Incidental Mutation 'R5021:Sacm1l'
| ID |
389201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sacm1l
|
| Ensembl Gene |
ENSMUSG00000025240 |
| Gene Name |
SAC1 suppressor of actin mutations 1-like (yeast) |
| Synonyms |
SAC1, Sac1p |
| MMRRC Submission |
042612-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5021 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
123358824-123421665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123411393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 394
(D394G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026270]
|
| AlphaFold |
Q9EP69 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026270
AA Change: D394G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026270
Gene: ENSMUSG00000025240
AA Change: D394G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syja_N
|
58 |
346 |
4.7e-88 |
PFAM |
|
low complexity region
|
400 |
415 |
N/A |
INTRINSIC |
|
Blast:IPPc
|
416 |
500 |
3e-12 |
BLAST |
|
transmembrane domain
|
521 |
543 |
N/A |
INTRINSIC |
|
transmembrane domain
|
550 |
569 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217089
|
| Meta Mutation Damage Score |
0.9666 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.8%
|
| Validation Efficiency |
95% (39/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that is localized to the endoplasmic reticulum and golgi, and functions as a phosphoinositide lipid phosphatase. Studies in mammals suggest that this gene is involved in the organization of golgi membranes and the mitotic spindles. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano5 |
A |
T |
7: 51,205,933 (GRCm39) |
T242S |
probably benign |
Het |
| B3gnt4 |
G |
C |
5: 123,649,010 (GRCm39) |
R125P |
probably damaging |
Het |
| Blvrb |
A |
C |
7: 27,147,543 (GRCm39) |
M1L |
probably benign |
Het |
| Cep112 |
T |
A |
11: 108,361,154 (GRCm39) |
H169Q |
possibly damaging |
Het |
| Clcn1 |
A |
T |
6: 42,287,922 (GRCm39) |
K718* |
probably null |
Het |
| Clhc1 |
A |
G |
11: 29,510,627 (GRCm39) |
N226S |
probably benign |
Het |
| Cpne1 |
T |
C |
2: 155,940,193 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
G |
A |
9: 56,805,014 (GRCm39) |
V1942I |
probably benign |
Het |
| Decr2 |
A |
T |
17: 26,301,980 (GRCm39) |
L250Q |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,136,758 (GRCm39) |
T1343A |
probably damaging |
Het |
| Eed |
A |
T |
7: 89,621,513 (GRCm39) |
L45M |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,524,224 (GRCm39) |
S1351T |
unknown |
Het |
| Fam184b |
T |
A |
5: 45,730,604 (GRCm39) |
Q476L |
probably benign |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,841,333 (GRCm39) |
D39G |
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,864,832 (GRCm39) |
Y206H |
probably damaging |
Het |
| Ighv1-19 |
T |
C |
12: 114,672,686 (GRCm39) |
I6V |
probably benign |
Het |
| Itm2c |
T |
C |
1: 85,833,059 (GRCm39) |
I131T |
probably damaging |
Het |
| Kcnd3 |
A |
T |
3: 105,566,070 (GRCm39) |
D417V |
probably damaging |
Het |
| Klf4 |
T |
C |
4: 55,530,970 (GRCm39) |
E38G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,228,302 (GRCm39) |
M1064V |
probably benign |
Het |
| Map4 |
C |
T |
9: 109,867,157 (GRCm39) |
Q265* |
probably null |
Het |
| Mcf2l |
T |
G |
8: 13,061,808 (GRCm39) |
V893G |
probably damaging |
Het |
| Mlst8 |
C |
T |
17: 24,696,193 (GRCm39) |
D179N |
possibly damaging |
Het |
| Mup6 |
T |
A |
4: 59,964,352 (GRCm39) |
N18K |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,466,531 (GRCm39) |
R764W |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,248,869 (GRCm39) |
S1478R |
probably benign |
Het |
| Pcdhga1 |
C |
A |
18: 37,796,876 (GRCm39) |
R627S |
probably damaging |
Het |
| Schip1 |
A |
G |
3: 68,402,585 (GRCm39) |
T221A |
probably benign |
Het |
| Slc35c1 |
A |
G |
2: 92,289,366 (GRCm39) |
Y47H |
possibly damaging |
Het |
| Tspan32 |
A |
G |
7: 142,568,715 (GRCm39) |
D70G |
probably damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,882,942 (GRCm39) |
Y270C |
possibly damaging |
Het |
| Zfp777 |
A |
G |
6: 48,019,061 (GRCm39) |
V291A |
probably damaging |
Het |
|
| Other mutations in Sacm1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00821:Sacm1l
|
APN |
9 |
123,399,614 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02598:Sacm1l
|
APN |
9 |
123,408,061 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02796:Sacm1l
|
UTSW |
9 |
123,377,989 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0138:Sacm1l
|
UTSW |
9 |
123,377,982 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0628:Sacm1l
|
UTSW |
9 |
123,378,060 (GRCm39) |
splice site |
probably benign |
|
|
R0847:Sacm1l
|
UTSW |
9 |
123,377,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1102:Sacm1l
|
UTSW |
9 |
123,411,363 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1159:Sacm1l
|
UTSW |
9 |
123,395,476 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2898:Sacm1l
|
UTSW |
9 |
123,389,666 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3001:Sacm1l
|
UTSW |
9 |
123,414,149 (GRCm39) |
splice site |
probably benign |
|
|
R3780:Sacm1l
|
UTSW |
9 |
123,381,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3852:Sacm1l
|
UTSW |
9 |
123,416,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Sacm1l
|
UTSW |
9 |
123,419,895 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4732:Sacm1l
|
UTSW |
9 |
123,419,895 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4733:Sacm1l
|
UTSW |
9 |
123,419,895 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4894:Sacm1l
|
UTSW |
9 |
123,411,409 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5033:Sacm1l
|
UTSW |
9 |
123,415,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5075:Sacm1l
|
UTSW |
9 |
123,411,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5135:Sacm1l
|
UTSW |
9 |
123,406,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5284:Sacm1l
|
UTSW |
9 |
123,415,485 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5514:Sacm1l
|
UTSW |
9 |
123,415,419 (GRCm39) |
nonsense |
probably null |
|
|
R5629:Sacm1l
|
UTSW |
9 |
123,395,464 (GRCm39) |
missense |
probably benign |
|
|
R6137:Sacm1l
|
UTSW |
9 |
123,398,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6266:Sacm1l
|
UTSW |
9 |
123,371,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7079:Sacm1l
|
UTSW |
9 |
123,399,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7147:Sacm1l
|
UTSW |
9 |
123,398,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8205:Sacm1l
|
UTSW |
9 |
123,415,724 (GRCm39) |
splice site |
probably null |
|
|
R8323:Sacm1l
|
UTSW |
9 |
123,377,987 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8544:Sacm1l
|
UTSW |
9 |
123,406,123 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8801:Sacm1l
|
UTSW |
9 |
123,411,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9131:Sacm1l
|
UTSW |
9 |
123,381,827 (GRCm39) |
nonsense |
probably null |
|
|
R9165:Sacm1l
|
UTSW |
9 |
123,398,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9732:Sacm1l
|
UTSW |
9 |
123,381,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Sacm1l
|
UTSW |
9 |
123,406,093 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGACCTTGTAACTTACGGG -3'
(R):5'- TTGTACACCAATGGCAAGGTAC -3'
Sequencing Primer
(F):5'- GACCTTGTAACTTACGGGTTTTAC -3'
(R):5'- TGGCAAGGTACAAAAATAAAACAGTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation