Incidental Mutation 'R2316:Sobp'
ID |
245499 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sobp
|
Ensembl Gene |
ENSMUSG00000038248 |
Gene Name |
sine oculis binding protein |
Synonyms |
5330439J01Rik, 2900009C16Rik, jc, Jxc1 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.682)
|
Stock # |
R2316 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
42878496-43050526 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 43034034 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 97
(N97K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040072
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040275]
|
AlphaFold |
Q0P5V2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040275
AA Change: N97K
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000040072 Gene: ENSMUSG00000038248 AA Change: N97K
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187332
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563I02Rik |
A |
G |
14: 60,333,519 (GRCm39) |
|
probably benign |
Het |
Acaca |
T |
C |
11: 84,154,906 (GRCm39) |
M987T |
probably benign |
Het |
Acaca |
A |
G |
11: 84,185,809 (GRCm39) |
T115A |
possibly damaging |
Het |
Aknad1 |
A |
T |
3: 108,688,472 (GRCm39) |
D600V |
probably damaging |
Het |
Arfgef3 |
T |
A |
10: 18,492,701 (GRCm39) |
T1237S |
probably benign |
Het |
Brd4 |
A |
T |
17: 32,431,884 (GRCm39) |
L660Q |
probably benign |
Het |
Casp1 |
A |
G |
9: 5,306,213 (GRCm39) |
D366G |
possibly damaging |
Het |
Casp8ap2 |
C |
A |
4: 32,643,781 (GRCm39) |
S951R |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,777,756 (GRCm39) |
E2589G |
probably damaging |
Het |
Dchs1 |
T |
C |
7: 105,413,411 (GRCm39) |
T1135A |
possibly damaging |
Het |
Dnhd1 |
T |
C |
7: 105,323,628 (GRCm39) |
V633A |
probably damaging |
Het |
Dock6 |
G |
T |
9: 21,750,973 (GRCm39) |
H400Q |
probably damaging |
Het |
Dzip1 |
A |
G |
14: 119,138,952 (GRCm39) |
F426L |
probably benign |
Het |
Elovl4 |
A |
G |
9: 83,662,826 (GRCm39) |
S236P |
probably damaging |
Het |
Emp1 |
T |
C |
6: 135,357,123 (GRCm39) |
F67S |
probably damaging |
Het |
Garnl3 |
A |
G |
2: 32,895,164 (GRCm39) |
L635P |
probably damaging |
Het |
Htr7 |
C |
A |
19: 35,946,703 (GRCm39) |
|
probably null |
Het |
Kcnd3 |
A |
C |
3: 105,576,442 (GRCm39) |
S629R |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,322,191 (GRCm39) |
I1913F |
possibly damaging |
Het |
Med19 |
T |
A |
2: 84,516,587 (GRCm39) |
D208E |
probably benign |
Het |
Mettl21c |
A |
T |
1: 44,052,792 (GRCm39) |
V75E |
probably damaging |
Het |
Nhsl3 |
T |
C |
4: 129,117,540 (GRCm39) |
T375A |
probably damaging |
Het |
Nsd1 |
A |
T |
13: 55,381,779 (GRCm39) |
R64S |
probably damaging |
Het |
Or10g3b |
A |
G |
14: 52,587,395 (GRCm39) |
I36T |
probably benign |
Het |
Or51v8 |
A |
T |
7: 103,319,674 (GRCm39) |
I188N |
probably damaging |
Het |
Or5p50 |
T |
A |
7: 107,422,007 (GRCm39) |
Y223F |
probably benign |
Het |
Peds1 |
T |
A |
2: 167,496,635 (GRCm39) |
Q46L |
possibly damaging |
Het |
Plat |
T |
A |
8: 23,266,881 (GRCm39) |
M291K |
probably benign |
Het |
Psmb4 |
T |
C |
3: 94,792,322 (GRCm39) |
E200G |
probably benign |
Het |
Reln |
T |
C |
5: 22,359,954 (GRCm39) |
Y190C |
probably benign |
Het |
Rp1 |
A |
G |
1: 4,415,863 (GRCm39) |
S1750P |
probably damaging |
Het |
Slc5a4a |
T |
A |
10: 76,013,915 (GRCm39) |
|
probably null |
Het |
Stac3 |
T |
C |
10: 127,339,229 (GRCm39) |
|
probably null |
Het |
Stat5b |
G |
T |
11: 100,687,318 (GRCm39) |
T436K |
probably damaging |
Het |
Tas1r3 |
A |
T |
4: 155,947,772 (GRCm39) |
M7K |
probably benign |
Het |
Vps13b |
C |
T |
15: 35,675,045 (GRCm39) |
Q1722* |
probably null |
Het |
Zfp677 |
A |
T |
17: 21,617,582 (GRCm39) |
Y213F |
probably benign |
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 |
R1486:Sobp
|
UTSW |
10 |
42,898,518 (GRCm39) |
missense |
probably benign |
0.42 |
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 |
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'- CGGTACCAGATCACTATGGATGG -3'
(R):5'- GTCAAACTCTAAAGCTTCAGGAAGG -3'
Sequencing Primer
(F):5'- GTACCAGATCACTATGGATGGCAATC -3'
(R):5'- AGGGAGGATTTACGTGTAAT -3'
|
Posted On |
2014-10-30 |