Incidental Mutation 'R0096:Samd4'
| ID |
155840 |
| 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 |
038382-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.784)
|
| Stock # |
R0096 (G1)
|
| Quality Score |
36 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
47120414-47343274 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47301754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 252
(M252L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022386]
[ENSMUST00000100672]
[ENSMUST00000125113]
[ENSMUST00000125688]
[ENSMUST00000137543]
[ENSMUST00000228404]
|
| AlphaFold |
Q8CBY1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022386
AA Change: M353L
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022386
Gene: ENSMUSG00000021838
AA Change: M353L
| 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 |
possibly damaging
Transcript: ENSMUST00000100672
AA Change: M265L
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000098237
Gene: ENSMUSG00000021838
AA Change: M265L
| 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 |
possibly damaging
Transcript: ENSMUST00000125113
AA Change: M252L
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122833
Gene: ENSMUSG00000021838
AA Change: M252L
| 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 |
possibly damaging
Transcript: ENSMUST00000137543
AA Change: M265L
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000114621
Gene: ENSMUSG00000021838
AA Change: M265L
| 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 |
possibly damaging
Transcript: ENSMUST00000228404
AA Change: M164L
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.0622 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.5%
|
| Validation Efficiency |
100% (69/69) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
T |
8: 106,435,563 (GRCm39) |
|
probably null |
Het |
| Adamts3 |
G |
A |
5: 89,849,576 (GRCm39) |
Q615* |
probably null |
Het |
| Adamtsl3 |
T |
A |
7: 82,114,907 (GRCm39) |
|
probably benign |
Het |
| Anks1b |
T |
C |
10: 89,909,924 (GRCm39) |
S48P |
possibly damaging |
Het |
| Aoc1l2 |
A |
C |
6: 48,908,122 (GRCm39) |
Q374P |
probably damaging |
Het |
| Arfip2 |
T |
A |
7: 105,287,437 (GRCm39) |
K94N |
probably damaging |
Het |
| Arhgap42 |
G |
T |
9: 9,009,314 (GRCm39) |
N524K |
probably damaging |
Het |
| Arhgef28 |
T |
G |
13: 98,067,762 (GRCm39) |
T1388P |
probably damaging |
Het |
| Arid4b |
T |
C |
13: 14,303,779 (GRCm39) |
V68A |
probably benign |
Het |
| BC005537 |
T |
C |
13: 24,989,923 (GRCm39) |
F129L |
probably damaging |
Het |
| Capn3 |
A |
T |
2: 120,333,010 (GRCm39) |
H592L |
possibly damaging |
Het |
| Dglucy |
A |
T |
12: 100,804,910 (GRCm39) |
I134F |
possibly damaging |
Het |
| Dhh |
T |
A |
15: 98,791,869 (GRCm39) |
M380L |
probably benign |
Het |
| Dnai2 |
A |
C |
11: 114,645,158 (GRCm39) |
D531A |
probably benign |
Het |
| Dthd1 |
A |
T |
5: 63,000,383 (GRCm39) |
R568S |
possibly damaging |
Het |
| Efr3a |
A |
G |
15: 65,727,290 (GRCm39) |
N613S |
probably damaging |
Het |
| Epb41l5 |
T |
A |
1: 119,551,641 (GRCm39) |
|
probably benign |
Het |
| Ermp1 |
A |
G |
19: 29,608,788 (GRCm39) |
Y164H |
possibly damaging |
Het |
| Fam120c |
CCAGCAGCAGCAGCAGCA |
CCAGCAGCAGCAGCA |
X: 150,127,341 (GRCm39) |
|
probably benign |
Het |
| Fbrs |
C |
T |
7: 127,088,659 (GRCm39) |
A145V |
probably damaging |
Het |
| Gm4736 |
T |
C |
6: 132,092,569 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9873 |
A |
T |
2: 168,863,029 (GRCm39) |
|
noncoding transcript |
Het |
| Grik1 |
T |
C |
16: 87,831,114 (GRCm39) |
M219V |
possibly damaging |
Het |
| Gtsf1l |
C |
T |
2: 162,929,456 (GRCm39) |
C9Y |
probably damaging |
Het |
| Itih5 |
G |
A |
2: 10,256,189 (GRCm39) |
R885Q |
probably benign |
Het |
| Kdm4c |
A |
G |
4: 74,275,580 (GRCm39) |
E752G |
probably damaging |
Het |
| Ksr1 |
A |
G |
11: 78,929,073 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,112,408 (GRCm39) |
F2283I |
probably benign |
Het |
| Luc7l3 |
A |
G |
11: 94,192,320 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
A |
T |
11: 58,277,583 (GRCm39) |
M122L |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,131,986 (GRCm39) |
E696G |
probably damaging |
Het |
| Mrps34 |
A |
G |
17: 25,114,643 (GRCm39) |
D110G |
probably damaging |
Het |
| Myh11 |
T |
A |
16: 14,022,231 (GRCm39) |
K1710M |
possibly damaging |
Het |
| Myo1d |
A |
G |
11: 80,375,158 (GRCm39) |
L972P |
probably damaging |
Het |
| Nos1ap |
T |
C |
1: 170,156,816 (GRCm39) |
D214G |
probably damaging |
Het |
| Or4c119 |
A |
T |
2: 88,986,640 (GRCm39) |
M293K |
probably benign |
Het |
| Or8b46 |
A |
T |
9: 38,450,832 (GRCm39) |
I214F |
probably damaging |
Het |
| Pate4 |
T |
G |
9: 35,523,130 (GRCm39) |
T5P |
probably damaging |
Het |
| Pygl |
A |
T |
12: 70,237,940 (GRCm39) |
|
probably benign |
Het |
| Serpinb1c |
T |
A |
13: 33,070,266 (GRCm39) |
|
probably benign |
Het |
| Sis |
A |
T |
3: 72,835,600 (GRCm39) |
W921R |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,454,965 (GRCm39) |
|
probably benign |
Het |
| Slc27a6 |
T |
C |
18: 58,731,829 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
G |
T |
2: 178,045,528 (GRCm39) |
Q31K |
probably damaging |
Het |
| Taar7f |
A |
G |
10: 23,926,152 (GRCm39) |
M249V |
probably benign |
Het |
| Tarm1 |
T |
C |
7: 3,546,067 (GRCm39) |
T79A |
probably benign |
Het |
| Tektl1 |
T |
A |
10: 78,584,539 (GRCm39) |
I328L |
probably benign |
Het |
| Trf |
A |
G |
9: 103,099,358 (GRCm39) |
F300L |
probably damaging |
Het |
| Vmn1r69 |
T |
A |
7: 10,313,985 (GRCm39) |
I170F |
probably damaging |
Het |
| Vmn2r105 |
A |
G |
17: 20,447,741 (GRCm39) |
F361S |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,686,527 (GRCm39) |
Y636C |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,231,005 (GRCm39) |
N68D |
probably damaging |
Het |
| Zfp345 |
T |
A |
2: 150,314,220 (GRCm39) |
H439L |
probably 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 |
|
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 |
|
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'- AATCTGTGAGCCATCAGTTGCTACC -3'
(R):5'- ACTAGTTTACTCACCGTGGGACACC -3'
Sequencing Primer
(F):5'- GCCATCAGTTGCTACCTAAGTTAAG -3'
(R):5'- GGGACACCAGCCAGCAC -3'
|
| Posted On |
2014-02-07 |
Incidental Mutation