Incidental Mutation 'R1244:Sub1'
| ID |
152102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sub1
|
| Ensembl Gene |
ENSMUSG00000022205 |
| Gene Name |
SUB1 homolog, transcriptional regulator |
| Synonyms |
P15, Pc4, Rpo2tc1 |
| MMRRC Submission |
039311-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.846)
|
| Stock # |
R1244 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
11981422-11996091 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11991130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 37
(V37E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022816]
[ENSMUST00000110504]
|
| AlphaFold |
P11031 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022816
AA Change: V37E
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000022816
Gene: ENSMUSG00000022205
AA Change: V37E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
59 |
N/A |
INTRINSIC |
|
Pfam:PC4
|
62 |
117 |
5.4e-26 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110504
AA Change: V37E
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106130
Gene: ENSMUSG00000022205
AA Change: V37E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
59 |
N/A |
INTRINSIC |
|
Pfam:PC4
|
64 |
116 |
1.9e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129533
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134414
|
| Meta Mutation Damage Score |
0.1046 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous KO is embryonic lethal. Conditional KO in the brain increases sensitivity of hippocampal neurons to hypoxia, causing changes in movement, activity and spatial memory. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
C |
T |
12: 71,262,918 (GRCm39) |
T1417I |
probably benign |
Het |
| Abca14 |
G |
A |
7: 119,815,561 (GRCm39) |
A270T |
probably benign |
Het |
| Abtb3 |
C |
A |
10: 85,223,227 (GRCm39) |
T12K |
unknown |
Het |
| Ash2l |
T |
C |
8: 26,307,449 (GRCm39) |
S529G |
probably damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,180,654 (GRCm39) |
Y125C |
probably benign |
Het |
| Calca |
A |
G |
7: 114,232,962 (GRCm39) |
Y96H |
probably damaging |
Het |
| Cct4 |
A |
G |
11: 22,946,417 (GRCm39) |
E131G |
probably benign |
Het |
| Cd84 |
A |
G |
1: 171,679,397 (GRCm39) |
D25G |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,749,557 (GRCm39) |
D1728G |
probably damaging |
Het |
| Cyp39a1 |
A |
T |
17: 44,060,836 (GRCm39) |
K461N |
probably benign |
Het |
| Ddx50 |
T |
A |
10: 62,478,703 (GRCm39) |
Q161L |
probably damaging |
Het |
| Golga5 |
A |
G |
12: 102,438,554 (GRCm39) |
T90A |
probably benign |
Het |
| Heatr3 |
A |
G |
8: 88,868,367 (GRCm39) |
E39G |
possibly damaging |
Het |
| Hipk3 |
G |
A |
2: 104,263,601 (GRCm39) |
R905W |
probably damaging |
Het |
| Hsd11b1 |
T |
G |
1: 192,906,068 (GRCm39) |
M175L |
probably benign |
Het |
| Htra1 |
G |
A |
7: 130,586,799 (GRCm39) |
V461I |
possibly damaging |
Het |
| Il10 |
A |
G |
1: 130,951,953 (GRCm39) |
D162G |
probably damaging |
Het |
| Mapre2 |
A |
G |
18: 23,986,774 (GRCm39) |
K62R |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Ogfod1 |
A |
G |
8: 94,763,999 (GRCm39) |
D28G |
probably benign |
Het |
| Or5an10 |
A |
T |
19: 12,275,860 (GRCm39) |
I212N |
probably damaging |
Het |
| Perm1 |
C |
T |
4: 156,302,340 (GRCm39) |
R295C |
probably benign |
Het |
| Ppp4c |
A |
G |
7: 126,385,452 (GRCm39) |
V119A |
probably damaging |
Het |
| Scn2a |
T |
C |
2: 65,593,999 (GRCm39) |
I1616T |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,472,190 (GRCm39) |
N1390S |
probably benign |
Het |
| Tbc1d17 |
A |
T |
7: 44,493,822 (GRCm39) |
V267E |
probably damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn1r77 |
A |
T |
7: 11,775,847 (GRCm39) |
T140S |
possibly damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,092 (GRCm39) |
Y255* |
probably null |
Het |
|
| Other mutations in Sub1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1893:Sub1
|
UTSW |
15 |
11,991,130 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6415:Sub1
|
UTSW |
15 |
11,986,560 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7090:Sub1
|
UTSW |
15 |
11,986,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7269:Sub1
|
UTSW |
15 |
11,993,937 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7729:Sub1
|
UTSW |
15 |
11,986,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8814:Sub1
|
UTSW |
15 |
11,984,317 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9732:Sub1
|
UTSW |
15 |
11,986,650 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTATACAAGGGAAGACTGGTGTGCTC -3'
(R):5'- TGCCTCAACCTTAGTCAGGGTTACAG -3'
Sequencing Primer
(F):5'- ACTGGTGTGCTCAGATCAGG -3'
(R):5'- CCTTAGTCAGGGTTACAGGATATACC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation