Incidental Mutation 'IGL01895:Samd4b'
| ID |
179382 |
| 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 # |
IGL01895
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28098947-28135616 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 28101334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003529]
[ENSMUST00000040531]
[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 null
Transcript: ENSMUST00000040531
|
| SMART Domains |
Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336
| 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 null
Transcript: ENSMUST00000040531
|
| SMART Domains |
Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336
| 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 null
Transcript: ENSMUST00000208126
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208199
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
T |
7: 45,678,482 (GRCm39) |
I56N |
possibly damaging |
Het |
| Akr1c13 |
A |
T |
13: 4,255,372 (GRCm39) |
E321V |
possibly damaging |
Het |
| Atp8b3 |
A |
T |
10: 80,357,662 (GRCm39) |
V1119D |
possibly damaging |
Het |
| Cacna1e |
G |
T |
1: 154,319,646 (GRCm39) |
F1351L |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,427,274 (GRCm39) |
W585R |
probably damaging |
Het |
| Ccdc113 |
C |
T |
8: 96,263,086 (GRCm39) |
|
probably benign |
Het |
| Ccer1 |
A |
T |
10: 97,529,912 (GRCm39) |
I192F |
unknown |
Het |
| Chd8 |
T |
C |
14: 52,436,551 (GRCm39) |
N90S |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,453,333 (GRCm39) |
C463* |
probably null |
Het |
| Cplane1 |
T |
A |
15: 8,258,591 (GRCm39) |
V2279E |
possibly damaging |
Het |
| Cyp2c65 |
T |
A |
19: 39,060,676 (GRCm39) |
C179S |
possibly damaging |
Het |
| Dennd4b |
A |
G |
3: 90,182,874 (GRCm39) |
Q35R |
probably benign |
Het |
| Enpep |
T |
C |
3: 129,063,983 (GRCm39) |
E928G |
possibly damaging |
Het |
| Fem1c |
T |
C |
18: 46,638,629 (GRCm39) |
T458A |
probably benign |
Het |
| Fezf2 |
A |
T |
14: 12,342,498 (GRCm38) |
*456R |
probably null |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Iqcm |
T |
G |
8: 76,615,188 (GRCm39) |
L423R |
probably damaging |
Het |
| Kcnc4 |
C |
A |
3: 107,355,534 (GRCm39) |
V305L |
probably benign |
Het |
| Kif1a |
G |
A |
1: 92,953,455 (GRCm39) |
T1337I |
possibly damaging |
Het |
| Lpxn |
A |
G |
19: 12,810,450 (GRCm39) |
D298G |
probably damaging |
Het |
| Lypd8 |
A |
G |
11: 58,281,046 (GRCm39) |
T203A |
possibly damaging |
Het |
| Mrps28 |
C |
T |
3: 8,965,119 (GRCm39) |
V107M |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,774,324 (GRCm39) |
E586G |
possibly damaging |
Het |
| Pdzk1 |
C |
T |
3: 96,776,417 (GRCm39) |
A459V |
possibly damaging |
Het |
| Rbpj |
A |
G |
5: 53,808,728 (GRCm39) |
D285G |
probably damaging |
Het |
| Rimbp3 |
T |
C |
16: 17,029,300 (GRCm39) |
L908P |
probably damaging |
Het |
| Slc28a2b |
A |
C |
2: 122,355,572 (GRCm39) |
Y588S |
possibly damaging |
Het |
| Stau2 |
C |
T |
1: 16,416,161 (GRCm39) |
G401S |
probably damaging |
Het |
| Trpa1 |
A |
T |
1: 14,957,867 (GRCm39) |
I697K |
possibly damaging |
Het |
| Ttc17 |
A |
C |
2: 94,205,491 (GRCm39) |
V285G |
possibly damaging |
Het |
| Unc5b |
A |
G |
10: 60,602,864 (GRCm39) |
F845S |
probably damaging |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,245 (GRCm39) |
Q266L |
probably benign |
Het |
| Vmn2r106 |
T |
C |
17: 20,499,227 (GRCm39) |
N228S |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,882,836 (GRCm39) |
F919S |
possibly damaging |
Het |
| Zbtb38 |
C |
T |
9: 96,570,461 (GRCm39) |
V208I |
probably benign |
Het |
| Zfp990 |
A |
T |
4: 145,263,427 (GRCm39) |
T142S |
probably damaging |
Het |
| Zfp990 |
C |
A |
4: 145,263,428 (GRCm39) |
T142N |
probably damaging |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation