Incidental Mutation 'R8235:Samd4b'
| ID |
637302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Samd4b
|
| Ensembl Gene |
ENSMUSG00000109336 |
| Gene Name |
sterile alpha motif domain containing 4B |
| Synonyms |
|
| MMRRC Submission |
067667-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.500)
|
| Stock # |
R8235 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28098947-28135616 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 28106031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 396
(V396I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040531]
[ENSMUST00000207766]
[ENSMUST00000208126]
[ENSMUST00000208199]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040531
AA Change: V396I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336
AA Change: V396I
| 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 |
probably benign
Transcript: ENSMUST00000208199
AA Change: V396I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.8%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,212,077 (GRCm39) |
Q279H |
probably damaging |
Het |
| Abhd13 |
G |
A |
8: 10,037,394 (GRCm39) |
|
probably benign |
Het |
| Atp8b3 |
T |
C |
10: 80,365,650 (GRCm39) |
N368S |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,967,458 (GRCm39) |
M1089T |
probably benign |
Het |
| Cbll1 |
C |
T |
12: 31,541,570 (GRCm39) |
D103N |
probably benign |
Het |
| Ccnd2 |
T |
C |
6: 127,107,305 (GRCm39) |
D288G |
probably benign |
Het |
| Chek1 |
T |
A |
9: 36,630,870 (GRCm39) |
R181S |
probably benign |
Het |
| Chrna7 |
T |
C |
7: 62,861,972 (GRCm39) |
R27G |
probably damaging |
Het |
| Crybb1 |
A |
G |
5: 112,405,266 (GRCm39) |
K6R |
probably damaging |
Het |
| Ehbp1 |
G |
A |
11: 22,189,153 (GRCm39) |
T83M |
probably damaging |
Het |
| Entpd7 |
G |
A |
19: 43,705,984 (GRCm39) |
E269K |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,460,576 (GRCm39) |
V729A |
possibly damaging |
Het |
| Farsa |
A |
G |
8: 85,595,545 (GRCm39) |
H480R |
probably damaging |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Hpn |
T |
C |
7: 30,802,208 (GRCm39) |
T228A |
possibly damaging |
Het |
| Lyst |
T |
A |
13: 13,935,323 (GRCm39) |
H3597Q |
possibly damaging |
Het |
| Map3k4 |
A |
T |
17: 12,458,968 (GRCm39) |
|
probably null |
Het |
| Msto1 |
A |
T |
3: 88,820,228 (GRCm39) |
L89Q |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,436,110 (GRCm39) |
E2185G |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,083,824 (GRCm39) |
E1534G |
probably damaging |
Het |
| Nfkbia |
T |
C |
12: 55,537,608 (GRCm39) |
Y195C |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,641,603 (GRCm39) |
M469K |
probably benign |
Het |
| Nwd1 |
TCATCC |
TCATCCATCC |
8: 73,438,314 (GRCm39) |
|
probably null |
Het |
| Or8i2 |
T |
C |
2: 86,852,226 (GRCm39) |
I221V |
probably benign |
Het |
| Potefam3e |
C |
A |
8: 19,799,476 (GRCm39) |
T308N |
probably benign |
Het |
| Prdm2 |
G |
A |
4: 142,859,037 (GRCm39) |
Q1418* |
probably null |
Het |
| Ptk2 |
T |
C |
15: 73,215,140 (GRCm39) |
T13A |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,465,037 (GRCm39) |
N1292K |
possibly damaging |
Het |
| Ptprq |
A |
C |
10: 107,418,402 (GRCm39) |
V1658G |
probably damaging |
Het |
| Ptprq |
A |
T |
10: 107,541,351 (GRCm39) |
F392I |
probably benign |
Het |
| Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,325,461 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,029,952 (GRCm39) |
L906Q |
probably damaging |
Het |
| Sytl1 |
T |
C |
4: 132,988,257 (GRCm39) |
D33G |
probably damaging |
Het |
| Trmt10c |
T |
C |
16: 55,854,939 (GRCm39) |
N232S |
probably benign |
Het |
| Trpc4 |
G |
A |
3: 54,209,669 (GRCm39) |
C678Y |
probably benign |
Het |
| Tulp3 |
T |
C |
6: 128,304,640 (GRCm39) |
N205D |
probably benign |
Het |
| Ufl1 |
T |
C |
4: 25,278,656 (GRCm39) |
I100V |
probably benign |
Het |
| Unc45b |
A |
G |
11: 82,810,681 (GRCm39) |
I314V |
probably benign |
Het |
| Vegfa |
A |
T |
17: 46,342,236 (GRCm39) |
L194Q |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,834,678 (GRCm39) |
F1669S |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,863,063 (GRCm39) |
H3026Q |
probably benign |
Het |
| Zfp184 |
T |
G |
13: 22,144,053 (GRCm39) |
I586M |
probably 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 |
|
|
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 |
|
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'- CCCATCACCCGTGTAAACTG -3'
(R):5'- TGGCCTCTGCTAGAACCTTG -3'
Sequencing Primer
(F):5'- ATCACCCGTGTAAACTGGCTGG -3'
(R):5'- TCTGCTAGAACCTTGCGTAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation