Incidental Mutation 'IGL02643:Samd8'
ID |
301820 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Samd8
|
Ensembl Gene |
ENSMUSG00000021770 |
Gene Name |
sterile alpha motif domain containing 8 |
Synonyms |
1700010P07Rik, 1110053F04Rik, Smsr |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.364)
|
Stock # |
IGL02643
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
21800599-21848794 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 21843212 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 447
(M447K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022292
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022292]
[ENSMUST00000119430]
[ENSMUST00000144061]
|
AlphaFold |
Q9DA37 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022292
AA Change: M447K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000022292 Gene: ENSMUSG00000021770 AA Change: M447K
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: M384K
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112803 Gene: ENSMUSG00000021770 AA Change: M384K
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 |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
T |
G |
5: 121,769,633 (GRCm39) |
M608L |
probably benign |
Het |
Adamts2 |
A |
T |
11: 50,679,527 (GRCm39) |
M836L |
probably benign |
Het |
Ankrd11 |
A |
T |
8: 123,619,061 (GRCm39) |
M1597K |
probably damaging |
Het |
Arhgef17 |
A |
T |
7: 100,533,089 (GRCm39) |
F1145L |
possibly damaging |
Het |
Atp13a3 |
A |
T |
16: 30,152,614 (GRCm39) |
W32R |
probably null |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Bod1l |
T |
A |
5: 41,976,148 (GRCm39) |
E1722V |
possibly damaging |
Het |
Ceacam16 |
A |
G |
7: 19,595,086 (GRCm39) |
|
probably benign |
Het |
Col14a1 |
T |
A |
15: 55,284,258 (GRCm39) |
Y840N |
unknown |
Het |
Dlg5 |
A |
G |
14: 24,241,250 (GRCm39) |
C132R |
probably damaging |
Het |
Dock4 |
T |
A |
12: 40,718,429 (GRCm39) |
N242K |
probably damaging |
Het |
Dsg3 |
G |
A |
18: 20,662,012 (GRCm39) |
V426I |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,625,706 (GRCm39) |
|
probably benign |
Het |
Flvcr2 |
T |
A |
12: 85,842,997 (GRCm39) |
M357K |
possibly damaging |
Het |
Gapvd1 |
A |
G |
2: 34,594,192 (GRCm39) |
S932P |
probably damaging |
Het |
Gata4 |
T |
A |
14: 63,442,204 (GRCm39) |
D205V |
possibly damaging |
Het |
Kcnk2 |
T |
A |
1: 188,990,976 (GRCm39) |
I195L |
possibly damaging |
Het |
Krt1 |
T |
C |
15: 101,755,479 (GRCm39) |
I427V |
probably benign |
Het |
Mapk1ip1l |
T |
A |
14: 47,548,339 (GRCm39) |
H162Q |
possibly damaging |
Het |
Micu1 |
A |
G |
10: 59,675,558 (GRCm39) |
D380G |
probably damaging |
Het |
Mknk2 |
A |
C |
10: 80,504,435 (GRCm39) |
L289R |
probably damaging |
Het |
Mtcl2 |
A |
G |
2: 156,882,663 (GRCm39) |
V463A |
probably damaging |
Het |
Myo18a |
A |
T |
11: 77,668,998 (GRCm39) |
N286I |
possibly damaging |
Het |
Or5ae2 |
A |
T |
7: 84,506,239 (GRCm39) |
I221F |
probably damaging |
Het |
Pdp1 |
C |
T |
4: 11,962,062 (GRCm39) |
R83H |
probably benign |
Het |
Ptafr |
A |
C |
4: 132,307,437 (GRCm39) |
I276L |
probably benign |
Het |
Rab3gap2 |
A |
T |
1: 184,999,197 (GRCm39) |
D968V |
possibly damaging |
Het |
Rplp1rt |
T |
C |
19: 12,824,300 (GRCm39) |
|
noncoding transcript |
Het |
Six5 |
G |
T |
7: 18,831,455 (GRCm39) |
V649L |
probably benign |
Het |
Slc1a2 |
T |
A |
2: 102,570,225 (GRCm39) |
F168I |
probably benign |
Het |
Slc1a7 |
G |
A |
4: 107,869,497 (GRCm39) |
V521M |
possibly damaging |
Het |
Sorbs1 |
T |
C |
19: 40,353,577 (GRCm39) |
D206G |
possibly damaging |
Het |
Stim2 |
T |
C |
5: 54,267,955 (GRCm39) |
V417A |
probably damaging |
Het |
Tbx20 |
A |
G |
9: 24,685,009 (GRCm39) |
|
probably benign |
Het |
Tia1 |
A |
G |
6: 86,393,372 (GRCm39) |
I71V |
probably benign |
Het |
Ttc7 |
T |
C |
17: 87,648,327 (GRCm39) |
S509P |
possibly damaging |
Het |
Ttpal |
A |
G |
2: 163,449,140 (GRCm39) |
|
probably benign |
Het |
Tubgcp2 |
A |
T |
7: 139,576,067 (GRCm39) |
N865K |
probably damaging |
Het |
Wdr45 |
G |
T |
X: 7,593,288 (GRCm39) |
E62* |
probably null |
Het |
Zfp507 |
A |
G |
7: 35,494,656 (GRCm39) |
F129S |
probably damaging |
Het |
Zfp518b |
T |
A |
5: 38,831,498 (GRCm39) |
H169L |
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 |
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 |
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 |
|
|
|
Posted On |
2015-04-16 |