Incidental Mutation 'R8256:Samd8'
| ID |
640571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Samd8
|
| Ensembl Gene |
ENSMUSG00000021770 |
| Gene Name |
sterile alpha motif domain containing 8 |
| Synonyms |
1700010P07Rik, 1110053F04Rik, Smsr |
| MMRRC Submission |
067682-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.364)
|
| Stock # |
R8256 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
21800599-21848794 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 21833745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022292]
[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: 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 benign
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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
T |
16: 30,958,287 (GRCm39) |
|
probably null |
Het |
| Acsbg1 |
A |
T |
9: 54,525,345 (GRCm39) |
M402K |
probably damaging |
Het |
| Adamts2 |
T |
C |
11: 50,683,583 (GRCm39) |
V955A |
probably benign |
Het |
| Adcy2 |
C |
T |
13: 68,768,880 (GRCm39) |
E1083K |
probably damaging |
Het |
| Adgrb2 |
G |
A |
4: 129,901,921 (GRCm39) |
A484T |
probably damaging |
Het |
| Adgrv1 |
G |
T |
13: 81,727,679 (GRCm39) |
D320E |
probably damaging |
Het |
| Arf4 |
T |
C |
14: 26,377,126 (GRCm39) |
S178P |
probably benign |
Het |
| Atg9a |
G |
A |
1: 75,163,563 (GRCm39) |
T179I |
possibly damaging |
Het |
| Atp13a2 |
A |
C |
4: 140,722,922 (GRCm39) |
Q225P |
possibly damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,158,236 (GRCm39) |
T1105A |
unknown |
Het |
| Bltp2 |
T |
A |
11: 78,167,979 (GRCm39) |
D1471E |
probably benign |
Het |
| Ccdc68 |
G |
T |
18: 70,072,018 (GRCm39) |
E32* |
probably null |
Het |
| Chd9 |
T |
C |
8: 91,660,129 (GRCm39) |
V363A |
unknown |
Het |
| Cmya5 |
C |
T |
13: 93,229,986 (GRCm39) |
E1701K |
possibly damaging |
Het |
| Def8 |
T |
C |
8: 124,186,368 (GRCm39) |
F369S |
probably damaging |
Het |
| Dhx8 |
C |
T |
11: 101,631,588 (GRCm39) |
P394S |
possibly damaging |
Het |
| Fbxo3 |
A |
G |
2: 103,864,008 (GRCm39) |
R88G |
probably damaging |
Het |
| Gstm4 |
A |
G |
3: 107,951,667 (GRCm39) |
|
probably null |
Het |
| Hira |
A |
G |
16: 18,744,443 (GRCm39) |
T387A |
probably benign |
Het |
| Hspbap1 |
A |
G |
16: 35,590,879 (GRCm39) |
T12A |
probably benign |
Het |
| Lipi |
G |
A |
16: 75,370,950 (GRCm39) |
A89V |
probably benign |
Het |
| Lsamp |
A |
T |
16: 41,965,007 (GRCm39) |
Y305F |
probably damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,622,236 (GRCm39) |
|
probably benign |
Het |
| Mphosph9 |
C |
T |
5: 124,393,169 (GRCm39) |
D1116N |
probably damaging |
Het |
| Mylip |
T |
C |
13: 45,561,833 (GRCm39) |
C277R |
probably damaging |
Het |
| Mylk4 |
T |
C |
13: 32,904,522 (GRCm39) |
D204G |
probably damaging |
Het |
| Ncf2 |
G |
A |
1: 152,692,851 (GRCm39) |
|
probably null |
Het |
| Or2n1e |
T |
G |
17: 38,586,411 (GRCm39) |
L250V |
probably damaging |
Het |
| Plekhg3 |
T |
C |
12: 76,609,041 (GRCm39) |
L138P |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,578,255 (GRCm39) |
R172G |
probably benign |
Het |
| Ptk6 |
T |
A |
2: 180,837,633 (GRCm39) |
K429* |
probably null |
Het |
| Rasgrp4 |
T |
C |
7: 28,842,500 (GRCm39) |
V258A |
probably damaging |
Het |
| Rp1l1 |
T |
C |
14: 64,265,602 (GRCm39) |
L396S |
probably benign |
Het |
| Spock1 |
T |
A |
13: 57,588,257 (GRCm39) |
I269F |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,435,006 (GRCm39) |
D683G |
probably benign |
Het |
| Terb1 |
T |
C |
8: 105,199,579 (GRCm39) |
D455G |
possibly damaging |
Het |
| Tnfaip8l3 |
A |
G |
9: 53,934,528 (GRCm39) |
V149A |
probably benign |
Het |
| Ubr7 |
T |
A |
12: 102,736,170 (GRCm39) |
M364K |
probably damaging |
Het |
| Vmn1r121 |
T |
G |
7: 20,831,679 (GRCm39) |
N254H |
probably benign |
Het |
| Zfp804a |
A |
G |
2: 81,884,193 (GRCm39) |
N20S |
probably damaging |
Het |
| Zhx1 |
T |
C |
15: 57,916,359 (GRCm39) |
K629R |
probably benign |
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 |
|
|
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 |
|
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'- TTAACTCCAGTCACAGCCCG -3'
(R):5'- AAGCAAGCTCTTTACCCTCC -3'
Sequencing Primer
(F):5'- TCACAGCCCGGCCAGAG -3'
(R):5'- CCTGCATATACTGTGTCATTAATCC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation