Incidental Mutation 'R6844:Samd8'
| ID |
534685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Samd8
|
| Ensembl Gene |
ENSMUSG00000021770 |
| Gene Name |
sterile alpha motif domain containing 8 |
| Synonyms |
1700010P07Rik, 1110053F04Rik, Smsr |
| MMRRC Submission |
044950-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.364)
|
| Stock # |
R6844 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
21800599-21848794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21825205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 54
(S54P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022292]
[ENSMUST00000119430]
[ENSMUST00000144061]
|
| AlphaFold |
Q9DA37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022292
AA Change: S117P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000022292
Gene: ENSMUSG00000021770
AA Change: S117P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
SAM
|
72 |
141 |
1.86e-3 |
SMART |
|
transmembrane domain
|
215 |
237 |
N/A |
INTRINSIC |
|
transmembrane domain
|
262 |
284 |
N/A |
INTRINSIC |
|
transmembrane domain
|
297 |
319 |
N/A |
INTRINSIC |
|
Pfam:PAP2_C
|
355 |
428 |
3e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119430
AA Change: S54P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112803
Gene: ENSMUSG00000021770
AA Change: S54P
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
9 |
78 |
1.86e-3 |
SMART |
|
transmembrane domain
|
152 |
174 |
N/A |
INTRINSIC |
|
transmembrane domain
|
199 |
221 |
N/A |
INTRINSIC |
|
transmembrane domain
|
234 |
256 |
N/A |
INTRINSIC |
|
Pfam:PAP2_C
|
292 |
365 |
6.1e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144061
|
| SMART Domains |
Protein: ENSMUSP00000117603
Gene: ENSMUSG00000021770
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4361 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
92% (36/39) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased ceramide phosphoethanolamine synthase activity but normal liver, kidney and spleen histology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap18 |
G |
A |
10: 26,648,682 (GRCm39) |
A35T |
probably benign |
Het |
| Arhgap21 |
A |
G |
2: 20,886,116 (GRCm39) |
S354P |
probably benign |
Het |
| Casq2 |
A |
T |
3: 102,017,578 (GRCm39) |
H86L |
possibly damaging |
Het |
| Ccdc188 |
G |
A |
16: 18,036,074 (GRCm39) |
G83E |
probably damaging |
Het |
| Cd22 |
G |
T |
7: 30,572,856 (GRCm39) |
|
probably null |
Het |
| Cyp2b13 |
T |
A |
7: 25,781,122 (GRCm39) |
I178N |
probably damaging |
Het |
| Cyp4a31 |
T |
A |
4: 115,420,989 (GRCm39) |
C26S |
probably null |
Het |
| Eif3h |
T |
C |
15: 51,728,729 (GRCm39) |
D42G |
possibly damaging |
Het |
| Elovl4 |
T |
A |
9: 83,672,164 (GRCm39) |
I52L |
probably benign |
Het |
| Fgfbp3 |
C |
A |
19: 36,896,280 (GRCm39) |
A113S |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,813,969 (GRCm39) |
K3429N |
possibly damaging |
Het |
| Gemin5 |
T |
C |
11: 58,054,730 (GRCm39) |
D224G |
probably benign |
Het |
| Gm3415 |
T |
C |
5: 146,494,811 (GRCm39) |
I158T |
probably benign |
Het |
| Gpr22 |
C |
A |
12: 31,759,951 (GRCm39) |
R20L |
probably benign |
Het |
| Htr1a |
A |
G |
13: 105,581,455 (GRCm39) |
K232E |
possibly damaging |
Het |
| Itgax |
T |
A |
7: 127,747,106 (GRCm39) |
|
probably null |
Het |
| Jag2 |
T |
C |
12: 112,880,334 (GRCm39) |
Y310C |
probably damaging |
Het |
| Lce1j |
A |
G |
3: 92,696,656 (GRCm39) |
S41P |
unknown |
Het |
| Mllt10 |
A |
G |
2: 18,164,294 (GRCm39) |
I197V |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Mybpc1 |
T |
A |
10: 88,372,243 (GRCm39) |
I796F |
possibly damaging |
Het |
| Nr2c1 |
T |
A |
10: 94,007,029 (GRCm39) |
L289* |
probably null |
Het |
| Omp |
T |
A |
7: 97,794,283 (GRCm39) |
M115L |
probably benign |
Het |
| Pdcd1 |
C |
T |
1: 93,967,106 (GRCm39) |
R264H |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,476,136 (GRCm39) |
F1119L |
probably benign |
Het |
| Ralyl |
A |
G |
3: 13,841,938 (GRCm39) |
T25A |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,064,970 (GRCm39) |
T656A |
probably damaging |
Het |
| Ripor3 |
C |
T |
2: 167,835,253 (GRCm39) |
|
probably null |
Het |
| Serpinb9g |
A |
T |
13: 33,670,616 (GRCm39) |
I35F |
probably damaging |
Het |
| Shisa8 |
T |
C |
15: 82,096,310 (GRCm39) |
S102G |
probably damaging |
Het |
| Slc4a1ap |
T |
A |
5: 31,684,822 (GRCm39) |
S153T |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,376,831 (GRCm39) |
D1028E |
probably damaging |
Het |
| Slc6a13 |
T |
A |
6: 121,302,012 (GRCm39) |
I198N |
probably damaging |
Het |
| Sst |
C |
T |
16: 23,708,592 (GRCm39) |
D80N |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,026,081 (GRCm39) |
K47E |
probably damaging |
Het |
| Tal1 |
C |
T |
4: 114,920,464 (GRCm39) |
P46L |
probably benign |
Het |
| Top2b |
A |
T |
14: 16,429,383 (GRCm38) |
N1541I |
possibly damaging |
Het |
| Vps13b |
T |
A |
15: 35,877,736 (GRCm39) |
N2903K |
probably benign |
Het |
| Zfp949 |
A |
G |
9: 88,451,464 (GRCm39) |
T345A |
possibly damaging |
Het |
| Zmat3 |
A |
G |
3: 32,395,644 (GRCm39) |
Y288H |
probably damaging |
Het |
|
| Other mutations in Samd8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01762:Samd8
|
APN |
14 |
21,830,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01837:Samd8
|
APN |
14 |
21,825,027 (GRCm39) |
splice site |
probably benign |
|
|
IGL02188:Samd8
|
APN |
14 |
21,833,866 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02338:Samd8
|
APN |
14 |
21,825,544 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02437:Samd8
|
APN |
14 |
21,825,491 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02643:Samd8
|
APN |
14 |
21,843,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
skellington
|
UTSW |
14 |
21,833,866 (GRCm39) |
critical splice donor site |
probably null |
|
|
smithie
|
UTSW |
14 |
21,842,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Stern
|
UTSW |
14 |
21,825,221 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
wellington
|
UTSW |
14 |
21,825,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0993:Samd8
|
UTSW |
14 |
21,825,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1529:Samd8
|
UTSW |
14 |
21,825,227 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2200:Samd8
|
UTSW |
14 |
21,825,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3801:Samd8
|
UTSW |
14 |
21,825,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3803:Samd8
|
UTSW |
14 |
21,825,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3981:Samd8
|
UTSW |
14 |
21,830,248 (GRCm39) |
missense |
probably null |
1.00 |
|
R4094:Samd8
|
UTSW |
14 |
21,843,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4232:Samd8
|
UTSW |
14 |
21,830,213 (GRCm39) |
missense |
probably benign |
|
|
R4847:Samd8
|
UTSW |
14 |
21,842,503 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5402:Samd8
|
UTSW |
14 |
21,825,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5421:Samd8
|
UTSW |
14 |
21,842,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5955:Samd8
|
UTSW |
14 |
21,843,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6180:Samd8
|
UTSW |
14 |
21,825,093 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6447:Samd8
|
UTSW |
14 |
21,842,624 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6451:Samd8
|
UTSW |
14 |
21,833,866 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6914:Samd8
|
UTSW |
14 |
21,825,221 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6942:Samd8
|
UTSW |
14 |
21,825,221 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7101:Samd8
|
UTSW |
14 |
21,825,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7485:Samd8
|
UTSW |
14 |
21,842,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8256:Samd8
|
UTSW |
14 |
21,833,745 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8280:Samd8
|
UTSW |
14 |
21,830,219 (GRCm39) |
nonsense |
probably null |
|
|
R9090:Samd8
|
UTSW |
14 |
21,842,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9271:Samd8
|
UTSW |
14 |
21,842,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9345:Samd8
|
UTSW |
14 |
21,830,227 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9446:Samd8
|
UTSW |
14 |
21,833,769 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTCCCTTGACAGGAAGTAGAG -3'
(R):5'- AACTCAAGTCAGGGATGGGC -3'
Sequencing Primer
(F):5'- GAAAGAAATGGCAGGTCCTAGTC -3'
(R):5'- TGGGCTCTCCGTTACAGAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation