Incidental Mutation 'IGL00743:Samd4b'
| ID |
13908 |
| 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 # |
IGL00743
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28098947-28135616 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 28101302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 108
(I108S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003529]
[ENSMUST00000040531]
[ENSMUST00000207766]
[ENSMUST00000208126]
[ENSMUST00000208199]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003529
|
| SMART Domains |
Protein: ENSMUSP00000003529
Gene: ENSMUSG00000003437
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paf1
|
28 |
441 |
2.3e-154 |
PFAM |
|
low complexity region
|
456 |
470 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
535 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040531
AA Change: I661S
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336
AA Change: I661S
| 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 |
noncoding transcript
Transcript: ENSMUST00000122857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145339
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146913
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207766
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208126
AA Change: I108S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208199
AA Change: I661S
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss1 |
T |
C |
2: 150,461,606 (GRCm39) |
E659G |
probably benign |
Het |
| Adgrg6 |
A |
C |
10: 14,411,703 (GRCm39) |
|
probably benign |
Het |
| Als2cl |
A |
G |
9: 110,718,227 (GRCm39) |
K323E |
possibly damaging |
Het |
| Atm |
A |
C |
9: 53,424,416 (GRCm39) |
S628R |
probably benign |
Het |
| Baz2a |
T |
C |
10: 127,950,395 (GRCm39) |
V443A |
probably benign |
Het |
| Bclaf3 |
T |
A |
X: 158,341,357 (GRCm39) |
F545Y |
probably benign |
Het |
| Calcr |
T |
C |
6: 3,717,196 (GRCm39) |
Y88C |
probably damaging |
Het |
| Ccdc178 |
C |
T |
18: 22,278,501 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
A |
G |
1: 104,875,153 (GRCm39) |
T312A |
probably benign |
Het |
| Chrnd |
G |
A |
1: 87,120,649 (GRCm39) |
W91* |
probably null |
Het |
| Cntln |
T |
C |
4: 84,897,652 (GRCm39) |
F413S |
probably benign |
Het |
| Ctsq |
A |
T |
13: 61,183,998 (GRCm39) |
I308N |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,501,736 (GRCm39) |
V258D |
probably damaging |
Het |
| Dnajc13 |
G |
A |
9: 104,039,979 (GRCm39) |
P2044S |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hps6 |
A |
T |
19: 45,992,099 (GRCm39) |
D12V |
probably damaging |
Het |
| Hpse |
T |
C |
5: 100,846,865 (GRCm39) |
D188G |
probably benign |
Het |
| Id2 |
C |
A |
12: 25,145,355 (GRCm39) |
E123* |
probably null |
Het |
| Ints10 |
C |
T |
8: 69,271,985 (GRCm39) |
P562L |
probably damaging |
Het |
| Kctd10 |
G |
A |
5: 114,505,410 (GRCm39) |
R195C |
probably damaging |
Het |
| Kel |
A |
C |
6: 41,665,509 (GRCm39) |
L537R |
probably damaging |
Het |
| Kif19a |
T |
C |
11: 114,675,599 (GRCm39) |
V357A |
probably damaging |
Het |
| Lrrtm3 |
A |
T |
10: 63,924,988 (GRCm39) |
S60T |
probably damaging |
Het |
| Myof |
C |
A |
19: 37,949,382 (GRCm39) |
R608L |
probably benign |
Het |
| Naa35 |
A |
T |
13: 59,778,485 (GRCm39) |
I669F |
probably benign |
Het |
| Or8g2b |
A |
T |
9: 39,751,002 (GRCm39) |
I91F |
probably benign |
Het |
| Or8g53 |
A |
G |
9: 39,683,407 (GRCm39) |
S230P |
possibly damaging |
Het |
| Pclo |
G |
T |
5: 14,728,035 (GRCm39) |
|
probably benign |
Het |
| Pik3c3 |
C |
T |
18: 30,407,417 (GRCm39) |
S55F |
probably damaging |
Het |
| Prdm6 |
T |
G |
18: 53,673,300 (GRCm39) |
D153E |
possibly damaging |
Het |
| Rnf183 |
T |
C |
4: 62,346,610 (GRCm39) |
T63A |
probably benign |
Het |
| Slc9a7 |
T |
C |
X: 19,972,260 (GRCm39) |
D708G |
possibly damaging |
Het |
| Stim2 |
A |
G |
5: 54,210,835 (GRCm39) |
D90G |
probably benign |
Het |
| Tmem52b |
A |
G |
6: 129,493,678 (GRCm39) |
D97G |
probably damaging |
Het |
| Tnfsf15 |
T |
C |
4: 63,652,518 (GRCm39) |
R98G |
probably benign |
Het |
| Uxs1 |
C |
T |
1: 43,796,173 (GRCm39) |
V310I |
probably benign |
Het |
| Vcan |
A |
C |
13: 89,873,425 (GRCm39) |
M143R |
probably damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,504 (GRCm39) |
F792S |
probably damaging |
Het |
| Zfp455 |
T |
C |
13: 67,355,962 (GRCm39) |
I345T |
probably benign |
Het |
| Zfp938 |
A |
T |
10: 82,062,317 (GRCm39) |
M101K |
probably benign |
Het |
| Zkscan2 |
A |
G |
7: 123,079,195 (GRCm39) |
S921P |
probably damaging |
Het |
|
| Other mutations in Samd4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00979:Samd4b
|
APN |
7 |
28,113,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01336:Samd4b
|
APN |
7 |
28,113,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2012-12-06 |
Incidental Mutation