Incidental Mutation 'IGL00578:Krtap16-1'
ID |
332686 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Krtap16-1
|
Ensembl Gene |
ENSMUSG00000078253 |
Gene Name |
keratin associated protein 16-1 |
Synonyms |
AI450886 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL00578
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
99875536-99877423 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99876121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 428
(S428P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100671
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105050]
|
AlphaFold |
A2A5X5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105050
AA Change: S428P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000100671 Gene: ENSMUSG00000078253 AA Change: S428P
Domain | Start | End | E-Value | Type |
Pfam:Keratin_B2_2
|
45 |
92 |
3.4e-8 |
PFAM |
Pfam:Keratin_B2_2
|
88 |
132 |
1.8e-11 |
PFAM |
Pfam:Keratin_B2_2
|
142 |
191 |
1.6e-7 |
PFAM |
Pfam:Keratin_B2_2
|
172 |
221 |
9.9e-9 |
PFAM |
Pfam:Keratin_B2_2
|
198 |
246 |
8.2e-5 |
PFAM |
Pfam:Keratin_B2_2
|
212 |
266 |
3.3e-4 |
PFAM |
low complexity region
|
282 |
299 |
N/A |
INTRINSIC |
low complexity region
|
330 |
350 |
N/A |
INTRINSIC |
low complexity region
|
370 |
382 |
N/A |
INTRINSIC |
low complexity region
|
489 |
500 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118454
|
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 |
Aebp1 |
A |
G |
11: 5,821,787 (GRCm39) |
T729A |
possibly damaging |
Het |
Ank3 |
C |
A |
10: 69,838,224 (GRCm39) |
S864Y |
possibly damaging |
Het |
Ankrd44 |
G |
A |
1: 54,701,806 (GRCm39) |
|
probably benign |
Het |
Atp11c |
C |
T |
X: 59,286,177 (GRCm39) |
G996R |
probably damaging |
Het |
Col11a1 |
A |
G |
3: 113,987,755 (GRCm39) |
T250A |
possibly damaging |
Het |
Cox8a |
T |
A |
19: 7,192,770 (GRCm39) |
Y65F |
probably damaging |
Het |
Ctnnd1 |
G |
T |
2: 84,439,969 (GRCm39) |
N451K |
probably damaging |
Het |
D630045J12Rik |
T |
C |
6: 38,171,865 (GRCm39) |
T768A |
probably benign |
Het |
Esyt1 |
A |
G |
10: 128,347,612 (GRCm39) |
S999P |
probably damaging |
Het |
Fyco1 |
A |
G |
9: 123,667,962 (GRCm39) |
I88T |
probably damaging |
Het |
Kdm2b |
A |
G |
5: 123,099,630 (GRCm39) |
V103A |
probably damaging |
Het |
Klk1b26 |
T |
C |
7: 43,666,309 (GRCm39) |
S251P |
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,569,185 (GRCm39) |
V210I |
unknown |
Het |
Mapk8ip3 |
A |
T |
17: 25,119,793 (GRCm39) |
D1018E |
probably damaging |
Het |
Nxph2 |
T |
A |
2: 23,290,334 (GRCm39) |
C229S |
probably damaging |
Het |
Prickle1 |
A |
G |
15: 93,398,662 (GRCm39) |
L722P |
probably benign |
Het |
Rbm12 |
A |
T |
2: 155,937,961 (GRCm39) |
|
probably benign |
Het |
Rimoc1 |
C |
A |
15: 4,018,118 (GRCm39) |
G186C |
probably damaging |
Het |
Sfpq |
T |
C |
4: 126,919,700 (GRCm39) |
Y482H |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 177,992,615 (GRCm39) |
|
probably benign |
Het |
Unc5b |
A |
G |
10: 60,602,834 (GRCm39) |
I866T |
probably damaging |
Het |
|
Other mutations in Krtap16-1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00402:Krtap16-1
|
APN |
11 |
99,876,557 (GRCm39) |
nonsense |
probably null |
|
IGL02324:Krtap16-1
|
APN |
11 |
99,877,129 (GRCm39) |
missense |
probably damaging |
0.99 |
R0200:Krtap16-1
|
UTSW |
11 |
99,876,123 (GRCm39) |
missense |
probably damaging |
0.96 |
R0617:Krtap16-1
|
UTSW |
11 |
99,877,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R1699:Krtap16-1
|
UTSW |
11 |
99,876,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R1785:Krtap16-1
|
UTSW |
11 |
99,876,602 (GRCm39) |
nonsense |
probably null |
|
R2130:Krtap16-1
|
UTSW |
11 |
99,876,602 (GRCm39) |
nonsense |
probably null |
|
R2177:Krtap16-1
|
UTSW |
11 |
99,877,275 (GRCm39) |
missense |
probably damaging |
0.99 |
R4455:Krtap16-1
|
UTSW |
11 |
99,876,559 (GRCm39) |
missense |
probably benign |
0.44 |
R4716:Krtap16-1
|
UTSW |
11 |
99,876,000 (GRCm39) |
missense |
probably damaging |
0.99 |
R5111:Krtap16-1
|
UTSW |
11 |
99,877,378 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5122:Krtap16-1
|
UTSW |
11 |
99,876,523 (GRCm39) |
missense |
probably damaging |
0.96 |
R5254:Krtap16-1
|
UTSW |
11 |
99,876,424 (GRCm39) |
nonsense |
probably null |
|
R5481:Krtap16-1
|
UTSW |
11 |
99,876,153 (GRCm39) |
missense |
probably damaging |
0.98 |
R6557:Krtap16-1
|
UTSW |
11 |
99,875,956 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6884:Krtap16-1
|
UTSW |
11 |
99,877,284 (GRCm39) |
nonsense |
probably null |
|
R7085:Krtap16-1
|
UTSW |
11 |
99,877,111 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7675:Krtap16-1
|
UTSW |
11 |
99,876,259 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8517:Krtap16-1
|
UTSW |
11 |
99,876,524 (GRCm39) |
nonsense |
probably null |
|
R8903:Krtap16-1
|
UTSW |
11 |
99,877,170 (GRCm39) |
missense |
probably damaging |
0.96 |
R9047:Krtap16-1
|
UTSW |
11 |
99,877,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R9110:Krtap16-1
|
UTSW |
11 |
99,877,386 (GRCm39) |
missense |
probably benign |
0.02 |
R9223:Krtap16-1
|
UTSW |
11 |
99,876,071 (GRCm39) |
missense |
probably benign |
0.02 |
R9243:Krtap16-1
|
UTSW |
11 |
99,876,644 (GRCm39) |
nonsense |
probably null |
|
R9262:Krtap16-1
|
UTSW |
11 |
99,876,994 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Krtap16-1
|
UTSW |
11 |
99,876,423 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2015-08-05 |