Incidental Mutation 'IGL00979:Samd4b'
ID |
27939 |
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: 0.500)
|
Stock # |
IGL00979
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
28098947-28135616 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 28113638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 109
(L109Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146984
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040531]
[ENSMUST00000207766]
[ENSMUST00000208199]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040531
AA Change: L109Q
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000040486 Gene: ENSMUSG00000109336 AA Change: L109Q
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 damaging
Transcript: ENSMUST00000207766
AA Change: L109Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208199
AA Change: L109Q
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208676
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427I04Rik |
A |
T |
4: 123,754,338 (GRCm39) |
K84M |
probably damaging |
Het |
A4gnt |
T |
A |
9: 99,502,489 (GRCm39) |
Y216* |
probably null |
Het |
Abcb1b |
A |
G |
5: 8,875,293 (GRCm39) |
|
probably benign |
Het |
Ankrd50 |
G |
A |
3: 38,506,563 (GRCm39) |
|
probably benign |
Het |
Catsperb |
A |
G |
12: 101,381,584 (GRCm39) |
T89A |
probably benign |
Het |
Ccdc15 |
C |
T |
9: 37,227,786 (GRCm39) |
S236N |
probably benign |
Het |
Cd34 |
A |
C |
1: 194,631,816 (GRCm39) |
T151P |
possibly damaging |
Het |
Col28a1 |
A |
T |
6: 8,014,810 (GRCm39) |
V865E |
probably damaging |
Het |
Csf2rb |
T |
A |
15: 78,232,304 (GRCm39) |
V537E |
probably damaging |
Het |
Cux2 |
A |
G |
5: 122,011,777 (GRCm39) |
F553L |
probably damaging |
Het |
Dolk |
A |
T |
2: 30,174,743 (GRCm39) |
L434Q |
probably damaging |
Het |
Dsg2 |
C |
A |
18: 20,715,824 (GRCm39) |
D255E |
probably damaging |
Het |
Endov |
T |
C |
11: 119,391,444 (GRCm39) |
V144A |
probably damaging |
Het |
Grik2 |
T |
C |
10: 49,232,034 (GRCm39) |
N499D |
probably damaging |
Het |
Hephl1 |
G |
T |
9: 14,978,341 (GRCm39) |
T855K |
probably benign |
Het |
Hif1a |
A |
G |
12: 73,988,784 (GRCm39) |
D557G |
probably damaging |
Het |
Idh1 |
G |
A |
1: 65,210,308 (GRCm39) |
T75I |
probably damaging |
Het |
Ighv1-37 |
A |
G |
12: 114,860,070 (GRCm39) |
S47P |
probably benign |
Het |
Irx4 |
A |
G |
13: 73,416,341 (GRCm39) |
|
probably benign |
Het |
Itpr1 |
C |
T |
6: 108,448,081 (GRCm39) |
A1871V |
probably damaging |
Het |
Klkb1 |
A |
G |
8: 45,747,105 (GRCm39) |
|
probably benign |
Het |
Lrrc8e |
T |
C |
8: 4,285,080 (GRCm39) |
L435P |
probably damaging |
Het |
Megf11 |
T |
A |
9: 64,416,009 (GRCm39) |
Y73N |
probably damaging |
Het |
Nfe2 |
T |
C |
15: 103,157,607 (GRCm39) |
D128G |
probably damaging |
Het |
Or13a22 |
A |
G |
7: 140,072,614 (GRCm39) |
E21G |
probably benign |
Het |
Or4k51 |
T |
A |
2: 111,584,771 (GRCm39) |
M59K |
probably damaging |
Het |
Pak6 |
C |
A |
2: 118,526,963 (GRCm39) |
L653I |
probably damaging |
Het |
Pde4dip |
T |
A |
3: 97,655,074 (GRCm39) |
|
probably benign |
Het |
Pds5a |
A |
G |
5: 65,789,066 (GRCm39) |
V831A |
probably benign |
Het |
Prc1 |
G |
T |
7: 79,957,444 (GRCm39) |
|
probably null |
Het |
Ptprs |
C |
T |
17: 56,765,243 (GRCm39) |
G14S |
probably damaging |
Het |
Pygb |
A |
G |
2: 150,661,833 (GRCm39) |
K520E |
probably benign |
Het |
Rimbp2 |
A |
G |
5: 128,883,505 (GRCm39) |
S92P |
probably benign |
Het |
Saxo4 |
T |
C |
19: 10,451,863 (GRCm39) |
*428W |
probably null |
Het |
Scn8a |
A |
T |
15: 100,853,287 (GRCm39) |
|
probably benign |
Het |
Sdc3 |
A |
G |
4: 130,545,991 (GRCm39) |
I23V |
unknown |
Het |
Sec61a2 |
A |
G |
2: 5,876,831 (GRCm39) |
Y350H |
possibly damaging |
Het |
Slc4a3 |
A |
T |
1: 75,530,891 (GRCm39) |
Q759L |
probably damaging |
Het |
Speg |
C |
T |
1: 75,387,378 (GRCm39) |
P1378L |
probably damaging |
Het |
Spta1 |
T |
G |
1: 174,035,956 (GRCm39) |
Y1087* |
probably null |
Het |
Tenm4 |
A |
G |
7: 96,378,598 (GRCm39) |
E401G |
probably damaging |
Het |
Tom1 |
C |
A |
8: 75,781,331 (GRCm39) |
|
probably benign |
Het |
Ttc3 |
T |
A |
16: 94,257,577 (GRCm39) |
V1273D |
probably damaging |
Het |
Vmn2r106 |
G |
T |
17: 20,497,837 (GRCm39) |
D467E |
possibly damaging |
Het |
Washc4 |
A |
T |
10: 83,386,747 (GRCm39) |
T124S |
probably benign |
Het |
Zfp790 |
A |
G |
7: 29,529,034 (GRCm39) |
E573G |
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 |
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 |
2013-04-17 |