Incidental Mutation 'IGL01673:Krtap9-5'
| ID |
103558 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krtap9-5
|
| Ensembl Gene |
ENSMUSG00000078255 |
| Gene Name |
keratin associated protein 9-5 |
| Synonyms |
OTTMUSG00000002205 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL01673
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
99839301-99840377 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to T
at 99840377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Cysteine
at position 359
(*359C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105052]
|
| AlphaFold |
A2A5X3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000105052
AA Change: *359C
|
| SMART Domains |
Protein: ENSMUSP00000100673
Gene: ENSMUSG00000078255
AA Change: *359C
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_3
|
4 |
21 |
5.14e-6 |
PROSPERO |
|
internal_repeat_2
|
5 |
26 |
9e-8 |
PROSPERO |
|
low complexity region
|
37 |
48 |
N/A |
INTRINSIC |
|
Pfam:Keratin_B2_2
|
52 |
94 |
2.7e-9 |
PFAM |
|
Pfam:Keratin_B2_2
|
75 |
128 |
2e-5 |
PFAM |
|
Pfam:Keratin_B2_2
|
125 |
169 |
1.7e-9 |
PFAM |
|
Pfam:Keratin_B2_2
|
198 |
245 |
6.7e-9 |
PFAM |
|
Pfam:Keratin_B2_2
|
241 |
288 |
1.1e-8 |
PFAM |
|
Pfam:Keratin_B2_2
|
284 |
317 |
5.6e-7 |
PFAM |
|
Pfam:Keratin_B2_2
|
313 |
357 |
1.5e-5 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cpz |
A |
T |
5: 35,669,891 (GRCm39) |
V262E |
probably benign |
Het |
| Cyp4f14 |
A |
G |
17: 33,130,125 (GRCm39) |
|
probably null |
Het |
| Ddx46 |
G |
T |
13: 55,800,861 (GRCm39) |
V339F |
probably damaging |
Het |
| Gpn1 |
T |
G |
5: 31,652,179 (GRCm39) |
C21W |
probably damaging |
Het |
| Gpr63 |
A |
T |
4: 25,008,014 (GRCm39) |
Q246L |
probably benign |
Het |
| Hsp90b1 |
T |
A |
10: 86,529,296 (GRCm39) |
M658L |
probably damaging |
Het |
| Immp2l |
T |
C |
12: 41,118,320 (GRCm39) |
S4P |
probably benign |
Het |
| Lgals7 |
A |
G |
7: 28,565,621 (GRCm39) |
|
probably benign |
Het |
| Mak |
G |
T |
13: 41,201,699 (GRCm39) |
|
probably null |
Het |
| Mrps18c |
A |
G |
5: 100,946,672 (GRCm39) |
R13G |
possibly damaging |
Het |
| Myo7a |
A |
G |
7: 97,703,915 (GRCm39) |
V1946A |
probably benign |
Het |
| Nfyc |
T |
C |
4: 120,636,307 (GRCm39) |
|
probably benign |
Het |
| Nkx2-4 |
C |
T |
2: 146,925,834 (GRCm39) |
V343M |
possibly damaging |
Het |
| Or5be3 |
T |
C |
2: 86,863,731 (GRCm39) |
Y278C |
probably damaging |
Het |
| Or8d2 |
T |
C |
9: 38,760,316 (GRCm39) |
V302A |
probably benign |
Het |
| Rapgef4 |
G |
T |
2: 72,071,781 (GRCm39) |
S743I |
probably damaging |
Het |
| Tcf7 |
A |
G |
11: 52,147,823 (GRCm39) |
C210R |
probably damaging |
Het |
| Ubqln3 |
T |
A |
7: 103,791,605 (GRCm39) |
I162F |
probably benign |
Het |
| Vmn1r216 |
A |
G |
13: 23,283,641 (GRCm39) |
Q108R |
probably damaging |
Het |
| Vmn1r74 |
A |
T |
7: 11,581,317 (GRCm39) |
I206F |
possibly damaging |
Het |
| Wdr64 |
T |
C |
1: 175,627,922 (GRCm39) |
I872T |
possibly damaging |
Het |
|
| Other mutations in Krtap9-5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00969:Krtap9-5
|
APN |
11 |
99,839,291 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01105:Krtap9-5
|
APN |
11 |
99,839,459 (GRCm39) |
missense |
unknown |
|
|
IGL02931:Krtap9-5
|
APN |
11 |
99,839,931 (GRCm39) |
missense |
unknown |
|
|
IGL03340:Krtap9-5
|
APN |
11 |
99,839,427 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0038:Krtap9-5
|
UTSW |
11 |
99,839,428 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1067:Krtap9-5
|
UTSW |
11 |
99,839,589 (GRCm39) |
missense |
unknown |
|
|
R2051:Krtap9-5
|
UTSW |
11 |
99,840,030 (GRCm39) |
missense |
unknown |
|
|
R2102:Krtap9-5
|
UTSW |
11 |
99,840,270 (GRCm39) |
missense |
unknown |
|
|
R4689:Krtap9-5
|
UTSW |
11 |
99,840,286 (GRCm39) |
missense |
unknown |
|
|
R5076:Krtap9-5
|
UTSW |
11 |
99,840,294 (GRCm39) |
missense |
unknown |
|
|
R5807:Krtap9-5
|
UTSW |
11 |
99,839,895 (GRCm39) |
missense |
unknown |
|
|
R7468:Krtap9-5
|
UTSW |
11 |
99,840,132 (GRCm39) |
missense |
unknown |
|
|
R7485:Krtap9-5
|
UTSW |
11 |
99,839,800 (GRCm39) |
missense |
unknown |
|
|
R8876:Krtap9-5
|
UTSW |
11 |
99,840,340 (GRCm39) |
missense |
unknown |
|
|
R9727:Krtap9-5
|
UTSW |
11 |
99,839,340 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
X0050:Krtap9-5
|
UTSW |
11 |
99,839,767 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation