315
(M315T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144446
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031364]
[ENSMUST00000201143]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031364
AA Change: M316T
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: M316T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUC130_3NT
|
62 |
113 |
3.3e-28 |
PFAM |
|
low complexity region
|
116 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
278 |
N/A |
INTRINSIC |
|
Pfam:SDA1
|
409 |
532 |
2.4e-41 |
PFAM |
|
Pfam:SDA1
|
519 |
685 |
2.8e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201084
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201143
AA Change: M315T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: M315T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUC130_3NT
|
62 |
113 |
5.3e-24 |
PFAM |
|
low complexity region
|
116 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
277 |
N/A |
INTRINSIC |
|
Pfam:SDA1
|
408 |
531 |
3.9e-37 |
PFAM |
|
Pfam:SDA1
|
518 |
684 |
4.6e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202680
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202903
|
| Meta Mutation Damage Score |
0.4888 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
G |
16: 8,431,910 (GRCm39) |
I396V |
probably benign |
Het |
| Bag2 |
T |
A |
1: 33,786,013 (GRCm39) |
N103I |
possibly damaging |
Het |
| Cfap95 |
T |
C |
19: 23,536,379 (GRCm39) |
Y176C |
probably damaging |
Het |
| Chd1 |
T |
C |
17: 17,598,858 (GRCm39) |
S107P |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,252,076 (GRCm39) |
|
probably benign |
Het |
| Cytip |
T |
C |
2: 58,038,243 (GRCm39) |
E106G |
probably damaging |
Het |
| Dcp1b |
T |
A |
6: 119,183,498 (GRCm39) |
I195N |
probably damaging |
Het |
| Ddhd1 |
C |
A |
14: 45,867,037 (GRCm39) |
V322F |
probably null |
Het |
| Esrrg |
A |
T |
1: 187,930,797 (GRCm39) |
D296V |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,035,427 (GRCm39) |
K1867R |
probably benign |
Het |
| Gm10717 |
C |
A |
9: 3,025,511 (GRCm39) |
A32D |
probably damaging |
Het |
| Gm10717 |
C |
A |
9: 3,025,506 (GRCm39) |
F30L |
possibly damaging |
Het |
| Gstt1 |
G |
T |
10: 75,629,951 (GRCm39) |
T54K |
probably damaging |
Het |
| Ighmbp2 |
C |
T |
19: 3,317,265 (GRCm39) |
V536I |
possibly damaging |
Het |
| Mphosph8 |
A |
T |
14: 56,910,003 (GRCm39) |
R119W |
probably damaging |
Het |
| Negr1 |
A |
G |
3: 156,267,929 (GRCm39) |
D33G |
probably benign |
Het |
| Or2l13b |
A |
G |
16: 19,348,845 (GRCm39) |
V275A |
probably benign |
Het |
| Or7d10 |
A |
T |
9: 19,831,780 (GRCm39) |
I92L |
probably damaging |
Het |
| Plbd2 |
T |
C |
5: 120,637,114 (GRCm39) |
D116G |
probably damaging |
Het |
| Pold1 |
A |
T |
7: 44,185,401 (GRCm39) |
V733E |
probably damaging |
Het |
| Prorsd1 |
T |
A |
11: 29,463,467 (GRCm39) |
K98N |
probably benign |
Het |
| Rasal2 |
G |
T |
1: 156,991,394 (GRCm39) |
L611I |
probably damaging |
Het |
| Rffl |
G |
A |
11: 82,703,378 (GRCm39) |
R147C |
probably benign |
Het |
| Rpl27rt |
A |
T |
18: 34,870,795 (GRCm39) |
M110L |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,045,763 (GRCm39) |
Y861* |
probably null |
Het |
| Six4 |
G |
A |
12: 73,155,971 (GRCm39) |
A324V |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,816,992 (GRCm39) |
D135G |
probably benign |
Het |
| Tada3 |
T |
C |
6: 113,352,973 (GRCm39) |
H12R |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,810,238 (GRCm39) |
D116G |
probably damaging |
Het |
|
| Other mutations in Sdad1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00786:Sdad1
|
APN |
5 |
92,451,632 (GRCm39) |
splice site |
probably null |
|
|
IGL01355:Sdad1
|
APN |
5 |
92,450,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02166:Sdad1
|
APN |
5 |
92,439,621 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02503:Sdad1
|
APN |
5 |
92,449,661 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02739:Sdad1
|
APN |
5 |
92,437,931 (GRCm39) |
missense |
probably benign |
0.43 |
|
PIT4468001:Sdad1
|
UTSW |
5 |
92,439,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0583:Sdad1
|
UTSW |
5 |
92,452,923 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1169:Sdad1
|
UTSW |
5 |
92,446,092 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1496:Sdad1
|
UTSW |
5 |
92,457,682 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1844:Sdad1
|
UTSW |
5 |
92,453,155 (GRCm39) |
nonsense |
probably null |
|
|
R1848:Sdad1
|
UTSW |
5 |
92,440,510 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2419:Sdad1
|
UTSW |
5 |
92,453,677 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2497:Sdad1
|
UTSW |
5 |
92,447,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2509:Sdad1
|
UTSW |
5 |
92,453,684 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4043:Sdad1
|
UTSW |
5 |
92,450,553 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4384:Sdad1
|
UTSW |
5 |
92,446,116 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4477:Sdad1
|
UTSW |
5 |
92,445,019 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4478:Sdad1
|
UTSW |
5 |
92,445,019 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4734:Sdad1
|
UTSW |
5 |
92,452,836 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4749:Sdad1
|
UTSW |
5 |
92,452,836 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5135:Sdad1
|
UTSW |
5 |
92,451,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5288:Sdad1
|
UTSW |
5 |
92,434,684 (GRCm39) |
makesense |
probably null |
|
|
R6331:Sdad1
|
UTSW |
5 |
92,451,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7038:Sdad1
|
UTSW |
5 |
92,446,049 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7099:Sdad1
|
UTSW |
5 |
92,441,832 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7420:Sdad1
|
UTSW |
5 |
92,453,596 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7425:Sdad1
|
UTSW |
5 |
92,447,980 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7714:Sdad1
|
UTSW |
5 |
92,450,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8048:Sdad1
|
UTSW |
5 |
92,447,948 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8198:Sdad1
|
UTSW |
5 |
92,439,811 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8347:Sdad1
|
UTSW |
5 |
92,446,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8693:Sdad1
|
UTSW |
5 |
92,452,857 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8696:Sdad1
|
UTSW |
5 |
92,437,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8746:Sdad1
|
UTSW |
5 |
92,437,784 (GRCm39) |
missense |
probably benign |
|
|
R9004:Sdad1
|
UTSW |
5 |
92,439,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9166:Sdad1
|
UTSW |
5 |
92,446,080 (GRCm39) |
nonsense |
probably null |
|
|
R9732:Sdad1
|
UTSW |
5 |
92,438,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation