Incidental Mutation 'IGL01336:Samd4b'
| ID |
74626 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Samd4b
|
| Ensembl Gene |
ENSMUSG00000109336 |
| Gene Name |
sterile alpha motif domain containing 4B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.524)
|
| Stock # |
IGL01336
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28098947-28135616 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 28113388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 192
(D192E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040531]
[ENSMUST00000207766]
[ENSMUST00000208199]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040531
AA Change: D192E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336
AA Change: D192E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
81 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
290 |
N/A |
INTRINSIC |
|
SAM
|
296 |
359 |
1.02e-9 |
SMART |
|
low complexity region
|
406 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207766
AA Change: D192E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208199
AA Change: D192E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208676
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
G |
T |
11: 100,386,736 (GRCm39) |
L599I |
probably benign |
Het |
| Adcyap1 |
A |
G |
17: 93,511,392 (GRCm39) |
D122G |
probably benign |
Het |
| Ahr |
A |
G |
12: 35,553,839 (GRCm39) |
V760A |
probably benign |
Het |
| Ankrd7 |
T |
C |
6: 18,868,277 (GRCm39) |
V133A |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,988,984 (GRCm39) |
V2256A |
probably damaging |
Het |
| Cblb |
A |
G |
16: 52,006,592 (GRCm39) |
K765E |
probably benign |
Het |
| Clmp |
A |
G |
9: 40,693,906 (GRCm39) |
*374W |
probably null |
Het |
| Ddc |
A |
G |
11: 11,796,630 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,852,576 (GRCm39) |
Y1878C |
probably damaging |
Het |
| Ei24 |
A |
G |
9: 36,697,777 (GRCm39) |
|
probably null |
Het |
| Ikbke |
A |
G |
1: 131,201,493 (GRCm39) |
M118T |
probably damaging |
Het |
| Il6st |
T |
C |
13: 112,616,773 (GRCm39) |
S107P |
possibly damaging |
Het |
| Map2k6 |
A |
G |
11: 110,387,237 (GRCm39) |
Y203C |
probably damaging |
Het |
| Mettl27 |
C |
T |
5: 134,964,734 (GRCm39) |
|
probably benign |
Het |
| Mrps14 |
G |
A |
1: 160,024,565 (GRCm39) |
W32* |
probably null |
Het |
| Naaa |
A |
C |
5: 92,412,992 (GRCm39) |
M208R |
probably benign |
Het |
| Nat2 |
A |
G |
8: 67,954,193 (GRCm39) |
Y101C |
probably damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,896,443 (GRCm39) |
S449G |
probably benign |
Het |
| Or4e5 |
A |
G |
14: 52,728,205 (GRCm39) |
I72T |
probably damaging |
Het |
| Or6z7 |
T |
C |
7: 6,483,997 (GRCm39) |
I53V |
probably benign |
Het |
| Phykpl |
G |
A |
11: 51,490,283 (GRCm39) |
|
probably benign |
Het |
| Psma5-ps |
T |
C |
10: 85,150,028 (GRCm39) |
|
noncoding transcript |
Het |
| Rasgrf1 |
A |
T |
9: 89,873,583 (GRCm39) |
M631L |
probably benign |
Het |
| Rgma |
G |
A |
7: 73,059,066 (GRCm39) |
V57M |
possibly damaging |
Het |
| Sesn2 |
T |
C |
4: 132,226,678 (GRCm39) |
T139A |
probably benign |
Het |
| Slc30a6 |
A |
G |
17: 74,715,834 (GRCm39) |
|
probably benign |
Het |
| Spata31f1e |
T |
A |
4: 42,793,784 (GRCm39) |
Q116L |
possibly damaging |
Het |
| Stra8 |
T |
C |
6: 34,910,123 (GRCm39) |
Y182H |
possibly damaging |
Het |
| Trim31 |
C |
A |
17: 37,220,269 (GRCm39) |
A395E |
probably damaging |
Het |
| Trp53bp2 |
G |
T |
1: 182,259,148 (GRCm39) |
R67L |
probably damaging |
Het |
| Trpa1 |
A |
C |
1: 14,957,104 (GRCm39) |
|
probably benign |
Het |
| Wdr91 |
G |
A |
6: 34,886,478 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Samd4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00743:Samd4b
|
APN |
7 |
28,101,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00979:Samd4b
|
APN |
7 |
28,113,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01432:Samd4b
|
APN |
7 |
28,113,491 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL01895:Samd4b
|
APN |
7 |
28,101,334 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02827:Samd4b
|
APN |
7 |
28,113,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03077:Samd4b
|
APN |
7 |
28,105,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03055:Samd4b
|
UTSW |
7 |
28,104,971 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0367:Samd4b
|
UTSW |
7 |
28,122,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Samd4b
|
UTSW |
7 |
28,103,402 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0440:Samd4b
|
UTSW |
7 |
28,107,585 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0488:Samd4b
|
UTSW |
7 |
28,113,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0798:Samd4b
|
UTSW |
7 |
28,101,048 (GRCm39) |
splice site |
probably benign |
|
|
R1233:Samd4b
|
UTSW |
7 |
28,113,435 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1234:Samd4b
|
UTSW |
7 |
28,113,435 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1481:Samd4b
|
UTSW |
7 |
28,113,435 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1643:Samd4b
|
UTSW |
7 |
28,123,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1675:Samd4b
|
UTSW |
7 |
28,113,435 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1768:Samd4b
|
UTSW |
7 |
28,113,317 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1801:Samd4b
|
UTSW |
7 |
28,106,756 (GRCm39) |
splice site |
probably null |
|
|
R2831:Samd4b
|
UTSW |
7 |
28,103,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4505:Samd4b
|
UTSW |
7 |
28,106,925 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4507:Samd4b
|
UTSW |
7 |
28,106,925 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4731:Samd4b
|
UTSW |
7 |
28,106,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5811:Samd4b
|
UTSW |
7 |
28,107,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6063:Samd4b
|
UTSW |
7 |
28,123,056 (GRCm39) |
start codon destroyed |
possibly damaging |
0.71 |
|
R6114:Samd4b
|
UTSW |
7 |
28,222,217 (GRCm39) |
splice site |
probably null |
|
|
R6356:Samd4b
|
UTSW |
7 |
28,101,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6467:Samd4b
|
UTSW |
7 |
28,101,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7055:Samd4b
|
UTSW |
7 |
28,103,458 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7191:Samd4b
|
UTSW |
7 |
28,113,686 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7371:Samd4b
|
UTSW |
7 |
28,122,926 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7445:Samd4b
|
UTSW |
7 |
28,105,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7543:Samd4b
|
UTSW |
7 |
28,113,711 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7663:Samd4b
|
UTSW |
7 |
28,122,925 (GRCm39) |
nonsense |
probably null |
|
|
R7746:Samd4b
|
UTSW |
7 |
28,103,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7991:Samd4b
|
UTSW |
7 |
28,103,458 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8235:Samd4b
|
UTSW |
7 |
28,106,031 (GRCm39) |
missense |
probably benign |
|
|
R9423:Samd4b
|
UTSW |
7 |
28,113,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9615:Samd4b
|
UTSW |
7 |
28,106,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation