Incidental Mutation 'IGL01813:Samd7'
| ID |
154307 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Samd7
|
| Ensembl Gene |
ENSMUSG00000051860 |
| Gene Name |
sterile alpha motif domain containing 7 |
| Synonyms |
4930597A01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
IGL01813
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
30800481-30821323 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30808435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 83
(P83S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108262]
[ENSMUST00000172593]
[ENSMUST00000174395]
|
| AlphaFold |
Q8C8Y5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108262
AA Change: P83S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000103897
Gene: ENSMUSG00000051860
AA Change: P83S
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
321 |
388 |
2.12e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172593
AA Change: P83S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192872
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous knockout reduces the sensitivity of the retinal rods to low-to-moderate flash luminescence. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,117,936 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,906,359 (GRCm39) |
V929A |
probably benign |
Het |
| Aldh2 |
T |
C |
5: 121,710,136 (GRCm39) |
I400V |
probably benign |
Het |
| Atxn2l |
T |
C |
7: 126,099,425 (GRCm39) |
D84G |
probably damaging |
Het |
| Avpr1a |
T |
A |
10: 122,284,916 (GRCm39) |
N69K |
probably damaging |
Het |
| BC034090 |
G |
A |
1: 155,102,085 (GRCm39) |
Q60* |
probably null |
Het |
| Bltp1 |
G |
A |
3: 36,982,669 (GRCm39) |
S778N |
possibly damaging |
Het |
| Bub3 |
T |
C |
7: 131,170,362 (GRCm39) |
S295P |
probably benign |
Het |
| Cacna1b |
T |
C |
2: 24,499,902 (GRCm39) |
S161G |
probably damaging |
Het |
| Clba1 |
C |
T |
12: 112,779,179 (GRCm39) |
T272M |
probably damaging |
Het |
| Col6a4 |
T |
A |
9: 105,954,452 (GRCm39) |
S296C |
probably damaging |
Het |
| Cyp4f15 |
G |
A |
17: 32,905,131 (GRCm39) |
R38H |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,122,799 (GRCm39) |
I2052M |
probably damaging |
Het |
| Gm11627 |
T |
C |
11: 102,469,634 (GRCm39) |
|
probably benign |
Het |
| Jmjd8 |
A |
T |
17: 26,048,212 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
A |
G |
5: 25,495,802 (GRCm39) |
V629A |
possibly damaging |
Het |
| Kremen1 |
T |
C |
11: 5,149,667 (GRCm39) |
T335A |
probably benign |
Het |
| Oosp2 |
T |
C |
19: 11,628,847 (GRCm39) |
T85A |
probably benign |
Het |
| Or12d17 |
A |
G |
17: 37,777,649 (GRCm39) |
E184G |
probably damaging |
Het |
| Or8s10 |
A |
G |
15: 98,335,530 (GRCm39) |
Y60C |
possibly damaging |
Het |
| Pex5l |
T |
C |
3: 33,136,204 (GRCm39) |
E5G |
probably benign |
Het |
| Pigk |
A |
T |
3: 152,448,156 (GRCm39) |
Q173L |
probably damaging |
Het |
| Pik3c2g |
T |
A |
6: 139,599,407 (GRCm39) |
N174K |
possibly damaging |
Het |
| Plb1 |
C |
T |
5: 32,486,429 (GRCm39) |
H893Y |
probably damaging |
Het |
| Pus7 |
T |
C |
5: 23,965,302 (GRCm39) |
|
probably benign |
Het |
| R3hdm1 |
G |
A |
1: 128,102,970 (GRCm39) |
|
probably null |
Het |
| Supt5 |
T |
A |
7: 28,023,400 (GRCm39) |
Y293F |
probably damaging |
Het |
| Tbc1d30 |
T |
C |
10: 121,102,956 (GRCm39) |
D692G |
probably benign |
Het |
| Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
| Tnn |
A |
T |
1: 159,916,008 (GRCm39) |
H1236Q |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,781,914 (GRCm39) |
I667T |
probably benign |
Het |
| Vmn1r183 |
T |
A |
7: 23,754,985 (GRCm39) |
F263I |
probably benign |
Het |
|
| Other mutations in Samd7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01550:Samd7
|
APN |
3 |
30,819,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02884:Samd7
|
APN |
3 |
30,810,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03018:Samd7
|
APN |
3 |
30,816,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03263:Samd7
|
APN |
3 |
30,816,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0244:Samd7
|
UTSW |
3 |
30,805,222 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0638:Samd7
|
UTSW |
3 |
30,810,670 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1490:Samd7
|
UTSW |
3 |
30,812,502 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2099:Samd7
|
UTSW |
3 |
30,810,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3725:Samd7
|
UTSW |
3 |
30,805,283 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5557:Samd7
|
UTSW |
3 |
30,810,769 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5899:Samd7
|
UTSW |
3 |
30,810,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6088:Samd7
|
UTSW |
3 |
30,810,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6985:Samd7
|
UTSW |
3 |
30,805,272 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7066:Samd7
|
UTSW |
3 |
30,805,272 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7067:Samd7
|
UTSW |
3 |
30,805,272 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7073:Samd7
|
UTSW |
3 |
30,810,631 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8007:Samd7
|
UTSW |
3 |
30,812,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8368:Samd7
|
UTSW |
3 |
30,819,574 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2014-02-04 |
Incidental Mutation