Incidental Mutation 'IGL01434:Sohlh2'
| ID |
84283 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sohlh2
|
| Ensembl Gene |
ENSMUSG00000027794 |
| Gene Name |
spermatogenesis and oogenesis specific basic helix-loop-helix 2 |
| Synonyms |
4933406N12Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.729)
|
| Stock # |
IGL01434
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
55089465-55117378 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55102582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 206
(S206P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029369]
|
| AlphaFold |
Q9D489 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029369
AA Change: S206P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029369
Gene: ENSMUSG00000027794
AA Change: S206P
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
206 |
257 |
4.2e-8 |
SMART |
|
low complexity region
|
426 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
461 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents naturally occurring read-through transcription between the neighboring C13orf38 (chromosome 13 open reading frame 38) and SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous inactivation of this gene leads to female and male infertility due to defects in early oocyte and spermatogonial differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
A |
G |
7: 119,380,297 (GRCm39) |
|
probably benign |
Het |
| Adcy7 |
A |
G |
8: 89,051,472 (GRCm39) |
N864S |
probably damaging |
Het |
| Anapc7 |
A |
G |
5: 122,576,279 (GRCm39) |
D302G |
probably benign |
Het |
| Atm |
A |
T |
9: 53,419,107 (GRCm39) |
C782S |
probably benign |
Het |
| Bicdl1 |
G |
A |
5: 115,808,215 (GRCm39) |
Q37* |
probably null |
Het |
| Cabin1 |
T |
C |
10: 75,561,420 (GRCm39) |
D1027G |
possibly damaging |
Het |
| Cbl |
T |
C |
9: 44,075,503 (GRCm39) |
I364V |
probably damaging |
Het |
| Ccer1 |
T |
C |
10: 97,529,459 (GRCm39) |
S41P |
unknown |
Het |
| Cenpf |
G |
A |
1: 189,390,065 (GRCm39) |
Q1256* |
probably null |
Het |
| Copa |
T |
A |
1: 171,947,128 (GRCm39) |
I1093N |
probably benign |
Het |
| Cped1 |
C |
T |
6: 22,017,004 (GRCm39) |
L118F |
probably damaging |
Het |
| Cplane2 |
T |
C |
4: 140,945,964 (GRCm39) |
V169A |
probably benign |
Het |
| Cstdc4 |
T |
A |
16: 36,006,777 (GRCm39) |
V37E |
probably benign |
Het |
| Dner |
T |
C |
1: 84,361,731 (GRCm39) |
H626R |
probably benign |
Het |
| Ears2 |
G |
A |
7: 121,662,311 (GRCm39) |
|
probably benign |
Het |
| Eif3c |
A |
G |
7: 126,155,582 (GRCm39) |
I562T |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,769,090 (GRCm39) |
Y685C |
probably damaging |
Het |
| Garin1b |
T |
C |
6: 29,320,700 (GRCm39) |
V108A |
probably damaging |
Het |
| Gpt |
A |
G |
15: 76,582,982 (GRCm39) |
K321E |
probably damaging |
Het |
| Hspd1 |
C |
T |
1: 55,120,285 (GRCm39) |
G306R |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,614,306 (GRCm39) |
Y138C |
probably damaging |
Het |
| Lhcgr |
A |
G |
17: 89,049,865 (GRCm39) |
Y554H |
probably damaging |
Het |
| Nell1 |
A |
T |
7: 50,350,956 (GRCm39) |
K534N |
probably benign |
Het |
| Nob1 |
A |
G |
8: 108,151,360 (GRCm39) |
|
probably benign |
Het |
| Or13a17 |
G |
A |
7: 140,271,531 (GRCm39) |
A238T |
probably damaging |
Het |
| Phf12 |
C |
T |
11: 77,914,385 (GRCm39) |
P60L |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,531,451 (GRCm39) |
E1358G |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,029,566 (GRCm39) |
T997A |
probably benign |
Het |
| Slc9a9 |
T |
A |
9: 94,901,247 (GRCm39) |
N393K |
possibly damaging |
Het |
| Stard10 |
G |
A |
7: 100,971,187 (GRCm39) |
V125M |
probably benign |
Het |
| Tff2 |
G |
T |
17: 31,362,240 (GRCm39) |
|
probably null |
Het |
| Tha1 |
T |
C |
11: 117,759,425 (GRCm39) |
T355A |
probably benign |
Het |
| Tmem120a |
G |
T |
5: 135,765,864 (GRCm39) |
F127L |
possibly damaging |
Het |
| Tmem41b |
A |
G |
7: 109,577,909 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,515,302 (GRCm39) |
D1028G |
probably benign |
Het |
|
| Other mutations in Sohlh2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Sohlh2
|
APN |
3 |
55,115,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00574:Sohlh2
|
APN |
3 |
55,111,747 (GRCm39) |
splice site |
probably benign |
|
|
IGL02200:Sohlh2
|
APN |
3 |
55,097,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1citation:Sohlh2
|
UTSW |
3 |
55,115,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0362:Sohlh2
|
UTSW |
3 |
55,115,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0540:Sohlh2
|
UTSW |
3 |
55,115,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0607:Sohlh2
|
UTSW |
3 |
55,115,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0732:Sohlh2
|
UTSW |
3 |
55,097,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1878:Sohlh2
|
UTSW |
3 |
55,115,064 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2001:Sohlh2
|
UTSW |
3 |
55,099,762 (GRCm39) |
splice site |
probably null |
|
|
R2070:Sohlh2
|
UTSW |
3 |
55,115,043 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2071:Sohlh2
|
UTSW |
3 |
55,115,043 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4412:Sohlh2
|
UTSW |
3 |
55,104,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4413:Sohlh2
|
UTSW |
3 |
55,104,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4714:Sohlh2
|
UTSW |
3 |
55,097,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5709:Sohlh2
|
UTSW |
3 |
55,099,723 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5818:Sohlh2
|
UTSW |
3 |
55,097,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6173:Sohlh2
|
UTSW |
3 |
55,104,419 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6822:Sohlh2
|
UTSW |
3 |
55,115,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6850:Sohlh2
|
UTSW |
3 |
55,099,707 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8943:Sohlh2
|
UTSW |
3 |
55,104,282 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9789:Sohlh2
|
UTSW |
3 |
55,099,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Sohlh2
|
UTSW |
3 |
55,104,197 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Posted On |
2013-11-11 |
Incidental Mutation