Incidental Mutation 'R6356:Samd4b'
| ID |
513010 |
| 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: 0.524)
|
| Stock # |
R6356 (G1)
|
| Quality Score |
92.0077 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28098947-28135616 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28101018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 687
(I687N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003529]
[ENSMUST00000040531]
[ENSMUST00000207766]
[ENSMUST00000208199]
[ENSMUST00000208126]
|
| 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: I687N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336
AA Change: I687N
| 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: ENSMUST00000208199
AA Change: I687N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208126
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,161,292 (GRCm39) |
S152T |
probably benign |
Het |
| Aass |
A |
G |
6: 23,093,901 (GRCm39) |
V140A |
probably damaging |
Het |
| Add1 |
A |
G |
5: 34,776,740 (GRCm39) |
N32S |
probably null |
Het |
| Agap2 |
T |
C |
10: 126,918,865 (GRCm39) |
S414P |
unknown |
Het |
| Arhgef38 |
A |
G |
3: 132,846,638 (GRCm39) |
F376L |
probably benign |
Het |
| Cd22 |
A |
T |
7: 30,577,127 (GRCm39) |
I60N |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,274,626 (GRCm39) |
D488V |
probably damaging |
Het |
| Cfap251 |
G |
A |
5: 123,392,729 (GRCm39) |
|
probably benign |
Het |
| Cox16 |
T |
G |
12: 81,519,115 (GRCm39) |
D148A |
probably damaging |
Het |
| Dclre1b |
G |
A |
3: 103,715,471 (GRCm39) |
T9I |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,743,686 (GRCm39) |
V1176A |
probably benign |
Het |
| Echdc1 |
A |
C |
10: 29,220,522 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
G |
11: 104,784,533 (GRCm39) |
K2772E |
probably benign |
Het |
| Efnb3 |
G |
A |
11: 69,446,966 (GRCm39) |
A248V |
probably benign |
Het |
| Glud1 |
A |
G |
14: 34,033,173 (GRCm39) |
R107G |
probably benign |
Het |
| Gtf2h4 |
A |
G |
17: 35,980,647 (GRCm39) |
S279P |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,791,402 (GRCm39) |
C2579R |
probably damaging |
Het |
| Igkv15-103 |
A |
G |
6: 68,414,441 (GRCm39) |
|
probably benign |
Het |
| Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
| Krtap5-2 |
T |
C |
7: 141,729,119 (GRCm39) |
|
probably benign |
Het |
| Lcn11 |
G |
T |
2: 25,668,132 (GRCm39) |
G97* |
probably null |
Het |
| Lrrtm3 |
G |
A |
10: 63,765,943 (GRCm39) |
T548M |
probably benign |
Het |
| Map3k2 |
A |
T |
18: 32,345,023 (GRCm39) |
T283S |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,872,493 (GRCm39) |
K2292E |
possibly damaging |
Het |
| Med23 |
G |
T |
10: 24,764,311 (GRCm39) |
C98F |
probably damaging |
Het |
| Morc1 |
T |
A |
16: 48,257,652 (GRCm39) |
F26Y |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,366,416 (GRCm39) |
M2160K |
probably benign |
Het |
| Myocd |
T |
C |
11: 65,109,396 (GRCm39) |
|
probably null |
Het |
| Nup160 |
T |
A |
2: 90,542,279 (GRCm39) |
|
probably null |
Het |
| Obi1 |
A |
G |
14: 104,716,313 (GRCm39) |
S687P |
probably damaging |
Het |
| Olr1 |
A |
T |
6: 129,470,522 (GRCm39) |
L215Q |
probably benign |
Het |
| Or5ak23 |
T |
A |
2: 85,245,031 (GRCm39) |
Q64L |
probably damaging |
Het |
| Or6c216 |
T |
A |
10: 129,678,477 (GRCm39) |
S145C |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,947,440 (GRCm39) |
K1414R |
possibly damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,280,976 (GRCm39) |
V96A |
probably benign |
Het |
| Prim1 |
T |
A |
10: 127,859,704 (GRCm39) |
Y299N |
probably damaging |
Het |
| Rsf1 |
T |
C |
7: 97,311,141 (GRCm39) |
S624P |
probably benign |
Het |
| Sbf2 |
A |
T |
7: 109,971,830 (GRCm39) |
F801L |
probably damaging |
Het |
| St6gal2 |
T |
C |
17: 55,789,014 (GRCm39) |
I16T |
probably damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Trim8 |
T |
G |
19: 46,503,797 (GRCm39) |
S450A |
probably benign |
Het |
| Trp53bp2 |
A |
G |
1: 182,276,562 (GRCm39) |
T848A |
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,783,368 (GRCm39) |
S523G |
possibly damaging |
Het |
| Vmn2r52 |
T |
A |
7: 9,902,926 (GRCm39) |
M501L |
probably benign |
Het |
| Vmn2r68 |
C |
T |
7: 84,883,048 (GRCm39) |
V235M |
possibly damaging |
Het |
| Zfhx3 |
G |
A |
8: 109,673,251 (GRCm39) |
V1434M |
probably damaging |
Het |
| Zmym5 |
A |
T |
14: 57,031,622 (GRCm39) |
N495K |
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 |
|
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 |
|
|
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'- AAGGACAGGTGTCAGCAGTC -3'
(R):5'- TGAACACAGCAACTTGGAGCC -3'
Sequencing Primer
(F):5'- AGTCTGGCCAGTCCTTGC -3'
(R):5'- AGCAACTTGGAGCCATCCTGAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation