Incidental Mutation 'R4421:Krt13'
| ID |
327110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt13
|
| Ensembl Gene |
ENSMUSG00000044041 |
| Gene Name |
keratin 13 |
| Synonyms |
Krt1-13, K13, Krt-1.13 |
| MMRRC Submission |
041142-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R4421 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100008153-100012392 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 100009761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 340
(T340P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007275]
|
| AlphaFold |
P08730 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007275
AA Change: T340P
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000007275
Gene: ENSMUSG00000044041
AA Change: T340P
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
5 |
21 |
1.02e-5 |
PROSPERO |
|
internal_repeat_1
|
16 |
32 |
1.02e-5 |
PROSPERO |
|
low complexity region
|
39 |
94 |
N/A |
INTRINSIC |
|
Filament
|
95 |
407 |
7.21e-169 |
SMART |
|
low complexity region
|
409 |
430 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128934
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134282
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
G |
C |
9: 106,312,912 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,714,421 (GRCm39) |
E234G |
probably damaging |
Het |
| Aga |
T |
C |
8: 53,964,861 (GRCm39) |
S8P |
probably benign |
Het |
| C1s2 |
T |
C |
6: 124,602,174 (GRCm39) |
D673G |
probably benign |
Het |
| Capza3 |
G |
A |
6: 139,987,768 (GRCm39) |
M122I |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,242,800 (GRCm39) |
S735P |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,441,508 (GRCm39) |
F13L |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,805,672 (GRCm39) |
M1078K |
unknown |
Het |
| Colgalt2 |
A |
T |
1: 152,360,763 (GRCm39) |
I267F |
probably damaging |
Het |
| Cpped1 |
T |
C |
16: 11,623,221 (GRCm39) |
*299W |
probably null |
Het |
| Cyp3a59 |
A |
G |
5: 146,041,713 (GRCm39) |
|
probably null |
Het |
| Ddx42 |
T |
A |
11: 106,121,964 (GRCm39) |
Y160N |
probably damaging |
Het |
| Dhx35 |
A |
T |
2: 158,648,321 (GRCm39) |
R60W |
probably damaging |
Het |
| Gbp10 |
T |
C |
5: 105,372,517 (GRCm39) |
|
probably null |
Het |
| Gtf2i |
T |
C |
5: 134,283,891 (GRCm39) |
T467A |
possibly damaging |
Het |
| Hip1r |
G |
C |
5: 124,135,925 (GRCm39) |
G542A |
possibly damaging |
Het |
| Hspg2 |
G |
A |
4: 137,275,433 (GRCm39) |
A2748T |
probably benign |
Het |
| Kcnq3 |
T |
C |
15: 65,867,360 (GRCm39) |
Y761C |
probably benign |
Het |
| Map2k5 |
A |
G |
9: 63,071,412 (GRCm39) |
C435R |
probably damaging |
Het |
| Ms4a4c |
T |
A |
19: 11,393,739 (GRCm39) |
I53K |
probably damaging |
Het |
| Myh15 |
T |
A |
16: 48,929,707 (GRCm39) |
F544L |
probably damaging |
Het |
| Neurod2 |
G |
T |
11: 98,219,026 (GRCm39) |
S46* |
probably null |
Het |
| Nsd3 |
T |
A |
8: 26,131,288 (GRCm39) |
S218T |
probably damaging |
Het |
| Or2ag2 |
G |
T |
7: 106,485,660 (GRCm39) |
D121E |
probably damaging |
Het |
| Or4p22 |
A |
T |
2: 88,317,585 (GRCm39) |
N170Y |
probably damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Prrg3 |
A |
T |
X: 71,010,915 (GRCm39) |
S141C |
probably damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,425,056 (GRCm39) |
D433E |
probably benign |
Het |
| Rbm28 |
T |
C |
6: 29,154,836 (GRCm39) |
D278G |
probably damaging |
Het |
| Sbpl |
A |
G |
17: 24,173,860 (GRCm39) |
L8P |
unknown |
Het |
| Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
| Tdrd3 |
A |
G |
14: 87,723,719 (GRCm39) |
E311G |
probably damaging |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,189,167 (GRCm39) |
N3917D |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,708 (GRCm39) |
N619D |
probably damaging |
Het |
| Xab2 |
C |
A |
8: 3,664,244 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Krt13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01780:Krt13
|
APN |
11 |
100,010,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02532:Krt13
|
APN |
11 |
100,010,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02934:Krt13
|
APN |
11 |
100,009,910 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4651001:Krt13
|
UTSW |
11 |
100,010,862 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0092:Krt13
|
UTSW |
11 |
100,012,258 (GRCm39) |
nonsense |
probably null |
|
|
R0722:Krt13
|
UTSW |
11 |
100,009,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1228:Krt13
|
UTSW |
11 |
100,012,303 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1400:Krt13
|
UTSW |
11 |
100,012,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Krt13
|
UTSW |
11 |
100,011,926 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1767:Krt13
|
UTSW |
11 |
100,011,926 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2420:Krt13
|
UTSW |
11 |
100,010,877 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2421:Krt13
|
UTSW |
11 |
100,010,877 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2869:Krt13
|
UTSW |
11 |
100,008,475 (GRCm39) |
missense |
unknown |
|
|
R2869:Krt13
|
UTSW |
11 |
100,008,475 (GRCm39) |
missense |
unknown |
|
|
R4451:Krt13
|
UTSW |
11 |
100,008,827 (GRCm39) |
missense |
unknown |
|
|
R4520:Krt13
|
UTSW |
11 |
100,010,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4632:Krt13
|
UTSW |
11 |
100,012,050 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4656:Krt13
|
UTSW |
11 |
100,010,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4872:Krt13
|
UTSW |
11 |
100,012,332 (GRCm39) |
start gained |
probably benign |
|
|
R5709:Krt13
|
UTSW |
11 |
100,008,469 (GRCm39) |
missense |
unknown |
|
|
R6014:Krt13
|
UTSW |
11 |
100,008,437 (GRCm39) |
missense |
unknown |
|
|
R6323:Krt13
|
UTSW |
11 |
100,011,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6391:Krt13
|
UTSW |
11 |
100,010,202 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7535:Krt13
|
UTSW |
11 |
100,008,824 (GRCm39) |
missense |
unknown |
|
|
R7562:Krt13
|
UTSW |
11 |
100,010,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7867:Krt13
|
UTSW |
11 |
100,012,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7992:Krt13
|
UTSW |
11 |
100,008,478 (GRCm39) |
missense |
unknown |
|
|
R8379:Krt13
|
UTSW |
11 |
100,009,706 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8429:Krt13
|
UTSW |
11 |
100,011,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8560:Krt13
|
UTSW |
11 |
100,009,676 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8728:Krt13
|
UTSW |
11 |
100,012,318 (GRCm39) |
missense |
probably null |
0.73 |
|
R8879:Krt13
|
UTSW |
11 |
100,010,211 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8973:Krt13
|
UTSW |
11 |
100,010,264 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9610:Krt13
|
UTSW |
11 |
100,012,318 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9611:Krt13
|
UTSW |
11 |
100,012,318 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9746:Krt13
|
UTSW |
11 |
100,011,987 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0013:Krt13
|
UTSW |
11 |
100,010,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCCCCAAGACAGCAAGTG -3'
(R):5'- GAGATCACAGAACTCAGGCG -3'
Sequencing Primer
(F):5'- GGAACCTACTTAGCATCCTGG -3'
(R):5'- TCAGGCGCACACTCCAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation