Incidental Mutation 'R7148:Samd4'
| ID |
553973 |
| 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 |
045225-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.784)
|
| Stock # |
R7148 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
47120414-47343274 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 47254140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 201
(S201R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022386]
[ENSMUST00000100672]
[ENSMUST00000125113]
[ENSMUST00000137543]
[ENSMUST00000228404]
|
| AlphaFold |
Q8CBY1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022386
AA Change: S201R
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000022386
Gene: ENSMUSG00000021838
AA Change: S201R
| 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 benign
Transcript: ENSMUST00000100672
AA Change: S201R
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000098237
Gene: ENSMUSG00000021838
AA Change: S201R
| 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 benign
Transcript: ENSMUST00000125113
AA Change: S100R
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000122833
Gene: ENSMUSG00000021838
AA Change: S100R
| 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: ENSMUST00000137543
AA Change: S201R
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000114621
Gene: ENSMUSG00000021838
AA Change: S201R
| 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 benign
Transcript: ENSMUST00000228404
AA Change: S100R
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024G13Rik |
T |
A |
14: 32,110,269 (GRCm39) |
Y14F |
probably damaging |
Het |
| Acly |
A |
G |
11: 100,374,608 (GRCm39) |
V805A |
possibly damaging |
Het |
| Apcdd1 |
T |
C |
18: 63,084,916 (GRCm39) |
V371A |
probably damaging |
Het |
| Cacna1g |
A |
T |
11: 94,356,756 (GRCm39) |
F127I |
probably benign |
Het |
| Ccdc138 |
T |
C |
10: 58,374,102 (GRCm39) |
L374P |
probably damaging |
Het |
| Ces2b |
A |
G |
8: 105,564,928 (GRCm39) |
Y504C |
probably damaging |
Het |
| Ces5a |
C |
T |
8: 94,228,950 (GRCm39) |
G427S |
probably damaging |
Het |
| Chd1l |
C |
T |
3: 97,498,632 (GRCm39) |
V256M |
probably damaging |
Het |
| Col24a1 |
C |
T |
3: 145,021,060 (GRCm39) |
T477M |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,668,464 (GRCm39) |
C573* |
probably null |
Het |
| Emcn |
A |
T |
3: 137,122,855 (GRCm39) |
Y188F |
possibly damaging |
Het |
| Eva1a |
T |
G |
6: 82,048,125 (GRCm39) |
M1R |
probably null |
Het |
| Fam243 |
T |
C |
16: 92,117,875 (GRCm39) |
K138E |
probably benign |
Het |
| Fam83h |
C |
A |
15: 75,877,016 (GRCm39) |
D194Y |
probably damaging |
Het |
| Flywch1 |
T |
C |
17: 23,974,649 (GRCm39) |
K664E |
probably benign |
Het |
| Fzd9 |
A |
G |
5: 135,278,544 (GRCm39) |
V447A |
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,138,863 (GRCm39) |
D93G |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,562,605 (GRCm39) |
I2318V |
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,876,901 (GRCm39) |
L258Q |
probably damaging |
Het |
| Itprid1 |
T |
C |
6: 55,874,671 (GRCm39) |
I207T |
probably damaging |
Het |
| Kmo |
T |
A |
1: 175,479,168 (GRCm39) |
C235S |
probably damaging |
Het |
| Lamc2 |
G |
A |
1: 153,061,730 (GRCm39) |
P2S |
probably benign |
Het |
| Lman2 |
G |
A |
13: 55,500,762 (GRCm39) |
P146S |
probably benign |
Het |
| Mars2 |
T |
C |
1: 55,276,673 (GRCm39) |
I92T |
probably damaging |
Het |
| Msh3 |
A |
G |
13: 92,491,330 (GRCm39) |
F27L |
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,134,577 (GRCm39) |
V460A |
possibly damaging |
Het |
| Nicn1 |
T |
A |
9: 108,172,306 (GRCm39) |
*214R |
probably null |
Het |
| Nsd2 |
T |
C |
5: 34,042,855 (GRCm39) |
F1040L |
possibly damaging |
Het |
| Or1ab2 |
T |
A |
8: 72,864,001 (GRCm39) |
I197N |
possibly damaging |
Het |
| Osm |
T |
A |
11: 4,189,936 (GRCm39) |
I240N |
probably benign |
Het |
| Pard3b |
T |
A |
1: 62,479,191 (GRCm39) |
D884E |
probably benign |
Het |
| Pex5 |
T |
G |
6: 124,382,231 (GRCm39) |
D150A |
probably benign |
Het |
| Pfkfb4 |
T |
C |
9: 108,856,676 (GRCm39) |
V394A |
probably damaging |
Het |
| Pjvk |
A |
G |
2: 76,488,831 (GRCm39) |
K334R |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,807,525 (GRCm39) |
D171G |
probably benign |
Het |
| Prpf4b |
T |
G |
13: 35,078,455 (GRCm39) |
N688K |
probably benign |
Het |
| R3hcc1 |
T |
C |
14: 69,943,001 (GRCm39) |
E192G |
possibly damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,596,318 (GRCm39) |
G207* |
probably null |
Het |
| Rhobtb3 |
G |
T |
13: 76,059,006 (GRCm39) |
T264K |
probably benign |
Het |
| Rpl27 |
A |
G |
11: 101,333,232 (GRCm39) |
|
probably benign |
Het |
| Rxfp3 |
C |
T |
15: 11,036,863 (GRCm39) |
V170I |
possibly damaging |
Het |
| Sell |
A |
G |
1: 163,893,176 (GRCm39) |
I131V |
possibly damaging |
Het |
| Semp2l2a |
T |
A |
8: 13,887,996 (GRCm39) |
I32L |
probably benign |
Het |
| Sirpb1c |
A |
T |
3: 15,887,223 (GRCm39) |
Y205* |
probably null |
Het |
| Smc3 |
A |
T |
19: 53,630,326 (GRCm39) |
E1111V |
possibly damaging |
Het |
| Sowaha |
C |
A |
11: 53,370,182 (GRCm39) |
V185L |
probably benign |
Het |
| Spata4 |
A |
C |
8: 55,055,585 (GRCm39) |
I159L |
probably benign |
Het |
| Spring1 |
A |
G |
5: 118,393,759 (GRCm39) |
N46D |
probably benign |
Het |
| Tekt2 |
A |
G |
4: 126,216,174 (GRCm39) |
I373T |
probably benign |
Het |
| Tle7 |
G |
T |
8: 110,836,048 (GRCm39) |
R119I |
probably benign |
Het |
| Tomm20l |
T |
C |
12: 71,164,313 (GRCm39) |
V65A |
probably benign |
Het |
| Trabd2b |
A |
G |
4: 114,266,547 (GRCm39) |
D187G |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,758,613 (GRCm39) |
I2147V |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,324,429 (GRCm39) |
C440* |
probably null |
Het |
| Ube3b |
A |
C |
5: 114,544,313 (GRCm39) |
N570T |
probably damaging |
Het |
| Uevld |
A |
G |
7: 46,600,724 (GRCm39) |
I70T |
probably damaging |
Het |
| Usp10 |
C |
T |
8: 120,663,289 (GRCm39) |
T37I |
possibly damaging |
Het |
| Vmn2r23 |
T |
A |
6: 123,689,981 (GRCm39) |
F286I |
probably benign |
Het |
| Vmn2r62 |
A |
G |
7: 42,414,640 (GRCm39) |
V601A |
probably benign |
Het |
| Wdr81 |
G |
C |
11: 75,336,828 (GRCm39) |
N401K |
|
Het |
| Ythdc2 |
G |
T |
18: 44,966,189 (GRCm39) |
V142F |
probably benign |
Het |
| Zfp346 |
T |
C |
13: 55,253,263 (GRCm39) |
F36S |
possibly damaging |
Het |
| Zfp748 |
C |
T |
13: 67,690,358 (GRCm39) |
V301M |
possibly damaging |
Het |
| Zim1 |
T |
C |
7: 6,681,220 (GRCm39) |
K148E |
possibly damaging |
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 |
|
|
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'- GGCTGAATCACTTGGAGGAC -3'
(R):5'- TCCCATAGCTGAATGCCAC -3'
Sequencing Primer
(F):5'- TGAATCACTTGGAGGACCGCAC -3'
(R):5'- GTTACAGGGTGCTCAGAGC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation