Incidental Mutation 'IGL02503:Sdad1'
| ID |
296186 |
| 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: 0.968)
|
| Stock # |
IGL02503
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
92431869-92457883 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 92449661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031364]
[ENSMUST00000201143]
[ENSMUST00000202870]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031364
|
| SMART Domains |
Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
| 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: ENSMUST00000157998
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201084
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201143
|
| SMART Domains |
Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
| 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: ENSMUST00000201532
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202680
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202870
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
T |
14: 56,008,962 (GRCm39) |
W822R |
probably damaging |
Het |
| Ago4 |
A |
T |
4: 126,390,598 (GRCm39) |
Y807* |
probably null |
Het |
| Alkbh8 |
G |
A |
9: 3,347,852 (GRCm39) |
G215D |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,426,545 (GRCm39) |
|
probably null |
Het |
| Cspg4 |
G |
A |
9: 56,804,687 (GRCm39) |
V1833M |
probably damaging |
Het |
| Cyp4f17 |
T |
C |
17: 32,743,940 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,909,621 (GRCm39) |
Y1411* |
probably null |
Het |
| Dmrtc1b |
T |
A |
X: 101,758,366 (GRCm39) |
S199T |
possibly damaging |
Het |
| Elk4 |
A |
G |
1: 131,942,277 (GRCm39) |
N50D |
probably damaging |
Het |
| Filip1l |
T |
A |
16: 57,391,938 (GRCm39) |
V604E |
probably benign |
Het |
| Fmo3 |
A |
T |
1: 162,796,433 (GRCm39) |
H46Q |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,990,348 (GRCm39) |
Y1116F |
unknown |
Het |
| Fpr-rs3 |
T |
A |
17: 20,844,817 (GRCm39) |
N108I |
probably damaging |
Het |
| Glmn |
A |
T |
5: 107,710,644 (GRCm39) |
M316K |
probably damaging |
Het |
| Gm5591 |
C |
A |
7: 38,219,433 (GRCm39) |
R480I |
probably damaging |
Het |
| Gm8122 |
G |
T |
14: 43,092,645 (GRCm39) |
R39S |
unknown |
Het |
| Gprasp1 |
T |
A |
X: 134,703,279 (GRCm39) |
Y1157* |
probably null |
Het |
| H2bc21 |
A |
G |
3: 96,128,539 (GRCm39) |
T20A |
probably benign |
Het |
| Hsf1 |
T |
C |
15: 76,382,870 (GRCm39) |
L370P |
probably benign |
Het |
| Iqsec1 |
T |
A |
6: 90,645,770 (GRCm39) |
I809F |
probably damaging |
Het |
| Itsn1 |
G |
T |
16: 91,686,092 (GRCm39) |
M54I |
possibly damaging |
Het |
| Klra2 |
T |
C |
6: 131,207,057 (GRCm39) |
N184S |
probably benign |
Het |
| Lifr |
T |
A |
15: 7,215,104 (GRCm39) |
V737E |
probably damaging |
Het |
| Lrpprc |
T |
C |
17: 85,033,767 (GRCm39) |
T1037A |
probably benign |
Het |
| Map3k13 |
A |
T |
16: 21,727,454 (GRCm39) |
I439F |
possibly damaging |
Het |
| Megf8 |
T |
C |
7: 25,062,988 (GRCm39) |
V2448A |
possibly damaging |
Het |
| Mthfd1l |
T |
A |
10: 4,033,824 (GRCm39) |
V737D |
probably damaging |
Het |
| Mtm1 |
A |
G |
X: 70,343,276 (GRCm39) |
T386A |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,421,404 (GRCm39) |
V4298A |
probably benign |
Het |
| Or10ag2 |
T |
G |
2: 87,248,636 (GRCm39) |
F81L |
probably benign |
Het |
| Or5w18 |
A |
T |
2: 87,632,864 (GRCm39) |
I44F |
probably benign |
Het |
| Or8k21 |
C |
T |
2: 86,144,983 (GRCm39) |
G216R |
possibly damaging |
Het |
| Plch1 |
A |
G |
3: 63,605,285 (GRCm39) |
S1531P |
probably damaging |
Het |
| Poc1b |
T |
A |
10: 98,980,210 (GRCm39) |
|
probably benign |
Het |
| Rictor |
T |
A |
15: 6,815,924 (GRCm39) |
N1065K |
probably benign |
Het |
| Rpsa |
A |
G |
9: 119,957,659 (GRCm39) |
E35G |
possibly damaging |
Het |
| Scfd1 |
T |
A |
12: 51,469,704 (GRCm39) |
D416E |
possibly damaging |
Het |
| Skor1 |
A |
G |
9: 63,053,397 (GRCm39) |
S191P |
probably damaging |
Het |
| Slc28a2 |
T |
C |
2: 122,288,693 (GRCm39) |
F600L |
probably benign |
Het |
| Tmem229b-ps |
A |
G |
10: 53,351,250 (GRCm39) |
|
noncoding transcript |
Het |
| Top2b |
A |
G |
14: 16,407,163 (GRCm38) |
M678V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,617,107 (GRCm39) |
N8092S |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,572,033 (GRCm39) |
V26287I |
probably damaging |
Het |
| Tulp4 |
T |
A |
17: 6,263,666 (GRCm39) |
I345N |
probably damaging |
Het |
| U2surp |
C |
T |
9: 95,384,622 (GRCm39) |
V21I |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 38,018,564 (GRCm39) |
T859A |
possibly damaging |
Het |
| Ubr5 |
T |
C |
15: 38,018,558 (GRCm39) |
K861E |
probably damaging |
Het |
| Unc13d |
A |
G |
11: 115,959,628 (GRCm39) |
V617A |
possibly damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,151,341 (GRCm39) |
Y91C |
probably damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,816,385 (GRCm39) |
I657F |
probably benign |
Het |
| Wwc2 |
T |
C |
8: 48,302,418 (GRCm39) |
R931G |
unknown |
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 |
|
IGL01635:Sdad1
|
APN |
5 |
92,445,019 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02166:Sdad1
|
APN |
5 |
92,439,621 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
2015-04-16 |
Incidental Mutation