Incidental Mutation 'R7557:Krt26'
| ID |
584845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt26
|
| Ensembl Gene |
ENSMUSG00000075570 |
| Gene Name |
keratin 26 |
| Synonyms |
4732407F15Rik |
| MMRRC Submission |
045652-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R7557 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
99219376-99228792 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 99225567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 305
(R305S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100482]
|
| AlphaFold |
Q3TRJ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100482
AA Change: R305S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000098051
Gene: ENSMUSG00000075570
AA Change: R305S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
65 |
N/A |
INTRINSIC |
|
Filament
|
79 |
394 |
1.1e-132 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin superfamily. This keratin protein is a type I keratin that is specific for the inner root sheath of the hair follicle. This gene exists in a cluster with other keratin genes on chromosome 17q21. [provided by RefSeq, Jul 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,774,044 (GRCm39) |
Q1078* |
probably null |
Het |
| Aatk |
T |
C |
11: 119,900,256 (GRCm39) |
K1310R |
possibly damaging |
Het |
| Acaa2 |
C |
T |
18: 74,928,230 (GRCm39) |
T153M |
possibly damaging |
Het |
| Add3 |
A |
G |
19: 53,227,868 (GRCm39) |
T518A |
probably damaging |
Het |
| Cacnb4 |
T |
C |
2: 52,359,579 (GRCm39) |
E143G |
probably damaging |
Het |
| Cd209a |
T |
A |
8: 3,795,541 (GRCm39) |
T177S |
probably benign |
Het |
| Chp1 |
T |
A |
2: 119,391,238 (GRCm39) |
Y32N |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,390,402 (GRCm39) |
T180A |
probably damaging |
Het |
| Dctn2 |
C |
A |
10: 127,114,273 (GRCm39) |
T373N |
probably benign |
Het |
| Dipk2a |
T |
C |
9: 94,402,591 (GRCm39) |
D357G |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,849,691 (GRCm39) |
Y483H |
possibly damaging |
Het |
| Emb |
T |
A |
13: 117,386,252 (GRCm39) |
N136K |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,773,536 (GRCm39) |
C62S |
probably damaging |
Het |
| Fbxo28 |
G |
T |
1: 182,169,000 (GRCm39) |
A52E |
unknown |
Het |
| Gask1b |
A |
T |
3: 79,793,915 (GRCm39) |
K128* |
probably null |
Het |
| Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
| Ggta1 |
T |
C |
2: 35,292,548 (GRCm39) |
D253G |
probably damaging |
Het |
| Gps1 |
C |
T |
11: 120,677,193 (GRCm39) |
A164V |
probably benign |
Het |
| Gramd4 |
C |
T |
15: 85,985,101 (GRCm39) |
Q146* |
probably null |
Het |
| Kcnh5 |
A |
T |
12: 75,054,399 (GRCm39) |
M515K |
possibly damaging |
Het |
| Klrc3 |
T |
C |
6: 129,616,107 (GRCm39) |
T203A |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,630,793 (GRCm39) |
V35A |
|
Het |
| Marf1 |
C |
T |
16: 13,950,560 (GRCm39) |
R942H |
probably damaging |
Het |
| Mfhas1 |
T |
A |
8: 36,056,758 (GRCm39) |
M411K |
possibly damaging |
Het |
| Mok |
A |
G |
12: 110,774,833 (GRCm39) |
S330P |
probably benign |
Het |
| Msto1 |
A |
G |
3: 88,817,435 (GRCm39) |
|
probably null |
Het |
| Omg |
T |
A |
11: 79,393,679 (GRCm39) |
I60F |
possibly damaging |
Het |
| Or10w1 |
T |
A |
19: 13,632,390 (GRCm39) |
I199N |
possibly damaging |
Het |
| Pcdhgb4 |
T |
A |
18: 37,855,847 (GRCm39) |
C747* |
probably null |
Het |
| Pih1d1 |
A |
G |
7: 44,806,183 (GRCm39) |
T40A |
probably benign |
Het |
| Pih1d2 |
A |
T |
9: 50,536,216 (GRCm39) |
E290D |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,753,848 (GRCm39) |
K1849E |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,372,271 (GRCm39) |
Y74H |
probably damaging |
Het |
| Pole |
T |
G |
5: 110,460,860 (GRCm39) |
I1183S |
probably damaging |
Het |
| Ptgs1 |
T |
C |
2: 36,135,223 (GRCm39) |
S396P |
possibly damaging |
Het |
| Rasa2 |
T |
C |
9: 96,439,478 (GRCm39) |
E575G |
probably damaging |
Het |
| Sec22b |
A |
G |
3: 97,808,674 (GRCm39) |
T5A |
probably damaging |
Het |
| Slc18a1 |
T |
A |
8: 69,518,213 (GRCm39) |
D267V |
probably damaging |
Het |
| Smad5 |
T |
C |
13: 56,875,282 (GRCm39) |
F157L |
probably benign |
Het |
| Tcea1 |
T |
A |
1: 4,965,213 (GRCm39) |
C294* |
probably null |
Het |
| Tut7 |
T |
C |
13: 59,936,280 (GRCm39) |
I1274V |
possibly damaging |
Het |
| Txndc15 |
T |
A |
13: 55,865,767 (GRCm39) |
M77K |
probably benign |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 63,997,475 (GRCm39) |
V377D |
probably damaging |
Het |
| Vmn2r7 |
A |
G |
3: 64,632,394 (GRCm39) |
Y23H |
probably benign |
Het |
| Vwa3a |
T |
A |
7: 120,394,841 (GRCm39) |
M887K |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,995,196 (GRCm39) |
N63D |
probably damaging |
Het |
|
| Other mutations in Krt26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00970:Krt26
|
APN |
11 |
99,222,107 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02019:Krt26
|
APN |
11 |
99,224,471 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02138:Krt26
|
APN |
11 |
99,224,471 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02188:Krt26
|
APN |
11 |
99,224,471 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02189:Krt26
|
APN |
11 |
99,224,471 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02192:Krt26
|
APN |
11 |
99,224,471 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02647:Krt26
|
APN |
11 |
99,224,471 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02651:Krt26
|
APN |
11 |
99,224,471 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0122:Krt26
|
UTSW |
11 |
99,224,545 (GRCm39) |
nonsense |
probably null |
|
|
R1842:Krt26
|
UTSW |
11 |
99,224,352 (GRCm39) |
small deletion |
probably benign |
|
|
R1843:Krt26
|
UTSW |
11 |
99,224,352 (GRCm39) |
small deletion |
probably benign |
|
|
R1923:Krt26
|
UTSW |
11 |
99,224,352 (GRCm39) |
small deletion |
probably benign |
|
|
R1924:Krt26
|
UTSW |
11 |
99,224,352 (GRCm39) |
small deletion |
probably benign |
|
|
R3872:Krt26
|
UTSW |
11 |
99,225,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3873:Krt26
|
UTSW |
11 |
99,225,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3874:Krt26
|
UTSW |
11 |
99,225,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3875:Krt26
|
UTSW |
11 |
99,225,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4014:Krt26
|
UTSW |
11 |
99,226,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4939:Krt26
|
UTSW |
11 |
99,225,522 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5620:Krt26
|
UTSW |
11 |
99,228,597 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6035:Krt26
|
UTSW |
11 |
99,224,415 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6035:Krt26
|
UTSW |
11 |
99,224,415 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6151:Krt26
|
UTSW |
11 |
99,228,315 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6578:Krt26
|
UTSW |
11 |
99,225,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6626:Krt26
|
UTSW |
11 |
99,220,528 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7413:Krt26
|
UTSW |
11 |
99,225,887 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7919:Krt26
|
UTSW |
11 |
99,224,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8051:Krt26
|
UTSW |
11 |
99,228,672 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8090:Krt26
|
UTSW |
11 |
99,227,315 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8163:Krt26
|
UTSW |
11 |
99,220,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8211:Krt26
|
UTSW |
11 |
99,226,110 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8480:Krt26
|
UTSW |
11 |
99,228,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9040:Krt26
|
UTSW |
11 |
99,222,093 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9418:Krt26
|
UTSW |
11 |
99,228,741 (GRCm39) |
start gained |
probably benign |
|
|
Z1186:Krt26
|
UTSW |
11 |
99,228,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1191:Krt26
|
UTSW |
11 |
99,228,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCACTTGTTATGTGGTGTAGCC -3'
(R):5'- ATGCAGAGGCCAGCTTTAAAG -3'
Sequencing Primer
(F):5'- CAGAGAGGGCTTTGGCAC -3'
(R):5'- CAGCTTTAAAGAGAAGGTACATCTGC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation