Incidental Mutation 'R7801:Samd3'
| ID |
600539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Samd3
|
| Ensembl Gene |
ENSMUSG00000051354 |
| Gene Name |
sterile alpha motif domain containing 3 |
| Synonyms |
LOC268288 |
| MMRRC Submission |
045856-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R7801 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
26105605-26148070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 26139770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 301
(V301F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060716]
[ENSMUST00000164660]
[ENSMUST00000218301]
[ENSMUST00000220219]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060716
AA Change: V301F
PolyPhen 2
Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000057805
Gene: ENSMUSG00000051354
AA Change: V301F
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
1 |
66 |
3e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164660
|
| SMART Domains |
Protein: ENSMUSP00000129054
Gene: ENSMUSG00000051354
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
1 |
66 |
3e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218301
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219738
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220219
AA Change: V301F
PolyPhen 2
Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
A |
G |
1: 89,558,207 (GRCm39) |
Y165C |
probably damaging |
Het |
| Agbl3 |
A |
T |
6: 34,816,300 (GRCm39) |
T742S |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,271,578 (GRCm39) |
T651A |
probably benign |
Het |
| Arsb |
T |
A |
13: 93,998,835 (GRCm39) |
I381N |
probably damaging |
Het |
| Blzf1 |
A |
G |
1: 164,123,478 (GRCm39) |
V283A |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,489,476 (GRCm38) |
|
probably null |
Het |
| Casz1 |
A |
T |
4: 149,022,706 (GRCm39) |
T591S |
probably damaging |
Het |
| Ccne2 |
T |
C |
4: 11,194,079 (GRCm39) |
|
probably null |
Het |
| Chst9 |
T |
C |
18: 15,585,334 (GRCm39) |
T410A |
probably benign |
Het |
| Ciart |
G |
A |
3: 95,788,656 (GRCm39) |
P61L |
probably damaging |
Het |
| Fam234a |
T |
C |
17: 26,437,172 (GRCm39) |
D169G |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,495,260 (GRCm39) |
P4116L |
probably damaging |
Het |
| Fbxo21 |
G |
T |
5: 118,124,189 (GRCm39) |
A166S |
probably damaging |
Het |
| Gbf1 |
A |
G |
19: 46,261,082 (GRCm39) |
I1216V |
probably benign |
Het |
| Gper1 |
G |
A |
5: 139,412,443 (GRCm39) |
A263T |
probably benign |
Het |
| Hdlbp |
G |
T |
1: 93,358,029 (GRCm39) |
|
probably null |
Het |
| Ighg3 |
A |
T |
12: 113,323,436 (GRCm39) |
L280Q |
|
Het |
| Impa1 |
T |
C |
3: 10,386,727 (GRCm39) |
T171A |
probably benign |
Het |
| Ints7 |
T |
A |
1: 191,347,859 (GRCm39) |
Y744N |
possibly damaging |
Het |
| Irgc |
G |
T |
7: 24,131,959 (GRCm39) |
A286D |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,118,190 (GRCm39) |
S2P |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,302,064 (GRCm39) |
W813R |
probably damaging |
Het |
| Mapkbp1 |
T |
G |
2: 119,842,554 (GRCm39) |
H157Q |
probably damaging |
Het |
| Mfsd4b2 |
T |
A |
10: 39,799,777 (GRCm39) |
M42L |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,895,091 (GRCm39) |
|
probably null |
Het |
| Myrfl |
T |
A |
10: 116,684,240 (GRCm39) |
H161L |
probably benign |
Het |
| Or2aj6 |
T |
C |
16: 19,443,373 (GRCm39) |
H159R |
probably damaging |
Het |
| Or7g19 |
A |
C |
9: 18,856,555 (GRCm39) |
S204R |
probably damaging |
Het |
| Phlpp2 |
T |
G |
8: 110,652,474 (GRCm39) |
V606G |
possibly damaging |
Het |
| Psmb5 |
T |
C |
14: 54,854,212 (GRCm39) |
T89A |
probably benign |
Het |
| Ptpn9 |
A |
G |
9: 56,968,297 (GRCm39) |
T546A |
probably benign |
Het |
| Qrfprl |
T |
A |
6: 65,418,201 (GRCm39) |
V123D |
probably damaging |
Het |
| Rabep2 |
A |
G |
7: 126,037,584 (GRCm39) |
M146V |
possibly damaging |
Het |
| Rptn |
G |
A |
3: 93,305,531 (GRCm39) |
E955K |
possibly damaging |
Het |
| Sh2b1 |
C |
A |
7: 126,070,464 (GRCm39) |
C380F |
probably benign |
Het |
| Shank1 |
A |
G |
7: 44,001,022 (GRCm39) |
M914V |
unknown |
Het |
| Sox2 |
G |
A |
3: 34,704,791 (GRCm39) |
R76H |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,771,143 (GRCm39) |
F574S |
probably damaging |
Het |
| Tbx5 |
A |
G |
5: 119,975,064 (GRCm39) |
E29G |
probably benign |
Het |
| Trpm5 |
A |
C |
7: 142,638,978 (GRCm39) |
D264E |
probably damaging |
Het |
| Zfp442 |
T |
C |
2: 150,251,639 (GRCm39) |
S88G |
probably benign |
Het |
| Zfp62 |
T |
A |
11: 49,108,155 (GRCm39) |
F749I |
possibly damaging |
Het |
| Zfp677 |
T |
A |
17: 21,618,277 (GRCm39) |
S445T |
probably damaging |
Het |
| Zfp979 |
A |
C |
4: 147,698,435 (GRCm39) |
N91K |
probably damaging |
Het |
| Zfyve9 |
A |
G |
4: 108,542,192 (GRCm39) |
V209A |
possibly damaging |
Het |
| Zic4 |
G |
T |
9: 91,266,297 (GRCm39) |
A314S |
probably benign |
Het |
|
| Other mutations in Samd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00532:Samd3
|
APN |
10 |
26,127,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00754:Samd3
|
APN |
10 |
26,120,425 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01672:Samd3
|
APN |
10 |
26,146,067 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02211:Samd3
|
APN |
10 |
26,109,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02397:Samd3
|
APN |
10 |
26,109,474 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02755:Samd3
|
APN |
10 |
26,120,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02885:Samd3
|
APN |
10 |
26,147,762 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL03115:Samd3
|
APN |
10 |
26,147,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03157:Samd3
|
APN |
10 |
26,139,740 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03172:Samd3
|
APN |
10 |
26,106,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB006:Samd3
|
UTSW |
10 |
26,127,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB016:Samd3
|
UTSW |
10 |
26,127,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0034:Samd3
|
UTSW |
10 |
26,147,398 (GRCm39) |
splice site |
probably benign |
|
|
R0081:Samd3
|
UTSW |
10 |
26,147,399 (GRCm39) |
splice site |
probably benign |
|
|
R0197:Samd3
|
UTSW |
10 |
26,147,752 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0566:Samd3
|
UTSW |
10 |
26,120,396 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0632:Samd3
|
UTSW |
10 |
26,120,393 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0782:Samd3
|
UTSW |
10 |
26,146,138 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0834:Samd3
|
UTSW |
10 |
26,147,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1106:Samd3
|
UTSW |
10 |
26,147,689 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1844:Samd3
|
UTSW |
10 |
26,127,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Samd3
|
UTSW |
10 |
26,147,754 (GRCm39) |
nonsense |
probably null |
|
|
R1929:Samd3
|
UTSW |
10 |
26,139,884 (GRCm39) |
splice site |
probably benign |
|
|
R2925:Samd3
|
UTSW |
10 |
26,127,785 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5104:Samd3
|
UTSW |
10 |
26,139,686 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5736:Samd3
|
UTSW |
10 |
26,146,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7120:Samd3
|
UTSW |
10 |
26,106,864 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7437:Samd3
|
UTSW |
10 |
26,146,004 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7510:Samd3
|
UTSW |
10 |
26,106,006 (GRCm39) |
missense |
probably benign |
|
|
R7599:Samd3
|
UTSW |
10 |
26,139,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7806:Samd3
|
UTSW |
10 |
26,120,425 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7820:Samd3
|
UTSW |
10 |
26,109,416 (GRCm39) |
splice site |
probably null |
|
|
R7929:Samd3
|
UTSW |
10 |
26,127,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8298:Samd3
|
UTSW |
10 |
26,121,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8979:Samd3
|
UTSW |
10 |
26,120,428 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9381:Samd3
|
UTSW |
10 |
26,147,643 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGAGAGCCAGGTTTTCATG -3'
(R):5'- CTGAGTGGTCACTACTTTAGAGG -3'
Sequencing Primer
(F):5'- GAAGTTTTCAACTGCCCTGAAATGTG -3'
(R):5'- TGGTCACTACTTTAGAGGAAAAGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation