Incidental Mutation 'R6165:Sobp'
| ID |
490099 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sobp
|
| Ensembl Gene |
ENSMUSG00000038248 |
| Gene Name |
sine oculis binding protein |
| Synonyms |
5330439J01Rik, 2900009C16Rik, jc, Jxc1 |
| MMRRC Submission |
044311-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.653)
|
| Stock # |
R6165 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
42878496-43050526 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42898599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 329
(S329P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040275]
|
| AlphaFold |
Q0P5V2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040275
AA Change: S329P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040072
Gene: ENSMUSG00000038248
AA Change: S329P
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.1%
|
| Validation Efficiency |
98% (47/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd35 |
A |
G |
3: 96,590,623 (GRCm39) |
E303G |
possibly damaging |
Het |
| Atosa |
A |
G |
9: 74,932,954 (GRCm39) |
T974A |
probably damaging |
Het |
| C2cd5 |
T |
C |
6: 142,995,954 (GRCm39) |
T389A |
possibly damaging |
Het |
| Catsperb |
T |
A |
12: 101,542,075 (GRCm39) |
Y592N |
possibly damaging |
Het |
| Cfap91 |
A |
G |
16: 38,154,173 (GRCm39) |
F124S |
possibly damaging |
Het |
| Cnot9 |
T |
C |
1: 74,567,952 (GRCm39) |
V280A |
probably benign |
Het |
| Cyld |
A |
G |
8: 89,473,561 (GRCm39) |
I927V |
possibly damaging |
Het |
| Etfdh |
A |
T |
3: 79,512,251 (GRCm39) |
S490T |
probably benign |
Het |
| Fance |
C |
T |
17: 28,545,068 (GRCm39) |
R150C |
probably benign |
Het |
| Far1 |
A |
G |
7: 113,153,425 (GRCm39) |
K353E |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,174,283 (GRCm39) |
I1858V |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,874,492 (GRCm39) |
K1359E |
probably benign |
Het |
| Ghdc |
T |
G |
11: 100,659,928 (GRCm39) |
E273A |
possibly damaging |
Het |
| Gpt |
A |
G |
15: 76,582,170 (GRCm39) |
D209G |
probably benign |
Het |
| Hspb7 |
T |
C |
4: 141,149,862 (GRCm39) |
F83L |
probably benign |
Het |
| Itga7 |
A |
G |
10: 128,778,804 (GRCm39) |
I306M |
probably benign |
Het |
| Itgb5 |
A |
G |
16: 33,719,612 (GRCm39) |
E261G |
probably benign |
Het |
| Kcnj14 |
G |
T |
7: 45,469,424 (GRCm39) |
A27E |
possibly damaging |
Het |
| Kif13b |
A |
G |
14: 64,979,760 (GRCm39) |
H470R |
probably damaging |
Het |
| Macroh2a1 |
A |
T |
13: 56,252,268 (GRCm39) |
N108K |
probably damaging |
Het |
| Morc3 |
T |
C |
16: 93,638,271 (GRCm39) |
F18L |
probably damaging |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,565 (GRCm39) |
C79S |
possibly damaging |
Het |
| Mroh2b |
T |
A |
15: 4,947,832 (GRCm39) |
M549K |
probably benign |
Het |
| Msl1 |
T |
C |
11: 98,695,673 (GRCm39) |
V563A |
probably damaging |
Het |
| Nwd1 |
C |
T |
8: 73,388,814 (GRCm39) |
R81W |
probably damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,507 (GRCm39) |
I11F |
possibly damaging |
Het |
| Or5b124 |
C |
T |
19: 13,610,952 (GRCm39) |
A159V |
probably benign |
Het |
| Phf2 |
C |
A |
13: 48,967,341 (GRCm39) |
|
probably null |
Het |
| Pjvk |
T |
G |
2: 76,480,562 (GRCm39) |
|
probably null |
Het |
| Rgl2 |
A |
G |
17: 34,150,739 (GRCm39) |
T66A |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rtkn |
G |
T |
6: 83,122,944 (GRCm39) |
E67D |
probably damaging |
Het |
| Serpinb9 |
T |
A |
13: 33,192,807 (GRCm39) |
F121L |
possibly damaging |
Het |
| Slc34a1 |
G |
A |
13: 23,999,053 (GRCm39) |
V149I |
probably benign |
Het |
| Syne1 |
A |
T |
10: 5,375,678 (GRCm39) |
L138Q |
probably damaging |
Het |
| Tfr2 |
T |
A |
5: 137,578,519 (GRCm39) |
V449D |
probably damaging |
Het |
| Tmem151b |
T |
C |
17: 45,856,711 (GRCm39) |
Y243C |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,940 (GRCm39) |
V2559A |
probably benign |
Het |
| Trim35 |
T |
C |
14: 66,546,654 (GRCm39) |
Y474H |
probably damaging |
Het |
| Uso1 |
A |
T |
5: 92,335,126 (GRCm39) |
L495F |
probably damaging |
Het |
| Wdr24 |
A |
G |
17: 26,045,395 (GRCm39) |
I377V |
probably benign |
Het |
| Xpo5 |
T |
A |
17: 46,546,883 (GRCm39) |
V878D |
possibly damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,256,574 (GRCm39) |
I1515V |
probably benign |
Het |
| Zfp319 |
CA |
C |
8: 96,054,733 (GRCm39) |
489 |
probably null |
Het |
| Zfp384 |
T |
G |
6: 125,001,896 (GRCm39) |
|
probably null |
Het |
| Zfp704 |
G |
T |
3: 9,508,946 (GRCm39) |
P416T |
probably benign |
Het |
| Zfr |
C |
T |
15: 12,146,331 (GRCm39) |
A294V |
unknown |
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 |
|
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 |
|
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'- AATTTGCTGCTCCATGAAGATG -3'
(R):5'- GAGACACAGGCCAATCTTCC -3'
Sequencing Primer
(F):5'- CGCGGTTGGTCATCACC -3'
(R):5'- AGGCCAATCTTCCAGCCG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation