Incidental Mutation 'IGL03055:Samd4b'
| ID |
453383 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL03055 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28098947-28135616 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28104971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 524
(L524P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040531]
[ENSMUST00000207766]
[ENSMUST00000208126]
[ENSMUST00000208199]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040531
AA Change: L524P
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336
AA Change: L524P
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208126
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208199
AA Change: L524P
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208676
|
| Meta Mutation Damage Score |
0.2587 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900041M22Rik |
T |
A |
11: 117,503,072 (GRCm39) |
|
noncoding transcript |
Het |
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| A430005L14Rik |
T |
A |
4: 154,045,092 (GRCm39) |
S40R |
probably benign |
Het |
| Aire |
A |
G |
10: 77,878,903 (GRCm39) |
L48P |
probably damaging |
Het |
| Alkbh8 |
T |
C |
9: 3,345,882 (GRCm39) |
|
probably benign |
Het |
| Aqp7 |
A |
G |
4: 41,045,326 (GRCm39) |
M18T |
probably benign |
Het |
| Cchcr1 |
T |
A |
17: 35,837,516 (GRCm39) |
M406K |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,817,054 (GRCm39) |
D102E |
probably benign |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Clec16a |
T |
A |
16: 10,559,645 (GRCm39) |
S973T |
probably damaging |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
A |
G |
8: 16,145,515 (GRCm39) |
Y1471H |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,594,697 (GRCm39) |
Y3489C |
probably damaging |
Het |
| Ect2 |
T |
C |
3: 27,191,211 (GRCm39) |
E464G |
probably damaging |
Het |
| Enpp2 |
C |
A |
15: 54,729,481 (GRCm39) |
|
probably null |
Het |
| Erich2 |
G |
T |
2: 70,339,529 (GRCm39) |
C28F |
possibly damaging |
Het |
| Fam135b |
A |
T |
15: 71,493,883 (GRCm39) |
H15Q |
possibly damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Gfral |
T |
A |
9: 76,115,831 (GRCm39) |
T48S |
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,557,836 (GRCm39) |
E293G |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,288,792 (GRCm39) |
N3691K |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nefm |
T |
C |
14: 68,360,358 (GRCm39) |
T371A |
probably damaging |
Het |
| Nkain3 |
C |
A |
4: 20,778,308 (GRCm39) |
C3F |
probably benign |
Het |
| Nol4l |
G |
C |
2: 153,278,190 (GRCm39) |
|
silent |
Het |
| Nprl3 |
C |
A |
11: 32,198,230 (GRCm39) |
|
probably benign |
Het |
| Or52p1 |
A |
T |
7: 104,267,413 (GRCm39) |
I176F |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,523,069 (GRCm39) |
|
probably benign |
Het |
| Pde4d |
A |
G |
13: 110,071,879 (GRCm39) |
K128R |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,375,533 (GRCm39) |
L1329P |
probably damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,647,370 (GRCm39) |
|
probably benign |
Het |
| Rassf5 |
T |
C |
1: 131,172,732 (GRCm39) |
I46V |
probably benign |
Het |
| Rin1 |
C |
T |
19: 5,103,187 (GRCm39) |
T481I |
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,097,902 (GRCm39) |
|
silent |
Het |
| Ssh2 |
C |
T |
11: 77,299,021 (GRCm39) |
Q123* |
probably null |
Het |
| St18 |
G |
T |
1: 6,872,959 (GRCm39) |
L231F |
probably damaging |
Het |
| Stk11 |
A |
C |
10: 79,963,920 (GRCm39) |
D96A |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,108,615 (GRCm39) |
T1918A |
probably damaging |
Het |
| Thrap3 |
G |
A |
4: 126,059,335 (GRCm39) |
|
probably null |
Het |
| Tlr1 |
C |
A |
5: 65,083,939 (GRCm39) |
V213F |
probably benign |
Het |
| Trappc10 |
C |
T |
10: 78,050,520 (GRCm39) |
R307Q |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Wnt6 |
G |
A |
1: 74,822,013 (GRCm39) |
R198H |
probably damaging |
Het |
| Yipf2 |
A |
T |
9: 21,501,019 (GRCm39) |
V98E |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,491,515 (GRCm39) |
T248A |
possibly damaging |
Het |
| Zc3hav1 |
C |
T |
6: 38,293,251 (GRCm39) |
|
probably null |
Het |
| Zfp697 |
T |
G |
3: 98,332,810 (GRCm39) |
C79G |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTCTGTACTGATGATCTGGGTAAG -3'
(R):5'- TCCAAGTTTCCCAAGTCAACTC -3'
Sequencing Primer
(F):5'- TACTGATGATCTGGGTAAGTACAGC -3'
(R):5'- CATCTTGCTCTTCTTGATGACAGGG -3'
|
| Posted On |
2017-02-03 |
Incidental Mutation