Incidental Mutation 'R7675:Krtap16-1'
ID |
592429 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krtap16-1
|
Ensembl Gene |
ENSMUSG00000078253 |
Gene Name |
keratin associated protein 16-1 |
Synonyms |
AI450886 |
MMRRC Submission |
045706-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R7675 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
99875536-99877423 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99876259 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 382
(C382R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100671
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105050]
|
AlphaFold |
A2A5X5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105050
AA Change: C382R
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000100671 Gene: ENSMUSG00000078253 AA Change: C382R
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
97% (28/29) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010109A12Rik |
T |
C |
5: 93,361,233 (GRCm39) |
S96P |
unknown |
Het |
Acaca |
A |
G |
11: 84,206,742 (GRCm39) |
E1534G |
probably benign |
Het |
Adam7 |
A |
T |
14: 68,737,302 (GRCm39) |
D773E |
probably benign |
Het |
Cacna1s |
T |
A |
1: 136,038,612 (GRCm39) |
I1398N |
probably damaging |
Het |
Calu |
C |
T |
6: 29,356,516 (GRCm39) |
T14I |
probably benign |
Het |
Casp8 |
A |
G |
1: 58,863,106 (GRCm39) |
D2G |
possibly damaging |
Het |
Cldn1 |
T |
C |
16: 26,190,261 (GRCm39) |
N39S |
probably benign |
Het |
Clspn |
T |
C |
4: 126,460,113 (GRCm39) |
S447P |
probably benign |
Het |
Eef2k |
A |
G |
7: 120,457,727 (GRCm39) |
T29A |
probably benign |
Het |
Gm5519 |
G |
C |
19: 33,802,428 (GRCm39) |
G157A |
probably benign |
Het |
Gucy2c |
A |
G |
6: 136,693,030 (GRCm39) |
V723A |
possibly damaging |
Het |
Ighv1-69 |
A |
T |
12: 115,587,209 (GRCm39) |
W3R |
probably damaging |
Het |
Inava |
G |
T |
1: 136,143,741 (GRCm39) |
A565E |
probably benign |
Het |
Lrrc8a |
G |
A |
2: 30,145,680 (GRCm39) |
D165N |
probably damaging |
Het |
Mideas |
G |
T |
12: 84,220,574 (GRCm39) |
P127T |
probably damaging |
Het |
Naaladl2 |
T |
A |
3: 24,605,816 (GRCm39) |
M148L |
probably benign |
Het |
Nphp3 |
A |
T |
9: 103,893,287 (GRCm39) |
E424D |
probably benign |
Het |
Prpf40a |
T |
C |
2: 53,035,648 (GRCm39) |
K714R |
possibly damaging |
Het |
Ptpn23 |
A |
T |
9: 110,216,094 (GRCm39) |
L1254* |
probably null |
Het |
Sap30l |
A |
G |
11: 57,700,867 (GRCm39) |
K174E |
probably damaging |
Het |
Serpinb9d |
C |
T |
13: 33,386,759 (GRCm39) |
Q276* |
probably null |
Het |
Sp140l2 |
C |
T |
1: 85,224,736 (GRCm39) |
M266I |
probably benign |
Het |
Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
Tex14 |
A |
G |
11: 87,400,504 (GRCm39) |
D432G |
probably damaging |
Het |
Tmsb10b |
A |
T |
7: 24,561,784 (GRCm39) |
T28S |
probably benign |
Het |
Unc119 |
G |
A |
11: 78,234,423 (GRCm39) |
G11R |
probably damaging |
Het |
Usp36 |
A |
G |
11: 118,154,522 (GRCm39) |
V965A |
probably benign |
Het |
Vmn2r4 |
A |
T |
3: 64,322,657 (GRCm39) |
Y21N |
probably benign |
Het |
Zbtb38 |
G |
T |
9: 96,567,594 (GRCm39) |
D1163E |
probably benign |
Het |
Zfp62 |
A |
G |
11: 49,106,847 (GRCm39) |
I313V |
possibly damaging |
Het |
Zfp980 |
C |
T |
4: 145,428,164 (GRCm39) |
Q298* |
probably null |
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 |
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 |
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'- TCAGAATCAGTGCATGGCTGG -3'
(R):5'- AGCATCTGCCAACCTGTCTG -3'
Sequencing Primer
(F):5'- TGCATGGCTGGCGGGAG -3'
(R):5'- CTTCCTGCTACATAGTCAAACGATG -3'
|
Posted On |
2019-11-12 |