Incidental Mutation 'R6447:Samd8'
| ID |
519235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Samd8
|
| Ensembl Gene |
ENSMUSG00000021770 |
| Gene Name |
sterile alpha motif domain containing 8 |
| Synonyms |
1700010P07Rik, 1110053F04Rik, Smsr |
| MMRRC Submission |
044389-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.364)
|
| Stock # |
R6447 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
21800599-21848794 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 21842624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022292]
[ENSMUST00000119430]
[ENSMUST00000144061]
|
| AlphaFold |
Q9DA37 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022292
|
| SMART Domains |
Protein: ENSMUSP00000022292
Gene: ENSMUSG00000021770
| 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
|
| SMART Domains |
Protein: ENSMUSP00000112803
Gene: ENSMUSG00000021770
| 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 |
noncoding transcript
Transcript: ENSMUST00000142023
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
A |
G |
3: 59,772,819 (GRCm39) |
I108V |
probably damaging |
Het |
| Axl |
C |
A |
7: 25,469,708 (GRCm39) |
R476I |
probably damaging |
Het |
| Casr |
A |
G |
16: 36,315,907 (GRCm39) |
L721P |
probably damaging |
Het |
| Cntn6 |
A |
T |
6: 104,836,409 (GRCm39) |
H925L |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,960,527 (GRCm39) |
Y3296C |
probably damaging |
Het |
| Dnah3 |
G |
A |
7: 119,522,277 (GRCm39) |
T3972M |
probably benign |
Het |
| Ect2 |
A |
G |
3: 27,169,633 (GRCm39) |
F740S |
probably damaging |
Het |
| Eif1ad10 |
T |
C |
12: 88,216,494 (GRCm39) |
D126G |
unknown |
Het |
| Exoc1 |
T |
A |
5: 76,691,364 (GRCm39) |
D222E |
probably damaging |
Het |
| Hdac2 |
T |
C |
10: 36,869,812 (GRCm39) |
V258A |
possibly damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,952,476 (GRCm39) |
S487P |
probably benign |
Het |
| Lyplal1 |
A |
T |
1: 185,821,639 (GRCm39) |
|
probably null |
Het |
| Nwd2 |
T |
A |
5: 63,964,898 (GRCm39) |
I1494N |
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,653,269 (GRCm39) |
E579G |
possibly damaging |
Het |
| Sccpdh |
A |
G |
1: 179,506,453 (GRCm39) |
*131W |
probably null |
Het |
| Smarcal1 |
C |
T |
1: 72,625,033 (GRCm39) |
S60L |
probably damaging |
Het |
| Stau2 |
A |
T |
1: 16,460,049 (GRCm39) |
V264E |
possibly damaging |
Het |
| T |
T |
C |
17: 8,660,463 (GRCm39) |
I217T |
possibly damaging |
Het |
| Tbc1d1 |
C |
T |
5: 64,490,836 (GRCm39) |
L896F |
probably damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Tmprss11f |
T |
C |
5: 86,676,086 (GRCm39) |
Y365C |
probably damaging |
Het |
| Trdv4 |
A |
G |
14: 54,312,931 (GRCm39) |
T102A |
probably damaging |
Het |
| Vmn1r205 |
G |
T |
13: 22,776,912 (GRCm39) |
N63K |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,572,272 (GRCm39) |
V963A |
probably benign |
Het |
| Zswim2 |
T |
C |
2: 83,745,457 (GRCm39) |
|
probably null |
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 |
|
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'- AGCTCTGAGCCTCAGTAAGC -3'
(R):5'- GGTAGGCTCTAAGCTTCTGC -3'
Sequencing Primer
(F):5'- CTCTGAGCCTCAGTAAGCATTTGAAG -3'
(R):5'- TGAACTAGGATCTACAGGCATCTGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation