Incidental Mutation 'IGL00922:Kash5'
| ID |
27805 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kash5
|
| Ensembl Gene |
ENSMUSG00000038292 |
| Gene Name |
KASH domain containing 5 |
| Synonyms |
Ccdc155, LOC384619 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00922
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44833048-44854316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44834730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 532
(E532G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042754]
[ENSMUST00000121017]
[ENSMUST00000210086]
|
| AlphaFold |
Q80VJ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042754
|
| SMART Domains |
Protein: ENSMUSP00000041047
Gene: ENSMUSG00000038300
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:TIP39
|
49 |
99 |
5e-33 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121017
AA Change: E532G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113616
Gene: ENSMUSG00000038292
AA Change: E532G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
Pfam:EF-hand_9
|
108 |
175 |
8e-31 |
PFAM |
|
Pfam:KASH_CCD
|
227 |
419 |
2.4e-90 |
PFAM |
|
low complexity region
|
472 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
638 |
647 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210086
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211277
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice are infertile. Females have small ovaries and lack ovarian follicles. Males exhibit small testes and seminiferous tubules, lack of mature sperm, increased testis apoptosis, and meiotic arrest along with limited homologous chromosome pairing and unresolved double-strand breaks. [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 |
|---|
| 2210016L21Rik |
T |
C |
5: 115,085,236 (GRCm39) |
|
probably null |
Het |
| Atr |
T |
A |
9: 95,789,398 (GRCm39) |
M1518K |
probably damaging |
Het |
| Baiap2l1 |
C |
T |
5: 144,255,777 (GRCm39) |
G59D |
probably damaging |
Het |
| BC051019 |
C |
A |
7: 109,319,883 (GRCm39) |
C60F |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,892,111 (GRCm39) |
Y135C |
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,824,163 (GRCm39) |
S535T |
probably benign |
Het |
| Chkb |
C |
T |
15: 89,306,491 (GRCm39) |
|
probably null |
Het |
| Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,204,866 (GRCm39) |
D605V |
probably damaging |
Het |
| Ddx54 |
T |
A |
5: 120,761,875 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,010,509 (GRCm39) |
|
probably benign |
Het |
| Dnaja2 |
A |
T |
8: 86,281,866 (GRCm39) |
V4E |
probably damaging |
Het |
| Dnajc22 |
T |
G |
15: 98,999,460 (GRCm39) |
L215R |
possibly damaging |
Het |
| Drc7 |
G |
A |
8: 95,804,606 (GRCm39) |
V874I |
probably benign |
Het |
| Foxa2 |
A |
C |
2: 147,886,738 (GRCm39) |
S26A |
possibly damaging |
Het |
| Gal |
A |
T |
19: 3,461,575 (GRCm39) |
V70E |
probably benign |
Het |
| Gjb4 |
T |
C |
4: 127,245,146 (GRCm39) |
Y265C |
probably benign |
Het |
| Hc |
A |
G |
2: 34,881,680 (GRCm39) |
S1423P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Map3k6 |
C |
T |
4: 132,970,355 (GRCm39) |
|
probably benign |
Het |
| Matn1 |
A |
T |
4: 130,680,285 (GRCm39) |
Q454L |
probably benign |
Het |
| Mlxip |
A |
T |
5: 123,578,128 (GRCm39) |
N148I |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,710,884 (GRCm39) |
F193L |
probably damaging |
Het |
| Myo1h |
T |
C |
5: 114,498,546 (GRCm39) |
Y881H |
probably damaging |
Het |
| Nphp4 |
C |
T |
4: 152,621,766 (GRCm39) |
|
probably benign |
Het |
| Or6c3b |
T |
G |
10: 129,527,323 (GRCm39) |
I196L |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,735,954 (GRCm39) |
V2151D |
probably damaging |
Het |
| Rnf141 |
T |
C |
7: 110,432,941 (GRCm39) |
|
probably benign |
Het |
| Rpe65 |
A |
C |
3: 159,320,179 (GRCm39) |
D277A |
probably damaging |
Het |
| Sec14l1 |
C |
T |
11: 117,044,055 (GRCm39) |
T521M |
possibly damaging |
Het |
| Slc25a30 |
A |
T |
14: 76,007,038 (GRCm39) |
Y153N |
probably damaging |
Het |
| Slc6a12 |
C |
T |
6: 121,337,414 (GRCm39) |
A366V |
probably damaging |
Het |
| Trp53bp1 |
T |
A |
2: 121,038,963 (GRCm39) |
T1367S |
probably damaging |
Het |
| Vmn2r71 |
T |
G |
7: 85,267,901 (GRCm39) |
S118R |
probably benign |
Het |
|
| Other mutations in Kash5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01120:Kash5
|
APN |
7 |
44,833,622 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01620:Kash5
|
APN |
7 |
44,839,384 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01643:Kash5
|
APN |
7 |
44,849,710 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02528:Kash5
|
APN |
7 |
44,833,170 (GRCm39) |
unclassified |
probably benign |
|
|
big_ole
|
UTSW |
7 |
44,843,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4585001:Kash5
|
UTSW |
7 |
44,849,695 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0240:Kash5
|
UTSW |
7 |
44,849,675 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1219:Kash5
|
UTSW |
7 |
44,838,832 (GRCm39) |
splice site |
probably benign |
|
|
R1768:Kash5
|
UTSW |
7 |
44,838,227 (GRCm39) |
splice site |
probably null |
|
|
R5155:Kash5
|
UTSW |
7 |
44,839,078 (GRCm39) |
nonsense |
probably null |
|
|
R5818:Kash5
|
UTSW |
7 |
44,843,383 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6746:Kash5
|
UTSW |
7 |
44,849,735 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7574:Kash5
|
UTSW |
7 |
44,854,035 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8030:Kash5
|
UTSW |
7 |
44,837,608 (GRCm39) |
small insertion |
probably benign |
|
|
R8032:Kash5
|
UTSW |
7 |
44,837,630 (GRCm39) |
small insertion |
probably benign |
|
|
R8032:Kash5
|
UTSW |
7 |
44,837,608 (GRCm39) |
small insertion |
probably benign |
|
|
R8418:Kash5
|
UTSW |
7 |
44,843,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8762:Kash5
|
UTSW |
7 |
44,845,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9083:Kash5
|
UTSW |
7 |
44,854,058 (GRCm39) |
missense |
unknown |
|
|
R9241:Kash5
|
UTSW |
7 |
44,833,313 (GRCm39) |
missense |
probably benign |
0.15 |
|
Z1176:Kash5
|
UTSW |
7 |
44,833,678 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation