Incidental Mutation 'R4378:Sobp'
| ID |
325201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sobp
|
| Ensembl Gene |
ENSMUSG00000038248 |
| Gene Name |
sine oculis binding protein |
| Synonyms |
5330439J01Rik, 2900009C16Rik, jc, Jxc1 |
| MMRRC Submission |
041121-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.682)
|
| Stock # |
R4378 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
42878496-43050526 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 42897300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 762
(V762I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040275]
|
| AlphaFold |
Q0P5V2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040275
AA Change: V762I
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040072
Gene: ENSMUSG00000038248
AA Change: V762I
| 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 |
|
| Meta Mutation Damage Score |
0.0680 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (47/49) |
| 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 |
|---|
| Abca13 |
A |
G |
11: 9,243,644 (GRCm39) |
K1836E |
probably benign |
Het |
| Adora1 |
A |
G |
1: 134,130,948 (GRCm39) |
F241S |
probably damaging |
Het |
| Akt1s1 |
C |
T |
7: 44,503,384 (GRCm39) |
T168M |
probably damaging |
Het |
| Amigo1 |
C |
T |
3: 108,099,069 (GRCm39) |
|
probably benign |
Het |
| Amigo2 |
A |
G |
15: 97,143,859 (GRCm39) |
F188L |
possibly damaging |
Het |
| Armc2 |
T |
C |
10: 41,869,078 (GRCm39) |
T29A |
possibly damaging |
Het |
| Axl |
G |
A |
7: 25,458,262 (GRCm39) |
A822V |
probably benign |
Het |
| Borcs5 |
T |
C |
6: 134,621,292 (GRCm39) |
V21A |
probably benign |
Het |
| Cdc42ep3 |
A |
G |
17: 79,642,408 (GRCm39) |
S171P |
probably benign |
Het |
| Cmas |
T |
C |
6: 142,718,011 (GRCm39) |
|
probably benign |
Het |
| Cyp4f40 |
A |
G |
17: 32,887,003 (GRCm39) |
N158S |
probably null |
Het |
| Dnah6 |
G |
T |
6: 73,095,009 (GRCm39) |
N2139K |
probably benign |
Het |
| Elmo1 |
A |
T |
13: 20,557,286 (GRCm39) |
H409L |
possibly damaging |
Het |
| Exoc1l |
A |
G |
5: 76,648,380 (GRCm39) |
K62R |
probably damaging |
Het |
| Exoc4 |
T |
A |
6: 33,792,622 (GRCm39) |
V584E |
probably damaging |
Het |
| Gm9116 |
A |
G |
3: 93,817,786 (GRCm39) |
|
noncoding transcript |
Het |
| Gxylt2 |
A |
G |
6: 100,710,161 (GRCm39) |
S101G |
probably benign |
Het |
| Hsph1 |
C |
A |
5: 149,559,472 (GRCm39) |
E24* |
probably null |
Het |
| Ighv1-56 |
C |
T |
12: 115,206,568 (GRCm39) |
E50K |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrriq1 |
A |
T |
10: 103,038,225 (GRCm39) |
D859E |
probably damaging |
Het |
| Mapk7 |
G |
A |
11: 61,384,493 (GRCm39) |
S71L |
probably damaging |
Het |
| Nars1 |
A |
G |
18: 64,634,424 (GRCm39) |
Y500H |
probably damaging |
Het |
| Or1j1 |
T |
C |
2: 36,702,481 (GRCm39) |
M208V |
probably benign |
Het |
| Or5d20-ps1 |
G |
T |
2: 87,931,829 (GRCm39) |
N167K |
unknown |
Het |
| Phc1 |
T |
C |
6: 122,311,966 (GRCm39) |
N64S |
possibly damaging |
Het |
| Ppp4r3b |
T |
A |
11: 29,159,450 (GRCm39) |
N180K |
possibly damaging |
Het |
| Primpol |
G |
A |
8: 47,029,218 (GRCm39) |
|
probably benign |
Het |
| Prtg |
T |
C |
9: 72,750,042 (GRCm39) |
S149P |
possibly damaging |
Het |
| Qrich2 |
T |
C |
11: 116,337,741 (GRCm39) |
S1916G |
probably damaging |
Het |
| Rps6ka5 |
A |
T |
12: 100,564,196 (GRCm39) |
Y218N |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 78,899,833 (GRCm39) |
D1278G |
possibly damaging |
Het |
| Sirt1 |
C |
T |
10: 63,174,728 (GRCm39) |
A8T |
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,915,581 (GRCm39) |
S1994P |
probably damaging |
Het |
| Taok3 |
T |
C |
5: 117,347,636 (GRCm39) |
I87T |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,278,004 (GRCm39) |
Y1168C |
probably damaging |
Het |
| Trhr |
A |
G |
15: 44,061,023 (GRCm39) |
Y181C |
probably damaging |
Het |
| Ube4b |
C |
T |
4: 149,468,255 (GRCm39) |
D174N |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,137,751 (GRCm39) |
H1067Y |
possibly damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,288,469 (GRCm39) |
I344T |
possibly damaging |
Het |
| Vmn2r88 |
T |
A |
14: 51,650,746 (GRCm39) |
L153* |
probably null |
Het |
| Zfp516 |
T |
A |
18: 83,005,305 (GRCm39) |
D736E |
probably benign |
Het |
| Zfp612 |
G |
T |
8: 110,815,683 (GRCm39) |
V258F |
possibly 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 |
|
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 |
|
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'- TTTTGGCACAGGCTGGATC -3'
(R):5'- ACAACGTGATACACCGTGCG -3'
Sequencing Primer
(F):5'- ACAGGCTGGATCACGCAG -3'
(R):5'- CTCACGTCAAGGCGGAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation