Incidental Mutation 'R9061:Samd4'
| ID |
688993 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Samd4
|
| Ensembl Gene |
ENSMUSG00000021838 |
| Gene Name |
sterile alpha motif domain containing 4 |
| Synonyms |
Smaug, 1700111L17Rik, 1700024G08Rik, 4933436G17Rik, sunk |
| MMRRC Submission |
068887-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.784)
|
| Stock # |
R9061 (G1)
|
| Quality Score |
179.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
47120414-47343274 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47301728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 344
(F344S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022386]
[ENSMUST00000100672]
[ENSMUST00000125113]
[ENSMUST00000125688]
[ENSMUST00000137543]
[ENSMUST00000228404]
|
| AlphaFold |
Q8CBY1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022386
AA Change: F344S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022386
Gene: ENSMUSG00000021838
AA Change: F344S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
305 |
N/A |
INTRINSIC |
|
SAM
|
320 |
383 |
1.4e-7 |
SMART |
|
low complexity region
|
445 |
463 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100672
AA Change: F256S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098237
Gene: ENSMUSG00000021838
AA Change: F256S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
95 |
N/A |
INTRINSIC |
|
SAM
|
232 |
295 |
2.75e-6 |
SMART |
|
low complexity region
|
357 |
375 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125113
AA Change: F243S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122833
Gene: ENSMUSG00000021838
AA Change: F243S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
191 |
204 |
N/A |
INTRINSIC |
|
SAM
|
219 |
282 |
1.4e-7 |
SMART |
|
low complexity region
|
344 |
362 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125688
|
| SMART Domains |
Protein: ENSMUSP00000115569
Gene: ENSMUSG00000021838
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137543
AA Change: F256S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114621
Gene: ENSMUSG00000021838
AA Change: F256S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
95 |
N/A |
INTRINSIC |
|
SAM
|
232 |
295 |
2.75e-6 |
SMART |
|
low complexity region
|
357 |
375 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228404
AA Change: F155S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit leaness, myopathy and altered glucose metabolism. Mice homozygous for a spontaneous mutation exhibit kyphosis, abnormal gait, and decreased cortical bone thickness. [provided by MGI curators]
|
| Allele List at MGI |
ll alleles(1) : Gene trapped(1) |
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930518I15Rik |
A |
G |
2: 156,699,133 (GRCm39) |
M1T |
probably null |
Het |
| Abca13 |
A |
G |
11: 9,227,847 (GRCm39) |
E630G |
probably benign |
Het |
| Abcf2 |
T |
A |
5: 24,778,504 (GRCm39) |
H218L |
possibly damaging |
Het |
| Abo |
A |
T |
2: 26,733,395 (GRCm39) |
M268K |
probably benign |
Het |
| Ankrd33 |
G |
T |
15: 101,014,029 (GRCm39) |
|
probably benign |
Het |
| Apc |
G |
C |
18: 34,446,251 (GRCm39) |
R1049T |
probably damaging |
Het |
| Atg16l2 |
T |
C |
7: 100,941,338 (GRCm39) |
K412E |
probably damaging |
Het |
| Cachd1 |
G |
A |
4: 100,809,202 (GRCm39) |
|
probably null |
Het |
| Ccdc152 |
T |
G |
15: 3,330,643 (GRCm39) |
K11Q |
probably damaging |
Het |
| Ccdc38 |
T |
A |
10: 93,401,735 (GRCm39) |
W232R |
probably damaging |
Het |
| Cluh |
C |
T |
11: 74,551,192 (GRCm39) |
P347L |
possibly damaging |
Het |
| Cntn3 |
A |
G |
6: 102,314,288 (GRCm39) |
L142P |
probably damaging |
Het |
| Ctnnd2 |
T |
A |
15: 30,806,884 (GRCm39) |
M601K |
probably damaging |
Het |
| D930048N14Rik |
G |
A |
11: 51,545,734 (GRCm39) |
D209N |
unknown |
Het |
| Dcaf6 |
A |
T |
1: 165,164,332 (GRCm39) |
N814K |
probably damaging |
Het |
| Dhx8 |
A |
T |
11: 101,632,406 (GRCm39) |
D455V |
possibly damaging |
Het |
| Fcna |
A |
C |
2: 25,514,956 (GRCm39) |
L301W |
possibly damaging |
Het |
| Garin1b |
C |
T |
6: 29,323,902 (GRCm39) |
T209I |
probably benign |
Het |
| Gdf9 |
T |
G |
11: 53,324,269 (GRCm39) |
C13G |
probably damaging |
Het |
| Hells |
T |
A |
19: 38,933,858 (GRCm39) |
N226K |
probably damaging |
Het |
| Hes6 |
A |
G |
1: 91,340,061 (GRCm39) |
S132P |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,564,153 (GRCm39) |
|
probably benign |
Het |
| Ighv16-1 |
A |
T |
12: 114,032,504 (GRCm39) |
Y99* |
probably null |
Het |
| Kirrel2 |
T |
C |
7: 30,150,305 (GRCm39) |
I508V |
probably benign |
Het |
| Klhl38 |
T |
A |
15: 58,186,022 (GRCm39) |
I236F |
probably damaging |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Lamc1 |
A |
T |
1: 153,126,870 (GRCm39) |
C425* |
probably null |
Het |
| Letm1 |
A |
G |
5: 33,918,213 (GRCm39) |
F311L |
probably damaging |
Het |
| Lypd11 |
A |
T |
7: 24,422,173 (GRCm39) |
I192N |
possibly damaging |
Het |
| Mapk8ip2 |
T |
C |
15: 89,342,016 (GRCm39) |
V409A |
possibly damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,391,501 (GRCm39) |
C318Y |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,393,692 (GRCm39) |
Y1141C |
|
Het |
| Ndufv2 |
T |
A |
17: 66,390,475 (GRCm39) |
D165V |
probably damaging |
Het |
| Nrde2 |
T |
C |
12: 100,110,123 (GRCm39) |
K303E |
probably benign |
Het |
| Nup205 |
T |
A |
6: 35,196,808 (GRCm39) |
|
probably benign |
Het |
| Or1j12 |
A |
G |
2: 36,342,897 (GRCm39) |
Q100R |
probably damaging |
Het |
| Or2f2 |
A |
T |
6: 42,767,141 (GRCm39) |
H56L |
probably damaging |
Het |
| Or5b118 |
A |
G |
19: 13,448,523 (GRCm39) |
N21S |
probably damaging |
Het |
| Otof |
C |
T |
5: 30,546,001 (GRCm39) |
V451I |
possibly damaging |
Het |
| Pask |
G |
A |
1: 93,253,191 (GRCm39) |
Q399* |
probably null |
Het |
| Pbk |
T |
A |
14: 66,049,439 (GRCm39) |
F39I |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,374,753 (GRCm39) |
K1794R |
possibly damaging |
Het |
| Pibf1 |
T |
C |
14: 99,424,069 (GRCm39) |
|
probably null |
Het |
| Ppip5k2 |
G |
A |
1: 97,645,187 (GRCm39) |
T1089I |
probably damaging |
Het |
| Ppp1cb |
T |
A |
5: 32,635,492 (GRCm39) |
F45L |
possibly damaging |
Het |
| Pramel21 |
T |
G |
4: 143,342,741 (GRCm39) |
S283A |
possibly damaging |
Het |
| Slc2a13 |
C |
T |
15: 91,234,333 (GRCm39) |
M334I |
possibly damaging |
Het |
| Slc37a1 |
C |
T |
17: 31,556,365 (GRCm39) |
A363V |
probably damaging |
Het |
| Slc8a3 |
T |
A |
12: 81,263,540 (GRCm39) |
I616F |
probably damaging |
Het |
| Srcin1 |
A |
G |
11: 97,427,206 (GRCm39) |
L257P |
probably damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,173,880 (GRCm39) |
F945L |
probably damaging |
Het |
| Thbs4 |
A |
T |
13: 92,911,187 (GRCm39) |
|
probably null |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Trim62 |
G |
A |
4: 128,802,963 (GRCm39) |
V338M |
probably damaging |
Het |
| Ttll9 |
C |
T |
2: 152,818,113 (GRCm39) |
H20Y |
possibly damaging |
Het |
| Uevld |
A |
T |
7: 46,587,806 (GRCm39) |
I298N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,462,653 (GRCm39) |
E842G |
probably damaging |
Het |
| Zdbf2 |
T |
G |
1: 63,346,296 (GRCm39) |
S1558R |
|
Het |
|
| Other mutations in Samd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00557:Samd4
|
APN |
14 |
47,290,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01413:Samd4
|
APN |
14 |
47,254,249 (GRCm39) |
missense |
probably benign |
0.01 |
|
supermodel
|
UTSW |
14 |
47,253,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
B6584:Samd4
|
UTSW |
14 |
47,253,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1Funyon:Samd4
|
UTSW |
14 |
47,254,135 (GRCm39) |
missense |
probably benign |
|
|
G4846:Samd4
|
UTSW |
14 |
47,253,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0096:Samd4
|
UTSW |
14 |
47,301,754 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0122:Samd4
|
UTSW |
14 |
47,254,017 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0562:Samd4
|
UTSW |
14 |
47,314,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1247:Samd4
|
UTSW |
14 |
47,325,215 (GRCm39) |
small insertion |
probably benign |
|
|
R1247:Samd4
|
UTSW |
14 |
47,301,785 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R1771:Samd4
|
UTSW |
14 |
47,326,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Samd4
|
UTSW |
14 |
47,311,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Samd4
|
UTSW |
14 |
47,311,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2346:Samd4
|
UTSW |
14 |
47,122,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4155:Samd4
|
UTSW |
14 |
47,290,403 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4498:Samd4
|
UTSW |
14 |
47,333,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4510:Samd4
|
UTSW |
14 |
47,315,042 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4511:Samd4
|
UTSW |
14 |
47,315,042 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4658:Samd4
|
UTSW |
14 |
47,301,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4871:Samd4
|
UTSW |
14 |
47,303,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4991:Samd4
|
UTSW |
14 |
47,311,467 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5432:Samd4
|
UTSW |
14 |
47,311,519 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5687:Samd4
|
UTSW |
14 |
47,254,022 (GRCm39) |
missense |
probably benign |
|
|
R6035:Samd4
|
UTSW |
14 |
47,325,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Samd4
|
UTSW |
14 |
47,325,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6254:Samd4
|
UTSW |
14 |
47,254,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6366:Samd4
|
UTSW |
14 |
47,311,607 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6376:Samd4
|
UTSW |
14 |
47,290,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6944:Samd4
|
UTSW |
14 |
47,254,092 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7035:Samd4
|
UTSW |
14 |
47,326,620 (GRCm39) |
synonymous |
silent |
|
|
R7148:Samd4
|
UTSW |
14 |
47,254,140 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7467:Samd4
|
UTSW |
14 |
47,325,313 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7999:Samd4
|
UTSW |
14 |
47,301,704 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8301:Samd4
|
UTSW |
14 |
47,254,135 (GRCm39) |
missense |
probably benign |
|
|
R8306:Samd4
|
UTSW |
14 |
47,122,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8351:Samd4
|
UTSW |
14 |
47,338,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8451:Samd4
|
UTSW |
14 |
47,338,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9103:Samd4
|
UTSW |
14 |
47,254,066 (GRCm39) |
missense |
probably benign |
0.04 |
|
X0018:Samd4
|
UTSW |
14 |
47,254,153 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0022:Samd4
|
UTSW |
14 |
47,311,474 (GRCm39) |
missense |
probably benign |
0.45 |
|
Z0001:Samd4
|
UTSW |
14 |
47,253,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCCATCAGTTGCTACCTAAG -3'
(R):5'- CTAGTTTACTCACCGTGGGAC -3'
Sequencing Primer
(F):5'- GCCATCAGTTGCTACCTAAGTTAAG -3'
(R):5'- AGGCAGCTCCTAGATCCG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation