Incidental Mutation 'R1486:Sobp'
ID |
163478 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sobp
|
Ensembl Gene |
ENSMUSG00000038248 |
Gene Name |
sine oculis binding protein |
Synonyms |
5330439J01Rik, 2900009C16Rik, jc, Jxc1 |
MMRRC Submission |
039539-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.682)
|
Stock # |
R1486 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
42878496-43050526 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 42898518 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 356
(S356R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040072
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040275]
|
AlphaFold |
Q0P5V2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040275
AA Change: S356R
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000040072 Gene: ENSMUSG00000038248 AA Change: S356R
Domain | Start | End | E-Value | Type |
low complexity region
|
125 |
139 |
N/A |
INTRINSIC |
internal_repeat_1
|
149 |
201 |
2.34e-5 |
PROSPERO |
Pfam:SOBP
|
224 |
543 |
1.5e-88 |
PFAM |
low complexity region
|
565 |
583 |
N/A |
INTRINSIC |
low complexity region
|
590 |
603 |
N/A |
INTRINSIC |
low complexity region
|
625 |
639 |
N/A |
INTRINSIC |
low complexity region
|
695 |
714 |
N/A |
INTRINSIC |
low complexity region
|
725 |
747 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011] PHENOTYPE: Homozygous mutant mice exhibit open-field hyperactivity and circling behavior from weaning. Their hearing thresholds are elevated at all frequencies; the hearing impairment does not progress over time. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730015C16Rik |
A |
G |
4: 108,705,143 (GRCm39) |
E19G |
probably benign |
Het |
A730018C14Rik |
T |
C |
12: 112,382,129 (GRCm39) |
|
noncoding transcript |
Het |
Acrbp |
T |
A |
6: 125,027,585 (GRCm39) |
Y78N |
probably damaging |
Het |
Adamtsl4 |
T |
C |
3: 95,589,166 (GRCm39) |
S422G |
probably benign |
Het |
Apba2 |
T |
C |
7: 64,386,696 (GRCm39) |
V429A |
probably damaging |
Het |
Atf6 |
A |
G |
1: 170,622,260 (GRCm39) |
C454R |
probably damaging |
Het |
Bhlhe40 |
T |
C |
6: 108,641,890 (GRCm39) |
I278T |
probably damaging |
Het |
Birc6 |
G |
T |
17: 74,946,815 (GRCm39) |
V2845L |
probably damaging |
Het |
Card11 |
T |
C |
5: 140,862,274 (GRCm39) |
I1008V |
probably benign |
Het |
Catsperg1 |
C |
A |
7: 28,884,920 (GRCm39) |
K900N |
probably damaging |
Het |
Cep20 |
A |
G |
16: 14,118,004 (GRCm39) |
V172A |
probably benign |
Het |
Chek2 |
T |
G |
5: 110,989,093 (GRCm39) |
|
probably benign |
Het |
Dnaaf9 |
A |
G |
2: 130,579,338 (GRCm39) |
L633P |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,725,098 (GRCm39) |
S4352T |
probably damaging |
Het |
Eif3c |
C |
T |
7: 126,163,893 (GRCm39) |
R50Q |
probably damaging |
Het |
Eml6 |
A |
C |
11: 29,755,114 (GRCm39) |
I887S |
possibly damaging |
Het |
Gipc1 |
C |
T |
8: 84,387,808 (GRCm39) |
Q63* |
probably null |
Het |
Grm4 |
A |
G |
17: 27,653,691 (GRCm39) |
L706P |
probably damaging |
Het |
Irak3 |
T |
C |
10: 119,978,966 (GRCm39) |
D495G |
probably damaging |
Het |
Itga9 |
T |
G |
9: 118,455,518 (GRCm39) |
V64G |
probably damaging |
Het |
Iws1 |
T |
C |
18: 32,230,309 (GRCm39) |
I759T |
probably damaging |
Het |
Kdm3b |
T |
A |
18: 34,967,357 (GRCm39) |
F1721I |
probably damaging |
Het |
Lrrc8c |
T |
A |
5: 105,755,395 (GRCm39) |
V390E |
probably damaging |
Het |
Mki67 |
G |
A |
7: 135,301,449 (GRCm39) |
T1195I |
probably benign |
Het |
Mphosph8 |
C |
T |
14: 56,926,496 (GRCm39) |
T646I |
probably damaging |
Het |
Ncdn |
A |
T |
4: 126,642,391 (GRCm39) |
V422D |
probably damaging |
Het |
Nrg1 |
T |
C |
8: 32,308,372 (GRCm39) |
E548G |
probably damaging |
Het |
Nt5el |
T |
C |
13: 105,246,291 (GRCm39) |
V284A |
probably benign |
Het |
Nup37 |
T |
C |
10: 87,984,116 (GRCm39) |
Y11H |
probably damaging |
Het |
Or1ad1 |
G |
A |
11: 50,875,608 (GRCm39) |
V27I |
probably benign |
Het |
Or51f1e |
A |
T |
7: 102,747,637 (GRCm39) |
I230F |
probably damaging |
Het |
Or52s19 |
T |
A |
7: 103,008,201 (GRCm39) |
M67L |
possibly damaging |
Het |
Or8j3c |
T |
A |
2: 86,253,825 (GRCm39) |
H65L |
probably damaging |
Het |
Pcgf1 |
T |
G |
6: 83,056,107 (GRCm39) |
S70R |
probably damaging |
Het |
Potefam1 |
T |
G |
2: 111,030,703 (GRCm39) |
Q402P |
possibly damaging |
Het |
Prps1l3 |
C |
T |
12: 57,285,573 (GRCm39) |
A121V |
probably benign |
Het |
Rasal1 |
T |
C |
5: 120,792,917 (GRCm39) |
Y57H |
probably damaging |
Het |
Rbm12b2 |
A |
G |
4: 12,094,841 (GRCm39) |
R567G |
probably benign |
Het |
Rep15 |
T |
A |
6: 146,934,577 (GRCm39) |
F139I |
probably damaging |
Het |
Ros1 |
T |
C |
10: 52,048,954 (GRCm39) |
Y92C |
probably damaging |
Het |
Sin3b |
A |
G |
8: 73,477,141 (GRCm39) |
T803A |
probably benign |
Het |
Skint11 |
G |
A |
4: 114,052,015 (GRCm39) |
|
probably null |
Het |
Spats2l |
T |
C |
1: 57,939,970 (GRCm39) |
I228T |
probably damaging |
Het |
Sqor |
G |
A |
2: 122,649,565 (GRCm39) |
|
probably null |
Het |
Stox1 |
T |
C |
10: 62,500,415 (GRCm39) |
D715G |
probably benign |
Het |
Tln2 |
C |
A |
9: 67,219,121 (GRCm39) |
G275W |
probably damaging |
Het |
Tmc5 |
C |
T |
7: 118,272,655 (GRCm39) |
P942S |
probably benign |
Het |
Tor4a |
A |
T |
2: 25,084,691 (GRCm39) |
I404N |
possibly damaging |
Het |
Ttc3 |
G |
A |
16: 94,248,988 (GRCm39) |
R1162Q |
probably damaging |
Het |
Zfp451 |
T |
C |
1: 33,816,808 (GRCm39) |
K164E |
probably damaging |
Het |
|
Other mutations in Sobp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01016:Sobp
|
APN |
10 |
42,898,874 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02112:Sobp
|
APN |
10 |
42,897,873 (GRCm39) |
missense |
probably benign |
0.07 |
R0071:Sobp
|
UTSW |
10 |
43,033,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R0071:Sobp
|
UTSW |
10 |
43,033,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R0602:Sobp
|
UTSW |
10 |
42,898,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R0792:Sobp
|
UTSW |
10 |
42,898,689 (GRCm39) |
missense |
probably damaging |
0.99 |
R0847:Sobp
|
UTSW |
10 |
42,898,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R0948:Sobp
|
UTSW |
10 |
42,898,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R1298:Sobp
|
UTSW |
10 |
42,898,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R1484:Sobp
|
UTSW |
10 |
43,036,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R1543:Sobp
|
UTSW |
10 |
42,897,720 (GRCm39) |
missense |
probably damaging |
0.97 |
R1571:Sobp
|
UTSW |
10 |
43,033,942 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1807:Sobp
|
UTSW |
10 |
43,036,822 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2198:Sobp
|
UTSW |
10 |
42,898,520 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2316:Sobp
|
UTSW |
10 |
43,034,034 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4165:Sobp
|
UTSW |
10 |
42,897,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R4235:Sobp
|
UTSW |
10 |
42,898,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R4378:Sobp
|
UTSW |
10 |
42,897,300 (GRCm39) |
missense |
probably damaging |
0.97 |
R4587:Sobp
|
UTSW |
10 |
43,034,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R5108:Sobp
|
UTSW |
10 |
43,036,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R6165:Sobp
|
UTSW |
10 |
42,898,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R7069:Sobp
|
UTSW |
10 |
42,897,436 (GRCm39) |
missense |
probably benign |
0.37 |
R7346:Sobp
|
UTSW |
10 |
42,898,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R7419:Sobp
|
UTSW |
10 |
42,897,804 (GRCm39) |
missense |
probably benign |
0.00 |
R7423:Sobp
|
UTSW |
10 |
42,898,564 (GRCm39) |
nonsense |
probably null |
|
R7475:Sobp
|
UTSW |
10 |
42,897,830 (GRCm39) |
missense |
probably damaging |
0.98 |
R7994:Sobp
|
UTSW |
10 |
42,897,163 (GRCm39) |
nonsense |
probably null |
|
R8472:Sobp
|
UTSW |
10 |
42,898,392 (GRCm39) |
missense |
probably damaging |
0.99 |
R8558:Sobp
|
UTSW |
10 |
43,003,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R8770:Sobp
|
UTSW |
10 |
43,036,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R8832:Sobp
|
UTSW |
10 |
43,036,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R8979:Sobp
|
UTSW |
10 |
42,896,976 (GRCm39) |
critical splice donor site |
probably null |
|
R9109:Sobp
|
UTSW |
10 |
42,898,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R9213:Sobp
|
UTSW |
10 |
42,898,374 (GRCm39) |
missense |
probably benign |
0.01 |
R9298:Sobp
|
UTSW |
10 |
42,898,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R9702:Sobp
|
UTSW |
10 |
42,897,944 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGCAGCCCGAAGTTCATCATC -3'
(R):5'- GCTCACGCCAGACTCTTGGAATATC -3'
Sequencing Primer
(F):5'- AAGTTCATCATCTGGGGAACC -3'
(R):5'- CTTGGAATATCCCGCTAACAGATG -3'
|
Posted On |
2014-03-28 |