Incidental Mutation 'R5284:Sacm1l'
| ID |
402946 |
| 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 |
042841-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5284 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
123358824-123421665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123415485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 487
(S487P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026270]
[ENSMUST00000026273]
|
| AlphaFold |
Q9EP69 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026270
AA Change: S487P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026270
Gene: ENSMUSG00000025240
AA Change: S487P
| 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 |
probably benign
Transcript: ENSMUST00000026273
|
| SMART Domains |
Protein: ENSMUSP00000026273
Gene: ENSMUSG00000025243
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
33 |
N/A |
INTRINSIC |
|
Pfam:SNF
|
48 |
624 |
5.4e-173 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217089
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
A |
7: 45,630,483 (GRCm39) |
Q1259L |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,327,052 (GRCm39) |
S522P |
probably damaging |
Het |
| Asic5 |
C |
T |
3: 81,915,830 (GRCm39) |
P218L |
probably damaging |
Het |
| Atad1 |
T |
C |
19: 32,664,671 (GRCm39) |
M248V |
probably benign |
Het |
| Bank1 |
T |
C |
3: 135,769,915 (GRCm39) |
D522G |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,977,810 (GRCm39) |
S1168L |
probably benign |
Het |
| Cactin |
A |
G |
10: 81,159,596 (GRCm39) |
D51G |
probably damaging |
Het |
| Camkk1 |
A |
G |
11: 72,928,381 (GRCm39) |
D261G |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,421,941 (GRCm39) |
S930P |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Crim1 |
A |
T |
17: 78,620,695 (GRCm39) |
R378S |
possibly damaging |
Het |
| Dcun1d4 |
T |
C |
5: 73,680,025 (GRCm39) |
|
probably null |
Het |
| Dhdds |
A |
G |
4: 133,707,523 (GRCm39) |
V187A |
probably benign |
Het |
| Ecpas |
C |
T |
4: 58,836,172 (GRCm39) |
E723K |
possibly damaging |
Het |
| Egfem1 |
A |
G |
3: 29,704,936 (GRCm39) |
E251G |
possibly damaging |
Het |
| Ehhadh |
T |
C |
16: 21,582,094 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
G |
5: 110,815,990 (GRCm39) |
V2724A |
probably damaging |
Het |
| Epb41l4a |
T |
A |
18: 33,931,853 (GRCm39) |
T581S |
probably damaging |
Het |
| Erg |
C |
T |
16: 95,260,102 (GRCm39) |
M1I |
probably null |
Het |
| Fastkd1 |
T |
C |
2: 69,542,532 (GRCm39) |
T92A |
probably benign |
Het |
| Gabpb1 |
T |
C |
2: 126,494,277 (GRCm39) |
H116R |
possibly damaging |
Het |
| Gucy2c |
A |
G |
6: 136,740,041 (GRCm39) |
L262P |
possibly damaging |
Het |
| Ifi203 |
C |
T |
1: 173,756,274 (GRCm39) |
|
probably benign |
Het |
| Kcnk13 |
A |
C |
12: 100,027,548 (GRCm39) |
I208L |
probably benign |
Het |
| Klhl7 |
A |
G |
5: 24,364,615 (GRCm39) |
T550A |
probably benign |
Het |
| Krtap12-1 |
G |
T |
10: 77,556,799 (GRCm39) |
C114F |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,474,234 (GRCm39) |
T1650A |
probably benign |
Het |
| Myo19 |
T |
A |
11: 84,776,098 (GRCm39) |
|
probably null |
Het |
| Nav1 |
C |
T |
1: 135,377,701 (GRCm39) |
W1656* |
probably null |
Het |
| Nup188 |
A |
T |
2: 30,220,647 (GRCm39) |
S907C |
probably damaging |
Het |
| Oplah |
A |
T |
15: 76,190,759 (GRCm39) |
H125Q |
probably benign |
Het |
| Or6d12 |
T |
A |
6: 116,493,513 (GRCm39) |
Y258* |
probably null |
Het |
| Pcnx1 |
A |
T |
12: 81,965,803 (GRCm39) |
T657S |
probably benign |
Het |
| Phf14 |
C |
A |
6: 11,997,119 (GRCm39) |
Q796K |
probably damaging |
Het |
| Plaa |
T |
C |
4: 94,457,874 (GRCm39) |
I699V |
probably benign |
Het |
| Prex2 |
C |
A |
1: 11,336,314 (GRCm39) |
S1504* |
probably null |
Het |
| Prpf18 |
G |
A |
2: 4,650,481 (GRCm39) |
Q50* |
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,349,692 (GRCm39) |
Y3851C |
possibly damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,386,733 (GRCm39) |
D726G |
probably damaging |
Het |
| Setdb1 |
G |
T |
3: 95,234,881 (GRCm39) |
R941S |
probably damaging |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Smg8 |
G |
A |
11: 86,971,137 (GRCm39) |
S878L |
possibly damaging |
Het |
| Trpc4 |
T |
A |
3: 54,187,368 (GRCm39) |
V440E |
probably damaging |
Het |
| Tsen15 |
A |
G |
1: 152,247,624 (GRCm39) |
S123P |
probably damaging |
Het |
| Tspan12 |
G |
T |
6: 21,835,466 (GRCm39) |
A69D |
probably damaging |
Het |
| Ubiad1 |
G |
A |
4: 148,520,955 (GRCm39) |
T223M |
probably damaging |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,741 (GRCm39) |
K90* |
probably null |
Het |
| Wdr19 |
C |
T |
5: 65,382,752 (GRCm39) |
T492I |
probably damaging |
Het |
| Zfp423 |
C |
T |
8: 88,508,305 (GRCm39) |
D659N |
possibly 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 |
|
R5021:Sacm1l
|
UTSW |
9 |
123,411,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TGCTAGCTACTTGTAAAATGTCTG -3'
(R):5'- GGGCTATGAGATTCTAATTCATCCAC -3'
Sequencing Primer
(F):5'- CTTGTAAAATGTCTGTATTTTCAGGG -3'
(R):5'- GAAGCTGTGAACTTTCCAA -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation