Incidental Mutation 'IGL02200:Sohlh2'
| ID |
284167 |
| 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 # |
IGL02200
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
55089465-55117378 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 55097977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 143
(T143K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029369]
|
| AlphaFold |
Q9D489 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029369
AA Change: T143K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029369
Gene: ENSMUSG00000027794
AA Change: T143K
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,862,663 (GRCm39) |
E207G |
probably benign |
Het |
| Ahi1 |
T |
C |
10: 20,857,213 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
A |
T |
6: 118,536,302 (GRCm39) |
V97E |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,385,527 (GRCm39) |
Y736C |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,394,405 (GRCm39) |
W884R |
probably benign |
Het |
| Cflar |
A |
G |
1: 58,791,828 (GRCm39) |
D380G |
probably damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,457,690 (GRCm39) |
|
probably benign |
Het |
| Clca3b |
A |
G |
3: 144,547,190 (GRCm39) |
S316P |
probably damaging |
Het |
| Crispld1 |
T |
C |
1: 17,820,557 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
G |
A |
18: 38,023,735 (GRCm39) |
P701L |
unknown |
Het |
| Dip2b |
T |
C |
15: 100,049,083 (GRCm39) |
L159P |
possibly damaging |
Het |
| Dock1 |
A |
G |
7: 134,346,000 (GRCm39) |
T181A |
probably benign |
Het |
| Ear1 |
C |
T |
14: 44,056,709 (GRCm39) |
R53H |
probably benign |
Het |
| Gm2663 |
A |
G |
6: 40,972,947 (GRCm39) |
V220A |
probably benign |
Het |
| Gpi-ps |
A |
G |
8: 5,689,968 (GRCm39) |
|
noncoding transcript |
Het |
| Grik1 |
A |
G |
16: 87,737,453 (GRCm39) |
F614L |
probably damaging |
Het |
| Htr2a |
T |
A |
14: 74,943,605 (GRCm39) |
I395N |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,686,632 (GRCm39) |
D528G |
probably damaging |
Het |
| Kdr |
T |
C |
5: 76,110,762 (GRCm39) |
|
probably benign |
Het |
| M6pr |
A |
G |
6: 122,292,027 (GRCm39) |
M120V |
probably benign |
Het |
| Mettl13 |
G |
A |
1: 162,366,392 (GRCm39) |
|
probably benign |
Het |
| Mtfmt |
A |
G |
9: 65,356,063 (GRCm39) |
|
probably benign |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Ogfrl1 |
C |
T |
1: 23,409,150 (GRCm39) |
V359I |
probably benign |
Het |
| Or51f1d |
C |
T |
7: 102,701,000 (GRCm39) |
T165I |
probably benign |
Het |
| Ovch2 |
T |
C |
7: 107,394,030 (GRCm39) |
Y141C |
probably damaging |
Het |
| Pwwp2a |
A |
C |
11: 43,596,955 (GRCm39) |
I432L |
possibly damaging |
Het |
| Ryr3 |
C |
T |
2: 112,679,855 (GRCm39) |
V1245M |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,850,937 (GRCm39) |
H587R |
probably damaging |
Het |
| Snrnp40 |
A |
G |
4: 130,254,014 (GRCm39) |
K6E |
probably damaging |
Het |
| Snx13 |
A |
T |
12: 35,136,884 (GRCm39) |
D115V |
probably damaging |
Het |
| Spag4 |
T |
C |
2: 155,908,517 (GRCm39) |
L55S |
probably benign |
Het |
| Trgc2 |
T |
C |
13: 19,491,521 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,451,187 (GRCm39) |
S358P |
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 |
|
|
IGL01434:Sohlh2
|
APN |
3 |
55,102,582 (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 |
2015-04-16 |
Incidental Mutation