Incidental Mutation 'R7035:Samd4'
| ID |
557116 |
| 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 |
045136-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.784)
|
| Stock # |
R7035 (G1)
|
| Quality Score |
213.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
47120414-47343274 bp(+) (GRCm39) |
| Type of Mutation |
synonymous |
| DNA Base Change (assembly) |
G to A
at 47326620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022386]
[ENSMUST00000100672]
[ENSMUST00000125113]
[ENSMUST00000125688]
[ENSMUST00000137543]
[ENSMUST00000228404]
|
| AlphaFold |
Q8CBY1 |
| Predicted Effect |
silent
Transcript: ENSMUST00000022386
|
| SMART Domains |
Protein: ENSMUSP00000022386
Gene: ENSMUSG00000021838
| 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 |
silent
Transcript: ENSMUST00000100672
|
| SMART Domains |
Protein: ENSMUSP00000098237
Gene: ENSMUSG00000021838
| 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 |
silent
Transcript: ENSMUST00000125113
|
| SMART Domains |
Protein: ENSMUSP00000122833
Gene: ENSMUSG00000021838
| 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 |
silent
Transcript: ENSMUST00000125688
|
| SMART Domains |
Protein: ENSMUSP00000115569
Gene: ENSMUSG00000021838
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000137543
|
| SMART Domains |
Protein: ENSMUSP00000114621
Gene: ENSMUSG00000021838
| 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 |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000228404
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (70/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110032F04Rik |
T |
A |
3: 68,777,272 (GRCm39) |
F78I |
probably benign |
Het |
| 1700102P08Rik |
A |
T |
9: 108,272,510 (GRCm39) |
D140V |
possibly damaging |
Het |
| 6430548M08Rik |
A |
T |
8: 120,879,225 (GRCm39) |
S208C |
probably damaging |
Het |
| Abcd4 |
G |
T |
12: 84,662,123 (GRCm39) |
T41K |
probably damaging |
Het |
| Acaca |
C |
T |
11: 84,129,769 (GRCm39) |
R375C |
probably damaging |
Het |
| Acad11 |
T |
A |
9: 103,990,694 (GRCm39) |
V433D |
probably damaging |
Het |
| Adal |
T |
A |
2: 120,985,942 (GRCm39) |
C226S |
probably benign |
Het |
| Aldh3b2 |
A |
T |
19: 4,028,142 (GRCm39) |
M95L |
probably benign |
Het |
| Ano4 |
A |
G |
10: 88,790,573 (GRCm39) |
F842S |
probably damaging |
Het |
| Ap5s1 |
T |
C |
2: 131,054,732 (GRCm39) |
F181S |
probably damaging |
Het |
| Apba1 |
G |
A |
19: 23,894,931 (GRCm39) |
D456N |
possibly damaging |
Het |
| Armh4 |
T |
A |
14: 50,010,507 (GRCm39) |
H400L |
possibly damaging |
Het |
| Atp6v0a1 |
A |
C |
11: 100,918,183 (GRCm39) |
Q199H |
probably damaging |
Het |
| Atp8a1 |
C |
G |
5: 67,938,373 (GRCm39) |
G161A |
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,949,530 (GRCm39) |
Q61* |
probably null |
Het |
| Cacna2d1 |
T |
A |
5: 16,451,670 (GRCm39) |
I178K |
probably damaging |
Het |
| Catsperb |
A |
C |
12: 101,381,593 (GRCm39) |
T92P |
probably damaging |
Het |
| Ccdc175 |
A |
G |
12: 72,202,419 (GRCm39) |
I292T |
probably benign |
Het |
| Cep290 |
T |
A |
10: 100,334,933 (GRCm39) |
S318T |
probably benign |
Het |
| Cfb |
T |
A |
17: 35,079,007 (GRCm39) |
Y826F |
possibly damaging |
Het |
| Cntn1 |
C |
A |
15: 92,212,392 (GRCm39) |
D851E |
probably benign |
Het |
| Coq6 |
A |
G |
12: 84,415,415 (GRCm39) |
D146G |
probably damaging |
Het |
| Crem |
G |
A |
18: 3,327,503 (GRCm39) |
T12I |
probably damaging |
Het |
| Dennd4c |
G |
A |
4: 86,730,574 (GRCm39) |
V824I |
probably damaging |
Het |
| Dnase2b |
C |
T |
3: 146,288,096 (GRCm39) |
C333Y |
probably damaging |
Het |
| Dop1a |
T |
A |
9: 86,406,355 (GRCm39) |
F365I |
possibly damaging |
Het |
| Dysf |
A |
T |
6: 84,163,374 (GRCm39) |
I1570F |
probably benign |
Het |
| Eml1 |
T |
A |
12: 108,475,493 (GRCm39) |
C275S |
probably damaging |
Het |
| Fam135b |
A |
C |
15: 71,334,102 (GRCm39) |
S1031A |
possibly damaging |
Het |
| Gga2 |
T |
C |
7: 121,588,939 (GRCm39) |
D596G |
probably damaging |
Het |
| Gin1 |
A |
C |
1: 97,720,100 (GRCm39) |
Y365S |
possibly damaging |
Het |
| Gipr |
T |
A |
7: 18,896,809 (GRCm39) |
I154F |
probably damaging |
Het |
| Gm5478 |
A |
T |
15: 101,553,632 (GRCm39) |
I284N |
possibly damaging |
Het |
| Gnat1 |
A |
T |
9: 107,553,827 (GRCm39) |
|
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,650,569 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
A |
17: 68,088,044 (GRCm39) |
I1554N |
|
Het |
| Mycbp2 |
T |
A |
14: 103,412,417 (GRCm39) |
T2519S |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,797,352 (GRCm39) |
V1604M |
possibly damaging |
Het |
| Mypop |
C |
T |
7: 18,725,922 (GRCm39) |
|
probably benign |
Het |
| Nol6 |
A |
T |
4: 41,118,479 (GRCm39) |
V774E |
probably benign |
Het |
| Nol8 |
T |
C |
13: 49,814,678 (GRCm39) |
V262A |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,113,965 (GRCm39) |
V637D |
probably damaging |
Het |
| Or1e16 |
T |
C |
11: 73,286,544 (GRCm39) |
I101M |
probably benign |
Het |
| Or4f52 |
A |
G |
2: 111,061,784 (GRCm39) |
M118T |
probably damaging |
Het |
| Or5p52 |
T |
C |
7: 107,502,140 (GRCm39) |
V72A |
probably benign |
Het |
| Pcdhgb8 |
A |
T |
18: 37,896,201 (GRCm39) |
I424F |
possibly damaging |
Het |
| Phf7 |
A |
C |
14: 30,961,183 (GRCm39) |
W231G |
probably damaging |
Het |
| Plagl1 |
A |
G |
10: 13,003,977 (GRCm39) |
|
probably benign |
Het |
| Plat |
A |
T |
8: 23,262,327 (GRCm39) |
D117V |
probably benign |
Het |
| Prkag2 |
T |
C |
5: 25,152,564 (GRCm39) |
Y180C |
probably damaging |
Het |
| Prpf8 |
T |
C |
11: 75,395,654 (GRCm39) |
I1927T |
possibly damaging |
Het |
| Ptchd1 |
T |
A |
X: 154,357,708 (GRCm39) |
Y499F |
probably damaging |
Het |
| Rad17 |
T |
A |
13: 100,764,133 (GRCm39) |
D446V |
possibly damaging |
Het |
| Ralgapa2 |
G |
T |
2: 146,353,777 (GRCm39) |
Q15K |
probably damaging |
Het |
| Ret |
A |
G |
6: 118,140,247 (GRCm39) |
Y982H |
probably damaging |
Het |
| Rnf145 |
T |
A |
11: 44,452,583 (GRCm39) |
S521T |
probably damaging |
Het |
| Sardh |
T |
C |
2: 27,120,854 (GRCm39) |
D390G |
probably damaging |
Het |
| Saxo1 |
T |
C |
4: 86,363,359 (GRCm39) |
T375A |
probably damaging |
Het |
| Scly |
A |
G |
1: 91,236,125 (GRCm39) |
T126A |
probably damaging |
Het |
| Slc6a16 |
T |
A |
7: 44,910,251 (GRCm39) |
V307D |
probably damaging |
Het |
| Sned1 |
T |
C |
1: 93,189,852 (GRCm39) |
C320R |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,426,147 (GRCm39) |
|
probably null |
Het |
| Sycp2l |
C |
T |
13: 41,310,973 (GRCm39) |
T645I |
unknown |
Het |
| Tpmt |
T |
C |
13: 47,193,584 (GRCm39) |
K72E |
probably damaging |
Het |
| Tsbp1 |
C |
T |
17: 34,679,305 (GRCm39) |
|
probably benign |
Het |
| Ube2q2l |
G |
A |
6: 136,378,347 (GRCm39) |
T161M |
possibly damaging |
Het |
| Vmn1r51 |
A |
T |
6: 90,106,207 (GRCm39) |
H41L |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,003,415 (GRCm39) |
I2900N |
probably damaging |
Het |
| Zfp663 |
A |
G |
2: 165,195,023 (GRCm39) |
S399P |
probably benign |
Het |
| Zfp692 |
T |
C |
11: 58,200,268 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R9061:Samd4
|
UTSW |
14 |
47,301,728 (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'- GCCTTTCCAAAACTGTCCTGGG -3'
(R):5'- TGGTGACAGTTGAGGCTCAG -3'
Sequencing Primer
(F):5'- GATACCTGTCTCCCGAGTTCCAG -3'
(R):5'- GACAGTTGAGGCTCAGCACTTTC -3'
|
| Posted On |
2019-06-21 |
Incidental Mutation