Incidental Mutation 'R1234:Samd4b'
| ID |
152385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Samd4b
|
| Ensembl Gene |
ENSMUSG00000109336 |
| Gene Name |
sterile alpha motif domain containing 4B |
| Synonyms |
|
| MMRRC Submission |
039302-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.524)
|
| Stock # |
R1234 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28098947-28135616 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 28113435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 177
(G177R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040531]
[ENSMUST00000207766]
[ENSMUST00000208199]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040531
AA Change: G177R
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336
AA Change: G177R
| 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: G177R
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208199
AA Change: G177R
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208676
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccn1 |
A |
G |
3: 145,355,594 (GRCm39) |
|
probably benign |
Het |
| Cd300e |
T |
A |
11: 114,946,192 (GRCm39) |
I90F |
probably damaging |
Het |
| Dclk1 |
T |
C |
3: 55,397,298 (GRCm39) |
I528T |
probably damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,091,356 (GRCm39) |
N645S |
possibly damaging |
Het |
| Efhb |
A |
T |
17: 53,758,615 (GRCm39) |
Y340* |
probably null |
Het |
| Fhod1 |
T |
C |
8: 106,063,795 (GRCm39) |
|
probably benign |
Het |
| Hk2 |
G |
A |
6: 82,737,229 (GRCm39) |
H28Y |
possibly damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,629,405 (GRCm39) |
R951* |
probably null |
Het |
| Insyn1 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
9: 58,406,715 (GRCm39) |
|
probably benign |
Het |
| Mapkapk2 |
G |
A |
1: 130,983,513 (GRCm39) |
R334* |
probably null |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Psg18 |
A |
T |
7: 18,083,115 (GRCm39) |
S347T |
probably damaging |
Het |
| Ptk6 |
C |
T |
2: 180,844,233 (GRCm39) |
R22Q |
possibly damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Ssrp1 |
T |
C |
2: 84,872,607 (GRCm39) |
F415S |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,872,193 (GRCm39) |
L1198P |
probably damaging |
Het |
| Tcf23 |
T |
C |
5: 31,127,566 (GRCm39) |
Y123H |
probably damaging |
Het |
| Vars2 |
T |
C |
17: 35,978,038 (GRCm39) |
N43S |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,653,307 (GRCm39) |
E524V |
possibly damaging |
Het |
| Xrcc1 |
T |
C |
7: 24,267,270 (GRCm39) |
V373A |
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 |
|
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'- TGATGGGACTTGCCAAGCACAG -3'
(R):5'- TTCATTGAGGAGAGCCGCCAAC -3'
Sequencing Primer
(F):5'- TTGCCAAGCACAGAGCAAG -3'
(R):5'- GAGAGCCGCCAACTCCTC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation