Incidental Mutation 'R5709:Sohlh2'
| ID |
452123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sohlh2
|
| Ensembl Gene |
ENSMUSG00000027794 |
| Gene Name |
spermatogenesis and oogenesis specific basic helix-loop-helix 2 |
| Synonyms |
4933406N12Rik |
| MMRRC Submission |
043184-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.711)
|
| Stock # |
R5709 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
55089465-55117378 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55099723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 165
(L165P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029369]
|
| AlphaFold |
Q9D489 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029369
AA Change: L165P
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000029369
Gene: ENSMUSG00000027794
AA Change: L165P
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armt1 |
T |
G |
10: 4,384,903 (GRCm39) |
H39Q |
probably damaging |
Het |
| Car14 |
A |
T |
3: 95,806,300 (GRCm39) |
L284Q |
possibly damaging |
Het |
| Ccdc154 |
T |
C |
17: 25,389,118 (GRCm39) |
S437P |
probably damaging |
Het |
| Dpp9 |
C |
T |
17: 56,496,393 (GRCm39) |
V772I |
probably benign |
Het |
| Gm973 |
A |
T |
1: 59,591,714 (GRCm39) |
K366I |
possibly damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Iglc2 |
T |
C |
16: 19,017,384 (GRCm39) |
T74A |
probably benign |
Het |
| Inhbb |
T |
A |
1: 119,345,260 (GRCm39) |
Y343F |
probably damaging |
Het |
| Krt13 |
C |
T |
11: 100,008,469 (GRCm39) |
G423R |
unknown |
Het |
| Lama3 |
T |
G |
18: 12,672,856 (GRCm39) |
M2483R |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,766,206 (GRCm39) |
E279G |
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,715,015 (GRCm39) |
E205G |
probably damaging |
Het |
| Mkks |
G |
A |
2: 136,722,656 (GRCm39) |
T167I |
probably benign |
Het |
| Mmp24 |
T |
A |
2: 155,634,462 (GRCm39) |
Y61N |
probably damaging |
Het |
| Nfkb2 |
A |
G |
19: 46,298,960 (GRCm39) |
T665A |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,446,574 (GRCm39) |
W773* |
probably null |
Het |
| Or10d5j |
A |
T |
9: 39,867,859 (GRCm39) |
V136E |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,475,711 (GRCm39) |
R34* |
probably null |
Het |
| Rcn1 |
T |
C |
2: 105,225,128 (GRCm39) |
Y109C |
probably damaging |
Het |
| Rint1 |
T |
G |
5: 24,020,831 (GRCm39) |
V618G |
probably damaging |
Het |
| Rtkn2 |
T |
A |
10: 67,837,800 (GRCm39) |
N117K |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,922,171 (GRCm39) |
M1V |
probably null |
Het |
| Shb |
T |
C |
4: 45,458,327 (GRCm39) |
E279G |
probably damaging |
Het |
| Smarcad1 |
A |
G |
6: 65,051,746 (GRCm39) |
D293G |
probably benign |
Het |
| Spred2 |
T |
C |
11: 19,971,415 (GRCm39) |
C428R |
probably damaging |
Het |
| Stra8 |
A |
T |
6: 34,904,697 (GRCm39) |
D13V |
possibly damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,175,478 (GRCm39) |
V976A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,773,731 (GRCm39) |
S2297P |
unknown |
Het |
| Ttn |
A |
G |
2: 76,725,002 (GRCm39) |
|
probably null |
Het |
| Usp1 |
A |
G |
4: 98,819,360 (GRCm39) |
D274G |
probably damaging |
Het |
| Vmn1r4 |
A |
G |
6: 56,933,604 (GRCm39) |
K36R |
probably benign |
Het |
| Zfp386 |
T |
A |
12: 116,023,305 (GRCm39) |
I306N |
probably benign |
Het |
| Zmpste24 |
T |
C |
4: 120,923,075 (GRCm39) |
D380G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGACTGAAACCTATCACTTGC -3'
(R):5'- CTCATGATCTCCACTCTAGAATCTG -3'
Sequencing Primer
(F):5'- TTGCTTTCTATTTTTAAAACCCTGC -3'
(R):5'- AGAAGGCTGTCACCTGTCTTC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation