Incidental Mutation 'R3981:Samd8'
| ID |
351189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Samd8
|
| Ensembl Gene |
ENSMUSG00000021770 |
| Gene Name |
sterile alpha motif domain containing 8 |
| Synonyms |
1700010P07Rik, 1110053F04Rik, Smsr |
| MMRRC Submission |
040943-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.364)
|
| Stock # |
R3981 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
21800599-21848794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21830248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 225
(R225G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022292]
[ENSMUST00000119430]
[ENSMUST00000144061]
|
| AlphaFold |
Q9DA37 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022292
AA Change: R288G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022292
Gene: ENSMUSG00000021770
AA Change: R288G
| 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 null
Transcript: ENSMUST00000119430
AA Change: R225G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112803
Gene: ENSMUSG00000021770
AA Change: R225G
| 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 |
0.9066 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (58/59) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
G |
11: 9,482,407 (GRCm39) |
C4313G |
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Bhlhe22 |
G |
T |
3: 18,109,058 (GRCm39) |
R36L |
probably damaging |
Het |
| Cacnb2 |
A |
G |
2: 14,609,314 (GRCm39) |
E18G |
probably benign |
Het |
| Cct2 |
G |
A |
10: 116,890,040 (GRCm39) |
P10L |
probably damaging |
Het |
| Cep295 |
G |
T |
9: 15,228,363 (GRCm39) |
|
probably benign |
Het |
| Cep89 |
A |
G |
7: 35,137,808 (GRCm39) |
R731G |
probably damaging |
Het |
| Chrnb3 |
C |
T |
8: 27,884,034 (GRCm39) |
T257M |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,461,070 (GRCm39) |
T194S |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,631,797 (GRCm39) |
K236R |
probably benign |
Het |
| Col18a1 |
C |
A |
10: 76,924,721 (GRCm39) |
D23Y |
probably damaging |
Het |
| Cry1 |
A |
T |
10: 84,982,456 (GRCm39) |
Y297N |
probably damaging |
Het |
| Defb38 |
A |
G |
8: 19,076,483 (GRCm39) |
|
probably null |
Het |
| Dlgap1 |
A |
G |
17: 70,823,780 (GRCm39) |
K255R |
probably damaging |
Het |
| Erich6 |
T |
C |
3: 58,544,125 (GRCm39) |
E154G |
probably benign |
Het |
| Esf1 |
G |
A |
2: 140,000,476 (GRCm39) |
P437S |
probably benign |
Het |
| Fkbp7 |
A |
C |
2: 76,493,601 (GRCm39) |
N197K |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,789,006 (GRCm39) |
D342E |
probably benign |
Het |
| Gbx1 |
T |
C |
5: 24,731,213 (GRCm39) |
D201G |
probably benign |
Het |
| Gm15056 |
T |
A |
8: 21,390,957 (GRCm39) |
K25N |
possibly damaging |
Het |
| Grb7 |
T |
G |
11: 98,345,391 (GRCm39) |
|
probably benign |
Het |
| H2-M3 |
C |
T |
17: 37,582,021 (GRCm39) |
A159V |
probably damaging |
Het |
| Hcar1 |
T |
C |
5: 124,016,683 (GRCm39) |
N336S |
probably benign |
Het |
| Ift122 |
T |
C |
6: 115,890,882 (GRCm39) |
V807A |
probably benign |
Het |
| Maml2 |
T |
C |
9: 13,532,364 (GRCm39) |
V526A |
possibly damaging |
Het |
| Map3k20 |
C |
T |
2: 72,268,571 (GRCm39) |
T526I |
probably damaging |
Het |
| Mfap2 |
A |
G |
4: 140,741,554 (GRCm39) |
Q71R |
possibly damaging |
Het |
| Mmd2 |
T |
C |
5: 142,550,554 (GRCm39) |
Y228C |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,235,485 (GRCm39) |
Y178N |
probably damaging |
Het |
| Mras |
T |
C |
9: 99,293,469 (GRCm39) |
D57G |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,367,512 (GRCm39) |
C2274R |
possibly damaging |
Het |
| Or8j3c |
T |
A |
2: 86,253,186 (GRCm39) |
Y278F |
probably damaging |
Het |
| Palmd |
T |
C |
3: 116,717,472 (GRCm39) |
T342A |
probably benign |
Het |
| Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
| Rdh19 |
A |
G |
10: 127,686,017 (GRCm39) |
N43S |
probably benign |
Het |
| Ros1 |
G |
A |
10: 51,996,974 (GRCm39) |
H1233Y |
possibly damaging |
Het |
| Slc7a11 |
C |
A |
3: 50,382,223 (GRCm39) |
V175L |
probably benign |
Het |
| Spata31d1c |
A |
G |
13: 65,182,925 (GRCm39) |
T156A |
possibly damaging |
Het |
| Spata31g1 |
C |
T |
4: 42,971,534 (GRCm39) |
T289I |
probably damaging |
Het |
| Spmip9 |
T |
C |
6: 70,890,283 (GRCm39) |
N170D |
possibly damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,665,060 (GRCm39) |
|
probably benign |
Het |
| Tec |
T |
A |
5: 72,980,942 (GRCm39) |
|
probably benign |
Het |
| Vps16 |
T |
C |
2: 130,284,514 (GRCm39) |
W728R |
possibly damaging |
Het |
| Xirp1 |
T |
C |
9: 119,846,810 (GRCm39) |
E691G |
probably damaging |
Het |
| Zfp605 |
T |
C |
5: 110,275,604 (GRCm39) |
S241P |
probably damaging |
Het |
| Zfp839 |
G |
A |
12: 110,832,765 (GRCm39) |
G561D |
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 |
|
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 |
|
|
R6844:Samd8
|
UTSW |
14 |
21,825,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGAGCAGTTCTGAGGTTGC -3'
(R):5'- ACTGATTGACTAAGGCCGATATCC -3'
Sequencing Primer
(F):5'- CAGTTCTGAGGTTGCTGTTAGAAAAG -3'
(R):5'- TGACTAAGGCCGATATCCTTTTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation