Incidental Mutation 'R6557:Krtap16-1'
ID |
521915 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krtap16-1
|
Ensembl Gene |
ENSMUSG00000078253 |
Gene Name |
keratin associated protein 16-1 |
Synonyms |
AI450886 |
MMRRC Submission |
044681-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R6557 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
99875536-99877423 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 99875956 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 483
(S483G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100671
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105050]
|
AlphaFold |
A2A5X5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105050
AA Change: S483G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000100671 Gene: ENSMUSG00000078253 AA Change: S483G
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccn3 |
A |
T |
15: 54,611,323 (GRCm39) |
R153* |
probably null |
Het |
Cxcl15 |
C |
T |
5: 90,942,425 (GRCm39) |
|
probably benign |
Het |
Dysf |
A |
G |
6: 84,163,366 (GRCm39) |
D1580G |
probably damaging |
Het |
Gpc5 |
A |
T |
14: 115,329,966 (GRCm39) |
|
probably benign |
Het |
Greb1 |
T |
C |
12: 16,760,384 (GRCm39) |
I575V |
probably benign |
Het |
Hecw1 |
T |
C |
13: 14,491,231 (GRCm39) |
E174G |
possibly damaging |
Het |
Hip1 |
T |
C |
5: 135,457,573 (GRCm39) |
D300G |
possibly damaging |
Het |
Ica1l |
T |
C |
1: 60,036,784 (GRCm39) |
T336A |
probably benign |
Het |
Ikzf3 |
C |
T |
11: 98,407,707 (GRCm39) |
A45T |
probably benign |
Het |
Lamb2 |
T |
C |
9: 108,365,599 (GRCm39) |
L1394P |
probably damaging |
Het |
Liph |
T |
A |
16: 21,802,670 (GRCm39) |
E133V |
possibly damaging |
Het |
Mamdc2 |
A |
G |
19: 23,288,209 (GRCm39) |
S610P |
possibly damaging |
Het |
Map10 |
T |
C |
8: 126,396,991 (GRCm39) |
V128A |
probably damaging |
Het |
Mon2 |
C |
A |
10: 122,852,307 (GRCm39) |
C1022F |
probably damaging |
Het |
Nfatc3 |
T |
C |
8: 106,845,986 (GRCm39) |
S1039P |
probably benign |
Het |
Or4f52 |
T |
C |
2: 111,061,976 (GRCm39) |
H54R |
probably benign |
Het |
Scaper |
T |
C |
9: 55,458,134 (GRCm39) |
N879S |
probably benign |
Het |
Sec24d |
T |
C |
3: 123,136,736 (GRCm39) |
Y490H |
probably damaging |
Het |
Tdrd5 |
T |
C |
1: 156,128,291 (GRCm39) |
K137R |
probably benign |
Het |
Topaz1 |
A |
G |
9: 122,577,960 (GRCm39) |
N290S |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Zfp638 |
C |
A |
6: 83,907,092 (GRCm39) |
P419Q |
probably damaging |
Het |
Zzz3 |
T |
A |
3: 152,134,097 (GRCm39) |
L385Q |
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 |
|
IGL00578:Krtap16-1
|
APN |
11 |
99,876,121 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATAAGCAAGTGGTGTCTGGC -3'
(R):5'- TGCTATTCCATACTACGCCG -3'
Sequencing Primer
(F):5'- CAGTGTTGAGTGAACAAGATTCTAGC -3'
(R):5'- GCCCGACCTGCCTAGCTTC -3'
|
Posted On |
2018-06-06 |