Incidental Mutation 'R0948:Sobp'
ID |
81721 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sobp
|
Ensembl Gene |
ENSMUSG00000038248 |
Gene Name |
sine oculis binding protein |
Synonyms |
5330439J01Rik, 2900009C16Rik, jc, Jxc1 |
MMRRC Submission |
039087-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.682)
|
Stock # |
R0948 (G1)
|
Quality Score |
115 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
42878496-43050526 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 42898205 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 460
(I460N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040072
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040275]
|
AlphaFold |
Q0P5V2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040275
AA Change: I460N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000040072 Gene: ENSMUSG00000038248 AA Change: I460N
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: 99.3%
- 3x: 98.6%
- 10x: 96.4%
- 20x: 92.4%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009A15Rik |
C |
T |
19: 8,867,390 (GRCm39) |
T63M |
probably damaging |
Het |
Abcb1a |
T |
A |
5: 8,790,621 (GRCm39) |
|
probably null |
Het |
Ahrr |
T |
C |
13: 74,361,888 (GRCm39) |
D537G |
probably damaging |
Het |
Anxa4 |
T |
A |
6: 86,718,913 (GRCm39) |
I269F |
probably damaging |
Het |
Aoc1l1 |
A |
G |
6: 48,953,278 (GRCm39) |
Y401C |
probably damaging |
Het |
Atm |
A |
T |
9: 53,407,258 (GRCm39) |
M1160K |
probably benign |
Het |
Ccdc175 |
A |
G |
12: 72,177,897 (GRCm39) |
Y434H |
probably damaging |
Het |
Col19a1 |
C |
T |
1: 24,335,882 (GRCm39) |
A855T |
probably damaging |
Het |
Cyp2a4 |
A |
G |
7: 26,010,213 (GRCm39) |
D246G |
probably damaging |
Het |
Dmbt1 |
T |
C |
7: 130,694,847 (GRCm39) |
L840P |
possibly damaging |
Het |
Dock6 |
A |
T |
9: 21,712,829 (GRCm39) |
D2009E |
probably damaging |
Het |
E2f3 |
C |
T |
13: 30,169,516 (GRCm39) |
A46T |
probably damaging |
Het |
Ect2l |
A |
T |
10: 18,016,334 (GRCm39) |
C635S |
probably damaging |
Het |
Fer1l6 |
A |
G |
15: 58,435,924 (GRCm39) |
D439G |
probably benign |
Het |
Hao1 |
A |
C |
2: 134,372,693 (GRCm39) |
M105R |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Igsf10 |
A |
G |
3: 59,238,525 (GRCm39) |
I552T |
probably damaging |
Het |
Il31ra |
A |
G |
13: 112,666,912 (GRCm39) |
S470P |
possibly damaging |
Het |
Mfsd1 |
A |
G |
3: 67,504,067 (GRCm39) |
N353S |
possibly damaging |
Het |
Mga |
T |
A |
2: 119,772,140 (GRCm39) |
F1667I |
possibly damaging |
Het |
Niban2 |
A |
G |
2: 32,812,872 (GRCm39) |
Y480C |
probably damaging |
Het |
Nwd2 |
T |
C |
5: 63,964,655 (GRCm39) |
V1413A |
probably damaging |
Het |
Or8b1 |
T |
G |
9: 38,400,244 (GRCm39) |
S306R |
probably benign |
Het |
Or8b50 |
G |
A |
9: 38,517,787 (GRCm39) |
V9I |
possibly damaging |
Het |
Osbpl10 |
T |
A |
9: 114,996,187 (GRCm39) |
V119E |
probably damaging |
Het |
Plec |
C |
A |
15: 76,089,887 (GRCm39) |
R151L |
probably benign |
Het |
Ptpn12 |
T |
C |
5: 21,203,041 (GRCm39) |
H579R |
probably benign |
Het |
Rnase4 |
G |
T |
14: 51,342,362 (GRCm39) |
G29C |
probably damaging |
Het |
Sim1 |
C |
A |
10: 50,857,423 (GRCm39) |
S391* |
probably null |
Het |
Spns3 |
A |
T |
11: 72,436,766 (GRCm39) |
D75E |
probably damaging |
Het |
Strn4 |
T |
A |
7: 16,571,638 (GRCm39) |
C26* |
probably null |
Het |
Tacstd2 |
T |
A |
6: 67,512,102 (GRCm39) |
I197L |
probably damaging |
Het |
Trpc6 |
A |
G |
9: 8,610,416 (GRCm39) |
T295A |
possibly damaging |
Het |
Txnl1 |
G |
T |
18: 63,825,191 (GRCm39) |
S18R |
possibly damaging |
Het |
U2surp |
A |
G |
9: 95,343,550 (GRCm39) |
|
probably benign |
Het |
Ube2frt |
A |
T |
12: 36,140,934 (GRCm39) |
|
probably benign |
Het |
Vwce |
A |
G |
19: 10,630,441 (GRCm39) |
Y500C |
probably damaging |
Het |
Wdr49 |
A |
C |
3: 75,358,158 (GRCm39) |
S196A |
probably benign |
Het |
Wfs1 |
T |
C |
5: 37,124,905 (GRCm39) |
Y662C |
probably damaging |
Het |
Wnt8b |
A |
C |
19: 44,498,968 (GRCm39) |
D133A |
possibly damaging |
Het |
Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
Zfp532 |
C |
A |
18: 65,756,889 (GRCm39) |
A274E |
probably damaging |
Het |
Zfp74 |
A |
G |
7: 29,635,362 (GRCm39) |
|
probably null |
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 |
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 |
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'- CCGAAGTTCATCATCTGGGGAACC -3'
(R):5'- ACACTGCCAACTGCTCTGTCAC -3'
Sequencing Primer
(F):5'- ATCTGGGGAACCGGCATC -3'
(R):5'- ATGGTGATGACCAACCGC -3'
|
Posted On |
2013-11-08 |