Incidental Mutation 'IGL01643:Kash5'
| ID |
93597 |
| 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 # |
IGL01643
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44833048-44854316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44849710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 71
(M71K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121017]
|
| AlphaFold |
Q80VJ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121017
AA Change: M71K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113616
Gene: ENSMUSG00000038292
AA Change: M71K
| 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 |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
T |
11: 72,082,414 (GRCm39) |
R304Q |
probably damaging |
Het |
| Afap1l1 |
T |
A |
18: 61,884,897 (GRCm39) |
E196V |
probably damaging |
Het |
| Bmp5 |
A |
T |
9: 75,746,895 (GRCm39) |
D251V |
probably damaging |
Het |
| Ccser1 |
A |
G |
6: 61,288,839 (GRCm39) |
H334R |
probably benign |
Het |
| Crnkl1 |
A |
G |
2: 145,773,268 (GRCm39) |
M126T |
probably damaging |
Het |
| Ddrgk1 |
T |
C |
2: 130,500,214 (GRCm39) |
|
probably benign |
Het |
| Dpy19l4 |
T |
C |
4: 11,290,184 (GRCm39) |
|
probably benign |
Het |
| Eral1 |
A |
G |
11: 77,965,104 (GRCm39) |
|
probably null |
Het |
| Ereg |
T |
A |
5: 91,234,637 (GRCm39) |
S17T |
probably benign |
Het |
| Fgfr1 |
T |
A |
8: 26,056,751 (GRCm39) |
M280K |
probably benign |
Het |
| Gpr65 |
A |
G |
12: 98,242,013 (GRCm39) |
E222G |
probably damaging |
Het |
| Grid1 |
G |
T |
14: 35,045,392 (GRCm39) |
|
probably null |
Het |
| Hspa12b |
A |
G |
2: 130,984,617 (GRCm39) |
T329A |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,798,400 (GRCm39) |
I863V |
probably damaging |
Het |
| Krt8 |
G |
T |
15: 101,905,508 (GRCm39) |
S447Y |
possibly damaging |
Het |
| Lama2 |
T |
A |
10: 26,946,368 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
A |
C |
10: 38,932,846 (GRCm39) |
N574T |
probably benign |
Het |
| Lig3 |
T |
C |
11: 82,689,118 (GRCm39) |
S791P |
probably damaging |
Het |
| Oas2 |
A |
T |
5: 120,874,252 (GRCm39) |
|
probably benign |
Het |
| Or4c12b |
A |
T |
2: 89,647,017 (GRCm39) |
I116F |
probably damaging |
Het |
| Pdk1 |
A |
G |
2: 71,728,049 (GRCm39) |
D370G |
probably damaging |
Het |
| Popdc3 |
T |
A |
10: 45,190,976 (GRCm39) |
I29N |
probably damaging |
Het |
| Rbp3 |
A |
T |
14: 33,678,793 (GRCm39) |
I914F |
probably benign |
Het |
| Rnf207 |
C |
T |
4: 152,402,718 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,707,563 (GRCm39) |
I2825F |
possibly damaging |
Het |
| Slc37a2 |
A |
T |
9: 37,146,849 (GRCm39) |
|
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,336,972 (GRCm39) |
V791A |
possibly damaging |
Het |
| Wdr64 |
T |
C |
1: 175,599,877 (GRCm39) |
L127P |
probably damaging |
Het |
| Whrn |
T |
C |
4: 63,334,672 (GRCm39) |
T368A |
possibly damaging |
Het |
|
| Other mutations in Kash5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00922:Kash5
|
APN |
7 |
44,834,730 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation